Name: rs565327
Published: September 21, 2022
License: Open Access

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.

rs565327

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr9:76670039 (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
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.462484 (122415/264690, TOPMED)
G=0.35721 (22273/62352, ALFA)
G=0.32440 (9167/28258, 14KJPN) (+ 19 more)
G=0.32792 (5496/16760, 8.3KJPN)
G=0.4806 (3078/6404, 1000G_30x)
G=0.4663 (2335/5008, 1000G)
G=0.2750 (1232/4480, Estonian)
G=0.3054 (1177/3854, ALSPAC)
G=0.2934 (1088/3708, TWINSUK)
G=0.3765 (1103/2930, KOREAN)
G=0.3940 (821/2084, HGDP_Stanford)
G=0.4947 (933/1886, HapMap)
G=0.3777 (692/1832, Korea1K)
G=0.3289 (373/1134, Daghestan)
G=0.242 (242/998, GoNL)
G=0.248 (149/600, NorthernSweden)
G=0.279 (130/466, SGDP_PRJ)
G=0.500 (108/216, Qatari)
A=0.500 (108/216, Qatari)
A=0.463 (99/214, Vietnamese)
G=0.06 (3/50, Siberian)
G=0.20 (8/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: PRUNE2 : Intron Variant
LOC105376095 : 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	62352	G=0.35721	A=0.64279, C=0.00000
European	Sub	49820	G=0.30901	A=0.69099, C=0.00000
African	Sub	5818	G=0.7881	A=0.2119, C=0.0000
African Others	Sub	212	G=0.877	A=0.123, C=0.000
African American	Sub	5606	G=0.7847	A=0.2153, C=0.0000
Asian	Sub	100	G=0.52	A=0.48, C=0.00
East Asian	Sub	80	G=0.55	A=0.45, C=0.00
Other Asian	Sub	20	G=0.40	A=0.60, C=0.00
Latin American 1	Sub	136	G=0.632	A=0.368, C=0.000
Latin American 2	Sub	716	G=0.465	A=0.535, C=0.000
South Asian	Sub	4866	G=0.2869	A=0.7131, C=0.0000
Other	Sub	896	G=0.475	A=0.525, C=0.000

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=0.462484	A=0.537516
Allele Frequency Aggregator	Total	Global	62352	G=0.35721	A=0.64279, C=0.00000
Allele Frequency Aggregator	European	Sub	49820	G=0.30901	A=0.69099, C=0.00000
Allele Frequency Aggregator	African	Sub	5818	G=0.7881	A=0.2119, C=0.0000
Allele Frequency Aggregator	South Asian	Sub	4866	G=0.2869	A=0.7131, C=0.0000
Allele Frequency Aggregator	Other	Sub	896	G=0.475	A=0.525, C=0.000
Allele Frequency Aggregator	Latin American 2	Sub	716	G=0.465	A=0.535, C=0.000
Allele Frequency Aggregator	Latin American 1	Sub	136	G=0.632	A=0.368, C=0.000
Allele Frequency Aggregator	Asian	Sub	100	G=0.52	A=0.48, C=0.00
14KJPN	JAPANESE	Study-wide	28258	G=0.32440	A=0.67560
8.3KJPN	JAPANESE	Study-wide	16760	G=0.32792	A=0.67208
1000Genomes_30x	Global	Study-wide	6404	G=0.4806	A=0.5194
1000Genomes_30x	African	Sub	1786	G=0.7990	A=0.2010
1000Genomes_30x	Europe	Sub	1266	G=0.3223	A=0.6777
1000Genomes_30x	South Asian	Sub	1202	G=0.2937	A=0.7063
1000Genomes_30x	East Asian	Sub	1170	G=0.4333	A=0.5667
1000Genomes_30x	American	Sub	980	G=0.391	A=0.609
1000Genomes	Global	Study-wide	5008	G=0.4663	A=0.5337
1000Genomes	African	Sub	1322	G=0.7874	A=0.2126
1000Genomes	East Asian	Sub	1008	G=0.4226	A=0.5774
1000Genomes	Europe	Sub	1006	G=0.3131	A=0.6869
1000Genomes	South Asian	Sub	978	G=0.289	A=0.711
1000Genomes	American	Sub	694	G=0.389	A=0.611
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.2750	A=0.7250
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.3054	A=0.6946
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.2934	A=0.7066
KOREAN population from KRGDB	KOREAN	Study-wide	2930	G=0.3765	A=0.6235
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	G=0.3940	A=0.6060
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	G=0.413	A=0.587
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	G=0.266	A=0.734
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	G=0.480	A=0.520
HGDP-CEPH-db Supplement 1	Europe	Sub	320	G=0.338	A=0.662
HGDP-CEPH-db Supplement 1	Africa	Sub	242	G=0.707	A=0.293
HGDP-CEPH-db Supplement 1	America	Sub	216	G=0.241	A=0.759
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	G=0.25	A=0.75
HapMap	Global	Study-wide	1886	G=0.4947	A=0.5053
HapMap	American	Sub	768	G=0.389	A=0.611
HapMap	African	Sub	688	G=0.696	A=0.304
HapMap	Asian	Sub	254	G=0.382	A=0.618
HapMap	Europe	Sub	176	G=0.330	A=0.670
Korean Genome Project	KOREAN	Study-wide	1832	G=0.3777	A=0.6223
Genome-wide autozygosity in Daghestan	Global	Study-wide	1134	G=0.3289	A=0.6711
Genome-wide autozygosity in Daghestan	Daghestan	Sub	628	G=0.339	A=0.661
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	G=0.368	A=0.632
Genome-wide autozygosity in Daghestan	Central Asia	Sub	120	G=0.267	A=0.733
Genome-wide autozygosity in Daghestan	Europe	Sub	108	G=0.352	A=0.648
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	G=0.23	A=0.77
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	G=0.39	A=0.61
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.242	A=0.758
Northern Sweden	ACPOP	Study-wide	600	G=0.248	A=0.752
SGDP_PRJ	Global	Study-wide	466	G=0.279	A=0.721
Qatari	Global	Study-wide	216	G=0.500	A=0.500
A Vietnamese Genetic Variation Database	Global	Study-wide	214	G=0.537	A=0.463
Siberian	Global	Study-wide	50	G=0.06	A=0.94
The Danish reference pan genome	Danish	Study-wide	40	G=0.20	A=0.80

