Name: rs1848157
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.

rs1848157

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr11:48676322 (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
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.016034 (4244/264690, TOPMED)
G=0.015744 (2196/139478, GnomAD)
G=0.00000 (0/28256, 14KJPN) (+ 16 more)
G=0.00788 (146/18520, ALFA)
G=0.00000 (0/16758, 8.3KJPN)
G=0.0208 (133/6404, 1000G_30x)
G=0.0190 (95/5008, 1000G)
G=0.0003 (1/3854, ALSPAC)
G=0.0000 (0/3708, TWINSUK)
G=0.0000 (0/2930, KOREAN)
A=0.0000 (0/2930, KOREAN)
G=0.0000 (0/1832, Korea1K)
G=0.000 (0/600, NorthernSweden)
G=0.004 (2/558, SGDP_PRJ)
G=0.037 (12/328, HapMap)
G=0.005 (1/216, Qatari)
G=0.000 (0/214, Vietnamese)
G=0.00 (0/56, Siberian)
G=0.00 (0/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: None
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	18520	G=0.00788	C=0.99212
European	Sub	14152	G=0.00000	C=1.00000
African	Sub	2898	G=0.0480	C=0.9520
African Others	Sub	114	G=0.061	C=0.939
African American	Sub	2784	G=0.0474	C=0.9526
Asian	Sub	112	G=0.000	C=1.000
East Asian	Sub	86	G=0.00	C=1.00
Other Asian	Sub	26	G=0.00	C=1.00
Latin American 1	Sub	146	G=0.000	C=1.000
Latin American 2	Sub	610	G=0.002	C=0.998
South Asian	Sub	98	G=0.00	C=1.00
Other	Sub	504	G=0.012	C=0.988

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	G=0.016034	C=0.983966
gnomAD - Genomes	Global	Study-wide	139478	G=0.015744	C=0.984256
gnomAD - Genomes	European	Sub	75556	G=0.00007	C=0.99993
gnomAD - Genomes	African	Sub	41940	G=0.05074	C=0.94926
gnomAD - Genomes	American	Sub	13468	G=0.00267	C=0.99733
gnomAD - Genomes	Ashkenazi Jewish	Sub	3312	G=0.0000	C=1.0000
gnomAD - Genomes	East Asian	Sub	3062	G=0.0003	C=0.9997
gnomAD - Genomes	Other	Sub	2140	G=0.0121	C=0.9879
14KJPN	JAPANESE	Study-wide	28256	G=0.00000	C=1.00000
Allele Frequency Aggregator	Total	Global	18520	G=0.00788	C=0.99212
Allele Frequency Aggregator	European	Sub	14152	G=0.00000	C=1.00000
Allele Frequency Aggregator	African	Sub	2898	G=0.0480	C=0.9520
Allele Frequency Aggregator	Latin American 2	Sub	610	G=0.002	C=0.998
Allele Frequency Aggregator	Other	Sub	504	G=0.012	C=0.988
Allele Frequency Aggregator	Latin American 1	Sub	146	G=0.000	C=1.000
Allele Frequency Aggregator	Asian	Sub	112	G=0.000	C=1.000
Allele Frequency Aggregator	South Asian	Sub	98	G=0.00	C=1.00
8.3KJPN	JAPANESE	Study-wide	16758	G=0.00000	C=1.00000
1000Genomes_30x	Global	Study-wide	6404	G=0.0208	C=0.9792
1000Genomes_30x	African	Sub	1786	G=0.0739	C=0.9261
1000Genomes_30x	Europe	Sub	1266	G=0.0000	C=1.0000
1000Genomes_30x	South Asian	Sub	1202	G=0.0000	C=1.0000
1000Genomes_30x	East Asian	Sub	1170	G=0.0000	C=1.0000
1000Genomes_30x	American	Sub	980	G=0.001	C=0.999
1000Genomes	Global	Study-wide	5008	G=0.0190	C=0.9810
1000Genomes	African	Sub	1322	G=0.0711	C=0.9289
1000Genomes	East Asian	Sub	1008	G=0.0000	C=1.0000
1000Genomes	Europe	Sub	1006	G=0.0000	C=1.0000
1000Genomes	South Asian	Sub	978	G=0.000	C=1.000
1000Genomes	American	Sub	694	G=0.001	C=0.999
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.0003	C=0.9997
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.0000	C=1.0000
KOREAN population from KRGDB	KOREAN	Study-wide	2930	G=0.0000	A=0.0000, C=1.0000
Korean Genome Project	KOREAN	Study-wide	1832	G=0.0000	C=1.0000
Northern Sweden	ACPOP	Study-wide	600	G=0.000	C=1.000
SGDP_PRJ	Global	Study-wide	558	G=0.004	C=0.996
HapMap	Global	Study-wide	328	G=0.037	C=0.963
HapMap	African	Sub	120	G=0.100	C=0.900
HapMap	American	Sub	120	G=0.000	C=1.000
HapMap	Asian	Sub	88	G=0.00	C=1.00
Qatari	Global	Study-wide	216	G=0.005	C=0.995
A Vietnamese Genetic Variation Database	Global	Study-wide	214	G=0.000	C=1.000
Siberian	Global	Study-wide	56	G=0.00	C=1.00
The Danish reference pan genome	Danish	Study-wide	40	G=0.00	C=1.00

