Name: rs74045046
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.

rs74045046

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:976536 (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: C>A / C>G / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.172205 (45581/264690, TOPMED)
T=0.176308 (24686/140016, GnomAD)
T=0.16335 (8977/54956, ALFA) (+ 17 more)
T=0.07801 (2204/28254, 14KJPN)
T=0.07860 (1317/16756, 8.3KJPN)
T=0.18995 (2874/15130, ExAC)
T=0.1843 (1180/6404, 1000G_30x)
T=0.1823 (913/5008, 1000G)
T=0.1699 (761/4480, Estonian)
T=0.1611 (621/3854, ALSPAC)
T=0.1456 (540/3708, TWINSUK)
T=0.0465 (136/2922, KOREAN)
T=0.0539 (96/1782, Korea1K)
T=0.128 (77/600, NorthernSweden)
T=0.185 (99/534, MGP)
T=0.338 (73/216, Qatari)
T=0.083 (18/216, Vietnamese)
C=0.433 (58/134, SGDP_PRJ)
T=0.25 (10/40, GENOME_DK)
C=0.45 (10/22, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: PERM1 : 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	71310	C=0.83373	T=0.16627
European	Sub	50936	C=0.83831	T=0.16169
African	Sub	8944	C=0.7784	T=0.2216
African Others	Sub	324	C=0.759	T=0.241
African American	Sub	8620	C=0.7791	T=0.2209
Asian	Sub	472	C=0.945	T=0.055
East Asian	Sub	382	C=0.953	T=0.047
Other Asian	Sub	90	C=0.91	T=0.09
Latin American 1	Sub	260	C=0.827	T=0.173
Latin American 2	Sub	4934	C=0.8697	T=0.1303
South Asian	Sub	132	C=0.788	T=0.212
Other	Sub	5632	C=0.8407	T=0.1593

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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	C=0.827795	T=0.172205
gnomAD - Genomes	Global	Study-wide	140016	C=0.823692	T=0.176308
gnomAD - Genomes	European	Sub	75876	C=0.83254	T=0.16746
gnomAD - Genomes	African	Sub	41892	C=0.78005	T=0.21995
gnomAD - Genomes	American	Sub	13640	C=0.87324	T=0.12676
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	C=0.8529	T=0.1471
gnomAD - Genomes	East Asian	Sub	3132	C=0.9441	T=0.0559
gnomAD - Genomes	Other	Sub	2152	C=0.8267	T=0.1733
Allele Frequency Aggregator	Total	Global	54956	C=0.83665	T=0.16335
Allele Frequency Aggregator	European	Sub	40854	C=0.83671	T=0.16329
Allele Frequency Aggregator	Latin American 2	Sub	4934	C=0.8697	T=0.1303
Allele Frequency Aggregator	Other	Sub	4198	C=0.8414	T=0.1586
Allele Frequency Aggregator	African	Sub	4106	C=0.7813	T=0.2187
Allele Frequency Aggregator	Asian	Sub	472	C=0.945	T=0.055
Allele Frequency Aggregator	Latin American 1	Sub	260	C=0.827	T=0.173
Allele Frequency Aggregator	South Asian	Sub	132	C=0.788	T=0.212
14KJPN	JAPANESE	Study-wide	28254	C=0.92199	T=0.07801
8.3KJPN	JAPANESE	Study-wide	16756	C=0.92140	T=0.07860
ExAC	Global	Study-wide	15130	C=0.81005	T=0.18995
ExAC	Asian	Sub	8152	C=0.8031	T=0.1969
ExAC	Europe	Sub	5614	C=0.8276	T=0.1724
ExAC	African	Sub	906	C=0.769	T=0.231
ExAC	American	Sub	290	C=0.834	T=0.166
ExAC	Other	Sub	168	C=0.738	T=0.262
1000Genomes_30x	Global	Study-wide	6404	C=0.8157	T=0.1843
1000Genomes_30x	African	Sub	1786	C=0.7284	T=0.2716