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 9	NC_000009.12:g.76670039G>A
GRCh38.p14 chr 9	NC_000009.12:g.76670039G>C
GRCh37.p13 chr 9	NC_000009.11:g.79284955G>A
GRCh37.p13 chr 9	NC_000009.11:g.79284955G>C

Gene: PRUNE2, prune homolog 2 with BCH domain (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
PRUNE2 transcript variant 2	NM_001308047.2:c.8277-145… NM_001308047.2:c.8277-14537C>T	N/A	Intron Variant
PRUNE2 transcript variant 3	NM_001308048.2:c.8277-145… NM_001308048.2:c.8277-14537C>T	N/A	Intron Variant
PRUNE2 transcript variant 4	NM_001308049.2:c.24-14537… NM_001308049.2:c.24-14537C>T	N/A	Intron Variant
PRUNE2 transcript variant 5	NM_001308050.2:c.69-14537… NM_001308050.2:c.69-14537C>T	N/A	Intron Variant
PRUNE2 transcript variant 6	NM_001308051.2:c.69-14537… NM_001308051.2:c.69-14537C>T	N/A	Intron Variant
PRUNE2 transcript variant 8	NM_001330680.2:c.69-14537… NM_001330680.2:c.69-14537C>T	N/A	Intron Variant
PRUNE2 transcript variant 1	NM_015225.3:c.8277-14537C… NM_015225.3:c.8277-14537C>T	N/A	Intron Variant
PRUNE2 transcript variant 7	NR_131751.2:n.	N/A	Intron Variant
PRUNE2 transcript variant X7	XM_005251745.2:c.8277-145… XM_005251745.2:c.8277-14537C>T	N/A	Intron Variant
PRUNE2 transcript variant X8	XM_005251746.2:c.8277-145… XM_005251746.2:c.8277-14537C>T	N/A	Intron Variant
PRUNE2 transcript variant X9	XM_005251748.2:c.8277-145… XM_005251748.2:c.8277-14537C>T	N/A	Intron Variant
PRUNE2 transcript variant X11	XM_005251750.2:c.8277-145… XM_005251750.2:c.8277-14537C>T	N/A	Intron Variant
PRUNE2 transcript variant X20	XM_005251751.2:c.8277-145… XM_005251751.2:c.8277-14537C>T	N/A	Intron Variant
PRUNE2 transcript variant X26	XM_005251754.3:c.8277-145… XM_005251754.3:c.8277-14537C>T	N/A	Intron Variant
PRUNE2 transcript variant X1	XM_006716982.2:c.8277-145… XM_006716982.2:c.8277-14537C>T	N/A	Intron Variant
PRUNE2 transcript variant X2	XM_006716983.2:c.8277-145… XM_006716983.2:c.8277-14537C>T	N/A	Intron Variant
PRUNE2 transcript variant X5	XM_006716984.3:c.8277-145… XM_006716984.3:c.8277-14537C>T	N/A	Intron Variant
PRUNE2 transcript variant X3	XM_006716985.2:c.8277-145… XM_006716985.2:c.8277-14537C>T	N/A	Intron Variant
PRUNE2 transcript variant X6	XM_006716986.2:c.8277-145… XM_006716986.2:c.8277-14537C>T	N/A	Intron Variant
PRUNE2 transcript variant X10	XM_011518323.3:c.8277-145… XM_011518323.3:c.8277-14537C>T	N/A	Intron Variant
PRUNE2 transcript variant X15	XM_011518326.3:c.8277-145… XM_011518326.3:c.8277-14537C>T	N/A	Intron Variant
PRUNE2 transcript variant X16	XM_011518327.2:c.8277-145… XM_011518327.2:c.8277-14537C>T	N/A	Intron Variant
PRUNE2 transcript variant X23	XM_011518328.3:c.8277-145… XM_011518328.3:c.8277-14537C>T	N/A	Intron Variant
PRUNE2 transcript variant X13	XM_017014346.2:c.8277-145… XM_017014346.2:c.8277-14537C>T	N/A	Intron Variant
PRUNE2 transcript variant X18	XM_017014348.2:c.8277-145… XM_017014348.2:c.8277-14537C>T	N/A	Intron Variant
PRUNE2 transcript variant X19	XM_017014349.2:c.8277-145… XM_017014349.2:c.8277-14537C>T	N/A	Intron Variant
