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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs9507413

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr13:24799496 (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 / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.005728 (1653/288564, ALFA)
G=0.004069 (1077/264690, TOPMED)
G=0.004578 (642/140246, GnomAD) (+ 14 more)
G=0.00217 (171/78698, PAGE_STUDY)
G=0.00569 (74/13002, GO-ESP)
G=0.0020 (13/6404, 1000G_30x)
G=0.0020 (10/5008, 1000G)
G=0.0121 (54/4480, Estonian)
G=0.0086 (33/3854, ALSPAC)
G=0.0092 (34/3708, TWINSUK)
G=0.0123 (14/1136, Daghestan)
G=0.006 (6/998, GoNL)
G=0.005 (3/614, HapMap)
G=0.007 (4/600, NorthernSweden)
G=0.006 (3/534, MGP)
G=0.003 (1/304, FINRISK)
G=0.03 (1/40, GENOME_DK)
Clinical Significance
Reported in ClinVar
Gene : Consequence
RNF17 : Missense 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 304952 A=0.994330 G=0.005670
European Sub 258642 A=0.993798 G=0.006202
African Sub 13448 A=0.99866 G=0.00134
African Others Sub 482 A=1.000 G=0.000
African American Sub 12966 A=0.99861 G=0.00139
Asian Sub 6854 A=1.0000 G=0.0000
East Asian Sub 4900 A=1.0000 G=0.0000
Other Asian Sub 1954 A=1.0000 G=0.0000
Latin American 1 Sub 1320 A=0.9955 G=0.0045
Latin American 2 Sub 2544 A=0.9984 G=0.0016
South Asian Sub 366 A=1.000 G=0.000
Other Sub 21778 A=0.99555 G=0.00445


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
Allele Frequency Aggregator Total Global 288564 A=0.994272 G=0.005728
Allele Frequency Aggregator European Sub 248502 A=0.993771 G=0.006229
Allele Frequency Aggregator Other Sub 20340 A=0.99582 G=0.00418
Allele Frequency Aggregator African Sub 8638 A=0.9988 G=0.0012
Allele Frequency Aggregator Asian Sub 6854 A=1.0000 G=0.0000
Allele Frequency Aggregator Latin American 2 Sub 2544 A=0.9984 G=0.0016
Allele Frequency Aggregator Latin American 1 Sub 1320 A=0.9955 G=0.0045
Allele Frequency Aggregator South Asian Sub 366 A=1.000 G=0.000
TopMed Global Study-wide 264690 A=0.995931 G=0.004069
gnomAD - Genomes Global Study-wide 140246 A=0.995422 G=0.004578
gnomAD - Genomes European Sub 75942 A=0.99309 G=0.00691
gnomAD - Genomes African Sub 42060 A=0.99876 G=0.00124
gnomAD - Genomes American Sub 13640 A=0.99663 G=0.00337
gnomAD - Genomes Ashkenazi Jewish Sub 3322 A=0.9982 G=0.0018
gnomAD - Genomes East Asian Sub 3130 A=1.0000 G=0.0000
gnomAD - Genomes Other Sub 2152 A=0.9940 G=0.0060
The PAGE Study Global Study-wide 78698 A=0.99783 G=0.00217
The PAGE Study AfricanAmerican Sub 32516 A=0.99883 G=0.00117
The PAGE Study Mexican Sub 10810 A=0.99806 G=0.00194
The PAGE Study Asian Sub 8318 A=0.9999 G=0.0001
The PAGE Study PuertoRican Sub 7914 A=0.9942 G=0.0058
The PAGE Study NativeHawaiian Sub 4534 A=0.9985 G=0.0015
The PAGE Study Cuban Sub 4230 A=0.9960 G=0.0040
The PAGE Study Dominican Sub 3828 A=0.9948 G=0.0052
The PAGE Study CentralAmerican Sub 2450 A=0.9980 G=0.0020
The PAGE Study SouthAmerican Sub 1982 A=0.9965 G=0.0035
The PAGE Study NativeAmerican Sub 1260 A=0.9944 G=0.0056
The PAGE Study SouthAsian Sub 856 A=0.998 G=0.002
GO Exome Sequencing Project Global Study-wide 13002 A=0.99431 G=0.00569
GO Exome Sequencing Project European American Sub 8596 A=0.9923 G=0.0077
GO Exome Sequencing Project African American Sub 4406 A=0.9982 G=0.0018