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 11	NC_000011.10:g.48676322G>A
GRCh38.p14 chr 11	NC_000011.10:g.48676322G>C
GRCh37.p13 chr 11	NC_000011.9:g.48697874G>A
GRCh37.p13 chr 11	NC_000011.9:g.48697874G>C

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	G=	A	C
GRCh38.p14 chr 11	NC_000011.10:g.48676322=	NC_000011.10:g.48676322G>A	NC_000011.10:g.48676322G>C
GRCh37.p13 chr 11	NC_000011.9:g.48697874=	NC_000011.9:g.48697874G>A	NC_000011.9:g.48697874G>C

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#.

67 SubSNP, 18 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	TSC-CSHL	ss2719845	Jan 12, 2001 (92)
2	WI_SSAHASNP	ss12582134	Aug 27, 2003 (126)
3	SC_SNP	ss15802502	Feb 28, 2004 (126)
4	CSHL-HAPMAP	ss17434503	Feb 27, 2004 (120)
5	CSHL-HAPMAP	ss19213145	Feb 27, 2004 (120)
6	SSAHASNP	ss20802902	Apr 05, 2004 (121)
7	HGSV	ss82375846	Dec 15, 2007 (130)
8	HGSV	ss84689267	Dec 15, 2007 (130)
9	BCMHGSC_JDW	ss88573967	Mar 24, 2008 (129)
10	HUMANGENOME_JCVI	ss97386043	Feb 05, 2009 (130)
11	BGI	ss106743495	Feb 05, 2009 (130)
12	ILLUMINA-UK	ss119837737	Dec 01, 2009 (131)
13	ENSEMBL	ss132502227	Dec 01, 2009 (131)
14	ENSEMBL	ss137709891	Dec 01, 2009 (131)
15	GMI	ss156272017	Dec 01, 2009 (131)
16	BUSHMAN	ss202695821	Jul 04, 2010 (132)
17	BCM-HGSC-SUB	ss207677339	Jul 04, 2010 (132)
18	1000GENOMES	ss235555375	Jul 15, 2010 (132)
19	BL	ss255119572	May 09, 2011 (134)
20	GMI	ss280995968	May 04, 2012 (137)
21	GMI	ss286371914	Apr 25, 2013 (138)
22	PJP	ss291041987	May 09, 2011 (134)
23	SSMP	ss658054997	Apr 25, 2013 (138)
24	JMKIDD_LAB	ss1077720448	Aug 21, 2014 (142)
25	1000GENOMES	ss1341208004	Aug 21, 2014 (142)
26	DDI	ss1426629231	Apr 01, 2015 (144)
27	EVA_GENOME_DK	ss1575699991	Apr 01, 2015 (144)
28	EVA_UK10K_ALSPAC	ss1626567956	Apr 01, 2015 (144)
29	EVA_UK10K_TWINSUK	ss1669561989	Apr 01, 2015 (144)
30	HAMMER_LAB	ss1806817188	Sep 08, 2015 (146)
31	WEILL_CORNELL_DGM	ss1931863336	Feb 12, 2016 (147)
32	GENOMED	ss1967363131	Jul 19, 2016 (147)
33	JJLAB	ss2026678091	Sep 14, 2016 (149)
34	USC_VALOUEV	ss2154972913	Dec 20, 2016 (150)
35	HUMAN_LONGEVITY	ss2182425520	Dec 20, 2016 (150)
36	GRF	ss2699257216	Nov 08, 2017 (151)
37	GNOMAD	ss2899412719	Nov 08, 2017 (151)
38	SWEGEN	ss3008046482	Nov 08, 2017 (151)
39	BIOINF_KMB_FNS_UNIBA	ss3027138421	Nov 08, 2017 (151)
40	CSHL	ss3349585566	Nov 08, 2017 (151)
41	URBANLAB	ss3649602260	Oct 12, 2018 (152)
42	EVA_DECODE	ss3691753803	Jul 13, 2019 (153)
43	ACPOP	ss3738165942	Jul 13, 2019 (153)
44	EVA	ss3749279138	Jul 13, 2019 (153)
45	PACBIO	ss3786950606	Jul 13, 2019 (153)
46	PACBIO	ss3792092938	Jul 13, 2019 (153)
47	PACBIO	ss3796975192	Jul 13, 2019 (153)
48	KHV_HUMAN_GENOMES	ss3814625501	Jul 13, 2019 (153)
49	EVA	ss3832621561	Apr 26, 2020 (154)
50	EVA	ss3839862603	Apr 26, 2020 (154)
51	EVA	ss3845340910	Apr 26, 2020 (154)
52	SGDP_PRJ	ss3876215540	Apr 26, 2020 (154)
53	KRGDB	ss3924500231	Apr 26, 2020 (154)
54	KOGIC	ss3969742176	Apr 26, 2020 (154)
55	TOPMED	ss4884739409	Apr 26, 2021 (155)
56	TOMMO_GENOMICS	ss5201900567	Apr 26, 2021 (155)
57	1000G_HIGH_COVERAGE	ss5287350379	Oct 16, 2022 (156)
58	EVA	ss5399477188	Oct 16, 2022 (156)
59	HUGCELL_USP	ss5482558218	Oct 16, 2022 (156)
60	1000G_HIGH_COVERAGE	ss5582979447	Oct 16, 2022 (156)