PRUNE2 transcript variant X21	XM_017014351.2:c.8277-145… XM_017014351.2:c.8277-14537C>T	N/A	Intron Variant
PRUNE2 transcript variant X24	XM_017014352.2:c.8277-145… XM_017014352.2:c.8277-14537C>T	N/A	Intron Variant
PRUNE2 transcript variant X25	XM_017014353.3:c.8277-145… XM_017014353.3:c.8277-14537C>T	N/A	Intron Variant
PRUNE2 transcript variant X31	XM_017014354.3:c.69-14537… XM_017014354.3:c.69-14537C>T	N/A	Intron Variant
PRUNE2 transcript variant X32	XM_017014356.3:c.69-14537… XM_017014356.3:c.69-14537C>T	N/A	Intron Variant
PRUNE2 transcript variant X33	XM_017014357.3:c.69-14537… XM_017014357.3:c.69-14537C>T	N/A	Intron Variant
PRUNE2 transcript variant X34	XM_017014359.3:c.69-14537… XM_017014359.3:c.69-14537C>T	N/A	Intron Variant
PRUNE2 transcript variant X4	XM_047422876.1:c.8277-145… XM_047422876.1:c.8277-14537C>T	N/A	Intron Variant
PRUNE2 transcript variant X12	XM_047422878.1:c.8277-145… XM_047422878.1:c.8277-14537C>T	N/A	Intron Variant
PRUNE2 transcript variant X14	XM_047422879.1:c.8277-145… XM_047422879.1:c.8277-14537C>T	N/A	Intron Variant
PRUNE2 transcript variant X17	XM_047422880.1:c.8277-145… XM_047422880.1:c.8277-14537C>T	N/A	Intron Variant
PRUNE2 transcript variant X22	XM_047422881.1:c.8277-145… XM_047422881.1:c.8277-14537C>T	N/A	Intron Variant
PRUNE2 transcript variant X27	XM_047422882.1:c.8277-145… XM_047422882.1:c.8277-14537C>T	N/A	Intron Variant
PRUNE2 transcript variant X28	XM_047422883.1:c.8277-145… XM_047422883.1:c.8277-14537C>T	N/A	Intron Variant
PRUNE2 transcript variant X29	XM_047422884.1:c.8277-145… XM_047422884.1:c.8277-14537C>T	N/A	Intron Variant
PRUNE2 transcript variant X30	XM_047422885.1:c.7749-145… XM_047422885.1:c.7749-14537C>T	N/A	Intron Variant

Gene: LOC105376095, uncharacterized LOC105376095 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LOC105376095 transcript variant X3	XR_007061588.1:n.	N/A	Intron Variant
LOC105376095 transcript variant X5	XR_007061590.1:n.	N/A	Intron Variant
LOC105376095 transcript variant X11	XR_007061595.1:n.	N/A	Intron Variant
LOC105376095 transcript variant X10	XR_002956900.2:n.	N/A	Genic Downstream Transcript Variant
LOC105376095 transcript variant X1	XR_007061586.1:n.	N/A	Genic Downstream Transcript Variant
LOC105376095 transcript variant X2	XR_007061587.1:n.	N/A	Genic Downstream Transcript Variant
LOC105376095 transcript variant X4	XR_007061589.1:n.	N/A	Genic Downstream Transcript Variant
LOC105376095 transcript variant X6	XR_007061591.1:n.	N/A	Genic Downstream Transcript Variant
LOC105376095 transcript variant X7	XR_007061592.1:n.	N/A	Genic Downstream Transcript Variant
LOC105376095 transcript variant X8	XR_007061593.1:n.	N/A	Genic Downstream Transcript Variant
LOC105376095 transcript variant X9	XR_007061594.1:n.	N/A	Genic Downstream Transcript Variant
LOC105376095 transcript variant X12	XR_007061596.1:n.	N/A	Genic Downstream Transcript Variant
LOC105376095 transcript variant X13	XR_007061597.1:n.	N/A	Genic Downstream Transcript Variant