1000Genomes_30x Global Study-wide 6404 A=0.9980 G=0.0020
1000Genomes_30x African Sub 1786 A=0.9994 G=0.0006
1000Genomes_30x Europe Sub 1266 A=0.9961 G=0.0039
1000Genomes_30x South Asian Sub 1202 A=0.9967 G=0.0033
1000Genomes_30x East Asian Sub 1170 A=1.0000 G=0.0000
1000Genomes_30x American Sub 980 A=0.997 G=0.003
1000Genomes Global Study-wide 5008 A=0.9980 G=0.0020
1000Genomes African Sub 1322 A=0.9992 G=0.0008
1000Genomes East Asian Sub 1008 A=1.0000 G=0.0000
1000Genomes Europe Sub 1006 A=0.9950 G=0.0050
1000Genomes South Asian Sub 978 A=0.999 G=0.001
1000Genomes American Sub 694 A=0.996 G=0.004
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.9879 G=0.0121
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.9914 G=0.0086
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.9908 G=0.0092
Genome-wide autozygosity in Daghestan Global Study-wide 1136 A=0.9877 G=0.0123
Genome-wide autozygosity in Daghestan Daghestan Sub 628 A=0.978 G=0.022
Genome-wide autozygosity in Daghestan Near_East Sub 144 A=1.000 G=0.000
Genome-wide autozygosity in Daghestan Central Asia Sub 122 A=1.000 G=0.000
Genome-wide autozygosity in Daghestan Europe Sub 108 A=1.000 G=0.000
Genome-wide autozygosity in Daghestan South Asian Sub 98 A=1.00 G=0.00
Genome-wide autozygosity in Daghestan Caucasus Sub 36 A=1.00 G=0.00
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.994 G=0.006
HapMap Global Study-wide 614 A=0.995 G=0.005
HapMap American Sub 324 A=0.994 G=0.006
HapMap Asian Sub 170 A=0.994 G=0.006
HapMap African Sub 120 A=1.000 G=0.000
Northern Sweden ACPOP Study-wide 600 A=0.993 G=0.007
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 A=0.994 G=0.006
FINRISK Finnish from FINRISK project Study-wide 304 A=0.997 G=0.003
The Danish reference pan genome Danish Study-wide 40 A=0.97 G=0.03
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 13 NC_000013.11:g.24799496A>G
GRCh38.p14 chr 13 NC_000013.11:g.24799496A>T
GRCh37.p13 chr 13 NC_000013.10:g.25373634A>G
GRCh37.p13 chr 13 NC_000013.10:g.25373634A>T
Gene: RNF17, ring finger protein 17 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
RNF17 transcript variant 1 NM_031277.3:c.1501A>G S [AGT] > G [GGT] Coding Sequence Variant
RING finger protein 17 isoform 1 NP_112567.2:p.Ser501Gly S (Ser) > G (Gly) Missense Variant
RNF17 transcript variant 1 NM_031277.3:c.1501A>T S [AGT] > C [TGT] Coding Sequence Variant
RING finger protein 17 isoform 1 NP_112567.2:p.Ser501Cys S (Ser) > C (Cys) Missense Variant
RNF17 transcript variant 2 NM_001184993.2:c.1501A>G S [AGT] > G [GGT] Coding Sequence Variant
RING finger protein 17 isoform 2 NP_001171922.1:p.Ser501Gly S (Ser) > G (Gly) Missense Variant
RNF17 transcript variant 2 NM_001184993.2:c.1501A>T S [AGT] > C [TGT] Coding Sequence Variant
RING finger protein 17 isoform 2 NP_001171922.1:p.Ser501Cys S (Ser) > C (Cys) Missense Variant
RNF17 transcript variant X14 XM_011535164.3:c. N/A Genic Upstream Transcript Variant
RNF17 transcript variant X1 XM_011535152.3:c.1582A>G S [AGT] > G [GGT] Coding Sequence Variant
RING finger protein 17 isoform X1 XP_011533454.1:p.Ser528Gly S (Ser) > G (Gly) Missense Variant
RNF17 transcript variant X1 XM_011535152.3:c.1582A>T S [AGT] > C [TGT] Coding Sequence Variant
RING finger protein 17 isoform X1 XP_011533454.1:p.Ser528Cys S (Ser) > C (Cys) Missense Variant
