Name: rs147500308
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.

rs147500308

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr12:132642903 (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: C=0.000163 (18/110194, ALFA)
C=0.00079 (62/78702, PAGE_STUDY)
C=0.00023 (3/13006, GO-ESP) (+ 4 more)
C=0.0006 (4/6404, 1000G_30x)
C=0.0006 (3/5008, 1000G)
C=0.0003 (1/3854, ALSPAC)
C=0.0003 (1/3708, TWINSUK)

Clinical Significance: Reported in ClinVar
Gene : Consequence: POLE : 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	110194	G=0.999837	C=0.000163, T=0.000000
European	Sub	92478	G=0.99987	C=0.00013, T=0.00000
African	Sub	4358	G=1.0000	C=0.0000, T=0.0000
African Others	Sub	174	G=1.000	C=0.000, T=0.000
African American	Sub	4184	G=1.0000	C=0.0000, T=0.0000
Asian	Sub	3320	G=1.0000	C=0.0000, T=0.0000
East Asian	Sub	2666	G=1.0000	C=0.0000, T=0.0000
Other Asian	Sub	654	G=1.000	C=0.000, T=0.000
Latin American 1	Sub	790	G=0.999	C=0.001, T=0.000
Latin American 2	Sub	938	G=0.999	C=0.001, T=0.000
South Asian	Sub	274	G=1.000	C=0.000, T=0.000
Other	Sub	8036	G=0.9995	C=0.0005, T=0.0000

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	110194	G=0.999837	C=0.000163, T=0.000000
Allele Frequency Aggregator	European	Sub	92478	G=0.99987	C=0.00013, T=0.00000
Allele Frequency Aggregator	Other	Sub	8036	G=0.9995	C=0.0005, T=0.0000
Allele Frequency Aggregator	African	Sub	4358	G=1.0000	C=0.0000, T=0.0000
Allele Frequency Aggregator	Asian	Sub	3320	G=1.0000	C=0.0000, T=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	938	G=0.999	C=0.001, T=0.000
Allele Frequency Aggregator	Latin American 1	Sub	790	G=0.999	C=0.001, T=0.000
Allele Frequency Aggregator	South Asian	Sub	274	G=1.000	C=0.000, T=0.000
The PAGE Study	Global	Study-wide	78702	G=0.99921	C=0.00079
The PAGE Study	AfricanAmerican	Sub	32516	G=0.99982	C=0.00018
The PAGE Study	Mexican	Sub	10810	G=0.99796	C=0.00204
The PAGE Study	Asian	Sub	8318	G=1.0000	C=0.0000
The PAGE Study	PuertoRican	Sub	7918	G=0.9981	C=0.0019
The PAGE Study	NativeHawaiian	Sub	4534	G=1.0000	C=0.0000
The PAGE Study	Cuban	Sub	4230	G=0.9986	C=0.0014
The PAGE Study	Dominican	Sub	3828	G=0.9976	C=0.0024
The PAGE Study	CentralAmerican	Sub	2450	G=0.9996	C=0.0004
The PAGE Study	SouthAmerican	Sub	1982	G=0.9995	C=0.0005
The PAGE Study	NativeAmerican	Sub	1260	G=0.9984	C=0.0016
The PAGE Study	SouthAsian	Sub	856	G=1.000	C=0.000
GO Exome Sequencing Project	Global	Study-wide	13006	G=0.99977	C=0.00023
GO Exome Sequencing Project	European American	Sub	8600	G=1.0000	C=0.0000
GO Exome Sequencing Project	African American	Sub	4406	G=0.9993	C=0.0007
1000Genomes_30x	Global	Study-wide	6404	G=0.9994	C=0.0006
1000Genomes_30x	African	Sub	1786	G=0.9983	C=0.0017
1000Genomes_30x	Europe	Sub	1266	G=1.0000	C=0.0000
1000Genomes_30x	South Asian	Sub	1202	G=1.0000	C=0.0000
1000Genomes_30x	East Asian	Sub	1170	G=1.0000	C=0.0000
1000Genomes_30x	American	Sub	980	G=0.999	C=0.001
1000Genomes	Global	Study-wide	5008	G=0.9994	C=0.0006
1000Genomes	African	Sub	1322	G=0.9985	C=0.0015
1000Genomes	East Asian	Sub	1008	G=1.0000	C=0.0000
1000Genomes	Europe	Sub	1006	G=1.0000	C=0.0000
1000Genomes	South Asian	Sub	978	G=1.000	C=0.000
1000Genomes	American	Sub	694	G=0.999	C=0.001
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.9997	C=0.0003
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.9997	C=0.0003

