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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.

rs137853054

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr6:161973317 (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
A=0.000256 (51/199274, ALFA)
A=0.000164 (23/140220, GnomAD)
A=0.00037 (29/78694, PAGE_STUDY) (+ 5 more)
A=0.0006 (4/6404, 1000G_30x)
A=0.0002 (1/5008, 1000G)
A=0.0005 (2/3854, ALSPAC)
A=0.0003 (1/3708, TWINSUK)
A=0.005 (1/216, Qatari)
Clinical Significance
Reported in ClinVar
Gene : Consequence
PRKN : Missense Variant
Publications
4 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 199396 G=0.999744 A=0.000256, T=0.000000
European Sub 170046 G=0.999753 A=0.000247, T=0.000000
African Sub 4968 G=1.0000 A=0.0000, T=0.0000
African Others Sub 176 G=1.000 A=0.000, T=0.000
African American Sub 4792 G=1.0000 A=0.0000, T=0.0000
Asian Sub 6346 G=1.0000 A=0.0000, T=0.0000
East Asian Sub 4500 G=1.0000 A=0.0000, T=0.0000
Other Asian Sub 1846 G=1.0000 A=0.0000, T=0.0000
Latin American 1 Sub 794 G=1.000 A=0.000, T=0.000
Latin American 2 Sub 968 G=1.000 A=0.000, T=0.000
South Asian Sub 280 G=0.996 A=0.004, T=0.000
Other Sub 15994 G=0.99950 A=0.00050, T=0.00000


