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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.

rs1002422

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr12:27635541 (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
A>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.299445 (79260/264690, TOPMED)
G=0.320218 (44851/140064, GnomAD)
G=0.36099 (25773/71396, ALFA) (+ 18 more)
G=0.18494 (5226/28258, 14KJPN)
G=0.18449 (3092/16760, 8.3KJPN)
G=0.2525 (1617/6404, 1000G_30x)
G=0.2548 (1276/5008, 1000G)
G=0.3596 (1386/3854, ALSPAC)
G=0.3692 (1369/3708, TWINSUK)
G=0.1229 (359/2922, KOREAN)
G=0.2510 (523/2084, HGDP_Stanford)
G=0.2495 (472/1892, HapMap)
G=0.1245 (228/1832, Korea1K)
G=0.394 (393/998, GoNL)
G=0.397 (238/600, NorthernSweden)
A=0.410 (105/256, SGDP_PRJ)
G=0.403 (87/216, Qatari)
G=0.097 (21/216, Vietnamese)
G=0.45 (28/62, Ancient Sardinia)
G=0.30 (12/40, GENOME_DK)
A=0.39 (11/28, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PPFIBP1 : Intron Variant
Publications
0 citations
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 71396 A=0.63901 G=0.36099
European Sub 58772 A=0.62195 G=0.37805
African Sub 4526 A=0.7660 G=0.2340
African Others Sub 170 A=0.788 G=0.212
African American Sub 4356 A=0.7652 G=0.2348
Asian Sub 190 A=0.911 G=0.089
East Asian Sub 148 A=0.899 G=0.101
Other Asian Sub 42 A=0.95 G=0.05
Latin American 1 Sub 254 A=0.673 G=0.327
Latin American 2 Sub 1232 A=0.7890 G=0.2110
South Asian Sub 4952 A=0.6650 G=0.3350
Other Sub 1470 A=0.6762 G=0.3238


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 A=0.700555 G=0.299445
gnomAD - Genomes Global Study-wide 140064 A=0.679782 G=0.320218
gnomAD - Genomes European Sub 75842 A=0.61389 G=0.38611
gnomAD - Genomes African Sub 41978 A=0.77064 G=0.22936
gnomAD - Genomes American Sub 13646 A=0.74190 G=0.25810
gnomAD - Genomes Ashkenazi Jewish Sub 3324 A=0.6104 G=0.3896
gnomAD - Genomes East Asian Sub 3126 A=0.8557 G=0.1443
gnomAD - Genomes Other Sub 2148 A=0.6872 G=0.3128
Allele Frequency Aggregator Total Global 71396 A=0.63901 G=0.36099
Allele Frequency Aggregator European Sub 58772 A=0.62195 G=0.37805
Allele Frequency Aggregator South Asian Sub 4952 A=0.6650 G=0.3350
Allele Frequency Aggregator African Sub 4526 A=0.7660 G=0.2340
Allele Frequency Aggregator Other Sub 1470 A=0.6762 G=0.3238
Allele Frequency Aggregator Latin American 2 Sub 1232 A=0.7890 G=0.2110
Allele Frequency Aggregator Latin American 1 Sub 254 A=0.673 G=0.327
Allele Frequency Aggregator Asian Sub 190 A=0.911 G=0.089
14KJPN JAPANESE Study-wide 28258 A=0.81506 G=0.18494
8.3KJPN JAPANESE Study-wide 16760 A=0.81551 G=0.18449
1000Genomes_30x Global Study-wide 6404 A=0.7475 G=0.2525
1000Genomes_30x African Sub 1786 A=0.7682 G=0.2318
1000Genomes_30x Europe Sub 1266 A=0.6390 G=0.3610
1000Genomes_30x South Asian Sub 1202 A=0.6805 G=0.3195
1000Genomes_30x East Asian Sub 1170 A=0.8598 G=0.1402
1000Genomes_30x American Sub 980 A=0.798 G=0.202
1000Genomes Global Study-wide 5008 A=0.7452 G=0.2548
1000Genomes African Sub 1322 A=0.7700 G=0.2300
1000Genomes East Asian Sub 1008 A=0.8562 G=0.1438
1000Genomes Europe Sub 1006 A=0.6342 G=0.3658
1000Genomes South Asian Sub 978 A=0.676 G=0.324
1000Genomes American Sub 694 A=0.795 G=0.205
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.6404 G=0.3596
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.6308 G=0.3692
KOREAN population from KRGDB KOREAN Study-wide 2922 A=0.8771 G=0.1229
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 A=0.7490 G=0.2510
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 A=0.849 G=0.151
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 A=0.638 G=0.362
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 A=0.634 G=0.366
HGDP-CEPH-db Supplement 1 Europe Sub 320 A=0.641 G=0.359
HGDP-CEPH-db Supplement 1 Africa Sub 242 A=0.839 G=0.161
HGDP-CEPH-db Supplement 1 America Sub 216 A=0.995 G=0.005
HGDP-CEPH-db Supplement 1 Oceania Sub 72 A=0.74 G=0.26
HapMap Global Study-wide 1892 A=0.7505 G=0.2495
HapMap American Sub 770 A=0.749 G=0.251
HapMap African Sub 692 A=0.775 G=0.225
HapMap Asian Sub 254 A=0.815 G=0.185
HapMap Europe Sub 176 A=0.568 G=0.432
Korean Genome Project KOREAN Study-wide 1832 A=0.8755 G=0.1245
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.606 G=0.394
Northern Sweden ACPOP Study-wide 600 A=0.603 G=0.397
SGDP_PRJ Global Study-wide 256 A=0.410 G=0.590
Qatari Global Study-wide 216 A=0.597 G=0.403
A Vietnamese Genetic Variation Database Global Study-wide 216 A=0.903 G=0.097
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 62 A=0.55 G=0.45
The Danish reference pan genome Danish Study-wide 40 A=0.70 G=0.30
Siberian Global Study-wide 28 A=0.39 G=0.61
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 12 NC_000012.12:g.27635541A>G
GRCh37.p13 chr 12 NC_000012.11:g.27788474A>G
Gene: PPFIBP1, PPFIA binding protein 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
PPFIBP1 transcript variant 3 NM_001198915.2:c.-189-105…