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.132642903G>A
GRCh38.p14 chr 12	NC_000012.12:g.132642903G>C
GRCh38.p14 chr 12	NC_000012.12:g.132642903G>T
GRCh37.p13 chr 12	NC_000012.11:g.133219489G>A
GRCh37.p13 chr 12	NC_000012.11:g.133219489G>C
GRCh37.p13 chr 12	NC_000012.11:g.133219489G>T
POLE RefSeqGene (LRG_789)	NG_033840.1:g.49622C>T
POLE RefSeqGene (LRG_789)	NG_033840.1:g.49622C>G
POLE RefSeqGene (LRG_789)	NG_033840.1:g.49622C>A

Gene: POLE, DNA polymerase epsilon, catalytic subunit (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
POLE transcript	NM_006231.4:c.4645C>T	P [CCC] > S [TCC]	Coding Sequence Variant
DNA polymerase epsilon catalytic subunit A	NP_006222.2:p.Pro1549Ser	P (Pro) > S (Ser)	Missense Variant
POLE transcript	NM_006231.4:c.4645C>G	P [CCC] > A [GCC]	Coding Sequence Variant
DNA polymerase epsilon catalytic subunit A	NP_006222.2:p.Pro1549Ala	P (Pro) > A (Ala)	Missense Variant
POLE transcript	NM_006231.4:c.4645C>A	P [CCC] > T [ACC]	Coding Sequence Variant
DNA polymerase epsilon catalytic subunit A	NP_006222.2:p.Pro1549Thr	P (Pro) > T (Thr)	Missense Variant
POLE transcript variant X1	XM_011534795.4:c.4645C>T	P [CCC] > S [TCC]	Coding Sequence Variant
DNA polymerase epsilon catalytic subunit A isoform X1	XP_011533097.1:p.Pro1549S… XP_011533097.1:p.Pro1549Ser	P (Pro) > S (Ser)	Missense Variant
POLE transcript variant X1	XM_011534795.4:c.4645C>G	P [CCC] > A [GCC]	Coding Sequence Variant
DNA polymerase epsilon catalytic subunit A isoform X1	XP_011533097.1:p.Pro1549A… XP_011533097.1:p.Pro1549Ala	P (Pro) > A (Ala)	Missense Variant
POLE transcript variant X1	XM_011534795.4:c.4645C>A	P [CCC] > T [ACC]	Coding Sequence Variant
DNA polymerase epsilon catalytic subunit A isoform X1	XP_011533097.1:p.Pro1549T… XP_011533097.1:p.Pro1549Thr	P (Pro) > T (Thr)	Missense Variant
POLE transcript variant X2	XM_011534797.4:c.3724C>T	P [CCC] > S [TCC]	Coding Sequence Variant
DNA polymerase epsilon catalytic subunit A isoform X2	XP_011533099.1:p.Pro1242S… XP_011533099.1:p.Pro1242Ser	P (Pro) > S (Ser)	Missense Variant
POLE transcript variant X2	XM_011534797.4:c.3724C>G	P [CCC] > A [GCC]	Coding Sequence Variant
DNA polymerase epsilon catalytic subunit A isoform X2	XP_011533099.1:p.Pro1242A… XP_011533099.1:p.Pro1242Ala	P (Pro) > A (Ala)	Missense Variant
POLE transcript variant X2	XM_011534797.4:c.3724C>A	P [CCC] > T [ACC]	Coding Sequence Variant
DNA polymerase epsilon catalytic subunit A isoform X2	XP_011533099.1:p.Pro1242T… XP_011533099.1:p.Pro1242Thr	P (Pro) > T (Thr)	Missense Variant
POLE transcript variant X3	XM_011534799.3:c.4645C>T	P [CCC] > S [TCC]	Coding Sequence Variant
DNA polymerase epsilon catalytic subunit A isoform X3	XP_011533101.1:p.Pro1549S… XP_011533101.1:p.Pro1549Ser	P (Pro) > S (Ser)	Missense Variant
POLE transcript variant X3	XM_011534799.3:c.4645C>G	P [CCC] > A [GCC]	Coding Sequence Variant
DNA polymerase epsilon catalytic subunit A isoform X3	XP_011533101.1:p.Pro1549A… XP_011533101.1:p.Pro1549Ala	P (Pro) > A (Ala)	Missense Variant
POLE transcript variant X3	XM_011534799.3:c.4645C>A	P [CCC] > T [ACC]	Coding Sequence Variant
DNA polymerase epsilon catalytic subunit A isoform X3	XP_011533101.1:p.Pro1549T… XP_011533101.1:p.Pro1549Thr	P (Pro) > T (Thr)	Missense Variant
POLE transcript variant X4	XM_047429018.1:c.4645C>T	P [CCC] > S [TCC]	Coding Sequence Variant
DNA polymerase epsilon catalytic subunit A isoform X4	XP_047284974.1:p.Pro1549S… XP_047284974.1:p.Pro1549Ser	P (Pro) > S (Ser)	Missense Variant
POLE transcript variant X4	XM_047429018.1:c.4645C>G	P [CCC] > A [GCC]	Coding Sequence Variant
DNA polymerase epsilon catalytic subunit A isoform X4	XP_047284974.1:p.Pro1549A… XP_047284974.1:p.Pro1549Ala	P (Pro) > A (Ala)	Missense Variant
POLE transcript variant X4	XM_047429018.1:c.4645C>A	P [CCC] > T [ACC]	Coding Sequence Variant
DNA polymerase epsilon catalytic subunit A isoform X4	XP_047284974.1:p.Pro1549T… XP_047284974.1:p.Pro1549Thr	P (Pro) > T (Thr)	Missense Variant
POLE transcript variant X6	XM_011534802.4:c.1633C>T	P [CCC] > S [TCC]	Coding Sequence Variant
DNA polymerase epsilon catalytic subunit A isoform X5	XP_011533104.1:p.Pro545Ser	P (Pro) > S (Ser)	Missense Variant
POLE transcript variant X6	XM_011534802.4:c.1633C>G	P [CCC] > A [GCC]	Coding Sequence Variant
DNA polymerase epsilon catalytic subunit A isoform X5	XP_011533104.1:p.Pro545Ala	P (Pro) > A (Ala)	Missense Variant
POLE transcript variant X6	XM_011534802.4:c.1633C>A	P [CCC] > T [ACC]	Coding Sequence Variant
DNA polymerase epsilon catalytic subunit A isoform X5	XP_011533104.1:p.Pro545Thr	P (Pro) > T (Thr)	Missense Variant
POLE transcript variant X5	XR_941395.3: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.