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 199274 G=0.999744 A=0.000256, T=0.000000
Allele Frequency Aggregator European Sub 169942 G=0.999753 A=0.000247, T=0.000000
Allele Frequency Aggregator Other Sub 15990 G=0.99950 A=0.00050, T=0.00000
Allele Frequency Aggregator Asian Sub 6346 G=1.0000 A=0.0000, T=0.0000
Allele Frequency Aggregator African Sub 4954 G=1.0000 A=0.0000, T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 968 G=1.000 A=0.000, T=0.000
Allele Frequency Aggregator Latin American 1 Sub 794 G=1.000 A=0.000, T=0.000
Allele Frequency Aggregator South Asian Sub 280 G=0.996 A=0.004, T=0.000
gnomAD - Genomes Global Study-wide 140220 G=0.999836 A=0.000164
gnomAD - Genomes European Sub 75940 G=0.99989 A=0.00011
gnomAD - Genomes African Sub 42022 G=0.99995 A=0.00005
gnomAD - Genomes American Sub 13654 G=0.99927 A=0.00073
gnomAD - Genomes Ashkenazi Jewish Sub 3322 G=1.0000 A=0.0000
gnomAD - Genomes East Asian Sub 3132 G=1.0000 A=0.0000
gnomAD - Genomes Other Sub 2150 G=0.9986 A=0.0014
The PAGE Study Global Study-wide 78694 G=0.99963 A=0.00037
The PAGE Study AfricanAmerican Sub 32510 G=0.99991 A=0.00009
The PAGE Study Mexican Sub 10810 G=0.99944 A=0.00056
The PAGE Study Asian Sub 8318 G=1.0000 A=0.0000
The PAGE Study PuertoRican Sub 7916 G=0.9987 A=0.0013
The PAGE Study NativeHawaiian Sub 4534 G=1.0000 A=0.0000
The PAGE Study Cuban Sub 4230 G=0.9995 A=0.0005
The PAGE Study Dominican Sub 3828 G=0.9990 A=0.0010
The PAGE Study CentralAmerican Sub 2450 G=0.9988 A=0.0012
The PAGE Study SouthAmerican Sub 1982 G=1.0000 A=0.0000
The PAGE Study NativeAmerican Sub 1260 G=1.0000 A=0.0000
The PAGE Study SouthAsian Sub 856 G=0.999 A=0.001
1000Genomes_30x Global Study-wide 6404 G=0.9994 A=0.0006
1000Genomes_30x African Sub 1786 G=1.0000 A=0.0000
1000Genomes_30x Europe Sub 1266 G=1.0000 A=0.0000
1000Genomes_30x South Asian Sub 1202 G=0.9967 A=0.0033
1000Genomes_30x East Asian Sub 1170 G=1.0000 A=0.0000
1000Genomes_30x American Sub 980 G=1.000 A=0.000
1000Genomes Global Study-wide 5008 G=0.9998 A=0.0002
1000Genomes African Sub 1322 G=1.0000 A=0.0000
1000Genomes East Asian Sub 1008 G=1.0000 A=0.0000
1000Genomes Europe Sub 1006 G=1.0000 A=0.0000
1000Genomes South Asian Sub 978 G=0.999 A=0.001
1000Genomes American Sub 694 G=1.000 A=0.000
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.9995 A=0.0005
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.9997 A=0.0003
Qatari Global Study-wide 216 G=0.995 A=0.005
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 6 NC_000006.12:g.161973317G>A
GRCh38.p14 chr 6 NC_000006.12:g.161973317G>C
GRCh38.p14 chr 6 NC_000006.12:g.161973317G>T
GRCh37.p13 chr 6 NC_000006.11:g.162394349G>A
GRCh37.p13 chr 6 NC_000006.11:g.162394349G>C
GRCh37.p13 chr 6 NC_000006.11:g.162394349G>T
PRKN RefSeqGene NG_008289.2:g.759486C>T
PRKN RefSeqGene NG_008289.2:g.759486C>G
PRKN RefSeqGene NG_008289.2:g.759486C>A
Gene: PRKN, parkin RBR E3 ubiquitin protein ligase (minus strand)
Molecule type Change Amino acid[Codon] SO Term
PRKN transcript variant 1 NM_004562.3:c.719C>T T [ACG] > M [ATG] Coding Sequence Variant
E3 ubiquitin-protein ligase parkin isoform 1 NP_004553.2:p.Thr240Met T (Thr) > M (Met) Missense Variant
PRKN transcript variant 1 NM_004562.3:c.719C>G T [ACG] > R [AGG] Coding Sequence Variant