NM_001198915.2:c.-189-10521A>G

N/A Intron Variant
PPFIBP1 transcript variant 4 NM_001198916.2:c.270+426A…

NM_001198916.2:c.270+426A>G

N/A Intron Variant
PPFIBP1 transcript variant 1 NM_003622.4:c.270+426A>G N/A Intron Variant
PPFIBP1 transcript variant 2 NM_177444.3:c.270+426A>G N/A Intron Variant
PPFIBP1 transcript variant X40 XM_006719159.5:c.-189-105…

XM_006719159.5:c.-189-10521A>G

N/A Intron Variant
PPFIBP1 transcript variant X2 XM_017020056.3:c.270+426A…

XM_017020056.3:c.270+426A>G

N/A Intron Variant
PPFIBP1 transcript variant X3 XM_017020057.3:c.270+426A…

XM_017020057.3:c.270+426A>G

N/A Intron Variant
PPFIBP1 transcript variant X8 XM_017020058.3:c.270+426A…

XM_017020058.3:c.270+426A>G

N/A Intron Variant
PPFIBP1 transcript variant X7 XM_017020059.3:c.270+426A…

XM_017020059.3:c.270+426A>G

N/A Intron Variant
PPFIBP1 transcript variant X10 XM_017020061.3:c.270+426A…

XM_017020061.3:c.270+426A>G

N/A Intron Variant
PPFIBP1 transcript variant X13 XM_017020062.3:c.270+426A…

XM_017020062.3:c.270+426A>G

N/A Intron Variant
PPFIBP1 transcript variant X17 XM_017020063.3:c.270+426A…

XM_017020063.3:c.270+426A>G

N/A Intron Variant
PPFIBP1 transcript variant X18 XM_017020064.3:c.270+426A…

XM_017020064.3:c.270+426A>G

N/A Intron Variant
PPFIBP1 transcript variant X19 XM_017020065.3:c.270+426A…

XM_017020065.3:c.270+426A>G

N/A Intron Variant
PPFIBP1 transcript variant X20 XM_017020066.3:c.270+426A…

XM_017020066.3:c.270+426A>G

N/A Intron Variant
PPFIBP1 transcript variant X21 XM_017020067.3:c.270+426A…

XM_017020067.3:c.270+426A>G

N/A Intron Variant
PPFIBP1 transcript variant X22 XM_017020068.3:c.270+426A…

XM_017020068.3:c.270+426A>G

N/A Intron Variant
PPFIBP1 transcript variant X24 XM_017020069.3:c.270+426A…

XM_017020069.3:c.270+426A>G

N/A Intron Variant
PPFIBP1 transcript variant X25 XM_017020070.3:c.270+426A…

XM_017020070.3:c.270+426A>G

N/A Intron Variant
PPFIBP1 transcript variant X33 XM_017020071.3:c.270+426A…

XM_017020071.3:c.270+426A>G

N/A Intron Variant
PPFIBP1 transcript variant X30 XM_017020072.3:c.270+426A…

XM_017020072.3:c.270+426A>G

N/A Intron Variant
PPFIBP1 transcript variant X32 XM_017020073.3:c.270+426A…

XM_017020073.3:c.270+426A>G

N/A Intron Variant
PPFIBP1 transcript variant X43 XM_017020078.2:c.270+426A…

XM_017020078.2:c.270+426A>G

N/A Intron Variant
PPFIBP1 transcript variant X1 XM_024449232.2:c.270+426A…

XM_024449232.2:c.270+426A>G

N/A Intron Variant
PPFIBP1 transcript variant X4 XM_024449233.2:c.270+426A…

XM_024449233.2:c.270+426A>G

N/A Intron Variant
PPFIBP1 transcript variant X5 XM_024449234.2:c.270+426A…

XM_024449234.2:c.270+426A>G

N/A Intron Variant
PPFIBP1 transcript variant X6 XM_024449235.2:c.270+426A…

XM_024449235.2:c.270+426A>G

N/A Intron Variant