Allele: A (allele ID: 398624 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000466401.4	Colorectal cancer, susceptibility to, 12	Uncertain-Significance

Allele: C (allele ID: 241340 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000507787.3	not specified	Likely-Benign
RCV000760015.11	not provided	Conflicting-Interpretations-Of-Pathogenicity
RCV000988933.7	Colorectal cancer, susceptibility to, 12	Likely-Benign
RCV002258857.1	Hereditary cancer-predisposing syndrome	Likely-Benign

Allele: T (allele ID: 461828 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000548984.6	Colorectal cancer, susceptibility to, 12	Uncertain-Significance
RCV001770470.1	not provided	Uncertain-Significance

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 12	NC_000012.12:g.132642903=	NC_000012.12:g.132642903G>A	NC_000012.12:g.132642903G>C	NC_000012.12:g.132642903G>T
GRCh37.p13 chr 12	NC_000012.11:g.133219489=	NC_000012.11:g.133219489G>A	NC_000012.11:g.133219489G>C	NC_000012.11:g.133219489G>T
POLE RefSeqGene (LRG_789)	NG_033840.1:g.49622=	NG_033840.1:g.49622C>T	NG_033840.1:g.49622C>G	NG_033840.1:g.49622C>A
POLE transcript	NM_006231.4:c.4645=	NM_006231.4:c.4645C>T	NM_006231.4:c.4645C>G	NM_006231.4:c.4645C>A
POLE transcript	NM_006231.3:c.4645=	NM_006231.3:c.4645C>T	NM_006231.3:c.4645C>G	NM_006231.3:c.4645C>A
POLE transcript	NM_006231.2:c.4645=	NM_006231.2:c.4645C>T	NM_006231.2:c.4645C>G	NM_006231.2:c.4645C>A
POLE transcript variant X1	XM_011534795.4:c.4645=	XM_011534795.4:c.4645C>T	XM_011534795.4:c.4645C>G	XM_011534795.4:c.4645C>A
POLE transcript variant X1	XM_011534795.3:c.4645=	XM_011534795.3:c.4645C>T	XM_011534795.3:c.4645C>G	XM_011534795.3:c.4645C>A
POLE transcript variant X1	XM_011534795.2:c.4645=	XM_011534795.2:c.4645C>T	XM_011534795.2:c.4645C>G	XM_011534795.2:c.4645C>A
POLE transcript variant X1	XM_011534795.1:c.4645=	XM_011534795.1:c.4645C>T	XM_011534795.1:c.4645C>G	XM_011534795.1:c.4645C>A
POLE transcript variant X2	XM_011534797.4:c.3724=	XM_011534797.4:c.3724C>T	XM_011534797.4:c.3724C>G	XM_011534797.4:c.3724C>A
POLE transcript variant X2	XM_011534797.3:c.3724=	XM_011534797.3:c.3724C>T	XM_011534797.3:c.3724C>G	XM_011534797.3:c.3724C>A
POLE transcript variant X2	XM_011534797.2:c.3724=	XM_011534797.2:c.3724C>T	XM_011534797.2:c.3724C>G	XM_011534797.2:c.3724C>A
POLE transcript variant X3	XM_011534797.1:c.3724=	XM_011534797.1:c.3724C>T	XM_011534797.1:c.3724C>G	XM_011534797.1:c.3724C>A
POLE transcript variant X6	XM_011534802.4:c.1633=	XM_011534802.4:c.1633C>T	XM_011534802.4:c.1633C>G	XM_011534802.4:c.1633C>A
POLE transcript variant X7	XM_011534802.3:c.1633=	XM_011534802.3:c.1633C>T	XM_011534802.3:c.1633C>G	XM_011534802.3:c.1633C>A
POLE transcript variant X7	XM_011534802.2:c.1633=	XM_011534802.2:c.1633C>T	XM_011534802.2:c.1633C>G	XM_011534802.2:c.1633C>A
POLE transcript variant X9	XM_011534802.1:c.1633=	XM_011534802.1:c.1633C>T	XM_011534802.1:c.1633C>G	XM_011534802.1:c.1633C>A
POLE transcript variant X3	XM_011534799.3:c.4645=	XM_011534799.3:c.4645C>T	XM_011534799.3:c.4645C>G	XM_011534799.3:c.4645C>A
POLE transcript variant X4	XM_011534799.2:c.4645=	XM_011534799.2:c.4645C>T	XM_011534799.2:c.4645C>G	XM_011534799.2:c.4645C>A
POLE transcript variant X5	XM_011534799.1:c.4645=	XM_011534799.1:c.4645C>T	XM_011534799.1:c.4645C>G	XM_011534799.1:c.4645C>A
POLE transcript variant X4	XM_047429018.1:c.4645=	XM_047429018.1:c.4645C>T	XM_047429018.1:c.4645C>G	XM_047429018.1:c.4645C>A
DNA polymerase epsilon catalytic subunit A	NP_006222.2:p.Pro1549=	NP_006222.2:p.Pro1549Ser	NP_006222.2:p.Pro1549Ala	NP_006222.2:p.Pro1549Thr
DNA polymerase epsilon catalytic subunit A isoform X1	XP_011533097.1:p.Pro1549=	XP_011533097.1:p.Pro1549Ser	XP_011533097.1:p.Pro1549Ala	XP_011533097.1:p.Pro1549Thr
DNA polymerase epsilon catalytic subunit A isoform X2	XP_011533099.1:p.Pro1242=	XP_011533099.1:p.Pro1242Ser	XP_011533099.1:p.Pro1242Ala	XP_011533099.1:p.Pro1242Thr
DNA polymerase epsilon catalytic subunit A isoform X5	XP_011533104.1:p.Pro545=	XP_011533104.1:p.Pro545Ser	XP_011533104.1:p.Pro545Ala	XP_011533104.1:p.Pro545Thr
DNA polymerase epsilon catalytic subunit A isoform X3	XP_011533101.1:p.Pro1549=	XP_011533101.1:p.Pro1549Ser	XP_011533101.1:p.Pro1549Ala	XP_011533101.1:p.Pro1549Thr
DNA polymerase epsilon catalytic subunit A isoform X4	XP_047284974.1:p.Pro1549=	XP_047284974.1:p.Pro1549Ser	XP_047284974.1:p.Pro1549Ala	XP_047284974.1:p.Pro1549Thr

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#.