RNF17 transcript variant X2 XM_011535156.3:c.1582A>G S [AGT] > G [GGT] Coding Sequence Variant
RING finger protein 17 isoform X1 XP_011533458.1:p.Ser528Gly S (Ser) > G (Gly) Missense Variant
RNF17 transcript variant X2 XM_011535156.3:c.1582A>T S [AGT] > C [TGT] Coding Sequence Variant
RING finger protein 17 isoform X1 XP_011533458.1:p.Ser528Cys S (Ser) > C (Cys) Missense Variant
RNF17 transcript variant X3 XM_011535155.3:c.1582A>G S [AGT] > G [GGT] Coding Sequence Variant
RING finger protein 17 isoform X1 XP_011533457.1:p.Ser528Gly S (Ser) > G (Gly) Missense Variant
RNF17 transcript variant X3 XM_011535155.3:c.1582A>T S [AGT] > C [TGT] Coding Sequence Variant
RING finger protein 17 isoform X1 XP_011533457.1:p.Ser528Cys S (Ser) > C (Cys) Missense Variant
RNF17 transcript variant X15 XM_047430486.1:c.1582A>G S [AGT] > G [GGT] Coding Sequence Variant
RING finger protein 17 isoform X1 XP_047286442.1:p.Ser528Gly S (Ser) > G (Gly) Missense Variant
RNF17 transcript variant X15 XM_047430486.1:c.1582A>T S [AGT] > C [TGT] Coding Sequence Variant
RING finger protein 17 isoform X1 XP_047286442.1:p.Ser528Cys S (Ser) > C (Cys) Missense Variant
RNF17 transcript variant X4 XM_011535157.3:c.1582A>G S [AGT] > G [GGT] Coding Sequence Variant
RING finger protein 17 isoform X2 XP_011533459.1:p.Ser528Gly S (Ser) > G (Gly) Missense Variant
RNF17 transcript variant X4 XM_011535157.3:c.1582A>T S [AGT] > C [TGT] Coding Sequence Variant
RING finger protein 17 isoform X2 XP_011533459.1:p.Ser528Cys S (Ser) > C (Cys) Missense Variant
RNF17 transcript variant X5 XM_006719846.4:c.1561A>G S [AGT] > G [GGT] Coding Sequence Variant
RING finger protein 17 isoform X3 XP_006719909.1:p.Ser521Gly S (Ser) > G (Gly) Missense Variant
RNF17 transcript variant X5 XM_006719846.4:c.1561A>T S [AGT] > C [TGT] Coding Sequence Variant
RING finger protein 17 isoform X3 XP_006719909.1:p.Ser521Cys S (Ser) > C (Cys) Missense Variant
RNF17 transcript variant X6 XM_006719849.3:c.1501A>G S [AGT] > G [GGT] Coding Sequence Variant
RING finger protein 17 isoform X4 XP_006719912.1:p.Ser501Gly S (Ser) > G (Gly) Missense Variant
RNF17 transcript variant X6 XM_006719849.3:c.1501A>T S [AGT] > C [TGT] Coding Sequence Variant
RING finger protein 17 isoform X4 XP_006719912.1:p.Ser501Cys S (Ser) > C (Cys) Missense Variant
RNF17 transcript variant X7 XM_011535158.3:c.1582A>G S [AGT] > G [GGT] Coding Sequence Variant
RING finger protein 17 isoform X5 XP_011533460.1:p.Ser528Gly S (Ser) > G (Gly) Missense Variant
RNF17 transcript variant X7 XM_011535158.3:c.1582A>T S [AGT] > C [TGT] Coding Sequence Variant
RING finger protein 17 isoform X5 XP_011533460.1:p.Ser528Cys S (Ser) > C (Cys) Missense Variant
RNF17 transcript variant X8 XM_011535159.3:c.1582A>G S [AGT] > G [GGT] Coding Sequence Variant
RING finger protein 17 isoform X6 XP_011533461.1:p.Ser528Gly S (Ser) > G (Gly) Missense Variant
RNF17 transcript variant X8 XM_011535159.3:c.1582A>T S [AGT] > C [TGT] Coding Sequence Variant
RING finger protein 17 isoform X6 XP_011533461.1:p.Ser528Cys S (Ser) > C (Cys) Missense Variant
RNF17 transcript variant X9 XM_011535160.3:c.1582A>G S [AGT] > G [GGT] Coding Sequence Variant
RING finger protein 17 isoform X7 XP_011533462.1:p.Ser528Gly S (Ser) > G (Gly) Missense Variant
