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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs13005

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr10:13643766 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
G>A / G>C / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.443050 (117271/264690, TOPMED)
G=0.424084 (64426/151918, ALFA)
G=0.443936 (62159/140018, GnomAD) (+ 18 more)
G=0.17694 (5000/28258, 14KJPN)
G=0.17619 (2953/16760, 8.3KJPN)
G=0.4244 (2718/6404, 1000G_30x)
G=0.4199 (2103/5008, 1000G)
G=0.4020 (1801/4480, Estonian)
G=0.4235 (1632/3854, ALSPAC)
G=0.4355 (1615/3708, TWINSUK)
G=0.2294 (672/2930, KOREAN)
G=0.4302 (814/1892, HapMap)
G=0.2249 (412/1832, Korea1K)
G=0.465 (464/998, GoNL)
G=0.467 (280/600, NorthernSweden)
A=0.058 (31/534, MGP)
G=0.281 (128/456, SGDP_PRJ)
G=0.407 (88/216, Qatari)
G=0.222 (48/216, Vietnamese)
G=0.28 (15/54, Siberian)
G=0.38 (15/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PRPF18 : Intron Variant
FRMD4A : 3 Prime UTR Variant
Publications
1 citation
Genomic View
See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 151918 G=0.424084 A=0.575916
European Sub 127564 G=0.423113 A=0.576887
African Sub 7354 G=0.5408 A=0.4592
African Others Sub 254 G=0.571 A=0.429
African American Sub 7100 G=0.5397 A=0.4603
Asian Sub 676 G=0.235 A=0.765
East Asian Sub 514 G=0.220 A=0.780
Other Asian Sub 162 G=0.284 A=0.716
Latin American 1 Sub 898 G=0.440 A=0.560
Latin American 2 Sub 8426 G=0.3474 A=0.6526
South Asian Sub 196 G=0.454 A=0.546
Other Sub 6804 G=0.4270 A=0.5730