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

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
GRCh38.p14 chr 9	NC_000009.12:g.76670039=	NC_000009.12:g.76670039G>A	NC_000009.12:g.76670039G>C
GRCh37.p13 chr 9	NC_000009.11:g.79284955=	NC_000009.11:g.79284955G>A	NC_000009.11:g.79284955G>C
PRUNE2 transcript variant 2	NM_001308047.2:c.8277-14537=	NM_001308047.2:c.8277-14537C>T	NM_001308047.2:c.8277-14537C>G
PRUNE2 transcript variant 3	NM_001308048.2:c.8277-14537=	NM_001308048.2:c.8277-14537C>T	NM_001308048.2:c.8277-14537C>G
PRUNE2 transcript variant 4	NM_001308049.2:c.24-14537=	NM_001308049.2:c.24-14537C>T	NM_001308049.2:c.24-14537C>G
PRUNE2 transcript variant 5	NM_001308050.2:c.69-14537=	NM_001308050.2:c.69-14537C>T	NM_001308050.2:c.69-14537C>G
PRUNE2 transcript variant 6	NM_001308051.2:c.69-14537=	NM_001308051.2:c.69-14537C>T	NM_001308051.2:c.69-14537C>G
PRUNE2 transcript variant 8	NM_001330680.2:c.69-14537=	NM_001330680.2:c.69-14537C>T	NM_001330680.2:c.69-14537C>G
PRUNE2 transcript variant 1	NM_015225.2:c.8277-14537=	NM_015225.2:c.8277-14537C>T	NM_015225.2:c.8277-14537C>G
PRUNE2 transcript variant 1	NM_015225.3:c.8277-14537=	NM_015225.3:c.8277-14537C>T	NM_015225.3:c.8277-14537C>G
PRUNE2 transcript variant X7	XM_005251745.1:c.8277-14537=	XM_005251745.1:c.8277-14537C>T	XM_005251745.1:c.8277-14537C>G
PRUNE2 transcript variant X7	XM_005251745.2:c.8277-14537=	XM_005251745.2:c.8277-14537C>T	XM_005251745.2:c.8277-14537C>G
PRUNE2 transcript variant X8	XM_005251746.1:c.8277-14537=	XM_005251746.1:c.8277-14537C>T	XM_005251746.1:c.8277-14537C>G
PRUNE2 transcript variant X8	XM_005251746.2:c.8277-14537=	XM_005251746.2:c.8277-14537C>T	XM_005251746.2:c.8277-14537C>G
PRUNE2 transcript variant X3	XM_005251747.1:c.8277-14537=	XM_005251747.1:c.8277-14537C>T	XM_005251747.1:c.8277-14537C>G
PRUNE2 transcript variant X10	XM_005251748.1:c.8277-14537=	XM_005251748.1:c.8277-14537C>T	XM_005251748.1:c.8277-14537C>G
PRUNE2 transcript variant X9	XM_005251748.2:c.8277-14537=	XM_005251748.2:c.8277-14537C>T	XM_005251748.2:c.8277-14537C>G
PRUNE2 transcript variant X5	XM_005251749.1:c.8277-14537=	XM_005251749.1:c.8277-14537C>T	XM_005251749.1:c.8277-14537C>G
PRUNE2 transcript variant X13	XM_005251750.1:c.8277-14537=	XM_005251750.1:c.8277-14537C>T	XM_005251750.1:c.8277-14537C>G
PRUNE2 transcript variant X11	XM_005251750.2:c.8277-14537=	XM_005251750.2:c.8277-14537C>T	XM_005251750.2:c.8277-14537C>G
PRUNE2 transcript variant X20	XM_005251751.1:c.8277-14537=	XM_005251751.1:c.8277-14537C>T	XM_005251751.1:c.8277-14537C>G
PRUNE2 transcript variant X20	XM_005251751.2:c.8277-14537=	XM_005251751.2:c.8277-14537C>T	XM_005251751.2:c.8277-14537C>G
PRUNE2 transcript variant X18	XM_005251752.1:c.8277-14537=	XM_005251752.1:c.8277-14537C>T	XM_005251752.1:c.8277-14537C>G
PRUNE2 transcript variant X19	XM_005251753.1:c.8277-14537=	XM_005251753.1:c.8277-14537C>T	XM_005251753.1:c.8277-14537C>G
PRUNE2 transcript variant X28	XM_005251754.1:c.8277-14537=	XM_005251754.1:c.8277-14537C>T	XM_005251754.1:c.8277-14537C>G
PRUNE2 transcript variant X26	XM_005251754.3:c.8277-14537=	XM_005251754.3:c.8277-14537C>T	XM_005251754.3:c.8277-14537C>G
PRUNE2 transcript variant X1	XM_006716982.2:c.8277-14537=	XM_006716982.2:c.8277-14537C>T	XM_006716982.2:c.8277-14537C>G
