Name: rs61811370
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.

rs61811370

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:154565026 (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: T>A
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.106426 (28170/264690, TOPMED)
A=0.100534 (14075/140002, GnomAD)
A=0.11187 (3161/28256, 14KJPN) (+ 16 more)
A=0.08830 (1668/18890, ALFA)
A=0.11462 (1921/16760, 8.3KJPN)
A=0.1307 (837/6404, 1000G_30x)
A=0.1296 (649/5008, 1000G)
A=0.0652 (292/4480, Estonian)
A=0.0864 (333/3854, ALSPAC)
A=0.0855 (317/3708, TWINSUK)
A=0.1577 (462/2930, KOREAN)
A=0.1408 (258/1832, Korea1K)
A=0.068 (68/998, GoNL)
A=0.090 (54/600, NorthernSweden)
A=0.181 (39/216, Qatari)
T=0.446 (74/166, SGDP_PRJ)
A=0.07 (3/40, GENOME_DK)
T=0.5 (5/10, Siberian)
A=0.5 (5/10, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: LOC107985206 : Non Coding Transcript 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	18890	T=0.91170	A=0.08830
European	Sub	14286	T=0.92097	A=0.07903
African	Sub	2946	T=0.8812	A=0.1188
African Others	Sub	114	T=0.851	A=0.149
African American	Sub	2832	T=0.8824	A=0.1176
Asian	Sub	112	T=0.902	A=0.098
East Asian	Sub	86	T=0.90	A=0.10
Other Asian	Sub	26	T=0.92	A=0.08
Latin American 1	Sub	146	T=0.884	A=0.116
Latin American 2	Sub	610	T=0.884	A=0.116
South Asian	Sub	98	T=0.84	A=0.16
Other	Sub	692	T=0.893	A=0.107

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	T=0.893574	A=0.106426
gnomAD - Genomes	Global	Study-wide	140002	T=0.899466	A=0.100534
gnomAD - Genomes	European	Sub	75848	T=0.92128	A=0.07872
gnomAD - Genomes	African	Sub	41910	T=0.86841	A=0.13159
gnomAD - Genomes	American	Sub	13656	T=0.88943	A=0.11057
gnomAD - Genomes	Ashkenazi Jewish	Sub	3318	T=0.8650	A=0.1350
gnomAD - Genomes	East Asian	Sub	3124	T=0.8768	A=0.1232
gnomAD - Genomes	Other	Sub	2146	T=0.8854	A=0.1146
14KJPN	JAPANESE	Study-wide	28256	T=0.88813	A=0.11187
Allele Frequency Aggregator	Total	Global	18890	T=0.91170	A=0.08830
Allele Frequency Aggregator	European	Sub	14286	T=0.92097	A=0.07903
Allele Frequency Aggregator	African	Sub	2946	T=0.8812	A=0.1188
Allele Frequency Aggregator	Other	Sub	692	T=0.893	A=0.107
Allele Frequency Aggregator	Latin American 2	Sub	610	T=0.884	A=0.116
Allele Frequency Aggregator	Latin American 1	Sub	146	T=0.884	A=0.116
Allele Frequency Aggregator	Asian	Sub	112	T=0.902	A=0.098
Allele Frequency Aggregator	South Asian	Sub	98	T=0.84	A=0.16
8.3KJPN	JAPANESE	Study-wide	16760	T=0.88538	A=0.11462
1000Genomes_30x	Global	Study-wide	6404	T=0.8693	A=0.1307
1000Genomes_30x	African	Sub	1786	T=0.8617	A=0.1383
1000Genomes_30x	Europe	Sub	1266	T=0.9044	A=0.0956
1000Genomes_30x	South Asian	Sub	1202	T=0.8261	A=0.1739
1000Genomes_30x	East Asian	Sub	1170	T=0.8855	A=0.1145
1000Genomes_30x	American	Sub	980	T=0.871	A=0.129
1000Genomes	Global	Study-wide	5008	T=0.8704	A=0.1296
1000Genomes	African	Sub	1322	T=0.8676	A=0.1324
1000Genomes	East Asian	Sub	1008	T=0.8819	A=0.1181
1000Genomes	Europe	Sub	1006	T=0.9016	A=0.0984
1000Genomes	South Asian	Sub	978	T=0.827	A=0.173
1000Genomes	American	Sub	694	T=0.875	A=0.125
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.9348	A=0.0652
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.9136	A=0.0864
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.9145	A=0.0855
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.8423	A=0.1577
Korean Genome Project	KOREAN	Study-wide	1832	T=0.8592	A=0.1408
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.932	A=0.068
Northern Sweden	ACPOP	Study-wide	600	T=0.910	A=0.090
Qatari	Global	Study-wide	216	T=0.819	A=0.181
SGDP_PRJ	Global	Study-wide	166	T=0.446	A=0.554
The Danish reference pan genome	Danish	Study-wide	40	T=0.93	A=0.07
Siberian	Global	Study-wide	10	T=0.5	A=0.5