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 G=0.443050 A=0.556950
Allele Frequency Aggregator Total Global 151918 G=0.424084 A=0.575916
Allele Frequency Aggregator European Sub 127564 G=0.423113 A=0.576887
Allele Frequency Aggregator Latin American 2 Sub 8426 G=0.3474 A=0.6526
Allele Frequency Aggregator African Sub 7354 G=0.5408 A=0.4592
Allele Frequency Aggregator Other Sub 6804 G=0.4270 A=0.5730
Allele Frequency Aggregator Latin American 1 Sub 898 G=0.440 A=0.560
Allele Frequency Aggregator Asian Sub 676 G=0.235 A=0.765
Allele Frequency Aggregator South Asian Sub 196 G=0.454 A=0.546
gnomAD - Genomes Global Study-wide 140018 G=0.443936 A=0.556064
gnomAD - Genomes European Sub 75836 G=0.41399 A=0.58601
gnomAD - Genomes African Sub 41948 G=0.52777 A=0.47223
gnomAD - Genomes American Sub 13634 G=0.39431 A=0.60569
gnomAD - Genomes Ashkenazi Jewish Sub 3318 G=0.5018 A=0.4982
gnomAD - Genomes East Asian Sub 3132 G=0.2095 A=0.7905
gnomAD - Genomes Other Sub 2150 G=0.4316 A=0.5684
14KJPN JAPANESE Study-wide 28258 G=0.17694 A=0.82306
8.3KJPN JAPANESE Study-wide 16760 G=0.17619 A=0.82381
1000Genomes_30x Global Study-wide 6404 G=0.4244 A=0.5756
1000Genomes_30x African Sub 1786 G=0.5538 A=0.4462
1000Genomes_30x Europe Sub 1266 G=0.4234 A=0.5766
1000Genomes_30x South Asian Sub 1202 G=0.4725 A=0.5275
1000Genomes_30x East Asian Sub 1170 G=0.2385 A=0.7615
1000Genomes_30x American Sub 980 G=0.353 A=0.647
1000Genomes Global Study-wide 5008 G=0.4199 A=0.5801
1000Genomes African Sub 1322 G=0.5567 A=0.4433
1000Genomes East Asian Sub 1008 G=0.2272 A=0.7728
1000Genomes Europe Sub 1006 G=0.4215 A=0.5785
1000Genomes South Asian Sub 978 G=0.470 A=0.530
1000Genomes American Sub 694 G=0.366 A=0.634
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.4020 A=0.5980
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.4235 A=0.5765
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.4355 A=0.5645
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.2294 A=0.7706, C=0.0000, T=0.0000
HapMap Global Study-wide 1892 G=0.4302 A=0.5698
HapMap American Sub 770 G=0.391 A=0.609
HapMap African Sub 692 G=0.558 A=0.442
HapMap Asian Sub 254 G=0.197 A=0.803
HapMap Europe Sub 176 G=0.438 A=0.562
Korean Genome Project KOREAN Study-wide 1832 G=0.2249 A=0.7751
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.465 A=0.535
Northern Sweden ACPOP Study-wide 600 G=0.467 A=0.533
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.942 A=0.058
SGDP_PRJ Global Study-wide 456 G=0.281 A=0.719
Qatari Global Study-wide 216 G=0.407 A=0.593
A Vietnamese Genetic Variation Database Global Study-wide 216 G=0.222 A=0.778
Siberian Global Study-wide 54 G=0.28 A=0.72
The Danish reference pan genome Danish Study-wide 40 G=0.38 A=0.62
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p14 chr 10 NC_000010.11:g.13643766G>A
GRCh38.p14 chr 10 NC_000010.11:g.13643766G>C
GRCh38.p14 chr 10 NC_000010.11:g.13643766G>T
GRCh37.p13 chr 10 NC_000010.10:g.13685766G>A
GRCh37.p13 chr 10 NC_000010.10:g.13685766G>C
GRCh37.p13 chr 10 NC_000010.10:g.13685766G>T
FRMD4A RefSeqGene NG_047164.1:g.692102C>T
FRMD4A RefSeqGene NG_047164.1:g.692102C>G
FRMD4A RefSeqGene NG_047164.1:g.692102C>A
Gene: FRMD4A, FERM domain containing 4A (minus strand)
Molecule type Change Amino acid[Codon] SO Term
FRMD4A transcript variant 1 NM_018027.5:c.*3272= N/A 3 Prime UTR Variant
FRMD4A transcript variant 2 NM_001318336.2:c.*3272= N/A 3 Prime UTR Variant
FRMD4A transcript variant 4 NM_001318338.2:c.*3272= N/A 3 Prime UTR Variant
FRMD4A transcript variant 3 NM_001318337.2:c.*3272= N/A 3 Prime UTR Variant
FRMD4A transcript variant 5 NR_134578.2:n. N/A Genic Downstream Transcript Variant
Gene: PRPF18, pre-mRNA processing factor 18 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
PRPF18 transcript variant 1 NM_001395875.1:c. N/A Genic Downstream Transcript Variant
PRPF18 transcript variant 3 NM_001395876.1:c. N/A Genic Downstream Transcript Variant
PRPF18 transcript variant 4 NM_001395877.1:c. N/A Genic Downstream Transcript Variant
PRPF18 transcript variant 5 NM_001395878.1:c. N/A Genic Downstream Transcript Variant
PRPF18 transcript variant 6 NM_001395879.1:c. N/A Genic Downstream Transcript Variant
PRPF18 transcript variant 7 NM_001395880.1:c. N/A Genic Downstream Transcript Variant
PRPF18 transcript variant 8 NM_001395881.1:c. N/A Genic Downstream Transcript Variant
PRPF18 transcript variant 9 NM_001395882.1:c. N/A Genic Downstream Transcript Variant
PRPF18 transcript variant 10 NM_001395883.1:c. N/A Genic Downstream Transcript Variant
PRPF18 transcript variant 11 NM_001395884.1:c. N/A Genic Downstream Transcript Variant
PRPF18 transcript variant 12 NM_001395885.1:c. N/A Genic Downstream Transcript Variant
PRPF18 transcript variant 13 NM_001395886.1:c. N/A Genic Downstream Transcript Variant
PRPF18 transcript variant 14 NM_001395887.1:c. N/A Genic Downstream Transcript Variant
PRPF18 transcript variant 2 NM_003675.4:c. N/A Genic Downstream Transcript Variant
PRPF18 transcript variant 15 NR_172904.1:n. N/A Intron Variant
PRPF18 transcript variant 16 NR_172905.1:n. N/A Intron Variant
PRPF18 transcript variant 17 NR_172906.1:n. N/A Intron Variant
PRPF18 transcript variant X2 XM_047425924.1:c.*2833-11…