RNF17 transcript variant X9 XM_011535160.3:c.1582A>T S [AGT] > C [TGT] Coding Sequence Variant
RING finger protein 17 isoform X7 XP_011533462.1:p.Ser528Cys S (Ser) > C (Cys) Missense Variant
RNF17 transcript variant X10 XM_017020676.2:c.1318A>G S [AGT] > G [GGT] Coding Sequence Variant
RING finger protein 17 isoform X8 XP_016876165.1:p.Ser440Gly S (Ser) > G (Gly) Missense Variant
RNF17 transcript variant X10 XM_017020676.2:c.1318A>T S [AGT] > C [TGT] Coding Sequence Variant
RING finger protein 17 isoform X8 XP_016876165.1:p.Ser440Cys S (Ser) > C (Cys) Missense Variant
RNF17 transcript variant X11 XM_047430488.1:c.1078A>G S [AGT] > G [GGT] Coding Sequence Variant
RING finger protein 17 isoform X9 XP_047286444.1:p.Ser360Gly S (Ser) > G (Gly) Missense Variant
RNF17 transcript variant X11 XM_047430488.1:c.1078A>T S [AGT] > C [TGT] Coding Sequence Variant
RING finger protein 17 isoform X9 XP_047286444.1:p.Ser360Cys S (Ser) > C (Cys) Missense Variant
RNF17 transcript variant X12 XM_011535162.2:c.979A>G S [AGT] > G [GGT] Coding Sequence Variant
RING finger protein 17 isoform X10 XP_011533464.1:p.Ser327Gly S (Ser) > G (Gly) Missense Variant
RNF17 transcript variant X12 XM_011535162.2:c.979A>T S [AGT] > C [TGT] Coding Sequence Variant
RING finger protein 17 isoform X10 XP_011533464.1:p.Ser327Cys S (Ser) > C (Cys) Missense Variant
RNF17 transcript variant X13 XM_011535163.2:c.268A>G S [AGT] > G [GGT] Coding Sequence Variant
RING finger protein 17 isoform X11 XP_011533465.1:p.Ser90Gly S (Ser) > G (Gly) Missense Variant
RNF17 transcript variant X13 XM_011535163.2:c.268A>T S [AGT] > C [TGT] Coding Sequence Variant
RING finger protein 17 isoform X11 XP_011533465.1:p.Ser90Cys S (Ser) > C (Cys) Missense 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.

Allele: G (allele ID: 713887 )
ClinVar Accession Disease Names Clinical Significance
RCV000963978.3 not provided Likely-Benign
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 T
GRCh38.p14 chr 13 NC_000013.11:g.24799496= NC_000013.11:g.24799496A>G NC_000013.11:g.24799496A>T
GRCh37.p13 chr 13 NC_000013.10:g.25373634= NC_000013.10:g.25373634A>G NC_000013.10:g.25373634A>T
RNF17 transcript variant X5 XM_006719846.4:c.1561= XM_006719846.4:c.1561A>G XM_006719846.4:c.1561A>T
RNF17 transcript variant X5 XM_006719846.3:c.1561= XM_006719846.3:c.1561A>G XM_006719846.3:c.1561A>T
RNF17 transcript variant X7 XM_006719846.2:c.1561= XM_006719846.2:c.1561A>G XM_006719846.2:c.1561A>T
RNF17 transcript variant X3 XM_006719846.1:c.1561= XM_006719846.1:c.1561A>G XM_006719846.1:c.1561A>T
RNF17 transcript variant X2 XM_011535156.3:c.1582= XM_011535156.3:c.1582A>G XM_011535156.3:c.1582A>T
RNF17 transcript variant X3 XM_011535156.2:c.1582= XM_011535156.2:c.1582A>G XM_011535156.2:c.1582A>T
RNF17 transcript variant X5 XM_011535156.1:c.1582= XM_011535156.1:c.1582A>G XM_011535156.1:c.1582A>T
RNF17 transcript variant X1 XM_011535152.3:c.1582= XM_011535152.3:c.1582A>G XM_011535152.3:c.1582A>T
RNF17 transcript variant X1 XM_011535152.2:c.1582= XM_011535152.2:c.1582A>G XM_011535152.2:c.1582A>T
RNF17 transcript variant X1 XM_011535152.1:c.1582= XM_011535152.1:c.1582A>G XM_011535152.1:c.1582A>T
RNF17 transcript variant X4 XM_011535157.3:c.1582= XM_011535157.3:c.1582A>G XM_011535157.3:c.1582A>T
RNF17 transcript variant X4 XM_011535157.2:c.1582= XM_011535157.2:c.1582A>G XM_011535157.2:c.1582A>T