PPFIBP1 transcript variant X9 XM_024449236.2:c.270+426A…

XM_024449236.2:c.270+426A>G

N/A Intron Variant
PPFIBP1 transcript variant X11 XM_024449237.2:c.270+426A…

XM_024449237.2:c.270+426A>G

N/A Intron Variant
PPFIBP1 transcript variant X42 XM_024449238.2:c.270+426A…

XM_024449238.2:c.270+426A>G

N/A Intron Variant
PPFIBP1 transcript variant X12 XM_047429750.1:c.270+426A…

XM_047429750.1:c.270+426A>G

N/A Intron Variant
PPFIBP1 transcript variant X14 XM_047429751.1:c.270+426A…

XM_047429751.1:c.270+426A>G

N/A Intron Variant
PPFIBP1 transcript variant X15 XM_047429752.1:c.270+426A…

XM_047429752.1:c.270+426A>G

N/A Intron Variant
PPFIBP1 transcript variant X16 XM_047429753.1:c.270+426A…

XM_047429753.1:c.270+426A>G

N/A Intron Variant
PPFIBP1 transcript variant X23 XM_047429754.1:c.270+426A…

XM_047429754.1:c.270+426A>G

N/A Intron Variant
PPFIBP1 transcript variant X26 XM_047429755.1:c.270+426A…

XM_047429755.1:c.270+426A>G

N/A Intron Variant
PPFIBP1 transcript variant X27 XM_047429756.1:c.270+426A…

XM_047429756.1:c.270+426A>G

N/A Intron Variant
PPFIBP1 transcript variant X28 XM_047429757.1:c.270+426A…

XM_047429757.1:c.270+426A>G

N/A Intron Variant
PPFIBP1 transcript variant X29 XM_047429758.1:c.270+426A…

XM_047429758.1:c.270+426A>G

N/A Intron Variant
PPFIBP1 transcript variant X31 XM_047429759.1:c.270+426A…

XM_047429759.1:c.270+426A>G

N/A Intron Variant
PPFIBP1 transcript variant X34 XM_047429760.1:c.270+426A…

XM_047429760.1:c.270+426A>G

N/A Intron Variant
PPFIBP1 transcript variant X35 XM_047429761.1:c.270+426A…

XM_047429761.1:c.270+426A>G

N/A Intron Variant
PPFIBP1 transcript variant X36 XM_047429762.1:c.270+426A…

XM_047429762.1:c.270+426A>G

N/A Intron Variant
PPFIBP1 transcript variant X37 XM_047429763.1:c.270+426A…

XM_047429763.1:c.270+426A>G

N/A Intron Variant
PPFIBP1 transcript variant X38 XM_047429764.1:c.270+426A…

XM_047429764.1:c.270+426A>G

N/A Intron Variant
PPFIBP1 transcript variant X39 XM_047429765.1:c.270+426A…

XM_047429765.1:c.270+426A>G

N/A Intron Variant
PPFIBP1 transcript variant X44 XM_047429766.1:c.270+426A…

XM_047429766.1:c.270+426A>G

N/A Intron Variant
PPFIBP1 transcript variant X45 XM_047429767.1:c.270+426A…

XM_047429767.1:c.270+426A>G

N/A Intron Variant
PPFIBP1 transcript variant X46 XM_047429768.1:c.270+426A…

XM_047429768.1:c.270+426A>G

N/A Intron Variant
PPFIBP1 transcript variant X41 XM_017020076.3:c. N/A Genic Upstream Transcript 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 A= G
GRCh38.p14 chr 12 NC_000012.12:g.27635541= NC_000012.12:g.27635541A>G
GRCh37.p13 chr 12 NC_000012.11:g.27788474= NC_000012.11:g.27788474A>G
PPFIBP1 transcript variant 3 NM_001198915.1:c.-189-10521= NM_001198915.1:c.-189-10521A>G