42 SubSNP, 15 Frequency, 7 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	NHLBI-ESP	ss342371928	May 09, 2011 (134)
2	1000GENOMES	ss489011753	May 04, 2012 (137)
3	EXOME_CHIP	ss491476368	May 04, 2012 (137)
4	ILLUMINA	ss780694706	Sep 08, 2015 (146)
5	ILLUMINA	ss783368650	Sep 08, 2015 (146)
6	1000GENOMES	ss1347292235	Aug 21, 2014 (142)
7	EVA_UK10K_ALSPAC	ss1629790172	Apr 01, 2015 (144)
8	EVA_UK10K_TWINSUK	ss1672784205	Apr 01, 2015 (144)
9	EVA_EXAC	ss1691206395	Apr 01, 2015 (144)
10	EVA_EXAC	ss1691206396	Apr 01, 2015 (144)
11	ILLUMINA	ss1752056501	Sep 08, 2015 (146)
12	ILLUMINA	ss1917881136	Feb 12, 2016 (147)
13	ILLUMINA	ss1946354884	Feb 12, 2016 (147)
14	ILLUMINA	ss1959481984	Feb 12, 2016 (147)
15	HUMAN_LONGEVITY	ss2194515760	Dec 20, 2016 (150)
16	GNOMAD	ss2740284811	Nov 08, 2017 (151)
17	GNOMAD	ss2749008395	Nov 08, 2017 (151)
18	GNOMAD	ss2917011339	Nov 08, 2017 (151)
19	AFFY	ss2984997107	Nov 08, 2017 (151)
20	ILLUMINA	ss3021485184	Nov 08, 2017 (151)
21	ILLUMINA	ss3634532941	Oct 12, 2018 (152)
22	ILLUMINA	ss3640240274	Oct 12, 2018 (152)
23	ILLUMINA	ss3644607898	Oct 12, 2018 (152)
24	ILLUMINA	ss3651869854	Oct 12, 2018 (152)
25	ILLUMINA	ss3653767385	Oct 12, 2018 (152)
26	ILLUMINA	ss3725373762	Jul 13, 2019 (153)
27	ILLUMINA	ss3744403517	Jul 13, 2019 (153)
28	ILLUMINA	ss3744833709	Jul 13, 2019 (153)
29	PAGE_CC	ss3771730661	Jul 13, 2019 (153)
30	ILLUMINA	ss3772332849	Jul 13, 2019 (153)
31	EVA	ss3824792104	Apr 27, 2020 (154)
32	TOPMED	ss4938176487	Apr 26, 2021 (155)
33	TOPMED	ss4938176488	Apr 26, 2021 (155)
34	1000G_HIGH_COVERAGE	ss5292822005	Oct 16, 2022 (156)
35	EVA	ss5409288800	Oct 16, 2022 (156)
36	HUGCELL_USP	ss5487360318	Oct 16, 2022 (156)
37	1000G_HIGH_COVERAGE	ss5591310261	Oct 16, 2022 (156)
38	EVA	ss5847690196	Oct 16, 2022 (156)
39	EVA	ss5906684094	Oct 16, 2022 (156)
40	EVA	ss5936157259	Oct 16, 2022 (156)
41	EVA	ss5936157260	Oct 16, 2022 (156)
42	EVA	ss5945702207	Oct 16, 2022 (156)
43	1000Genomes	NC_000012.11 - 133219489	Oct 12, 2018 (152)
44	1000Genomes_30x	NC_000012.12 - 132642903	Oct 16, 2022 (156)
45	The Avon Longitudinal Study of Parents and Children	NC_000012.11 - 133219489	Oct 12, 2018 (152)