E3 ubiquitin-protein ligase parkin isoform 1 NP_004553.2:p.Thr240Arg T (Thr) > R (Arg) Missense Variant
PRKN transcript variant 1 NM_004562.3:c.719C>A T [ACG] > K [AAG] Coding Sequence Variant
E3 ubiquitin-protein ligase parkin isoform 1 NP_004553.2:p.Thr240Lys T (Thr) > K (Lys) Missense Variant
PRKN transcript variant 2 NM_013987.3:c.635C>T T [ACG] > M [ATG] Coding Sequence Variant
E3 ubiquitin-protein ligase parkin isoform 2 NP_054642.2:p.Thr212Met T (Thr) > M (Met) Missense Variant
PRKN transcript variant 2 NM_013987.3:c.635C>G T [ACG] > R [AGG] Coding Sequence Variant
E3 ubiquitin-protein ligase parkin isoform 2 NP_054642.2:p.Thr212Arg T (Thr) > R (Arg) Missense Variant
PRKN transcript variant 2 NM_013987.3:c.635C>A T [ACG] > K [AAG] Coding Sequence Variant
E3 ubiquitin-protein ligase parkin isoform 2 NP_054642.2:p.Thr212Lys T (Thr) > K (Lys) Missense Variant
PRKN transcript variant 3 NM_013988.3:c.272C>T T [ACG] > M [ATG] Coding Sequence Variant
E3 ubiquitin-protein ligase parkin isoform 3 NP_054643.2:p.Thr91Met T (Thr) > M (Met) Missense Variant
PRKN transcript variant 3 NM_013988.3:c.272C>G T [ACG] > R [AGG] Coding Sequence Variant
E3 ubiquitin-protein ligase parkin isoform 3 NP_054643.2:p.Thr91Arg T (Thr) > R (Arg) Missense Variant
PRKN transcript variant 3 NM_013988.3:c.272C>A T [ACG] > K [AAG] Coding Sequence Variant
E3 ubiquitin-protein ligase parkin isoform 3 NP_054643.2:p.Thr91Lys T (Thr) > K (Lys) Missense Variant
PRKN transcript variant X1 XM_017010908.2:c.833C>T T [ACG] > M [ATG] Coding Sequence Variant
E3 ubiquitin-protein ligase parkin isoform X1 XP_016866397.1:p.Thr278Met T (Thr) > M (Met) Missense Variant
PRKN transcript variant X1 XM_017010908.2:c.833C>G T [ACG] > R [AGG] Coding Sequence Variant
E3 ubiquitin-protein ligase parkin isoform X1 XP_016866397.1:p.Thr278Arg T (Thr) > R (Arg) Missense Variant
PRKN transcript variant X1 XM_017010908.2:c.833C>A T [ACG] > K [AAG] Coding Sequence Variant
E3 ubiquitin-protein ligase parkin isoform X1 XP_016866397.1:p.Thr278Lys T (Thr) > K (Lys) Missense Variant
PRKN transcript variant X2 XM_011535863.2:c.716C>T T [ACG] > M [ATG] Coding Sequence Variant
E3 ubiquitin-protein ligase parkin isoform X2 XP_011534165.1:p.Thr239Met T (Thr) > M (Met) Missense Variant
PRKN transcript variant X2 XM_011535863.2:c.716C>G T [ACG] > R [AGG] Coding Sequence Variant
E3 ubiquitin-protein ligase parkin isoform X2 XP_011534165.1:p.Thr239Arg T (Thr) > R (Arg) Missense Variant
PRKN transcript variant X2 XM_011535863.2:c.716C>A T [ACG] > K [AAG] Coding Sequence Variant
E3 ubiquitin-protein ligase parkin isoform X2 XP_011534165.1:p.Thr239Lys T (Thr) > K (Lys) Missense Variant
PRKN transcript variant X3 XM_024446449.2:c.482C>T T [ACG] > M [ATG] Coding Sequence Variant
E3 ubiquitin-protein ligase parkin isoform X3 XP_024302217.1:p.Thr161Met T (Thr) > M (Met) Missense Variant
PRKN transcript variant X3 XM_024446449.2:c.482C>G T [ACG] > R [AGG] Coding Sequence Variant
E3 ubiquitin-protein ligase parkin isoform X3 XP_024302217.1:p.Thr161Arg T (Thr) > R (Arg) Missense Variant
PRKN transcript variant X3 XM_024446449.2:c.482C>A T [ACG] > K [AAG] Coding Sequence Variant