PPFIBP1 transcript variant 3 NM_001198915.2:c.-189-10521= NM_001198915.2:c.-189-10521A>G
PPFIBP1 transcript variant 4 NM_001198916.1:c.270+426= NM_001198916.1:c.270+426A>G
PPFIBP1 transcript variant 4 NM_001198916.2:c.270+426= NM_001198916.2:c.270+426A>G
PPFIBP1 transcript variant 1 NM_003622.3:c.270+426= NM_003622.3:c.270+426A>G
PPFIBP1 transcript variant 1 NM_003622.4:c.270+426= NM_003622.4:c.270+426A>G
PPFIBP1 transcript variant 2 NM_177444.2:c.270+426= NM_177444.2:c.270+426A>G
PPFIBP1 transcript variant 2 NM_177444.3:c.270+426= NM_177444.3:c.270+426A>G
PPFIBP1 transcript variant X1 XM_005253505.1:c.270+426= XM_005253505.1:c.270+426A>G
PPFIBP1 transcript variant X2 XM_005253506.1:c.270+426= XM_005253506.1:c.270+426A>G
PPFIBP1 transcript variant X4 XM_005253507.1:c.270+426= XM_005253507.1:c.270+426A>G
PPFIBP1 transcript variant X5 XM_005253508.1:c.270+426= XM_005253508.1:c.270+426A>G
PPFIBP1 transcript variant X6 XM_005253509.1:c.270+426= XM_005253509.1:c.270+426A>G
PPFIBP1 transcript variant X6 XM_005253510.1:c.270+426= XM_005253510.1:c.270+426A>G
PPFIBP1 transcript variant X7 XM_005253511.1:c.270+426= XM_005253511.1:c.270+426A>G
PPFIBP1 transcript variant X8 XM_005253512.1:c.270+426= XM_005253512.1:c.270+426A>G
PPFIBP1 transcript variant X9 XM_005253513.1:c.270+426= XM_005253513.1:c.270+426A>G
PPFIBP1 transcript variant X8 XM_005253514.1:c.270+426= XM_005253514.1:c.270+426A>G
PPFIBP1 transcript variant X9 XM_005253515.1:c.270+426= XM_005253515.1:c.270+426A>G
PPFIBP1 transcript variant X10 XM_005253516.1:c.270+426= XM_005253516.1:c.270+426A>G
PPFIBP1 transcript variant X13 XM_005253517.1:c.270+426= XM_005253517.1:c.270+426A>G
PPFIBP1 transcript variant X40 XM_006719159.5:c.-189-10521= XM_006719159.5:c.-189-10521A>G
PPFIBP1 transcript variant X2 XM_017020056.3:c.270+426= XM_017020056.3:c.270+426A>G
PPFIBP1 transcript variant X3 XM_017020057.3:c.270+426= XM_017020057.3:c.270+426A>G
PPFIBP1 transcript variant X8 XM_017020058.3:c.270+426= XM_017020058.3:c.270+426A>G
PPFIBP1 transcript variant X7 XM_017020059.3:c.270+426= XM_017020059.3:c.270+426A>G
PPFIBP1 transcript variant X10 XM_017020061.3:c.270+426= XM_017020061.3:c.270+426A>G
PPFIBP1 transcript variant X13 XM_017020062.3:c.270+426= XM_017020062.3:c.270+426A>G
PPFIBP1 transcript variant X17 XM_017020063.3:c.270+426= XM_017020063.3:c.270+426A>G
PPFIBP1 transcript variant X18 XM_017020064.3:c.270+426= XM_017020064.3:c.270+426A>G
PPFIBP1 transcript variant X19 XM_017020065.3:c.270+426= XM_017020065.3:c.270+426A>G
PPFIBP1 transcript variant X20 XM_017020066.3:c.270+426= XM_017020066.3:c.270+426A>G
PPFIBP1 transcript variant X21 XM_017020067.3:c.270+426= XM_017020067.3:c.270+426A>G
PPFIBP1 transcript variant X22 XM_017020068.3:c.270+426= XM_017020068.3:c.270+426A>G