PRUNE2 transcript variant X2	XM_006716983.2:c.8277-14537=	XM_006716983.2:c.8277-14537C>T	XM_006716983.2:c.8277-14537C>G
PRUNE2 transcript variant X5	XM_006716984.3:c.8277-14537=	XM_006716984.3:c.8277-14537C>T	XM_006716984.3:c.8277-14537C>G
PRUNE2 transcript variant X3	XM_006716985.2:c.8277-14537=	XM_006716985.2:c.8277-14537C>T	XM_006716985.2:c.8277-14537C>G
PRUNE2 transcript variant X6	XM_006716986.2:c.8277-14537=	XM_006716986.2:c.8277-14537C>T	XM_006716986.2:c.8277-14537C>G
PRUNE2 transcript variant X10	XM_011518323.3:c.8277-14537=	XM_011518323.3:c.8277-14537C>T	XM_011518323.3:c.8277-14537C>G
PRUNE2 transcript variant X15	XM_011518326.3:c.8277-14537=	XM_011518326.3:c.8277-14537C>T	XM_011518326.3:c.8277-14537C>G
PRUNE2 transcript variant X16	XM_011518327.2:c.8277-14537=	XM_011518327.2:c.8277-14537C>T	XM_011518327.2:c.8277-14537C>G
PRUNE2 transcript variant X23	XM_011518328.3:c.8277-14537=	XM_011518328.3:c.8277-14537C>T	XM_011518328.3:c.8277-14537C>G
PRUNE2 transcript variant X13	XM_017014346.2:c.8277-14537=	XM_017014346.2:c.8277-14537C>T	XM_017014346.2:c.8277-14537C>G
PRUNE2 transcript variant X18	XM_017014348.2:c.8277-14537=	XM_017014348.2:c.8277-14537C>T	XM_017014348.2:c.8277-14537C>G
PRUNE2 transcript variant X19	XM_017014349.2:c.8277-14537=	XM_017014349.2:c.8277-14537C>T	XM_017014349.2:c.8277-14537C>G
PRUNE2 transcript variant X21	XM_017014351.2:c.8277-14537=	XM_017014351.2:c.8277-14537C>T	XM_017014351.2:c.8277-14537C>G
PRUNE2 transcript variant X24	XM_017014352.2:c.8277-14537=	XM_017014352.2:c.8277-14537C>T	XM_017014352.2:c.8277-14537C>G
PRUNE2 transcript variant X25	XM_017014353.3:c.8277-14537=	XM_017014353.3:c.8277-14537C>T	XM_017014353.3:c.8277-14537C>G
PRUNE2 transcript variant X31	XM_017014354.3:c.69-14537=	XM_017014354.3:c.69-14537C>T	XM_017014354.3:c.69-14537C>G
PRUNE2 transcript variant X32	XM_017014356.3:c.69-14537=	XM_017014356.3:c.69-14537C>T	XM_017014356.3:c.69-14537C>G
PRUNE2 transcript variant X33	XM_017014357.3:c.69-14537=	XM_017014357.3:c.69-14537C>T	XM_017014357.3:c.69-14537C>G
PRUNE2 transcript variant X34	XM_017014359.3:c.69-14537=	XM_017014359.3:c.69-14537C>T	XM_017014359.3:c.69-14537C>G
PRUNE2 transcript variant X4	XM_047422876.1:c.8277-14537=	XM_047422876.1:c.8277-14537C>T	XM_047422876.1:c.8277-14537C>G
PRUNE2 transcript variant X12	XM_047422878.1:c.8277-14537=	XM_047422878.1:c.8277-14537C>T	XM_047422878.1:c.8277-14537C>G
PRUNE2 transcript variant X14	XM_047422879.1:c.8277-14537=	XM_047422879.1:c.8277-14537C>T	XM_047422879.1:c.8277-14537C>G
PRUNE2 transcript variant X17	XM_047422880.1:c.8277-14537=	XM_047422880.1:c.8277-14537C>T	XM_047422880.1:c.8277-14537C>G
PRUNE2 transcript variant X22	XM_047422881.1:c.8277-14537=	XM_047422881.1:c.8277-14537C>T	XM_047422881.1:c.8277-14537C>G
PRUNE2 transcript variant X27	XM_047422882.1:c.8277-14537=	XM_047422882.1:c.8277-14537C>T	XM_047422882.1:c.8277-14537C>G
PRUNE2 transcript variant X28	XM_047422883.1:c.8277-14537=	XM_047422883.1:c.8277-14537C>T	XM_047422883.1:c.8277-14537C>G
PRUNE2 transcript variant X29	XM_047422884.1:c.8277-14537=	XM_047422884.1:c.8277-14537C>T	XM_047422884.1:c.8277-14537C>G
PRUNE2 transcript variant X30	XM_047422885.1:c.7749-14537=	XM_047422885.1:c.7749-14537C>T	XM_047422885.1:c.7749-14537C>G

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#.