46	ExAC Submission ignored due to conflicting rows: Row 1528153 (NC_000012.11:133219488:G:G 120718/120766, NC_000012.11:133219488:G:C 48/120766) Row 1528154 (NC_000012.11:133219488:G:G 120765/120766, NC_000012.11:133219488:G:A 1/120766)	-	Oct 12, 2018 (152)
47	ExAC Submission ignored due to conflicting rows: Row 1528153 (NC_000012.11:133219488:G:G 120718/120766, NC_000012.11:133219488:G:C 48/120766) Row 1528154 (NC_000012.11:133219488:G:G 120765/120766, NC_000012.11:133219488:G:A 1/120766)	-	Oct 12, 2018 (152)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 423978255 (NC_000012.12:132642902:G:C 36/140286) Row 423978256 (NC_000012.12:132642902:G:T 1/140286)	-	Apr 26, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 423978255 (NC_000012.12:132642902:G:C 36/140286) Row 423978256 (NC_000012.12:132642902:G:T 1/140286)	-	Apr 26, 2021 (155)
50	gnomAD - Exomes Submission ignored due to conflicting rows: Row 9525767 (NC_000012.11:133219488:G:G 250747/250748, NC_000012.11:133219488:G:A 1/250748) Row 9525768 (NC_000012.11:133219488:G:G 250654/250748, NC_000012.11:133219488:G:C 94/250748)	-	Jul 13, 2019 (153)
51	gnomAD - Exomes Submission ignored due to conflicting rows: Row 9525767 (NC_000012.11:133219488:G:G 250747/250748, NC_000012.11:133219488:G:A 1/250748) Row 9525768 (NC_000012.11:133219488:G:G 250654/250748, NC_000012.11:133219488:G:C 94/250748)	-	Jul 13, 2019 (153)
52	GO Exome Sequencing Project	NC_000012.11 - 133219489	Oct 12, 2018 (152)
53	The PAGE Study	NC_000012.12 - 132642903	Jul 13, 2019 (153)
54	TopMed Submission ignored due to conflicting rows: Row 153722144 (NC_000012.12:132642902:G:C 137/264690) Row 153722145 (NC_000012.12:132642902:G:T 2/264690)	-	Apr 26, 2021 (155)
55	TopMed Submission ignored due to conflicting rows: Row 153722144 (NC_000012.12:132642902:G:C 137/264690) Row 153722145 (NC_000012.12:132642902:G:T 2/264690)	-	Apr 26, 2021 (155)
56	UK 10K study - Twins	NC_000012.11 - 133219489	Oct 12, 2018 (152)
57	ALFA	NC_000012.12 - 132642903	Apr 26, 2021 (155)
58	ClinVar	RCV000466401.4	Oct 16, 2022 (156)
59	ClinVar	RCV000507787.3	Oct 16, 2022 (156)
60	ClinVar	RCV000548984.6	Oct 16, 2022 (156)
61	ClinVar	RCV000760015.11	Oct 16, 2022 (156)
62	ClinVar	RCV000988933.7	Oct 16, 2022 (156)
63	ClinVar	RCV001770470.1	Oct 16, 2022 (156)
64	ClinVar	RCV002258857.1	Oct 16, 2022 (156)