PPFIBP1 transcript variant X24 XM_017020069.3:c.270+426= XM_017020069.3:c.270+426A>G
PPFIBP1 transcript variant X25 XM_017020070.3:c.270+426= XM_017020070.3:c.270+426A>G
PPFIBP1 transcript variant X33 XM_017020071.3:c.270+426= XM_017020071.3:c.270+426A>G
PPFIBP1 transcript variant X30 XM_017020072.3:c.270+426= XM_017020072.3:c.270+426A>G
PPFIBP1 transcript variant X32 XM_017020073.3:c.270+426= XM_017020073.3:c.270+426A>G
PPFIBP1 transcript variant X43 XM_017020078.2:c.270+426= XM_017020078.2:c.270+426A>G
PPFIBP1 transcript variant X1 XM_024449232.2:c.270+426= XM_024449232.2:c.270+426A>G
PPFIBP1 transcript variant X4 XM_024449233.2:c.270+426= XM_024449233.2:c.270+426A>G
PPFIBP1 transcript variant X5 XM_024449234.2:c.270+426= XM_024449234.2:c.270+426A>G
PPFIBP1 transcript variant X6 XM_024449235.2:c.270+426= XM_024449235.2:c.270+426A>G
PPFIBP1 transcript variant X9 XM_024449236.2:c.270+426= XM_024449236.2:c.270+426A>G
PPFIBP1 transcript variant X11 XM_024449237.2:c.270+426= XM_024449237.2:c.270+426A>G
PPFIBP1 transcript variant X42 XM_024449238.2:c.270+426= XM_024449238.2:c.270+426A>G
PPFIBP1 transcript variant X12 XM_047429750.1:c.270+426= XM_047429750.1:c.270+426A>G
PPFIBP1 transcript variant X14 XM_047429751.1:c.270+426= XM_047429751.1:c.270+426A>G
PPFIBP1 transcript variant X15 XM_047429752.1:c.270+426= XM_047429752.1:c.270+426A>G
PPFIBP1 transcript variant X16 XM_047429753.1:c.270+426= XM_047429753.1:c.270+426A>G
PPFIBP1 transcript variant X23 XM_047429754.1:c.270+426= XM_047429754.1:c.270+426A>G
PPFIBP1 transcript variant X26 XM_047429755.1:c.270+426= XM_047429755.1:c.270+426A>G
PPFIBP1 transcript variant X27 XM_047429756.1:c.270+426= XM_047429756.1:c.270+426A>G
PPFIBP1 transcript variant X28 XM_047429757.1:c.270+426= XM_047429757.1:c.270+426A>G
PPFIBP1 transcript variant X29 XM_047429758.1:c.270+426= XM_047429758.1:c.270+426A>G
PPFIBP1 transcript variant X31 XM_047429759.1:c.270+426= XM_047429759.1:c.270+426A>G
PPFIBP1 transcript variant X34 XM_047429760.1:c.270+426= XM_047429760.1:c.270+426A>G
PPFIBP1 transcript variant X35 XM_047429761.1:c.270+426= XM_047429761.1:c.270+426A>G
PPFIBP1 transcript variant X36 XM_047429762.1:c.270+426= XM_047429762.1:c.270+426A>G
PPFIBP1 transcript variant X37 XM_047429763.1:c.270+426= XM_047429763.1:c.270+426A>G
PPFIBP1 transcript variant X38 XM_047429764.1:c.270+426= XM_047429764.1:c.270+426A>G
PPFIBP1 transcript variant X39 XM_047429765.1:c.270+426= XM_047429765.1:c.270+426A>G
PPFIBP1 transcript variant X44 XM_047429766.1:c.270+426= XM_047429766.1:c.270+426A>G
PPFIBP1 transcript variant X45 XM_047429767.1:c.270+426= XM_047429767.1:c.270+426A>G
PPFIBP1 transcript variant X46 XM_047429768.1:c.270+426= XM_047429768.1:c.270+426A>G
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#.