RNF17 transcript variant X6 XM_011535157.1:c.1582= XM_011535157.1:c.1582A>G XM_011535157.1:c.1582A>T
RNF17 transcript variant X7 XM_011535158.3:c.1582= XM_011535158.3:c.1582A>G XM_011535158.3:c.1582A>T
RNF17 transcript variant X7 XM_011535158.2:c.1582= XM_011535158.2:c.1582A>G XM_011535158.2:c.1582A>T
RNF17 transcript variant X9 XM_011535158.1:c.1582= XM_011535158.1:c.1582A>G XM_011535158.1:c.1582A>T
RNF17 transcript variant X8 XM_011535159.3:c.1582= XM_011535159.3:c.1582A>G XM_011535159.3:c.1582A>T
RNF17 transcript variant X8 XM_011535159.2:c.1582= XM_011535159.2:c.1582A>G XM_011535159.2:c.1582A>T
RNF17 transcript variant X10 XM_011535159.1:c.1582= XM_011535159.1:c.1582A>G XM_011535159.1:c.1582A>T
RNF17 transcript variant X9 XM_011535160.3:c.1582= XM_011535160.3:c.1582A>G XM_011535160.3:c.1582A>T
RNF17 transcript variant X9 XM_011535160.2:c.1582= XM_011535160.2:c.1582A>G XM_011535160.2:c.1582A>T
RNF17 transcript variant X11 XM_011535160.1:c.1582= XM_011535160.1:c.1582A>G XM_011535160.1:c.1582A>T
RNF17 transcript variant X3 XM_011535155.3:c.1582= XM_011535155.3:c.1582A>G XM_011535155.3:c.1582A>T
RNF17 transcript variant X2 XM_011535155.2:c.1582= XM_011535155.2:c.1582A>G XM_011535155.2:c.1582A>T
RNF17 transcript variant X4 XM_011535155.1:c.1582= XM_011535155.1:c.1582A>G XM_011535155.1:c.1582A>T
RNF17 transcript variant X6 XM_006719849.3:c.1501= XM_006719849.3:c.1501A>G XM_006719849.3:c.1501A>T
RNF17 transcript variant X6 XM_006719849.2:c.1501= XM_006719849.2:c.1501A>G XM_006719849.2:c.1501A>T
RNF17 transcript variant X6 XM_006719849.1:c.1501= XM_006719849.1:c.1501A>G XM_006719849.1:c.1501A>T
RNF17 transcript variant 1 NM_031277.3:c.1501= NM_031277.3:c.1501A>G NM_031277.3:c.1501A>T
RNF17 transcript variant 1 NM_031277.2:c.1501= NM_031277.2:c.1501A>G NM_031277.2:c.1501A>T
RNF17 transcript variant X10 XM_017020676.2:c.1318= XM_017020676.2:c.1318A>G XM_017020676.2:c.1318A>T
RNF17 transcript variant X10 XM_017020676.1:c.1318= XM_017020676.1:c.1318A>G XM_017020676.1:c.1318A>T
RNF17 transcript variant 2 NM_001184993.2:c.1501= NM_001184993.2:c.1501A>G NM_001184993.2:c.1501A>T
RNF17 transcript variant 2 NM_001184993.1:c.1501= NM_001184993.1:c.1501A>G NM_001184993.1:c.1501A>T
RNF17 transcript variant X12 XM_011535162.2:c.979= XM_011535162.2:c.979A>G XM_011535162.2:c.979A>T
RNF17 transcript variant X12 XM_011535162.1:c.979= XM_011535162.1:c.979A>G XM_011535162.1:c.979A>T
RNF17 transcript variant X13 XM_011535163.2:c.268= XM_011535163.2:c.268A>G XM_011535163.2:c.268A>T
RNF17 transcript variant X13 XM_011535163.1:c.268= XM_011535163.1:c.268A>G XM_011535163.1:c.268A>T
RNF17 transcript variant X15 XM_047430486.1:c.1582= XM_047430486.1:c.1582A>G XM_047430486.1:c.1582A>T
RNF17 transcript variant X11 XM_047430488.1:c.1078= XM_047430488.1:c.1078A>G XM_047430488.1:c.1078A>T
RING finger protein 17 isoform X3 XP_006719909.1:p.Ser521= XP_006719909.1:p.Ser521Gly XP_006719909.1:p.Ser521Cys
RING finger protein 17 isoform X1 XP_011533458.1:p.Ser528= XP_011533458.1:p.Ser528Gly XP_011533458.1:p.Ser528Cys
RING finger protein 17 isoform X1 XP_011533454.1:p.Ser528= XP_011533454.1:p.Ser528Gly XP_011533454.1:p.Ser528Cys
RING finger protein 17 isoform X2 XP_011533459.1:p.Ser528= XP_011533459.1:p.Ser528Gly XP_011533459.1:p.Ser528Cys