E3 ubiquitin-protein ligase parkin isoform X3 XP_024302217.1:p.Thr161Lys T (Thr) > K (Lys) 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: A (allele ID: 22093 )
ClinVar Accession Disease Names Clinical Significance
RCV000007470.15 Autosomal recessive juvenile Parkinson disease 2 Pathogenic
RCV000419390.8 not provided Conflicting-Interpretations-Of-Pathogenicity
RCV000625845.4 Neoplasm of ovary Likely-Pathogenic
RCV001449638.1 Young-onset Parkinson disease Pathogenic
Allele: C (allele ID: 22075 )
ClinVar Accession Disease Names Clinical Significance
RCV000007452.6 Autosomal recessive juvenile Parkinson disease 2 Pathogenic
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 6 NC_000006.12:g.161973317= NC_000006.12:g.161973317G>A NC_000006.12:g.161973317G>C NC_000006.12:g.161973317G>T
GRCh37.p13 chr 6 NC_000006.11:g.162394349= NC_000006.11:g.162394349G>A NC_000006.11:g.162394349G>C NC_000006.11:g.162394349G>T
PRKN RefSeqGene NG_008289.2:g.759486= NG_008289.2:g.759486C>T NG_008289.2:g.759486C>G NG_008289.2:g.759486C>A
PRKN transcript variant 1 NM_004562.3:c.719= NM_004562.3:c.719C>T NM_004562.3:c.719C>G NM_004562.3:c.719C>A
PRKN transcript variant 1 NM_004562.2:c.719= NM_004562.2:c.719C>T NM_004562.2:c.719C>G NM_004562.2:c.719C>A
PRKN transcript variant 2 NM_013987.3:c.635= NM_013987.3:c.635C>T NM_013987.3:c.635C>G NM_013987.3:c.635C>A
PRKN transcript variant 2 NM_013987.2:c.635= NM_013987.2:c.635C>T NM_013987.2:c.635C>G NM_013987.2:c.635C>A
PRKN transcript variant 3 NM_013988.3:c.272= NM_013988.3:c.272C>T NM_013988.3:c.272C>G NM_013988.3:c.272C>A
PRKN transcript variant 3 NM_013988.2:c.272= NM_013988.2:c.272C>T NM_013988.2:c.272C>G NM_013988.2:c.272C>A
PRKN transcript variant X1 XM_017010908.2:c.833= XM_017010908.2:c.833C>T XM_017010908.2:c.833C>G XM_017010908.2:c.833C>A
PRKN transcript variant X1 XM_017010908.1:c.833= XM_017010908.1:c.833C>T XM_017010908.1:c.833C>G XM_017010908.1:c.833C>A
PRKN transcript variant X2 XM_011535863.2:c.716= XM_011535863.2:c.716C>T XM_011535863.2:c.716C>G XM_011535863.2:c.716C>A
PRKN transcript variant X2 XM_011535863.1:c.716= XM_011535863.1:c.716C>T XM_011535863.1:c.716C>G XM_011535863.1:c.716C>A
PRKN transcript variant X3 XM_024446449.2:c.482= XM_024446449.2:c.482C>T XM_024446449.2:c.482C>G XM_024446449.2:c.482C>A
PRKN transcript variant X3 XM_024446449.1:c.482= XM_024446449.1:c.482C>T XM_024446449.1:c.482C>G XM_024446449.1:c.482C>A
E3 ubiquitin-protein ligase parkin isoform 1 NP_004553.2:p.Thr240= NP_004553.2:p.Thr240Met NP_004553.2:p.Thr240Arg NP_004553.2:p.Thr240Lys
E3 ubiquitin-protein ligase parkin isoform 2 NP_054642.2:p.Thr212= NP_054642.2:p.Thr212Met NP_054642.2:p.Thr212Arg NP_054642.2:p.Thr212Lys
E3 ubiquitin-protein ligase parkin isoform 3 NP_054643.2:p.Thr91= NP_054643.2:p.Thr91Met NP_054643.2:p.Thr91Arg NP_054643.2:p.Thr91Lys
E3 ubiquitin-protein ligase parkin isoform X1 XP_016866397.1:p.Thr278= XP_016866397.1:p.Thr278Met XP_016866397.1:p.Thr278Arg XP_016866397.1:p.Thr278Lys
E3 ubiquitin-protein ligase parkin isoform X2 XP_011534165.1:p.Thr239= XP_011534165.1:p.Thr239Met XP_011534165.1:p.Thr239Arg XP_011534165.1:p.Thr239Lys
E3 ubiquitin-protein ligase parkin isoform X3 XP_024302217.1:p.Thr161= XP_024302217.1:p.Thr161Met XP_024302217.1:p.Thr161Arg XP_024302217.1:p.Thr161Lys
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#.