92 SubSNP, 21 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss1463170 Oct 05, 2000 (86)
2 WI_SSAHASNP ss6818493 Feb 20, 2003 (111)
3 SC_SNP ss15922079 Feb 27, 2004 (120)
4 CSHL-HAPMAP ss16584384 Feb 27, 2004 (120)
5 SSAHASNP ss20899686 Apr 05, 2004 (121)
6 PERLEGEN ss24611122 Sep 20, 2004 (123)
7 ABI ss38900819 Mar 15, 2006 (126)
8 ILLUMINA ss66792691 Dec 01, 2006 (127)
9 ILLUMINA ss66865021 Dec 01, 2006 (127)
10 ILLUMINA ss66935422 Dec 01, 2006 (127)
11 ILLUMINA ss70356514 May 18, 2007 (127)
12 ILLUMINA ss70460393 May 23, 2008 (130)
13 ILLUMINA ss70981077 May 18, 2007 (127)
14 ILLUMINA ss75851602 Dec 06, 2007 (129)
15 HGSV ss77146211 Dec 06, 2007 (129)
16 HGSV ss81118404 Dec 14, 2007 (130)
17 KRIBB_YJKIM ss83651503 Dec 14, 2007 (130)
18 BGI ss103034965 Dec 01, 2009 (131)
19 1000GENOMES ss111692623 Jan 25, 2009 (130)
20 ILLUMINA ss120241554 Dec 01, 2009 (131)
21 ILLUMINA ss121254161 Dec 01, 2009 (131)
22 ILLUMINA ss152545010 Dec 01, 2009 (131)
23 ILLUMINA ss159104295 Dec 01, 2009 (131)
24 COMPLETE_GENOMICS ss168028072 Jul 04, 2010 (132)
25 ILLUMINA ss169217018 Jul 04, 2010 (132)
26 ILLUMINA ss169528333 Jul 04, 2010 (132)
27 COMPLETE_GENOMICS ss170633867 Jul 04, 2010 (132)
28 BUSHMAN ss197927932 Jul 04, 2010 (132)
29 1000GENOMES ss211260137 Jul 14, 2010 (132)
30 1000GENOMES ss225669176 Jul 14, 2010 (132)
31 1000GENOMES ss235873604 Jul 15, 2010 (132)
32 1000GENOMES ss242441848 Jul 15, 2010 (132)
33 BL ss254977501 May 09, 2011 (134)
34 GMI ss281323081 May 04, 2012 (137)
35 ILLUMINA ss536566713 Sep 08, 2015 (146)
36 TISHKOFF ss563068573 Apr 25, 2013 (138)
37 SSMP ss658608228 Apr 25, 2013 (138)
38 ILLUMINA ss825326245 Apr 01, 2015 (144)
39 ILLUMINA ss832617088 Aug 21, 2014 (142)
40 ILLUMINA ss833207777 Aug 21, 2014 (142)
41 EVA-GONL ss989365680 Aug 21, 2014 (142)
42 JMKIDD_LAB ss1078342391 Aug 21, 2014 (142)
43 1000GENOMES ss1344383879 Aug 21, 2014 (142)
44 DDI ss1426882234 Apr 01, 2015 (144)
45 EVA_GENOME_DK ss1576184440 Apr 01, 2015 (144)
46 EVA_DECODE ss1599040036 Apr 01, 2015 (144)
47 EVA_UK10K_ALSPAC ss1628264888 Apr 01, 2015 (144)
48 EVA_UK10K_TWINSUK ss1671258921 Apr 01, 2015 (144)
49 EVA_SVP ss1713316780 Apr 01, 2015 (144)
50 HAMMER_LAB ss1807173462 Sep 08, 2015 (146)
51 WEILL_CORNELL_DGM ss1932728235 Feb 12, 2016 (147)
52 JJLAB ss2027113704 Sep 14, 2016 (149)
53 USC_VALOUEV ss2155440211 Dec 20, 2016 (150)
54 SYSTEMSBIOZJU ss2628036914 Nov 08, 2017 (151)
55 GRF ss2699770315 Nov 08, 2017 (151)
56 GNOMAD ss2908683235 Nov 08, 2017 (151)