XM_047425924.1:c.*2833-1151G>A

N/A Intron Variant
PRPF18 transcript variant X3 XM_047425925.1:c.*2833-11…

XM_047425925.1:c.*2833-1151G>A

N/A Intron Variant
PRPF18 transcript variant X8 XM_047425930.1:c.*8004-11…

XM_047425930.1:c.*8004-1151G>A

N/A Intron Variant
PRPF18 transcript variant X9 XM_047425931.1:c.*11816-1…

XM_047425931.1:c.*11816-1151G>A

N/A Intron Variant
PRPF18 transcript variant X10 XM_047425932.1:c.*8584-11…

XM_047425932.1:c.*8584-1151G>A

N/A Intron Variant
PRPF18 transcript variant X13 XM_047425935.1:c.*8584-11…

XM_047425935.1:c.*8584-1151G>A

N/A Intron Variant
PRPF18 transcript variant X15 XM_047425937.1:c.*8004-11…

XM_047425937.1:c.*8004-1151G>A

N/A Intron Variant
PRPF18 transcript variant X17 XM_047425939.1:c.*8584-11…

XM_047425939.1:c.*8584-1151G>A

N/A Intron Variant
PRPF18 transcript variant X20 XM_047425942.1:c.*8004-11…

XM_047425942.1:c.*8004-1151G>A

N/A Intron Variant
PRPF18 transcript variant X23 XM_047425945.1:c.*8584-11…

XM_047425945.1:c.*8584-1151G>A

N/A Intron Variant
PRPF18 transcript variant X29 XM_047425951.1:c.*8004-11…

XM_047425951.1:c.*8004-1151G>A

N/A Intron Variant
PRPF18 transcript variant X30 XM_047425952.1:c.*2486-11…

XM_047425952.1:c.*2486-1151G>A

N/A Intron Variant
PRPF18 transcript variant X32 XM_047425954.1:c.*8004-11…

XM_047425954.1:c.*8004-1151G>A

N/A Intron Variant
PRPF18 transcript variant X33 XM_047425955.1:c.*8004-11…

XM_047425955.1:c.*8004-1151G>A

N/A Intron Variant
PRPF18 transcript variant X34 XM_047425956.1:c.*1747-11…

XM_047425956.1:c.*1747-1151G>A

N/A Intron Variant
PRPF18 transcript variant X35 XM_047425957.1:c.*8584-11…

XM_047425957.1:c.*8584-1151G>A

N/A Intron Variant
PRPF18 transcript variant X36 XM_047425958.1:c.*8004-11…

XM_047425958.1:c.*8004-1151G>A

N/A Intron Variant
PRPF18 transcript variant X37 XM_047425959.1:c.*8584-11…

XM_047425959.1:c.*8584-1151G>A

N/A Intron Variant
PRPF18 transcript variant X38 XM_047425960.1:c.*8004-11…

XM_047425960.1:c.*8004-1151G>A

N/A Intron Variant
PRPF18 transcript variant X39 XM_047425961.1:c.*8004-11…

XM_047425961.1:c.*8004-1151G>A

N/A Intron Variant
PRPF18 transcript variant X40 XM_047425962.1:c.*8004-11…

XM_047425962.1:c.*8004-1151G>A

N/A Intron Variant
PRPF18 transcript variant X41 XM_047425963.1:c.*1747-11…

XM_047425963.1:c.*1747-1151G>A

N/A Intron Variant
PRPF18 transcript variant X42 XM_047425964.1:c.*2486-10…

XM_047425964.1:c.*2486-10587G>A

N/A Intron Variant
PRPF18 transcript variant X1 XM_047425923.1:c.*13426= N/A 3 Prime UTR Variant
PRPF18 transcript variant X4 XM_047425926.1:c.*13426= N/A 3 Prime UTR Variant
PRPF18 transcript variant X5 XM_047425927.1:c.*13426= N/A 3 Prime UTR Variant
PRPF18 transcript variant X6 XM_047425928.1:c.*12846= N/A 3 Prime UTR Variant
PRPF18 transcript variant X7 XM_047425929.1:c.*13426= N/A 3 Prime UTR Variant
PRPF18 transcript variant X11 XM_047425933.1:c.*13426= N/A 3 Prime UTR Variant
PRPF18 transcript variant X12 XM_047425934.1:c.*13426= N/A 3 Prime UTR Variant
PRPF18 transcript variant X14 XM_047425936.1:c.*13426= N/A 3 Prime UTR Variant
PRPF18 transcript variant X16 XM_047425938.1:c.*13426= N/A 3 Prime UTR Variant
PRPF18 transcript variant X18 XM_047425940.1:c.*13426= N/A 3 Prime UTR Variant
PRPF18 transcript variant X19 XM_047425941.1:c.*12687= N/A 3 Prime UTR Variant
PRPF18 transcript variant X21 XM_047425943.1:c.*13426= N/A 3 Prime UTR Variant
PRPF18 transcript variant X22 XM_047425944.1:c.*13426= N/A 3 Prime UTR Variant
PRPF18 transcript variant X24 XM_047425946.1:c.*13426= N/A 3 Prime UTR Variant
PRPF18 transcript variant X25 XM_047425947.1:c.*13426= N/A 3 Prime UTR Variant
PRPF18 transcript variant X26 XM_047425948.1:c.*13426= N/A 3 Prime UTR Variant
PRPF18 transcript variant X27 XM_047425949.1:c.*13426= N/A 3 Prime UTR Variant
PRPF18 transcript variant X28 XM_047425950.1:c.*13426= N/A 3 Prime UTR Variant
PRPF18 transcript variant X31 XM_047425953.1:c.*13426= N/A 3 Prime UTR Variant
PRPF18 transcript variant X43 XM_047425965.1:c.*13426= N/A 3 Prime UTR Variant
PRPF18 transcript variant X44 XM_047425966.1:c.*13426= N/A 3 Prime UTR Variant