1000Genomes_30x	Europe	Sub	1266	C=0.8389	T=0.1611
1000Genomes_30x	South Asian	Sub	1202	C=0.7662	T=0.2338
1000Genomes_30x	East Asian	Sub	1170	C=0.9299	T=0.0701
1000Genomes_30x	American	Sub	980	C=0.869	T=0.131
1000Genomes	Global	Study-wide	5008	C=0.8177	T=0.1823
1000Genomes	African	Sub	1322	C=0.7300	T=0.2700
1000Genomes	East Asian	Sub	1008	C=0.9256	T=0.0744
1000Genomes	Europe	Sub	1006	C=0.8370	T=0.1630
1000Genomes	South Asian	Sub	978	C=0.766	T=0.234
1000Genomes	American	Sub	694	C=0.873	T=0.127
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.8301	T=0.1699
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.8389	T=0.1611
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.8544	T=0.1456
KOREAN population from KRGDB	KOREAN	Study-wide	2922	C=0.9535	T=0.0465
Korean Genome Project	KOREAN	Study-wide	1782	C=0.9461	T=0.0539
Northern Sweden	ACPOP	Study-wide	600	C=0.872	T=0.128
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	C=0.815	T=0.185
Qatari	Global	Study-wide	216	C=0.662	T=0.338
A Vietnamese Genetic Variation Database	Global	Study-wide	216	C=0.917	T=0.083
SGDP_PRJ	Global	Study-wide	134	C=0.433	T=0.567
The Danish reference pan genome	Danish	Study-wide	40	C=0.75	T=0.25
Siberian	Global	Study-wide	22	C=0.45	T=0.55

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 1	NC_000001.11:g.976536C>A
GRCh38.p14 chr 1	NC_000001.11:g.976536C>G
GRCh38.p14 chr 1	NC_000001.11:g.976536C>T
GRCh37.p13 chr 1	NC_000001.10:g.911916C>A
GRCh37.p13 chr 1	NC_000001.10:g.911916C>G
GRCh37.p13 chr 1	NC_000001.10:g.911916C>T

Gene: PERM1, PPARGC1 and ESRR induced regulator, muscle 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
PERM1 transcript variant 1	NM_001291366.2:c.2238G>T	R [AGG] > S [AGT]	Coding Sequence Variant
PGC-1 and ERR-induced regulator in muscle protein 1 isoform 1	NP_001278295.1:p.Arg746Ser	R (Arg) > S (Ser)	Missense Variant
PERM1 transcript variant 1	NM_001291366.2:c.2238G>C	R [AGG] > S [AGC]	Coding Sequence Variant
PGC-1 and ERR-induced regulator in muscle protein 1 isoform 1	NP_001278295.1:p.Arg746Ser	R (Arg) > S (Ser)	Missense Variant
PERM1 transcript variant 1	NM_001291366.2:c.2238G>A	R [AGG] > R [AGA]	Coding Sequence Variant
PGC-1 and ERR-induced regulator in muscle protein 1 isoform 1	NP_001278295.1:p.Arg746=	R (Arg) > R (Arg)	Synonymous Variant
PERM1 transcript variant 2	NM_001291367.2:c.1896G>T	R [AGG] > S [AGT]	Coding Sequence Variant
PGC-1 and ERR-induced regulator in muscle protein 1 isoform 2	NP_001278296.2:p.Arg632Ser	R (Arg) > S (Ser)	Missense Variant
PERM1 transcript variant 2	NM_001291367.2:c.1896G>C	R [AGG] > S [AGC]	Coding Sequence Variant
PGC-1 and ERR-induced regulator in muscle protein 1 isoform 2	NP_001278296.2:p.Arg632Ser	R (Arg) > S (Ser)	Missense Variant
PERM1 transcript variant 2	NM_001291367.2:c.1896G>A	R [AGG] > R [AGA]	Coding Sequence Variant