57 SWEGEN ss3009405010 Nov 08, 2017 (151)
58 BIOINF_KMB_FNS_UNIBA ss3027364395 Nov 08, 2017 (151)
59 CSHL ss3349984238 Nov 08, 2017 (151)
60 ILLUMINA ss3626844827 Oct 12, 2018 (152)
61 ILLUMINA ss3637954696 Oct 12, 2018 (152)
62 ILLUMINA ss3638991421 Oct 12, 2018 (152)
63 ILLUMINA ss3639497636 Oct 12, 2018 (152)
64 ILLUMINA ss3642949057 Oct 12, 2018 (152)
65 EVA_DECODE ss3693350676 Jul 13, 2019 (153)
66 ACPOP ss3738878394 Jul 13, 2019 (153)
67 EVA ss3750285942 Jul 13, 2019 (153)
68 KHV_HUMAN_GENOMES ss3815605887 Jul 13, 2019 (153)
69 EVA ss3833040081 Apr 26, 2020 (154)
70 EVA ss3840088991 Apr 26, 2020 (154)
71 EVA ss3845573070 Apr 26, 2020 (154)
72 HGDP ss3847446144 Apr 26, 2020 (154)
73 SGDP_PRJ ss3877938789 Apr 26, 2020 (154)
74 KRGDB ss3926479923 Apr 26, 2020 (154)
75 KOGIC ss3971503653 Apr 26, 2020 (154)
76 EVA ss3985582806 Apr 27, 2021 (155)
77 EVA ss4017581127 Apr 27, 2021 (155)
78 TOPMED ss4912796465 Apr 27, 2021 (155)
79 TOMMO_GENOMICS ss5205598201 Apr 27, 2021 (155)
80 1000G_HIGH_COVERAGE ss5290220832 Oct 16, 2022 (156)
81 EVA ss5404664542 Oct 16, 2022 (156)
82 HUGCELL_USP ss5485067131 Oct 16, 2022 (156)
83 EVA ss5510635147 Oct 16, 2022 (156)
84 1000G_HIGH_COVERAGE ss5587355398 Oct 16, 2022 (156)
85 SANFORD_IMAGENETICS ss5652829181 Oct 16, 2022 (156)
86 TOMMO_GENOMICS ss5754550088 Oct 16, 2022 (156)
87 YY_MCH ss5813118429 Oct 16, 2022 (156)
88 EVA ss5837752421 Oct 16, 2022 (156)
89 EVA ss5850312005 Oct 16, 2022 (156)
90 EVA ss5903754647 Oct 16, 2022 (156)
91 EVA ss5944185145 Oct 16, 2022 (156)
92 EVA ss5980729272 Oct 16, 2022 (156)
93 1000Genomes NC_000012.11 - 27788474 Oct 12, 2018 (152)
94 1000Genomes_30x NC_000012.12 - 27635541 Oct 16, 2022 (156)
95 The Avon Longitudinal Study of Parents and Children NC_000012.11 - 27788474 Oct 12, 2018 (152)
96 The Danish reference pan genome NC_000012.11 - 27788474 Apr 26, 2020 (154)
97 gnomAD - Genomes NC_000012.12 - 27635541 Apr 27, 2021 (155)
98 Genome of the Netherlands Release 5 NC_000012.11 - 27788474 Apr 26, 2020 (154)
99 HGDP-CEPH-db Supplement 1 NC_000012.10 - 27679741 Apr 26, 2020 (154)
100 HapMap NC_000012.12 - 27635541 Apr 26, 2020 (154)
101 KOREAN population from KRGDB NC_000012.11 - 27788474 Apr 26, 2020 (154)
102 Korean Genome Project NC_000012.12 - 27635541 Apr 26, 2020 (154)
103 Northern Sweden NC_000012.11 - 27788474 Jul 13, 2019 (153)
104 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000012.11 - 27788474 Apr 27, 2021 (155)
105 Qatari NC_000012.11 - 27788474 Apr 26, 2020 (154)
106 SGDP_PRJ NC_000012.11 - 27788474 Apr 26, 2020 (154)