PRPF18 transcript variant X45 XM_047425967.1:c.*13426= N/A 3 Prime UTR Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement G= A C T
GRCh38.p14 chr 10 NC_000010.11:g.13643766= NC_000010.11:g.13643766G>A NC_000010.11:g.13643766G>C NC_000010.11:g.13643766G>T
GRCh37.p13 chr 10 NC_000010.10:g.13685766= NC_000010.10:g.13685766G>A NC_000010.10:g.13685766G>C NC_000010.10:g.13685766G>T
FRMD4A RefSeqGene NG_047164.1:g.692102= NG_047164.1:g.692102C>T NG_047164.1:g.692102C>G NG_047164.1:g.692102C>A
FRMD4A transcript variant 1 NM_018027.5:c.*3272= NM_018027.5:c.*3272C>T NM_018027.5:c.*3272C>G NM_018027.5:c.*3272C>A
FRMD4A transcript variant 1 NM_018027.4:c.*3272= NM_018027.4:c.*3272C>T NM_018027.4:c.*3272C>G NM_018027.4:c.*3272C>A
FRMD4A transcript NM_018027.3:c.*3272= NM_018027.3:c.*3272C>T NM_018027.3:c.*3272C>G NM_018027.3:c.*3272C>A
FRMD4A transcript variant 2 NM_001318336.2:c.*3272= NM_001318336.2:c.*3272C>T NM_001318336.2:c.*3272C>G NM_001318336.2:c.*3272C>A
FRMD4A transcript variant 2 NM_001318336.1:c.*3272= NM_001318336.1:c.*3272C>T NM_001318336.1:c.*3272C>G NM_001318336.1:c.*3272C>A
FRMD4A transcript variant 3 NM_001318337.2:c.*3272= NM_001318337.2:c.*3272C>T NM_001318337.2:c.*3272C>G NM_001318337.2:c.*3272C>A
FRMD4A transcript variant 3 NM_001318337.1:c.*3272= NM_001318337.1:c.*3272C>T NM_001318337.1:c.*3272C>G NM_001318337.1:c.*3272C>A
FRMD4A transcript variant 4 NM_001318338.2:c.*3272= NM_001318338.2:c.*3272C>T NM_001318338.2:c.*3272C>G NM_001318338.2:c.*3272C>A
FRMD4A transcript variant 4 NM_001318338.1:c.*3272= NM_001318338.1:c.*3272C>T NM_001318338.1:c.*3272C>G NM_001318338.1:c.*3272C>A
PRPF18 transcript variant X1 XM_047425923.1:c.*13426= XM_047425923.1:c.*13426G>A XM_047425923.1:c.*13426G>C XM_047425923.1:c.*13426G>T
PRPF18 transcript variant X43 XM_047425965.1:c.*13426= XM_047425965.1:c.*13426G>A XM_047425965.1:c.*13426G>C XM_047425965.1:c.*13426G>T
PRPF18 transcript variant X44 XM_047425966.1:c.*13426= XM_047425966.1:c.*13426G>A XM_047425966.1:c.*13426G>C XM_047425966.1:c.*13426G>T
PRPF18 transcript variant X45 XM_047425967.1:c.*13426= XM_047425967.1:c.*13426G>A XM_047425967.1:c.*13426G>C XM_047425967.1:c.*13426G>T
PRPF18 transcript variant X19 XM_047425941.1:c.*12687= XM_047425941.1:c.*12687G>A XM_047425941.1:c.*12687G>C XM_047425941.1:c.*12687G>T
PRPF18 transcript variant X4 XM_047425926.1:c.*13426= XM_047425926.1:c.*13426G>A XM_047425926.1:c.*13426G>C XM_047425926.1:c.*13426G>T
PRPF18 transcript variant X7 XM_047425929.1:c.*13426= XM_047425929.1:c.*13426G>A XM_047425929.1:c.*13426G>C XM_047425929.1:c.*13426G>T
PRPF18 transcript variant X11 XM_047425933.1:c.*13426= XM_047425933.1:c.*13426G>A XM_047425933.1:c.*13426G>C XM_047425933.1:c.*13426G>T
PRPF18 transcript variant X21 XM_047425943.1:c.*13426= XM_047425943.1:c.*13426G>A XM_047425943.1:c.*13426G>C XM_047425943.1:c.*13426G>T
PRPF18 transcript variant X24 XM_047425946.1:c.*13426= XM_047425946.1:c.*13426G>A XM_047425946.1:c.*13426G>C XM_047425946.1:c.*13426G>T
PRPF18 transcript variant X26 XM_047425948.1:c.*13426= XM_047425948.1:c.*13426G>A XM_047425948.1:c.*13426G>C XM_047425948.1:c.*13426G>T
PRPF18 transcript variant X14 XM_047425936.1:c.*13426= XM_047425936.1:c.*13426G>A XM_047425936.1:c.*13426G>C XM_047425936.1:c.*13426G>T
PRPF18 transcript variant X12 XM_047425934.1:c.*13426= XM_047425934.1:c.*13426G>A XM_047425934.1:c.*13426G>C XM_047425934.1:c.*13426G>T
PRPF18 transcript variant X16 XM_047425938.1:c.*13426= XM_047425938.1:c.*13426G>A XM_047425938.1:c.*13426G>C XM_047425938.1:c.*13426G>T
PRPF18 transcript variant X22 XM_047425944.1:c.*13426= XM_047425944.1:c.*13426G>A XM_047425944.1:c.*13426G>C XM_047425944.1:c.*13426G>T
PRPF18 transcript variant X25 XM_047425947.1:c.*13426= XM_047425947.1:c.*13426G>A XM_047425947.1:c.*13426G>C XM_047425947.1:c.*13426G>T
PRPF18 transcript variant X27 XM_047425949.1:c.*13426= XM_047425949.1:c.*13426G>A XM_047425949.1:c.*13426G>C XM_047425949.1:c.*13426G>T
PRPF18 transcript variant X6 XM_047425928.1:c.*12846= XM_047425928.1:c.*12846G>A XM_047425928.1:c.*12846G>C XM_047425928.1:c.*12846G>T