PGC-1 and ERR-induced regulator in muscle protein 1 isoform 2	NP_001278296.2:p.Arg632=	R (Arg) > R (Arg)	Synonymous Variant
PERM1 transcript variant 3	NM_001369897.1:c.2238G>T	R [AGG] > S [AGT]	Coding Sequence Variant
PGC-1 and ERR-induced regulator in muscle protein 1 isoform 1	NP_001356826.1:p.Arg746Ser	R (Arg) > S (Ser)	Missense Variant
PERM1 transcript variant 3	NM_001369897.1:c.2238G>C	R [AGG] > S [AGC]	Coding Sequence Variant
PGC-1 and ERR-induced regulator in muscle protein 1 isoform 1	NP_001356826.1:p.Arg746Ser	R (Arg) > S (Ser)	Missense Variant
PERM1 transcript variant 3	NM_001369897.1:c.2238G>A	R [AGG] > R [AGA]	Coding Sequence Variant
PGC-1 and ERR-induced regulator in muscle protein 1 isoform 1	NP_001356826.1:p.Arg746=	R (Arg) > R (Arg)	Synonymous Variant
PERM1 transcript variant 4	NM_001369898.1:c.2172G>T	R [AGG] > S [AGT]	Coding Sequence Variant
PGC-1 and ERR-induced regulator in muscle protein 1 isoform 3	NP_001356827.1:p.Arg724Ser	R (Arg) > S (Ser)	Missense Variant
PERM1 transcript variant 4	NM_001369898.1:c.2172G>C	R [AGG] > S [AGC]	Coding Sequence Variant
PGC-1 and ERR-induced regulator in muscle protein 1 isoform 3	NP_001356827.1:p.Arg724Ser	R (Arg) > S (Ser)	Missense Variant
PERM1 transcript variant 4	NM_001369898.1:c.2172G>A	R [AGG] > R [AGA]	Coding Sequence Variant
PGC-1 and ERR-induced regulator in muscle protein 1 isoform 3	NP_001356827.1:p.Arg724=	R (Arg) > R (Arg)	Synonymous Variant
PERM1 transcript variant 5	NM_001394713.1:c.2238G>T	R [AGG] > S [AGT]	Coding Sequence Variant
PGC-1 and ERR-induced regulator in muscle protein 1 isoform 1	NP_001381642.1:p.Arg746Ser	R (Arg) > S (Ser)	Missense Variant
PERM1 transcript variant 5	NM_001394713.1:c.2238G>C	R [AGG] > S [AGC]	Coding Sequence Variant
PGC-1 and ERR-induced regulator in muscle protein 1 isoform 1	NP_001381642.1:p.Arg746Ser	R (Arg) > S (Ser)	Missense Variant
PERM1 transcript variant 5	NM_001394713.1:c.2238G>A	R [AGG] > R [AGA]	Coding Sequence Variant
PGC-1 and ERR-induced regulator in muscle protein 1 isoform 1	NP_001381642.1:p.Arg746=	R (Arg) > R (Arg)	Synonymous 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	C=	A	G	T
GRCh38.p14 chr 1	NC_000001.11:g.976536=	NC_000001.11:g.976536C>A	NC_000001.11:g.976536C>G	NC_000001.11:g.976536C>T
GRCh37.p13 chr 1	NC_000001.10:g.911916=	NC_000001.10:g.911916C>A	NC_000001.10:g.911916C>G	NC_000001.10:g.911916C>T
PERM1 transcript variant 1	NM_001291366.2:c.2238=	NM_001291366.2:c.2238G>T	NM_001291366.2:c.2238G>C	NM_001291366.2:c.2238G>A
PERM1 transcript variant 1	NM_001291366.1:c.2238=	NM_001291366.1:c.2238G>T	NM_001291366.1:c.2238G>C	NM_001291366.1:c.2238G>A
PERM1 transcript variant 2	NM_001291367.2:c.1896=	NM_001291367.2:c.1896G>T	NM_001291367.2:c.1896G>C	NM_001291367.2:c.1896G>A
PERM1 transcript variant 2	NM_001291367.1:c.1956=	NM_001291367.1:c.1956G>T	NM_001291367.1:c.1956G>C	NM_001291367.1:c.1956G>A