107 Siberian NC_000012.11 - 27788474 Apr 26, 2020 (154)
108 8.3KJPN NC_000012.11 - 27788474 Apr 27, 2021 (155)
109 14KJPN NC_000012.12 - 27635541 Oct 16, 2022 (156)
110 TopMed NC_000012.12 - 27635541 Apr 27, 2021 (155)
111 UK 10K study - Twins NC_000012.11 - 27788474 Oct 12, 2018 (152)
112 A Vietnamese Genetic Variation Database NC_000012.11 - 27788474 Jul 13, 2019 (153)
113 ALFA NC_000012.12 - 27635541 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)
rs17801333 Oct 08, 2004 (123)
rs56682894 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss77146211, ss81118404, ss3638991421, ss3639497636 NC_000012.9:27679740:A:G NC_000012.12:27635540:A:G (self)
124036, ss111692623, ss168028072, ss170633867, ss197927932, ss211260137, ss254977501, ss281323081, ss825326245, ss1599040036, ss1713316780, ss3642949057, ss3847446144 NC_000012.10:27679740:A:G NC_000012.12:27635540:A:G (self)
57109812, 31716038, 2896868, 14150956, 33657317, 12163259, 808733, 14770165, 29955769, 7956565, 63567508, 31716038, 7037894, ss225669176, ss235873604, ss242441848, ss536566713, ss563068573, ss658608228, ss832617088, ss833207777, ss989365680, ss1078342391, ss1344383879, ss1426882234, ss1576184440, ss1628264888, ss1671258921, ss1807173462, ss1932728235, ss2027113704, ss2155440211, ss2628036914, ss2699770315, ss2908683235, ss3009405010, ss3349984238, ss3626844827, ss3637954696, ss3738878394, ss3750285942, ss3833040081, ss3840088991, ss3877938789, ss3926479923, ss3985582806, ss4017581127, ss5205598201, ss5404664542, ss5510635147, ss5652829181, ss5837752421, ss5944185145, ss5980729272 NC_000012.11:27788473:A:G NC_000012.12:27635540:A:G (self)
74881333, 402687401, 782278, 27881654, 88387192, 128342122, 9440057845, ss3027364395, ss3693350676, ss3815605887, ss3845573070, ss3971503653, ss4912796465, ss5290220832, ss5485067131, ss5587355398, ss5754550088, ss5813118429, ss5850312005, ss5903754647 NC_000012.12:27635540:A:G NC_000012.12:27635540:A:G (self)
ss15922079, ss16584384, ss20899686 NT_009714.16:20547447:A:G NC_000012.12:27635540:A:G (self)
ss1463170, ss6818493, ss24611122, ss38900819, ss66792691, ss66865021, ss66935422, ss70356514, ss70460393, ss70981077, ss75851602, ss83651503, ss103034965, ss120241554, ss121254161, ss152545010, ss159104295, ss169217018, ss169528333 NT_009714.17:20548597:A:G NC_000012.12:27635540:A:G (self)
Help

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

No publications for rs1002422

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