PRPF18 transcript variant X5 XM_047425927.1:c.*13426= XM_047425927.1:c.*13426G>A XM_047425927.1:c.*13426G>C XM_047425927.1:c.*13426G>T
PRPF18 transcript variant X18 XM_047425940.1:c.*13426= XM_047425940.1:c.*13426G>A XM_047425940.1:c.*13426G>C XM_047425940.1:c.*13426G>T
PRPF18 transcript variant X28 XM_047425950.1:c.*13426= XM_047425950.1:c.*13426G>A XM_047425950.1:c.*13426G>C XM_047425950.1:c.*13426G>T
PRPF18 transcript variant X31 XM_047425953.1:c.*13426= XM_047425953.1:c.*13426G>A XM_047425953.1:c.*13426G>C XM_047425953.1:c.*13426G>T
PRPF18 transcript variant X2 XM_047425924.1:c.*2833-1151= XM_047425924.1:c.*2833-1151G>A XM_047425924.1:c.*2833-1151G>C XM_047425924.1:c.*2833-1151G>T
PRPF18 transcript variant X3 XM_047425925.1:c.*2833-1151= XM_047425925.1:c.*2833-1151G>A XM_047425925.1:c.*2833-1151G>C XM_047425925.1:c.*2833-1151G>T
PRPF18 transcript variant X8 XM_047425930.1:c.*8004-1151= XM_047425930.1:c.*8004-1151G>A XM_047425930.1:c.*8004-1151G>C XM_047425930.1:c.*8004-1151G>T
PRPF18 transcript variant X9 XM_047425931.1:c.*11816-1151= XM_047425931.1:c.*11816-1151G>A XM_047425931.1:c.*11816-1151G>C XM_047425931.1:c.*11816-1151G>T
PRPF18 transcript variant X10 XM_047425932.1:c.*8584-1151= XM_047425932.1:c.*8584-1151G>A XM_047425932.1:c.*8584-1151G>C XM_047425932.1:c.*8584-1151G>T
PRPF18 transcript variant X13 XM_047425935.1:c.*8584-1151= XM_047425935.1:c.*8584-1151G>A XM_047425935.1:c.*8584-1151G>C XM_047425935.1:c.*8584-1151G>T
PRPF18 transcript variant X15 XM_047425937.1:c.*8004-1151= XM_047425937.1:c.*8004-1151G>A XM_047425937.1:c.*8004-1151G>C XM_047425937.1:c.*8004-1151G>T
PRPF18 transcript variant X17 XM_047425939.1:c.*8584-1151= XM_047425939.1:c.*8584-1151G>A XM_047425939.1:c.*8584-1151G>C XM_047425939.1:c.*8584-1151G>T
PRPF18 transcript variant X20 XM_047425942.1:c.*8004-1151= XM_047425942.1:c.*8004-1151G>A XM_047425942.1:c.*8004-1151G>C XM_047425942.1:c.*8004-1151G>T
PRPF18 transcript variant X23 XM_047425945.1:c.*8584-1151= XM_047425945.1:c.*8584-1151G>A XM_047425945.1:c.*8584-1151G>C XM_047425945.1:c.*8584-1151G>T
PRPF18 transcript variant X29 XM_047425951.1:c.*8004-1151= XM_047425951.1:c.*8004-1151G>A XM_047425951.1:c.*8004-1151G>C XM_047425951.1:c.*8004-1151G>T
PRPF18 transcript variant X30 XM_047425952.1:c.*2486-1151= XM_047425952.1:c.*2486-1151G>A XM_047425952.1:c.*2486-1151G>C XM_047425952.1:c.*2486-1151G>T
PRPF18 transcript variant X32 XM_047425954.1:c.*8004-1151= XM_047425954.1:c.*8004-1151G>A XM_047425954.1:c.*8004-1151G>C XM_047425954.1:c.*8004-1151G>T
PRPF18 transcript variant X33 XM_047425955.1:c.*8004-1151= XM_047425955.1:c.*8004-1151G>A XM_047425955.1:c.*8004-1151G>C XM_047425955.1:c.*8004-1151G>T
PRPF18 transcript variant X34 XM_047425956.1:c.*1747-1151= XM_047425956.1:c.*1747-1151G>A XM_047425956.1:c.*1747-1151G>C XM_047425956.1:c.*1747-1151G>T
PRPF18 transcript variant X35 XM_047425957.1:c.*8584-1151= XM_047425957.1:c.*8584-1151G>A XM_047425957.1:c.*8584-1151G>C XM_047425957.1:c.*8584-1151G>T
PRPF18 transcript variant X36 XM_047425958.1:c.*8004-1151= XM_047425958.1:c.*8004-1151G>A XM_047425958.1:c.*8004-1151G>C XM_047425958.1:c.*8004-1151G>T
PRPF18 transcript variant X37 XM_047425959.1:c.*8584-1151= XM_047425959.1:c.*8584-1151G>A XM_047425959.1:c.*8584-1151G>C XM_047425959.1:c.*8584-1151G>T
PRPF18 transcript variant X38 XM_047425960.1:c.*8004-1151= XM_047425960.1:c.*8004-1151G>A XM_047425960.1:c.*8004-1151G>C XM_047425960.1:c.*8004-1151G>T
PRPF18 transcript variant X39 XM_047425961.1:c.*8004-1151= XM_047425961.1:c.*8004-1151G>A XM_047425961.1:c.*8004-1151G>C XM_047425961.1:c.*8004-1151G>T
PRPF18 transcript variant X40 XM_047425962.1:c.*8004-1151= XM_047425962.1:c.*8004-1151G>A XM_047425962.1:c.*8004-1151G>C XM_047425962.1:c.*8004-1151G>T
PRPF18 transcript variant X41 XM_047425963.1:c.*1747-1151= XM_047425963.1:c.*1747-1151G>A XM_047425963.1:c.*1747-1151G>C XM_047425963.1:c.*1747-1151G>T
PRPF18 transcript variant X42 XM_047425964.1:c.*2486-10587= XM_047425964.1:c.*2486-10587G>A XM_047425964.1:c.*2486-10587G>C XM_047425964.1:c.*2486-10587G>T
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