MGC13275 transcript	NM_032722.2:c.42=	NM_032722.2:c.42G>T	NM_032722.2:c.42G>C	NM_032722.2:c.42G>A
PERM1 transcript variant 3	NM_001369897.1:c.2238=	NM_001369897.1:c.2238G>T	NM_001369897.1:c.2238G>C	NM_001369897.1:c.2238G>A
PERM1 transcript variant 5	NM_001394713.1:c.2238=	NM_001394713.1:c.2238G>T	NM_001394713.1:c.2238G>C	NM_001394713.1:c.2238G>A
PERM1 transcript variant 4	NM_001369898.1:c.2172=	NM_001369898.1:c.2172G>T	NM_001369898.1:c.2172G>C	NM_001369898.1:c.2172G>A
PERM1 transcript	NR_027693.1:n.1932=	NR_027693.1:n.1932G>T	NR_027693.1:n.1932G>C	NR_027693.1:n.1932G>A
MGC13275 transcript	NM_032722.1:c.42=	NM_032722.1:c.42G>T	NM_032722.1:c.42G>C	NM_032722.1:c.42G>A
PGC-1 and ERR-induced regulator in muscle protein 1 isoform 1	NP_001278295.1:p.Arg746=	NP_001278295.1:p.Arg746Ser	NP_001278295.1:p.Arg746Ser	NP_001278295.1:p.Arg746=
PGC-1 and ERR-induced regulator in muscle protein 1 isoform 2	NP_001278296.2:p.Arg632=	NP_001278296.2:p.Arg632Ser	NP_001278296.2:p.Arg632Ser	NP_001278296.2:p.Arg632=
PGC-1 and ERR-induced regulator in muscle protein 1 isoform 1	NP_001356826.1:p.Arg746=	NP_001356826.1:p.Arg746Ser	NP_001356826.1:p.Arg746Ser	NP_001356826.1:p.Arg746=
PGC-1 and ERR-induced regulator in muscle protein 1 isoform 1	NP_001381642.1:p.Arg746=	NP_001381642.1:p.Arg746Ser	NP_001381642.1:p.Arg746Ser	NP_001381642.1:p.Arg746=
PGC-1 and ERR-induced regulator in muscle protein 1 isoform 3	NP_001356827.1:p.Arg724=	NP_001356827.1:p.Arg724Ser	NP_001356827.1:p.Arg724Ser	NP_001356827.1:p.Arg724=

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#.

78 SubSNP, 22 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ILLUMINA-UK	ss118439363	Feb 14, 2009 (130)
2	ILLUMINA	ss159848596	Dec 01, 2009 (131)
3	COMPLETE_GENOMICS	ss163704448	Jul 04, 2010 (132)
4	ILLUMINA	ss168871278	Jul 04, 2010 (132)
5	BUSHMAN	ss197887013	Jul 04, 2010 (132)
6	1000GENOMES	ss218191235	Jul 14, 2010 (132)
7	1000GENOMES	ss230396005	Jul 14, 2010 (132)
8	1000GENOMES	ss238115610	Jul 15, 2010 (132)
9	ILLUMINA	ss479154489	Sep 08, 2015 (146)
10	ILLUMINA	ss479809850	May 04, 2012 (137)
11	ILLUMINA	ss482429253	May 04, 2012 (137)
12	CLINSEQ_SNP	ss491581749	May 04, 2012 (137)
13	ILLUMINA	ss533298005	Sep 08, 2015 (146)
14	TISHKOFF	ss553711890	Apr 25, 2013 (138)
15	SSMP	ss647517433	Apr 25, 2013 (138)
16	ILLUMINA	ss779655993	Sep 08, 2015 (146)
17	ILLUMINA	ss781074122	Sep 08, 2015 (146)
18	ILLUMINA	ss835129163	Sep 08, 2015 (146)
19	EVA-GONL	ss974770702	Aug 21, 2014 (142)
20	JMKIDD_LAB	ss1067612982	Aug 21, 2014 (142)
21	1000GENOMES	ss1289344917	Aug 21, 2014 (142)
22	DDI	ss1425685368	Apr 01, 2015 (144)
23	EVA_GENOME_DK	ss1573851550	Apr 01, 2015 (144)
24	EVA_DECODE	ss1584130654	Apr 01, 2015 (144)
25	EVA_UK10K_ALSPAC	ss1599380320	Apr 01, 2015 (144)
26	EVA_UK10K_TWINSUK	ss1642374353	Apr 01, 2015 (144)
27	EVA_EXAC	ss1685221616	Apr 01, 2015 (144)
28	EVA_MGP	ss1710883537	Apr 01, 2015 (144)
29	HAMMER_LAB	ss1793713782	Sep 08, 2015 (146)