RING finger protein 17 isoform X5 XP_011533460.1:p.Ser528= XP_011533460.1:p.Ser528Gly XP_011533460.1:p.Ser528Cys
RING finger protein 17 isoform X6 XP_011533461.1:p.Ser528= XP_011533461.1:p.Ser528Gly XP_011533461.1:p.Ser528Cys
RING finger protein 17 isoform X7 XP_011533462.1:p.Ser528= XP_011533462.1:p.Ser528Gly XP_011533462.1:p.Ser528Cys
RING finger protein 17 isoform X1 XP_011533457.1:p.Ser528= XP_011533457.1:p.Ser528Gly XP_011533457.1:p.Ser528Cys
RING finger protein 17 isoform X4 XP_006719912.1:p.Ser501= XP_006719912.1:p.Ser501Gly XP_006719912.1:p.Ser501Cys
RING finger protein 17 isoform 1 NP_112567.2:p.Ser501= NP_112567.2:p.Ser501Gly NP_112567.2:p.Ser501Cys
RING finger protein 17 isoform X8 XP_016876165.1:p.Ser440= XP_016876165.1:p.Ser440Gly XP_016876165.1:p.Ser440Cys
RING finger protein 17 isoform 2 NP_001171922.1:p.Ser501= NP_001171922.1:p.Ser501Gly NP_001171922.1:p.Ser501Cys
RING finger protein 17 isoform X10 XP_011533464.1:p.Ser327= XP_011533464.1:p.Ser327Gly XP_011533464.1:p.Ser327Cys
RING finger protein 17 isoform X11 XP_011533465.1:p.Ser90= XP_011533465.1:p.Ser90Gly XP_011533465.1:p.Ser90Cys
RING finger protein 17 isoform X1 XP_047286442.1:p.Ser528= XP_047286442.1:p.Ser528Gly XP_047286442.1:p.Ser528Cys
RING finger protein 17 isoform X9 XP_047286444.1:p.Ser360= XP_047286444.1:p.Ser360Gly XP_047286444.1:p.Ser360Cys
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#.

93 SubSNP, 21 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 SC_SNP ss13160355 Dec 05, 2003 (119)
2 PERLEGEN ss69128371 May 16, 2007 (127)
3 SI_EXO ss71648786 May 16, 2007 (127)
4 AFFY ss74821577 Aug 16, 2007 (128)
5 ILLUMINA ss74872454 Dec 07, 2007 (129)
6 CANCER-GENOME ss86350364 Mar 23, 2008 (129)
7 SEATTLESEQ ss159727901 Dec 01, 2009 (131)
8 ILLUMINA ss160993620 Dec 01, 2009 (131)
9 ILLUMINA ss174855110 Jul 04, 2010 (132)
10 1000GENOMES ss236177965 Jul 15, 2010 (132)
11 NHLBI-ESP ss342373414 May 09, 2011 (134)
12 ILLUMINA ss481917119 May 04, 2012 (137)
13 ILLUMINA ss481950144 May 04, 2012 (137)
14 ILLUMINA ss482909254 Sep 08, 2015 (146)
15 ILLUMINA ss485752442 May 04, 2012 (137)
16 1000GENOMES ss491057084 May 04, 2012 (137)
17 EXOME_CHIP ss491477222 May 04, 2012 (137)
18 CLINSEQ_SNP ss491677374 May 04, 2012 (137)
19 ILLUMINA ss537605215 Sep 08, 2015 (146)
20 ILLUMINA ss778640813 Aug 21, 2014 (142)
21 ILLUMINA ss780695353 Sep 08, 2015 (146)
22 ILLUMINA ss783322002 Aug 21, 2014 (142)
23 ILLUMINA ss783369323 Sep 08, 2015 (146)
24 ILLUMINA ss784273877 Aug 21, 2014 (142)
25 ILLUMINA ss832583592 Apr 01, 2015 (144)
26 ILLUMINA ss834098516 Aug 21, 2014 (142)
27 EVA-GONL ss990196224 Aug 21, 2014 (142)
28 1000GENOMES ss1347506212 Aug 21, 2014 (142)
29 HAMMER_LAB ss1397652095 Sep 08, 2015 (146)
30 EVA_GENOME_DK ss1576674934 Apr 01, 2015 (144)
31 EVA_FINRISK ss1584086179 Apr 01, 2015 (144)
32 EVA_UK10K_ALSPAC ss1629895678 Apr 01, 2015 (144)
33 EVA_DECODE ss1642301564 Apr 01, 2015 (144)
34 EVA_UK10K_TWINSUK ss1672889711 Apr 01, 2015 (144)
35 EVA_EXAC ss1691229871 Apr 01, 2015 (144)
36 EVA_EXAC ss1691229872 Apr 01, 2015 (144)
37 EVA_MGP ss1711352678 Apr 01, 2015 (144)
38 EVA_SVP ss1713375916 Apr 01, 2015 (144)
39 ILLUMINA ss1752097926 Sep 08, 2015 (146)
40 ILLUMINA ss1752097927 Sep 08, 2015 (146)
41 ILLUMINA ss1917881832 Feb 12, 2016 (147)
42 ILLUMINA ss1946356522 Feb 12, 2016 (147)