120 SubSNP, 21 Frequency submissions
No Submitter Submission ID Date (Build)
1 CGAP-GAI ss15316 Sep 19, 2000 (52)
2 LEE ss1511972 Oct 13, 2000 (94)
3 LEE ss4405508 May 29, 2002 (106)
4 SC_SNP ss16094517 Feb 27, 2004 (120)
5 CGAP-GAI ss16247543 Feb 27, 2004 (120)
6 CSHL-HAPMAP ss19180023 Feb 27, 2004 (120)
7 SSAHASNP ss20719861 Apr 05, 2004 (121)
8 ABI ss38514871 Mar 15, 2006 (126)
9 SI_EXO ss61705021 Oct 15, 2006 (127)
10 AFFY ss66514170 Nov 30, 2006 (127)
11 ILLUMINA ss75034674 Dec 06, 2007 (129)
12 AFFY ss76336960 Dec 08, 2007 (130)
13 HGSV ss77318166 Dec 06, 2007 (129)
14 HGSV ss78197060 Dec 06, 2007 (129)
15 KRIBB_YJKIM ss81404522 Dec 15, 2007 (130)
16 BCMHGSC_JDW ss88104173 Mar 23, 2008 (129)
17 HUMANGENOME_JCVI ss97623895 Feb 04, 2009 (130)
18 BGI ss102855897 Feb 23, 2009 (131)
19 1000GENOMES ss109250126 Jan 23, 2009 (130)
20 ILLUMINA ss120242417 Dec 01, 2009 (131)
21 ENSEMBL ss131865240 Dec 01, 2009 (131)
22 GMI ss154614588 Dec 01, 2009 (131)
23 ILLUMINA ss160311941 Dec 01, 2009 (131)
24 COMPLETE_GENOMICS ss167886174 Jul 04, 2010 (132)
25 COMPLETE_GENOMICS ss170512290 Jul 04, 2010 (132)
26 ILLUMINA ss172301454 Jul 04, 2010 (132)
27 BUSHMAN ss201173330 Jul 04, 2010 (132)
28 BCM-HGSC-SUB ss207295213 Jul 04, 2010 (132)
29 1000GENOMES ss210905650 Jul 14, 2010 (132)
30 1000GENOMES ss224578265 Jul 14, 2010 (132)
31 1000GENOMES ss235065234 Jul 15, 2010 (132)
32 1000GENOMES ss241794345 Jul 15, 2010 (132)
33 ILLUMINA ss244258450 Jul 04, 2010 (132)
34 GMI ss280490188 May 04, 2012 (137)
35 GMI ss286134851 Apr 25, 2013 (138)
36 PJP ss290978895 May 09, 2011 (134)
37 ILLUMINA ss479856007 May 04, 2012 (137)
38 ILLUMINA ss479863628 May 04, 2012 (137)
39 ILLUMINA ss480464408 Sep 08, 2015 (146)
40 ILLUMINA ss484726522 May 04, 2012 (137)
41 ILLUMINA ss536827140 Sep 08, 2015 (146)
42 TISHKOFF ss561785330 Apr 25, 2013 (138)
43 SSMP ss656293140 Apr 25, 2013 (138)
44 ILLUMINA ss778794056 Sep 08, 2015 (146)
45 ILLUMINA ss782809957 Sep 08, 2015 (146)
46 ILLUMINA ss783775224 Sep 08, 2015 (146)
47 ILLUMINA ss832063119 Sep 08, 2015 (146)
48 ILLUMINA ss834254140 Sep 08, 2015 (146)
49 EVA-GONL ss987219090 Aug 21, 2014 (142)
50 JMKIDD_LAB ss1076779699 Aug 21, 2014 (142)
51 1000GENOMES ss1336362591 Aug 21, 2014 (142)
52 DDI ss1426229555 Apr 01, 2015 (144)
53 EVA_GENOME_DK ss1574934731 Apr 01, 2015 (144)
54 EVA_DECODE ss1596871852 Apr 01, 2015 (144)
55 EVA_UK10K_ALSPAC ss1624035935 Apr 01, 2015 (144)
56 EVA_UK10K_TWINSUK ss1667029968 Apr 01, 2015 (144)
57 EVA_MGP ss1711248178 Apr 01, 2015 (144)
58 EVA_SVP ss1713159611 Apr 01, 2015 (144)
59 ILLUMINA ss1751957888 Sep 08, 2015 (146)
60 HAMMER_LAB ss1806266657 Sep 08, 2015 (146)
61 WEILL_CORNELL_DGM ss1930543749 Feb 12, 2016 (147)
62 GENOMED ss1967065639 Jul 19, 2016 (147)
63 JJLAB ss2025997199 Sep 14, 2016 (149)
64 USC_VALOUEV ss2154241498 Dec 20, 2016 (150)
65 HUMAN_LONGEVITY ss2172833794 Dec 20, 2016 (150)
66 SYSTEMSBIOZJU ss2627468497 Nov 08, 2017 (151)
67 ILLUMINA ss2632678982 Nov 08, 2017 (151)
68 GRF ss2698467802 Nov 08, 2017 (151)
69 GNOMAD ss2885747172 Nov 08, 2017 (151)
70 AFFY ss2985551873 Nov 08, 2017 (151)
71 SWEGEN ss3005974240 Nov 08, 2017 (151)
72 BIOINF_KMB_FNS_UNIBA ss3026784170 Nov 08, 2017 (151)
73 CSHL ss3348973404 Nov 08, 2017 (151)