30	WEILL_CORNELL_DGM	ss1917962228	Feb 12, 2016 (147)
31	JJLAB	ss2019499111	Sep 14, 2016 (149)
32	USC_VALOUEV	ss2147485649	Dec 20, 2016 (150)
33	HUMAN_LONGEVITY	ss2159375057	Dec 20, 2016 (150)
34	ILLUMINA	ss2632465602	Nov 08, 2017 (151)
35	GRF	ss2697376598	Nov 08, 2017 (151)
36	GNOMAD	ss2730992911	Nov 08, 2017 (151)
37	GNOMAD	ss2746171614	Nov 08, 2017 (151)
38	GNOMAD	ss2750655850	Nov 08, 2017 (151)
39	SWEGEN	ss2986151951	Nov 08, 2017 (151)
40	BIOINF_KMB_FNS_UNIBA	ss3023513969	Nov 08, 2017 (151)
41	CSHL	ss3343273453	Nov 08, 2017 (151)
42	ILLUMINA	ss3626006838	Oct 11, 2018 (152)
43	ILLUMINA	ss3630505693	Oct 11, 2018 (152)
44	ILLUMINA	ss3635978658	Oct 11, 2018 (152)
45	ILLUMINA	ss3637732427	Oct 11, 2018 (152)
46	ILLUMINA	ss3641566248	Oct 11, 2018 (152)
47	OMUKHERJEE_ADBS	ss3646218831	Oct 11, 2018 (152)
48	EGCUT_WGS	ss3654263209	Jul 12, 2019 (153)
49	EVA_DECODE	ss3685994854	Jul 12, 2019 (153)
50	ACPOP	ss3726717480	Jul 12, 2019 (153)
51	EVA	ss3745722611	Jul 12, 2019 (153)
52	KHV_HUMAN_GENOMES	ss3798745309	Jul 12, 2019 (153)
53	EVA	ss3825549038	Apr 25, 2020 (154)
54	EVA	ss3825982024	Apr 25, 2020 (154)
55	SGDP_PRJ	ss3847999644	Apr 25, 2020 (154)
56	KRGDB	ss3892841630	Apr 25, 2020 (154)
57	KOGIC	ss3943632910	Apr 25, 2020 (154)
58	FSA-LAB	ss3983910454	Apr 25, 2021 (155)
59	FSA-LAB	ss3983910455	Apr 25, 2021 (155)
60	EVA	ss3986090855	Apr 25, 2021 (155)
61	TOPMED	ss4436477378	Apr 25, 2021 (155)
62	TOMMO_GENOMICS	ss5142059631	Apr 25, 2021 (155)
63	EVA	ss5236862326	Apr 25, 2021 (155)
64	EVA	ss5237158370	Apr 25, 2021 (155)
65	1000G_HIGH_COVERAGE	ss5240868524	Oct 12, 2022 (156)
66	EVA	ss5314585961	Oct 12, 2022 (156)
67	EVA	ss5316191938	Oct 12, 2022 (156)
68	HUGCELL_USP	ss5442116113	Oct 12, 2022 (156)
69	1000G_HIGH_COVERAGE	ss5512495296	Oct 12, 2022 (156)
70	EVA	ss5623985544	Oct 12, 2022 (156)
71	SANFORD_IMAGENETICS	ss5624752530	Oct 12, 2022 (156)
72	TOMMO_GENOMICS	ss5666201390	Oct 12, 2022 (156)
73	YY_MCH	ss5800245129	Oct 12, 2022 (156)
74	EVA	ss5831420584	Oct 12, 2022 (156)
75	EVA	ss5848243233	Oct 12, 2022 (156)
76	EVA	ss5906709724	Oct 12, 2022 (156)
77	EVA	ss5936585160	Oct 12, 2022 (156)
78	EVA	ss5979926221	Oct 12, 2022 (156)
79	1000Genomes	NC_000001.10 - 911916	Oct 11, 2018 (152)
80	1000Genomes_30x	NC_000001.11 - 976536	Oct 12, 2022 (156)
81	The Avon Longitudinal Study of Parents and Children	NC_000001.10 - 911916	Oct 11, 2018 (152)
82	Genetic variation in the Estonian population	NC_000001.10 - 911916	Oct 11, 2018 (152)
83	ExAC	NC_000001.10 - 911916	Oct 11, 2018 (152)
84	The Danish reference pan genome	NC_000001.10 - 911916	Apr 25, 2020 (154)
85	gnomAD - Genomes	NC_000001.11 - 976536	Apr 25, 2021 (155)
86	gnomAD - Exomes Submission ignored due to conflicting rows: Row 7764 (NC_000001.10:911915:C:C 150221/150222, NC_000001.10:911915:C:A 1/150222) Row 7765 (NC_000001.10:911915:C:C 126492/150222, NC_000001.10:911915:C:T 23730/150222)	-	Jul 12, 2019 (153)