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.154565026T>A
GRCh37.p13 chr 1	NC_000001.10:g.154537502T>A
CHRNB2 RefSeqGene	NG_008027.1:g.2246T>A

Gene: LOC107985206, uncharacterized LOC107985206 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LOC107985206 transcript variant X1	XR_001738237.2:n.1316A>T	N/A	Non Coding Transcript Variant
LOC107985206 transcript variant X2	XR_001738238.3:n.1451A>T	N/A	Non Coding Transcript Variant

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement	T=	A
GRCh38.p14 chr 1	NC_000001.11:g.154565026=	NC_000001.11:g.154565026T>A
GRCh37.p13 chr 1	NC_000001.10:g.154537502=	NC_000001.10:g.154537502T>A
CHRNB2 RefSeqGene	NG_008027.1:g.2246=	NG_008027.1:g.2246T>A
LOC107985206 transcript variant X2	XR_001738238.3:n.1451=	XR_001738238.3:n.1451A>T
LOC107985206 transcript variant X2	XR_001738238.2:n.1454=	XR_001738238.2:n.1454A>T
LOC107985206 transcript variant X2	XR_001738238.1:n.1454=	XR_001738238.1:n.1454A>T
LOC107985206 transcript variant X1	XR_001738237.2:n.1316=	XR_001738237.2:n.1316A>T
LOC107985206 transcript variant X1	XR_001738237.1:n.1259=	XR_001738237.1:n.1259A>T

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#.