44 SubSNP, 14 Frequency, 5 ClinVar submissions
No Submitter Submission ID Date (Build)
1 OMIM-CURATED-RECORDS ss290490226 Jan 20, 2011 (133)
2 OMIM-CURATED-RECORDS ss290490235 Jan 20, 2011 (133)
3 EXOME_CHIP ss491394645 May 04, 2012 (137)
4 NHLBI-ESP ss712749951 Apr 25, 2013 (138)
5 ILLUMINA ss780856278 Sep 08, 2015 (146)
6 ILLUMINA ss783540357 Sep 08, 2015 (146)
7 1000GENOMES ss1323197491 Aug 21, 2014 (142)
8 EVA_UK10K_ALSPAC ss1617196676 Apr 01, 2015 (144)
9 EVA_UK10K_TWINSUK ss1660190709 Apr 01, 2015 (144)
10 EVA_EXAC ss1688581065 Apr 01, 2015 (144)
11 EVA_EXAC ss1688581066 Apr 01, 2015 (144)
12 ILLUMINA ss1752613884 Sep 08, 2015 (146)
13 ILLUMINA ss1917813304 Feb 12, 2016 (147)
14 WEILL_CORNELL_DGM ss1926985444 Feb 12, 2016 (147)
15 ILLUMINA ss1946197662 Feb 12, 2016 (147)
16 ILLUMINA ss1958970414 Feb 12, 2016 (147)
17 HUMAN_LONGEVITY ss2290301792 Dec 20, 2016 (150)
18 GNOMAD ss2747742599 Nov 08, 2017 (151)
19 GNOMAD ss2847725357 Nov 08, 2017 (151)
20 AFFY ss2985394665 Nov 08, 2017 (151)
21 AFFY ss2986023528 Nov 08, 2017 (151)
22 ILLUMINA ss3022688994 Nov 08, 2017 (151)
23 ILLUMINA ss3629709602 Oct 12, 2018 (152)
24 ILLUMINA ss3635099666 Oct 12, 2018 (152)
25 ILLUMINA ss3640806967 Oct 12, 2018 (152)
26 ILLUMINA ss3644930788 Oct 12, 2018 (152)
27 ILLUMINA ss3653214811 Oct 12, 2018 (152)
28 ILLUMINA ss3654154678 Oct 12, 2018 (152)
29 ILLUMINA ss3726404621 Jul 13, 2019 (153)
30 ILLUMINA ss3744563791 Jul 13, 2019 (153)
31 ILLUMINA ss3745399574 Jul 13, 2019 (153)
32 PAGE_CC ss3771338931 Jul 13, 2019 (153)
33 ILLUMINA ss3772892875 Jul 13, 2019 (153)
34 EVA ss3824242868 Apr 26, 2020 (154)
35 TOPMED ss4729693474 Apr 26, 2021 (155)
36 TOPMED ss4729693475 Apr 26, 2021 (155)
37 1000G_HIGH_COVERAGE ss5271163077 Oct 14, 2022 (156)
38 EVA ss5370488723 Oct 14, 2022 (156)
39 1000G_HIGH_COVERAGE ss5558505378 Oct 14, 2022 (156)
40 EVA ss5848122012 Oct 14, 2022 (156)
41 EVA ss5886891558 Oct 14, 2022 (156)
42 EVA ss5935845653 Oct 14, 2022 (156)
43 EVA ss5971039694 Oct 14, 2022 (156)
44 EVA ss5971039695 Oct 14, 2022 (156)
45 1000Genomes NC_000006.11 - 162394349 Oct 12, 2018 (152)
46 1000Genomes_30x NC_000006.12 - 161973317 Oct 14, 2022 (156)
47 The Avon Longitudinal Study of Parents and Children NC_000006.11 - 162394349 Oct 12, 2018 (152)
48 ExAC