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
ss1691206396, ss2740284811, ss5936157259	NC_000012.11:133219488:G:A	NC_000012.12:132642902:G:A	(self)
RCV000466401.4	NC_000012.12:132642902:G:A	NC_000012.12:132642902:G:A	(self)
60127335, 33397546, 1249504, 33397546, ss342371928, ss489011753, ss491476368, ss780694706, ss783368650, ss1347292235, ss1629790172, ss1672784205, ss1691206395, ss1752056501, ss1917881136, ss1946354884, ss1959481984, ss2740284811, ss2749008395, ss2917011339, ss2984997107, ss3021485184, ss3634532941, ss3640240274, ss3644607898, ss3651869854, ss3653767385, ss3744403517, ss3744833709, ss3772332849, ss3824792104, ss5409288800, ss5847690196, ss5936157260, ss5945702207	NC_000012.11:133219488:G:C	NC_000012.12:132642902:G:C	(self)
RCV000507787.3, RCV000760015.11, RCV000988933.7, RCV002258857.1, 78836196, 952130, 9346705574, ss2194515760, ss3725373762, ss3771730661, ss4938176487, ss5292822005, ss5487360318, ss5591310261, ss5906684094	NC_000012.12:132642902:G:C	NC_000012.12:132642902:G:C	(self)
ss2749008395, ss2917011339, ss5936157259	NC_000012.11:133219488:G:T	NC_000012.12:132642902:G:T	(self)
RCV000548984.6, RCV001770470.1, 9346705574, ss4938176488	NC_000012.12:132642902:G:T	NC_000012.12:132642902:G:T	(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 rs147500308

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

rs147500308