53 SubSNP, 18 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	BCMHGSC_JDW	ss87824655	Mar 23, 2008 (129)
2	ENSEMBL	ss138083307	Dec 01, 2009 (131)
3	BUSHMAN	ss199086263	Jul 04, 2010 (132)
4	1000GENOMES	ss210463392	Jul 14, 2010 (132)
5	1000GENOMES	ss210641629	Jul 14, 2010 (132)
6	1000GENOMES	ss218651220	Jul 14, 2010 (132)
7	1000GENOMES	ss230731909	Jul 14, 2010 (132)
8	1000GENOMES	ss238379823	Jul 15, 2010 (132)
9	GMI	ss276051202	May 04, 2012 (137)
10	TISHKOFF	ss554693703	Apr 25, 2013 (138)
11	SSMP	ss648413963	Apr 25, 2013 (138)
12	EVA-GONL	ss975682501	Aug 21, 2014 (142)
13	JMKIDD_LAB	ss1068269580	Aug 21, 2014 (142)
14	1000GENOMES	ss1292925234	Aug 21, 2014 (142)
15	DDI	ss1425978954	Apr 01, 2015 (144)
16	EVA_GENOME_DK	ss1574392051	Apr 01, 2015 (144)
17	EVA_DECODE	ss1585063909	Apr 01, 2015 (144)
18	EVA_UK10K_ALSPAC	ss1601213776	Apr 01, 2015 (144)
19	EVA_UK10K_TWINSUK	ss1644207809	Apr 01, 2015 (144)
20	WEILL_CORNELL_DGM	ss1918916418	Feb 12, 2016 (147)
21	JJLAB	ss2019973743	Sep 14, 2016 (149)
22	USC_VALOUEV	ss2147998255	Dec 20, 2016 (150)
23	HUMAN_LONGEVITY	ss2166540391	Dec 20, 2016 (150)
24	SYSTEMSBIOZJU	ss2624494898	Nov 08, 2017 (151)
25	GRF	ss2697971152	Nov 08, 2017 (151)
26	GNOMAD	ss2761314867	Nov 08, 2017 (151)
27	SWEGEN	ss2987751983	Nov 08, 2017 (151)
28	BIOINF_KMB_FNS_UNIBA	ss3023744041	Nov 08, 2017 (151)
29	CSHL	ss3343710513	Nov 08, 2017 (151)
30	EGCUT_WGS	ss3655692152	Jul 12, 2019 (153)
31	EVA_DECODE	ss3687782190	Jul 12, 2019 (153)
32	ACPOP	ss3727485665	Jul 12, 2019 (153)
33	EVA	ss3746807988	Jul 12, 2019 (153)
34	KHV_HUMAN_GENOMES	ss3799809758	Jul 12, 2019 (153)
35	EVA	ss3826424114	Apr 25, 2020 (154)
36	EVA	ss3836606638	Apr 25, 2020 (154)
37	EVA	ss3842015857	Apr 25, 2020 (154)
38	SGDP_PRJ	ss3850006483	Apr 25, 2020 (154)
39	KRGDB	ss3895212800	Apr 25, 2020 (154)
40	KOGIC	ss3945650977	Apr 25, 2020 (154)
41	TOPMED	ss4468298562	Apr 25, 2021 (155)
42	TOMMO_GENOMICS	ss5146482679	Apr 25, 2021 (155)
43	1000G_HIGH_COVERAGE	ss5244292766	Oct 17, 2022 (156)
44	EVA	ss5322049280	Oct 17, 2022 (156)
45	HUGCELL_USP	ss5444886237	Oct 17, 2022 (156)
46	1000G_HIGH_COVERAGE	ss5517620694	Oct 17, 2022 (156)
47	SANFORD_IMAGENETICS	ss5626591296	Oct 17, 2022 (156)
48	TOMMO_GENOMICS	ss5673678210	Oct 17, 2022 (156)
49	YY_MCH	ss5801260075	Oct 17, 2022 (156)
50	EVA	ss5832665452	Oct 17, 2022 (156)
51	EVA	ss5849108910	Oct 17, 2022 (156)
52	EVA	ss5910245332	Oct 17, 2022 (156)
53	EVA	ss5938385143	Oct 17, 2022 (156)
54	1000Genomes	NC_000001.10 - 154537502	Oct 11, 2018 (152)
55	1000Genomes_30x	NC_000001.11 - 154565026	Oct 17, 2022 (156)
56	The Avon Longitudinal Study of Parents and Children	NC_000001.10 - 154537502	Oct 11, 2018 (152)
57	Genetic variation in the Estonian population	NC_000001.10 - 154537502	Oct 11, 2018 (152)
58	The Danish reference pan genome	NC_000001.10 - 154537502	Apr 25, 2020 (154)
59	gnomAD - Genomes	NC_000001.11 - 154565026	Apr 25, 2021 (155)
60	Genome of the Netherlands Release 5	NC_000001.10 - 154537502	Apr 25, 2020 (154)
61	KOREAN population from KRGDB	NC_000001.10 - 154537502	Apr 25, 2020 (154)
62	Korean Genome Project	NC_000001.11 - 154565026	Apr 25, 2020 (154)
63	Northern Sweden	NC_000001.10 - 154537502	Jul 12, 2019 (153)
64	Qatari	NC_000001.10 - 154537502	Apr 25, 2020 (154)
65	SGDP_PRJ	NC_000001.10 - 154537502	Apr 25, 2020 (154)
66	Siberian	NC_000001.10 - 154537502	Apr 25, 2020 (154)
67	8.3KJPN	NC_000001.10 - 154537502	Apr 25, 2021 (155)
68	14KJPN	NC_000001.11 - 154565026	Oct 17, 2022 (156)
69	TopMed	NC_000001.11 - 154565026	Apr 25, 2021 (155)
70	UK 10K study - Twins	NC_000001.10 - 154537502	Oct 11, 2018 (152)
71	ALFA	NC_000001.11 - 154565026	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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss87824655, ss199086263, ss210463392, ss210641629, ss276051202, ss1585063909	NC_000001.9:152804125:T:A	NC_000001.11:154565025:T:A	(self)
3717276, 2020994, 1430400, 1708624, 878148, 2390194, 770530, 958348, 2023463, 514609, 4451986, 2020994, ss218651220, ss230731909, ss238379823, ss554693703, ss648413963, ss975682501, ss1068269580, ss1292925234, ss1425978954, ss1574392051, ss1601213776, ss1644207809, ss1918916418, ss2019973743, ss2147998255, ss2624494898, ss2697971152, ss2761314867, ss2987751983, ss3343710513, ss3655692152, ss3727485665, ss3746807988, ss3826424114, ss3836606638, ss3850006483, ss3895212800, ss5146482679, ss5322049280, ss5626591296, ss5832665452, ss5938385143	NC_000001.10:154537501:T:A	NC_000001.11:154565025:T:A	(self)
5146629, 27048335, 2028978, 7515314, 31904897, 10012358324, ss2166540391, ss3023744041, ss3687782190, ss3799809758, ss3842015857, ss3945650977, ss4468298562, ss5244292766, ss5444886237, ss5517620694, ss5673678210, ss5801260075, ss5849108910, ss5910245332	NC_000001.11:154565025:T:A	NC_000001.11:154565025:T:A	(self)
ss138083307	NT_004487.19:6026143:T:A	NC_000001.11:154565025:T:A	(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 rs61811370

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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs61811370