43 ILLUMINA ss1959487378 Feb 12, 2016 (147)
44 HUMAN_LONGEVITY ss2194877545 Dec 20, 2016 (150)
45 ILLUMINA ss2633039802 Nov 08, 2017 (151)
46 GNOMAD ss2740320926 Nov 08, 2017 (151)
47 GNOMAD ss2749019786 Nov 08, 2017 (151)
48 GNOMAD ss2917630615 Nov 08, 2017 (151)
49 AFFY ss2984999092 Nov 08, 2017 (151)
50 SWEGEN ss3010726365 Nov 08, 2017 (151)
51 ILLUMINA ss3021491526 Nov 08, 2017 (151)
52 ILLUMINA ss3627022577 Oct 12, 2018 (152)
53 ILLUMINA ss3627022578 Oct 12, 2018 (152)
54 ILLUMINA ss3631044268 Oct 12, 2018 (152)
55 ILLUMINA ss3633042979 Oct 12, 2018 (152)
56 ILLUMINA ss3633745044 Oct 12, 2018 (152)
57 ILLUMINA ss3634535876 Oct 12, 2018 (152)
58 ILLUMINA ss3634535877 Oct 12, 2018 (152)
59 ILLUMINA ss3635435294 Oct 12, 2018 (152)
60 ILLUMINA ss3636222323 Oct 12, 2018 (152)
61 ILLUMINA ss3637186342 Oct 12, 2018 (152)
62 ILLUMINA ss3638000431 Oct 12, 2018 (152)
63 ILLUMINA ss3640243207 Oct 12, 2018 (152)
64 ILLUMINA ss3640243208 Oct 12, 2018 (152)
65 ILLUMINA ss3642991119 Oct 12, 2018 (152)
66 ILLUMINA ss3644609543 Oct 12, 2018 (152)
67 ILLUMINA ss3651876473 Oct 12, 2018 (152)
68 ILLUMINA ss3653769450 Oct 12, 2018 (152)
69 EGCUT_WGS ss3677989061 Jul 13, 2019 (153)
70 EVA_DECODE ss3694931975 Jul 13, 2019 (153)
71 ILLUMINA ss3725378948 Jul 13, 2019 (153)
72 ACPOP ss3739585305 Jul 13, 2019 (153)
73 ILLUMINA ss3744404252 Jul 13, 2019 (153)
74 ILLUMINA ss3744836619 Jul 13, 2019 (153)
75 ILLUMINA ss3744836620 Jul 13, 2019 (153)
76 PAGE_CC ss3771734597 Jul 13, 2019 (153)
77 ILLUMINA ss3772335743 Jul 13, 2019 (153)
78 ILLUMINA ss3772335744 Jul 13, 2019 (153)
79 EVA ss3824797201 Apr 27, 2020 (154)
80 EVA ss3825834140 Apr 27, 2020 (154)
81 EVA ss3986596900 Apr 26, 2021 (155)
82 TOPMED ss4940041673 Apr 26, 2021 (155)
83 EVA ss5236911808 Apr 26, 2021 (155)
84 1000G_HIGH_COVERAGE ss5293107060 Oct 16, 2022 (156)
85 EVA ss5409625846 Oct 16, 2022 (156)
86 HUGCELL_USP ss5487532683 Oct 16, 2022 (156)
87 1000G_HIGH_COVERAGE ss5591746267 Oct 16, 2022 (156)
88 SANFORD_IMAGENETICS ss5654407497 Oct 16, 2022 (156)
89 EVA ss5839226113 Oct 16, 2022 (156)
90 EVA ss5847692289 Oct 16, 2022 (156)
91 EVA ss5924381677 Oct 16, 2022 (156)
92 EVA ss5945812345 Oct 16, 2022 (156)
93 EVA ss5979412330 Oct 16, 2022 (156)
94 1000Genomes NC_000013.10 - 25373634 Oct 12, 2018 (152)
95 1000Genomes_30x NC_000013.11 - 24799496 Oct 16, 2022 (156)
96 The Avon Longitudinal Study of Parents and Children NC_000013.10 - 25373634 Oct 12, 2018 (152)
97 Genome-wide autozygosity in Daghestan NC_000013.9 - 24271634 Apr 27, 2020 (154)
98 Genetic variation in the Estonian population NC_000013.10 - 25373634 Oct 12, 2018 (152)
99 ExAC

Submission ignored due to conflicting rows:
Row 1553708 (NC_000013.10:25373633:A:A 120725/121256, NC_000013.10:25373633:A:G 531/121256)
Row 1553709 (NC_000013.10:25373633:A:A 121255/121256, NC_000013.10:25373633:A:T 1/121256)

- Oct 12, 2018 (152)
100 ExAC

Submission ignored due to conflicting rows:
Row 1553708 (NC_000013.10:25373633:A:A 120725/121256, NC_000013.10:25373633:A:G 531/121256)
Row 1553709 (NC_000013.10:25373633:A:A 121255/121256, NC_000013.10:25373633:A:T 1/121256)

- Oct 12, 2018 (152)
101 FINRISK NC_000013.10 - 25373634 Apr 27, 2020 (154)
102 The Danish reference pan genome NC_000013.10 - 25373634 Apr 27, 2020 (154)