61	SANFORD_IMAGENETICS	ss5651186715	Oct 16, 2022 (156)
62	TOMMO_GENOMICS	ss5749003593	Oct 16, 2022 (156)
63	YY_MCH	ss5812368455	Oct 16, 2022 (156)
64	EVA	ss5836638132	Oct 16, 2022 (156)
65	EVA	ss5849976199	Oct 16, 2022 (156)
66	EVA	ss5919921338	Oct 16, 2022 (156)
67	EVA	ss5942507011	Oct 16, 2022 (156)
68	1000Genomes	NC_000011.9 - 48697874	Oct 12, 2018 (152)
69	1000Genomes_30x	NC_000011.10 - 48676322	Oct 16, 2022 (156)
70	The Avon Longitudinal Study of Parents and Children	NC_000011.9 - 48697874	Oct 12, 2018 (152)
71	The Danish reference pan genome	NC_000011.9 - 48697874	Apr 26, 2020 (154)
72	gnomAD - Genomes	NC_000011.10 - 48676322	Apr 26, 2021 (155)
73	HapMap	NC_000011.10 - 48676322	Apr 26, 2020 (154)
74	KOREAN population from KRGDB	NC_000011.9 - 48697874	Apr 26, 2020 (154)
75	Korean Genome Project	NC_000011.10 - 48676322	Apr 26, 2020 (154)
76	Northern Sweden	NC_000011.9 - 48697874	Jul 13, 2019 (153)
77	Qatari	NC_000011.9 - 48697874	Apr 26, 2020 (154)
78	SGDP_PRJ	NC_000011.9 - 48697874	Apr 26, 2020 (154)
79	Siberian	NC_000011.9 - 48697874	Apr 26, 2020 (154)
80	8.3KJPN	NC_000011.9 - 48697874	Apr 26, 2021 (155)
81	14KJPN	NC_000011.10 - 48676322	Oct 16, 2022 (156)
82	TopMed	NC_000011.10 - 48676322	Apr 26, 2021 (155)
83	UK 10K study - Twins	NC_000011.9 - 48697874	Oct 12, 2018 (152)
84	A Vietnamese Genetic Variation Database	NC_000011.9 - 48697874	Jul 13, 2019 (153)
85	ALFA	NC_000011.10 - 48676322	Apr 26, 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)
rs8189073	Mar 10, 2006 (126)
rs11512335	Mar 10, 2006 (126)
rs59409024	May 25, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
31677625, ss3924500231	NC_000011.9:48697873:G:A	NC_000011.10:48676321:G:A	(self)
ss82375846, ss84689267, ss88573967, ss119837737, ss202695821, ss207677339, ss255119572, ss280995968, ss286371914, ss291041987	NC_000011.8:48654449:G:C	NC_000011.10:48676321:G:C	(self)
53730437, 29851359, 2559968, 31677625, 11450807, 13905266, 28232520, 7489267, 59869874, 29851359, 6630694, ss235555375, ss658054997, ss1077720448, ss1341208004, ss1426629231, ss1575699991, ss1626567956, ss1669561989, ss1806817188, ss1931863336, ss1967363131, ss2026678091, ss2154972913, ss2699257216, ss2899412719, ss3008046482, ss3349585566, ss3738165942, ss3749279138, ss3786950606, ss3792092938, ss3796975192, ss3832621561, ss3839862603, ss3876215540, ss3924500231, ss5201900567, ss5399477188, ss5651186715, ss5836638132, ss5942507011	NC_000011.9:48697873:G:C	NC_000011.10:48676321:G:C	(self)
70505382, 379232597, 611777, 26120177, 82840697, 100285065, 7852719653, ss2182425520, ss3027138421, ss3649602260, ss3691753803, ss3814625501, ss3845340910, ss3969742176, ss4884739409, ss5287350379, ss5482558218, ss5582979447, ss5749003593, ss5812368455, ss5849976199, ss5919921338	NC_000011.10:48676321:G:C	NC_000011.10:48676321:G:C	(self)
ss15802502, ss17434503, ss19213145, ss20802902	NT_009237.16:47461813:G:C	NC_000011.10:48676321:G:C	(self)
ss2719845, ss12582134, ss97386043, ss106743495, ss132502227, ss137709891, ss156272017	NT_009237.18:48637873:G:C	NC_000011.10:48676321:G:C	(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 rs1848157

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

rs1848157