87	gnomAD - Exomes Submission ignored due to conflicting rows: Row 7764 (NC_000001.10:911915:C:C 150221/150222, NC_000001.10:911915:C:A 1/150222) Row 7765 (NC_000001.10:911915:C:C 126492/150222, NC_000001.10:911915:C:T 23730/150222)	-	Jul 12, 2019 (153)
88	KOREAN population from KRGDB	NC_000001.10 - 911916	Apr 25, 2020 (154)
89	Korean Genome Project	NC_000001.11 - 976536	Apr 25, 2020 (154)
90	Medical Genome Project healthy controls from Spanish population	NC_000001.10 - 911916	Apr 25, 2020 (154)
91	Northern Sweden	NC_000001.10 - 911916	Jul 12, 2019 (153)
92	Qatari	NC_000001.10 - 911916	Apr 25, 2020 (154)
93	SGDP_PRJ	NC_000001.10 - 911916	Apr 25, 2020 (154)
94	Siberian	NC_000001.10 - 911916	Apr 25, 2020 (154)
95	8.3KJPN	NC_000001.10 - 911916	Apr 25, 2021 (155)
96	14KJPN	NC_000001.11 - 976536	Oct 12, 2022 (156)
97	TopMed	NC_000001.11 - 976536	Apr 25, 2021 (155)
98	UK 10K study - Twins	NC_000001.10 - 911916	Oct 11, 2018 (152)
99	A Vietnamese Genetic Variation Database	NC_000001.10 - 911916	Jul 12, 2019 (153)
100	ALFA	NC_000001.11 - 976536	Apr 25, 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)
rs117293084	Aug 16, 2010 (132)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss2730992911	NC_000001.10:911915:C:A	NC_000001.11:976535:C:A	(self)
ss197887013	NC_000001.9:901778:C:G	NC_000001.11:976535:C:G	(self)
ss118439363, ss163704448, ss482429253, ss491581749, ss1584130654	NC_000001.9:901778:C:T	NC_000001.11:976535:C:T	(self)
9870, 2495, 1457, 4395044, 1358784, 19024, 289, 2345, 4158, 16624, 2003, 28938, 2495, 580, ss218191235, ss230396005, ss238115610, ss479154489, ss479809850, ss533298005, ss553711890, ss647517433, ss779655993, ss781074122, ss835129163, ss974770702, ss1067612982, ss1289344917, ss1425685368, ss1573851550, ss1599380320, ss1642374353, ss1685221616, ss1710883537, ss1793713782, ss1917962228, ss2019499111, ss2147485649, ss2632465602, ss2697376598, ss2730992911, ss2746171614, ss2750655850, ss2986151951, ss3343273453, ss3626006838, ss3630505693, ss3635978658, ss3637732427, ss3641566248, ss3646218831, ss3654263209, ss3726717480, ss3745722611, ss3825549038, ss3825982024, ss3847999644, ss3892841630, ss3983910454, ss3983910455, ss3986090855, ss5142059631, ss5314585961, ss5316191938, ss5623985544, ss5624752530, ss5831420584, ss5848243233, ss5936585160, ss5979926221	NC_000001.10:911915:C:T	NC_000001.11:976535:C:T	(self)
21231, 103072, 10911, 38494, 83713, 1076002614, ss2159375057, ss3023513969, ss3685994854, ss3798745309, ss3943632910, ss4436477378, ss5236862326, ss5237158370, ss5240868524, ss5442116113, ss5512495296, ss5666201390, ss5800245129, ss5906709724	NC_000001.11:976535:C:T	NC_000001.11:976535:C:T	(self)
ss159848596, ss168871278	NT_004350.19:390547:C:T	NC_000001.11:976535:C: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 rs74045046

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

rs74045046