104 SubSNP, 23 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_JCM	ss736535	Aug 11, 2000 (83)
2	KWOK	ss946233	Oct 04, 2000 (86)
3	KWOK	ss946837	Oct 04, 2000 (86)
4	KWOK	ss1573770	Oct 18, 2000 (87)
5	TSC-CSHL	ss4082224	Nov 05, 2001 (101)
6	WI_SSAHASNP	ss12022369	Jul 11, 2003 (116)
7	SC_SNP	ss15971102	Feb 27, 2004 (120)
8	SSAHASNP	ss22782901	Apr 05, 2004 (121)
9	PERLEGEN	ss24206417	Sep 20, 2004 (123)
10	ABI	ss43323279	Mar 13, 2006 (126)
11	ILLUMINA	ss66545491	Dec 01, 2006 (127)
12	ILLUMINA	ss67418492	Dec 01, 2006 (127)
13	ILLUMINA	ss67780270	Dec 01, 2006 (127)
14	ILLUMINA	ss70846074	May 24, 2008 (130)
15	ILLUMINA	ss71430672	May 17, 2007 (127)
16	ILLUMINA	ss75548493	Dec 07, 2007 (129)
17	HGSV	ss78072482	Dec 07, 2007 (129)
18	ILLUMINA	ss79209015	Dec 15, 2007 (130)
19	KRIBB_YJKIM	ss83485161	Dec 15, 2007 (130)
20	HUMANGENOME_JCVI	ss97803908	Feb 04, 2009 (130)
21	BGI	ss104624154	Feb 23, 2009 (131)
22	1000GENOMES	ss108822779	Jan 23, 2009 (130)
23	ILLUMINA-UK	ss115740966	Feb 14, 2009 (130)
24	ILLUMINA	ss122469853	Dec 01, 2009 (131)
25	ENSEMBL	ss134080484	Dec 01, 2009 (131)
26	ILLUMINA	ss154339843	Dec 01, 2009 (131)
27	GMI	ss157605915	Dec 01, 2009 (131)
28	ILLUMINA	ss159516424	Dec 01, 2009 (131)
29	COMPLETE_GENOMICS	ss164236713	Jul 04, 2010 (132)
30	COMPLETE_GENOMICS	ss166548128	Jul 04, 2010 (132)
31	ILLUMINA	ss172034795	Jul 04, 2010 (132)
32	ILLUMINA	ss173923318	Jul 04, 2010 (132)
33	BUSHMAN	ss200467791	Jul 04, 2010 (132)
34	BCM-HGSC-SUB	ss206736404	Jul 04, 2010 (132)
35	1000GENOMES	ss224275835	Jul 14, 2010 (132)
36	1000GENOMES	ss234839646	Jul 15, 2010 (132)
37	1000GENOMES	ss241610232	Jul 15, 2010 (132)
38	BL	ss254312277	May 09, 2011 (134)
39	GMI	ss280268193	May 04, 2012 (137)
40	GMI	ss286037377	Apr 25, 2013 (138)
41	PJP	ss294294246	May 09, 2011 (134)
42	ILLUMINA	ss537312120	Sep 08, 2015 (146)
43	TISHKOFF	ss561418428	Apr 25, 2013 (138)
44	SSMP	ss655907278	Apr 25, 2013 (138)
45	ILLUMINA	ss825539533	Apr 01, 2015 (144)
46	ILLUMINA	ss833027716	Jul 13, 2019 (153)
47	EVA-GONL	ss986625345	Aug 21, 2014 (142)
48	JMKIDD_LAB	ss1076345611	Aug 21, 2014 (142)
49	1000GENOMES	ss1334126948	Aug 21, 2014 (142)
50	HAMMER_LAB	ss1397557628	Sep 08, 2015 (146)
51	DDI	ss1431858904	Apr 01, 2015 (144)
52	EVA_GENOME_DK	ss1583122220	Apr 01, 2015 (144)
53	EVA_DECODE	ss1596255509	Apr 01, 2015 (144)
54	EVA_UK10K_ALSPAC	ss1622850054	Apr 01, 2015 (144)
55	EVA_UK10K_TWINSUK	ss1665844087	Apr 01, 2015 (144)
56	EVA_SVP	ss1713113539	Apr 01, 2015 (144)
57	HAMMER_LAB	ss1806009171	Sep 08, 2015 (146)
58	WEILL_CORNELL_DGM	ss1929940764	Feb 12, 2016 (147)
59	GENOMED	ss1971228848	Jul 19, 2016 (147)
60	JJLAB	ss2025685943	Sep 14, 2016 (149)
61	USC_VALOUEV	ss2153910795	Dec 20, 2016 (150)
62	HUMAN_LONGEVITY	ss2311724552	Dec 20, 2016 (150)
63	SYSTEMSBIOZJU	ss2627310306	Nov 08, 2017 (151)
64	GRF	ss2709774921	Nov 08, 2017 (151)
65	GNOMAD	ss2879441864	Nov 08, 2017 (151)
66	SWEGEN	ss3005047546	Nov 08, 2017 (151)
67	BIOINF_KMB_FNS_UNIBA	ss3026624539	Nov 08, 2017 (151)
68	CSHL	ss3348701168	Nov 08, 2017 (151)
69	ILLUMINA	ss3630277890	Oct 12, 2018 (152)
70	ILLUMINA	ss3638816641	Oct 12, 2018 (152)
71	ILLUMINA	ss3639413226	Oct 12, 2018 (152)
72	ILLUMINA	ss3639739415	Oct 12, 2018 (152)