74 ILLUMINA ss3626392695 Oct 12, 2018 (152)
75 ILLUMINA ss3630706457 Oct 12, 2018 (152)
76 ILLUMINA ss3633636526 Oct 12, 2018 (152)
77 ILLUMINA ss3634391609 Oct 12, 2018 (152)
78 ILLUMINA ss3635329298 Oct 12, 2018 (152)
79 ILLUMINA ss3636072067 Oct 12, 2018 (152)
80 ILLUMINA ss3637079894 Oct 12, 2018 (152)
81 ILLUMINA ss3637835614 Oct 12, 2018 (152)
82 ILLUMINA ss3640098957 Oct 12, 2018 (152)
83 ILLUMINA ss3642840139 Oct 12, 2018 (152)
84 OMUKHERJEE_ADBS ss3646402984 Oct 12, 2018 (152)
85 URBANLAB ss3649296725 Oct 12, 2018 (152)
86 EGCUT_WGS ss3673502505 Jul 13, 2019 (153)
87 EVA_DECODE ss3689327161 Jul 13, 2019 (153)
88 ACPOP ss3737082429 Jul 13, 2019 (153)
89 ILLUMINA ss3744692469 Jul 13, 2019 (153)
90 EVA ss3747774691 Jul 13, 2019 (153)
91 ILLUMINA ss3772193179 Jul 13, 2019 (153)
92 PACBIO ss3786590245 Jul 13, 2019 (153)
93 PACBIO ss3791781988 Jul 13, 2019 (153)
94 PACBIO ss3796663850 Jul 13, 2019 (153)
95 KHV_HUMAN_GENOMES ss3813135542 Jul 13, 2019 (153)
96 EVA ss3825771568 Apr 26, 2020 (154)
97 EVA ss3831980837 Apr 26, 2020 (154)
98 EVA ss3839522116 Apr 26, 2020 (154)
99 EVA ss3844988616 Apr 26, 2020 (154)
100 SGDP_PRJ ss3873581634 Apr 26, 2020 (154)
101 KRGDB ss3921529619 Apr 26, 2020 (154)
102 KOGIC ss3967247020 Apr 26, 2020 (154)
103 FSA-LAB ss3983973304 Apr 27, 2021 (155)
104 EVA ss3986049212 Apr 27, 2021 (155)
105 EVA ss4017472101 Apr 27, 2021 (155)
106 TOPMED ss4843148963 Apr 27, 2021 (155)
107 TOMMO_GENOMICS ss5196364295 Apr 27, 2021 (155)
108 1000G_HIGH_COVERAGE ss5282997432 Oct 16, 2022 (156)
109 EVA ss5315453855 Oct 16, 2022 (156)
110 HUGCELL_USP ss5478766982 Oct 16, 2022 (156)
111 EVA ss5509908859 Oct 16, 2022 (156)
112 1000G_HIGH_COVERAGE ss5576418926 Oct 16, 2022 (156)
113 SANFORD_IMAGENETICS ss5648720570 Oct 16, 2022 (156)
114 TOMMO_GENOMICS ss5741242156 Oct 16, 2022 (156)
115 EVA ss5799804591 Oct 16, 2022 (156)
116 YY_MCH ss5811216433 Oct 16, 2022 (156)
117 EVA ss5824008534 Oct 16, 2022 (156)
118 EVA ss5849447866 Oct 16, 2022 (156)
119 EVA ss5877824607 Oct 16, 2022 (156)
120 EVA ss5940007126 Oct 16, 2022 (156)
121 1000Genomes NC_000010.10 - 13685766 Oct 12, 2018 (152)
122 1000Genomes_30x NC_000010.11 - 13643766 Oct 16, 2022 (156)
123 The Avon Longitudinal Study of Parents and Children NC_000010.10 - 13685766 Oct 12, 2018 (152)
124 Genetic variation in the Estonian population NC_000010.10 - 13685766 Oct 12, 2018 (152)
125 The Danish reference pan genome NC_000010.10 - 13685766 Apr 26, 2020 (154)
126 gnomAD - Genomes NC_000010.11 - 13643766 Apr 27, 2021 (155)
127 Genome of the Netherlands Release 5 NC_000010.10 - 13685766 Apr 26, 2020 (154)
128 HapMap NC_000010.11 - 13643766 Apr 26, 2020 (154)
129 KOREAN population from KRGDB NC_000010.10 - 13685766 Apr 26, 2020 (154)
130 Korean Genome Project NC_000010.11 - 13643766 Apr 26, 2020 (154)
131 Medical Genome Project healthy controls from Spanish population NC_000010.10 - 13685766 Apr 26, 2020 (154)
132 Northern Sweden NC_000010.10 - 13685766 Jul 13, 2019 (153)
133 Qatari NC_000010.10 - 13685766 Apr 26, 2020 (154)
134 SGDP_PRJ NC_000010.10 - 13685766 Apr 26, 2020 (154)
135 Siberian NC_000010.10 - 13685766 Apr 26, 2020 (154)
136 8.3KJPN NC_000010.10 - 13685766 Apr 27, 2021 (155)