103 gnomAD - Genomes NC_000013.11 - 24799496 Apr 26, 2021 (155)
104 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 9562548 (NC_000013.10:25373633:A:A 249750/250766, NC_000013.10:25373633:A:G 1016/250766)
Row 9562549 (NC_000013.10:25373633:A:A 250765/250766, NC_000013.10:25373633:A:T 1/250766)

- Jul 13, 2019 (153)
105 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 9562548 (NC_000013.10:25373633:A:A 249750/250766, NC_000013.10:25373633:A:G 1016/250766)
Row 9562549 (NC_000013.10:25373633:A:A 250765/250766, NC_000013.10:25373633:A:T 1/250766)

- Jul 13, 2019 (153)
106 GO Exome Sequencing Project NC_000013.10 - 25373634 Oct 12, 2018 (152)
107 Genome of the Netherlands Release 5 NC_000013.10 - 25373634 Apr 27, 2020 (154)
108 HapMap NC_000013.11 - 24799496 Apr 27, 2020 (154)
109 Medical Genome Project healthy controls from Spanish population NC_000013.10 - 25373634 Apr 27, 2020 (154)
110 Northern Sweden NC_000013.10 - 25373634 Jul 13, 2019 (153)
111 The PAGE Study NC_000013.11 - 24799496 Jul 13, 2019 (153)
112 TopMed NC_000013.11 - 24799496 Apr 26, 2021 (155)
113 UK 10K study - Twins NC_000013.10 - 25373634 Oct 12, 2018 (152)
114 ALFA NC_000013.11 - 24799496 Apr 26, 2021 (155)
115 ClinVar RCV000963978.3 Oct 16, 2022 (156)
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)
rs52805585 Sep 21, 2007 (128)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
122786, ss160993620, ss481917119, ss491677374, ss1397652095, ss1642301564, ss1713375916, ss3642991119 NC_000013.9:24271633:A:G NC_000013.11:24799495:A:G (self)
60350003, 33515755, 23727309, 82640, 3221518, 1254594, 14953654, 468438, 12870170, 33515755, ss236177965, ss342373414, ss481950144, ss482909254, ss485752442, ss491057084, ss491477222, ss537605215, ss778640813, ss780695353, ss783322002, ss783369323, ss784273877, ss832583592, ss834098516, ss990196224, ss1347506212, ss1576674934, ss1584086179, ss1629895678, ss1672889711, ss1691229871, ss1711352678, ss1752097926, ss1752097927, ss1917881832, ss1946356522, ss1959487378, ss2633039802, ss2740320926, ss2749019786, ss2917630615, ss2984999092, ss3010726365, ss3021491526, ss3627022577, ss3627022578, ss3631044268, ss3633042979, ss3633745044, ss3634535876, ss3634535877, ss3635435294, ss3636222323, ss3637186342, ss3638000431, ss3640243207, ss3640243208, ss3644609543, ss3651876473, ss3653769450, ss3677989061, ss3739585305, ss3744404252, ss3744836619, ss3744836620, ss3772335743, ss3772335744, ss3824797201, ss3825834140, ss3986596900, ss5409625846, ss5654407497, ss5839226113, ss5847692289, ss5945812345, ss5979412330 NC_000013.10:25373633:A:G NC_000013.11:24799495:A:G (self)
RCV000963978.3, 79272202, 425588897, 948718, 956066, 155587331, 11095269769, ss2194877545, ss3694931975, ss3725378948, ss3771734597, ss4940041673, ss5236911808, ss5293107060, ss5487532683, ss5591746267, ss5924381677 NC_000013.11:24799495:A:G NC_000013.11:24799495:A:G (self)
ss13160355 NT_009799.12:6353633:A:G NC_000013.11:24799495:A:G (self)
ss69128371, ss71648786, ss74821577, ss74872454, ss86350364, ss159727901, ss174855110 NT_024524.14:6353633:A:G NC_000013.11:24799495:A:G (self)
ss1691229872, ss2740320926 NC_000013.10:25373633:A:T NC_000013.11:24799495:A:T (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 rs9507413

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