73	ILLUMINA	ss3643743228	Oct 12, 2018 (152)
74	URBANLAB	ss3649170707	Oct 12, 2018 (152)
75	EGCUT_WGS	ss3672587877	Jul 13, 2019 (153)
76	EVA_DECODE	ss3724094753	Jul 13, 2019 (153)
77	ACPOP	ss3736582548	Jul 13, 2019 (153)
78	EVA	ss3769275294	Jul 13, 2019 (153)
79	PACBIO	ss3786434709	Jul 13, 2019 (153)
80	PACBIO	ss3791648667	Jul 13, 2019 (153)
81	PACBIO	ss3796529979	Jul 13, 2019 (153)
82	KHV_HUMAN_GENOMES	ss3812444087	Jul 13, 2019 (153)
83	EVA	ss3831689173	Apr 26, 2020 (154)
84	EVA	ss3839372526	Apr 26, 2020 (154)
85	EVA	ss3844835256	Apr 26, 2020 (154)
86	HGDP	ss3847950520	Apr 26, 2020 (154)
87	SGDP_PRJ	ss3872375378	Apr 26, 2020 (154)
88	KRGDB	ss3920170918	Apr 26, 2020 (154)
89	KOGIC	ss3966078601	Apr 26, 2020 (154)
90	TOPMED	ss4823911225	Apr 27, 2021 (155)
91	TOMMO_GENOMICS	ss5193789447	Apr 27, 2021 (155)
92	1000G_HIGH_COVERAGE	ss5281009224	Oct 16, 2022 (156)
93	EVA	ss5388133157	Oct 16, 2022 (156)
94	HUGCELL_USP	ss5476998236	Oct 16, 2022 (156)
95	EVA	ss5509730500	Oct 16, 2022 (156)
96	1000G_HIGH_COVERAGE	ss5573483581	Oct 16, 2022 (156)
97	SANFORD_IMAGENETICS	ss5647602455	Oct 16, 2022 (156)
98	TOMMO_GENOMICS	ss5737872810	Oct 16, 2022 (156)
99	YY_MCH	ss5810709570	Oct 16, 2022 (156)
100	EVA	ss5829287523	Oct 16, 2022 (156)
101	EVA	ss5856793631	Oct 16, 2022 (156)
102	EVA	ss5916688730	Oct 16, 2022 (156)
103	EVA	ss5976782382	Oct 16, 2022 (156)
104	EVA	ss5980558970	Oct 16, 2022 (156)
105	1000Genomes	NC_000009.11 - 79284955	Oct 12, 2018 (152)
106	1000Genomes_30x	NC_000009.12 - 76670039	Oct 16, 2022 (156)
107	The Avon Longitudinal Study of Parents and Children	NC_000009.11 - 79284955	Oct 12, 2018 (152)
108	Genome-wide autozygosity in Daghestan	NC_000009.10 - 78474775	Apr 26, 2020 (154)
109	Genetic variation in the Estonian population	NC_000009.11 - 79284955	Oct 12, 2018 (152)
110	The Danish reference pan genome	NC_000009.11 - 79284955	Apr 26, 2020 (154)
111	gnomAD - Genomes Submission ignored due to conflicting rows: Row 328043906 (NC_000009.12:76670038:G:A 78624/139976) Row 328043907 (NC_000009.12:76670038:G:C 8/140034)	-	Apr 27, 2021 (155)
112	gnomAD - Genomes Submission ignored due to conflicting rows: Row 328043906 (NC_000009.12:76670038:G:A 78624/139976) Row 328043907 (NC_000009.12:76670038:G:C 8/140034)	-	Apr 27, 2021 (155)
113	Genome of the Netherlands Release 5	NC_000009.11 - 79284955	Apr 26, 2020 (154)
114	HGDP-CEPH-db Supplement 1	NC_000009.10 - 78474775	Apr 26, 2020 (154)
115	HapMap	NC_000009.12 - 76670039	Apr 26, 2020 (154)
116	KOREAN population from KRGDB	NC_000009.11 - 79284955	Apr 26, 2020 (154)
117	Korean Genome Project	NC_000009.12 - 76670039	Apr 26, 2020 (154)
118	Northern Sweden	NC_000009.11 - 79284955	Jul 13, 2019 (153)
119	Qatari	NC_000009.11 - 79284955	Apr 26, 2020 (154)
120	SGDP_PRJ	NC_000009.11 - 79284955	Apr 26, 2020 (154)
121	Siberian	NC_000009.11 - 79284955	Apr 26, 2020 (154)
122	8.3KJPN	NC_000009.11 - 79284955	Apr 27, 2021 (155)
123	14KJPN	NC_000009.12 - 76670039	Oct 16, 2022 (156)
124	TopMed	NC_000009.12 - 76670039	Apr 27, 2021 (155)
125	UK 10K study - Twins	NC_000009.11 - 79284955	Oct 12, 2018 (152)
126	A Vietnamese Genetic Variation Database	NC_000009.11 - 79284955	Jul 13, 2019 (153)
127	ALFA	NC_000009.12 - 76670039	Apr 27, 2021 (155)