137 14KJPN NC_000010.11 - 13643766 Oct 16, 2022 (156)
138 TopMed NC_000010.11 - 13643766 Apr 27, 2021 (155)
139 UK 10K study - Twins NC_000010.10 - 13685766 Oct 12, 2018 (152)
140 A Vietnamese Genetic Variation Database NC_000010.10 - 13685766 Jul 13, 2019 (153)
141 ALFA NC_000010.11 - 13643766 Apr 27, 2021 (155)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID History Updated (Build)
rs1127371 Apr 12, 2001 (94)
rs3183258 Jul 03, 2002 (106)
rs56469903 May 23, 2008 (130)
rs60843570 Feb 26, 2009 (130)
rs74227289 Dec 02, 2009 (131)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss77318166, ss78197060 NC_000010.8:13725771:G:A NC_000010.11:13643765:G:A (self)
ss88104173, ss109250126, ss167886174, ss170512290, ss201173330, ss207295213, ss210905650, ss280490188, ss286134851, ss290978895, ss479856007, ss1596871852, ss1713159611, ss3642840139 NC_000010.9:13725771:G:A NC_000010.11:13643765:G:A (self)
48712324, 27069141, 19240753, 2041926, 12072077, 28707013, 363938, 10367294, 12585679, 25598614, 6757852, 54333602, 27069141, 6009625, ss224578265, ss235065234, ss241794345, ss479863628, ss480464408, ss484726522, ss536827140, ss561785330, ss656293140, ss778794056, ss782809957, ss783775224, ss832063119, ss834254140, ss987219090, ss1076779699, ss1336362591, ss1426229555, ss1574934731, ss1624035935, ss1667029968, ss1711248178, ss1751957888, ss1806266657, ss1930543749, ss1967065639, ss2025997199, ss2154241498, ss2627468497, ss2632678982, ss2698467802, ss2885747172, ss2985551873, ss3005974240, ss3348973404, ss3626392695, ss3630706457, ss3633636526, ss3634391609, ss3635329298, ss3636072067, ss3637079894, ss3637835614, ss3640098957, ss3646402984, ss3673502505, ss3737082429, ss3744692469, ss3747774691, ss3772193179, ss3786590245, ss3791781988, ss3796663850, ss3825771568, ss3831980837, ss3839522116, ss3873581634, ss3921529619, ss3983973304, ss3986049212, ss4017472101, ss5196364295, ss5315453855, ss5509908859, ss5648720570, ss5799804591, ss5824008534, ss5940007126 NC_000010.10:13685765:G:A NC_000010.11:13643765:G:A (self)
63944861, 344049091, 344251, 23625021, 75079260, 58694618, 9528783229, ss2172833794, ss3026784170, ss3649296725, ss3689327161, ss3813135542, ss3844988616, ss3967247020, ss4843148963, ss5282997432, ss5478766982, ss5576418926, ss5741242156, ss5811216433, ss5849447866, ss5877824607 NC_000010.11:13643765:G:A NC_000010.11:13643765:G:A (self)
ss15316, ss1511972, ss4405508, ss16247543, ss38514871, ss66514170, ss75034674, ss76336960, ss81404522, ss97623895, ss102855897, ss120242417, ss131865240, ss154614588, ss160311941, ss172301454, ss244258450 NT_008705.16:13625765:G:A NC_000010.11:13643765:G:A (self)
ss16094517, ss19180023, ss20719861, ss61705021 NT_077569.2:8048661:G:A NC_000010.11:13643765:G:A (self)
28707013, ss3921529619 NC_000010.10:13685765:G:C NC_000010.11:13643765:G:C (self)
28707013, ss3921529619 NC_000010.10:13685765:G:T NC_000010.11:13643765:G:T (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

1 citation for rs13005
PMID Title Author Year Journal
25390939 MicroRNA related polymorphisms and breast cancer risk. Khan S et al. 2014 PloS one
Help

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
Top Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post761+d5e8e07