Submission ignored due to conflicting rows:
Row 8634795 (NC_000006.11:162394348:G:G 121329/121364, NC_000006.11:162394348:G:A 35/121364)
Row 8634796 (NC_000006.11:162394348:G:G 121362/121364, NC_000006.11:162394348:G:T 2/121364)

- Oct 12, 2018 (152)
49 ExAC

Submission ignored due to conflicting rows:
Row 8634795 (NC_000006.11:162394348:G:G 121329/121364, NC_000006.11:162394348:G:A 35/121364)
Row 8634796 (NC_000006.11:162394348:G:G 121362/121364, NC_000006.11:162394348:G:T 2/121364)

- Oct 12, 2018 (152)
50 gnomAD - Genomes NC_000006.12 - 161973317 Apr 26, 2021 (155)
51 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 5347813 (NC_000006.11:162394348:G:G 251354/251448, NC_000006.11:162394348:G:A 94/251448)
Row 5347815 (NC_000006.11:162394348:G:G 251446/251448, NC_000006.11:162394348:G:T 2/251448)

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

Submission ignored due to conflicting rows:
Row 5347813 (NC_000006.11:162394348:G:G 251354/251448, NC_000006.11:162394348:G:A 94/251448)
Row 5347815 (NC_000006.11:162394348:G:G 251446/251448, NC_000006.11:162394348:G:T 2/251448)

- Jul 13, 2019 (153)
53 The PAGE Study NC_000006.12 - 161973317 Jul 13, 2019 (153)
54 Qatari NC_000006.11 - 162394349 Apr 26, 2020 (154)
55 TopMed

Submission ignored due to conflicting rows:
Row 567071032 (NC_000006.12:161973316:G:A 97/264690)
Row 567071033 (NC_000006.12:161973316:G:T 1/264690)

- Apr 26, 2021 (155)
56 TopMed

Submission ignored due to conflicting rows:
Row 567071032 (NC_000006.12:161973316:G:A 97/264690)
Row 567071033 (NC_000006.12:161973316:G:T 1/264690)

- Apr 26, 2021 (155)
57 UK 10K study - Twins NC_000006.11 - 162394349 Oct 12, 2018 (152)
58 ALFA NC_000006.12 - 161973317 Apr 26, 2021 (155)
59 ClinVar RCV000007452.6 Oct 12, 2018 (152)
60 ClinVar RCV000007470.15 Oct 14, 2022 (156)
61 ClinVar RCV000419390.8 Oct 14, 2022 (156)
62 ClinVar RCV000625845.4 Oct 14, 2022 (156)
63 ClinVar RCV001449638.1 Oct 14, 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
35101572, 19577582, 9027374, 19577582, ss491394645, ss712749951, ss780856278, ss783540357, ss1323197491, ss1617196676, ss1660190709, ss1688581065, ss1752613884, ss1917813304, ss1926985444, ss1946197662, ss1958970414, ss2747742599, ss2847725357, ss2985394665, ss2986023528, ss3022688994, ss3629709602, ss3635099666, ss3640806967, ss3644930788, ss3653214811, ss3654154678, ss3744563791, ss3745399574, ss3772892875, ss3824242868, ss5370488723, ss5848122012, ss5935845653, ss5971039694, ss5971039695 NC_000006.11:162394348:G:A NC_000006.12:161973316:G:A (self)
RCV000007470.15, RCV000419390.8, RCV000625845.4, RCV001449638.1, 46031313, 247756945, 560400, 1492601191, ss290490235, ss2290301792, ss3726404621, ss3771338931, ss4729693474, ss5271163077, ss5558505378, ss5886891558 NC_000006.12:161973316:G:A NC_000006.12:161973316:G:A (self)
RCV000007452.6, ss290490226 NC_000006.12:161973316:G:C NC_000006.12:161973316:G:C (self)
ss1688581066 NC_000006.11:162394348:G:T NC_000006.12:161973316:G:T (self)
1492601191, ss4729693475 NC_000006.12:161973316:G:T NC_000006.12:161973316:G:T (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

4 citations for rs137853054
PMID Title Author Year Journal
9731209 Point mutations (Thr240Arg and Gln311Stop) [correction of Thr240Arg and Ala311Stop] in the Parkin gene. Hattori N et al. 1998 Biochemical and biophysical research communications
16049031 Familial-associated mutations differentially disrupt the solubility, localization, binding and ubiquitination properties of parkin. Sriram SR et al. 2005 Human molecular genetics
16476817 Heterogeneous phenotype in a family with compound heterozygous parkin gene mutations. Deng H et al. 2006 Archives of neurology
25741868 Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S et al. 2015 Genetics in medicine
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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
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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