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)
rs17180599	Oct 08, 2004 (123)
rs58387970	May 24, 2008 (130)
rs74304746	Dec 02, 2009 (131)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss78072482, ss3639413226, ss3639739415	NC_000009.9:76514508:G:A	NC_000009.12:76670038:G:A	(self)
531119, 628412, ss108822779, ss115740966, ss164236713, ss166548128, ss200467791, ss206736404, ss254312277, ss280268193, ss286037377, ss294294246, ss825539533, ss1397557628, ss1596255509, ss1713113539, ss3643743228, ss3847950520	NC_000009.10:78474774:G:A	NC_000009.12:76670038:G:A	(self)
46396282, 25765209, 18326125, 9287157, 11500220, 27348312, 9867413, 11982694, 24392358, 6427149, 51758754, 25765209, 5725224, ss224275835, ss234839646, ss241610232, ss537312120, ss561418428, ss655907278, ss833027716, ss986625345, ss1076345611, ss1334126948, ss1431858904, ss1583122220, ss1622850054, ss1665844087, ss1806009171, ss1929940764, ss1971228848, ss2025685943, ss2153910795, ss2627310306, ss2709774921, ss2879441864, ss3005047546, ss3348701168, ss3630277890, ss3638816641, ss3672587877, ss3736582548, ss3769275294, ss3786434709, ss3791648667, ss3796529979, ss3831689173, ss3839372526, ss3872375378, ss3920170918, ss5193789447, ss5388133157, ss5509730500, ss5647602455, ss5829287523, ss5976782382, ss5980558970	NC_000009.11:79284954:G:A	NC_000009.12:76670038:G:A	(self)
61009516, 3843856, 22456602, 71709914, 661288786, 7858691817, ss2311724552, ss3026624539, ss3649170707, ss3724094753, ss3812444087, ss3844835256, ss3966078601, ss4823911225, ss5281009224, ss5476998236, ss5573483581, ss5737872810, ss5810709570, ss5856793631, ss5916688730	NC_000009.12:76670038:G:A	NC_000009.12:76670038:G:A	(self)
ss736535, ss946233, ss946837, ss1573770, ss4082224, ss24206417, ss43323279, ss66545491, ss67418492, ss67780270, ss70846074, ss71430672, ss75548493, ss79209015, ss83485161, ss97803908, ss104624154, ss122469853, ss134080484, ss154339843, ss157605915, ss159516424, ss172034795, ss173923318	NT_008470.19:8449486:G:A	NC_000009.12:76670038:G:A	(self)
ss12022369	NT_023935.15:8449486:G:A	NC_000009.12:76670038:G:A	(self)
ss15971102, ss22782901	NT_023935.16:8449486:G:A	NC_000009.12:76670038:G:A	(self)
7858691817, ss2311724552	NC_000009.12:76670038:G:C	NC_000009.12:76670038:G:C	(self)

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

No publications for rs565327

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.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs565327