Name: rs10848451
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.

rs10848451

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr12:48563 (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: A=0.49809 (14075/28258, 14KJPN)
A=0.49845 (8354/16760, 8.3KJPN)
A=0.4961 (2818/5680, ALFA) (+ 9 more)
A=0.4960 (2484/5008, 1000G)
G=0.5000 (1465/2930, KOREAN)
A=0.5000 (1465/2930, KOREAN)
G=0.500 (277/554, SGDP_PRJ)
A=0.500 (277/554, SGDP_PRJ)
G=0.500 (108/216, Qatari)
A=0.500 (108/216, Qatari)
G=0.50 (27/54, Siberian)
A=0.50 (27/54, Siberian)

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	5680	G=0.5039	A=0.4961, C=0.0000
European	Sub	5130	G=0.5025	A=0.4975, C=0.0000
African	Sub	530	G=0.509	A=0.491, C=0.000
African Others	Sub	24	G=0.54	A=0.46, C=0.00
African American	Sub	506	G=0.508	A=0.492, C=0.000
Asian	Sub	2	G=1.0	A=0.0, C=0.0
East Asian	Sub	2	G=1.0	A=0.0, C=0.0
Other Asian	Sub	0	G=0	A=0, C=0
Latin American 1	Sub	2	G=1.0	A=0.0, C=0.0
Latin American 2	Sub	2	G=1.0	A=0.0, C=0.0
South Asian	Sub	0	G=0	A=0, C=0
Other	Sub	14	G=0.57	A=0.43, C=0.00

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
14KJPN	JAPANESE	Study-wide	28258	G=0.50191	A=0.49809
8.3KJPN	JAPANESE	Study-wide	16760	G=0.50155	A=0.49845
Allele Frequency Aggregator	Total	Global	5680	G=0.5039	A=0.4961, C=0.0000
Allele Frequency Aggregator	European	Sub	5130	G=0.5025	A=0.4975, C=0.0000
Allele Frequency Aggregator	African	Sub	530	G=0.509	A=0.491, C=0.000
Allele Frequency Aggregator	Other	Sub	14	G=0.57	A=0.43, C=0.00
Allele Frequency Aggregator	Latin American 1	Sub	2	G=1.0	A=0.0, C=0.0
Allele Frequency Aggregator	Latin American 2	Sub	2	G=1.0	A=0.0, C=0.0
Allele Frequency Aggregator	Asian	Sub	2	G=1.0	A=0.0, C=0.0
Allele Frequency Aggregator	South Asian	Sub	0	G=0	A=0, C=0
1000Genomes	Global	Study-wide	5008	G=0.5040	A=0.4960
1000Genomes	African	Sub	1322	G=0.5038	A=0.4962
1000Genomes	East Asian	Sub	1008	G=0.5099	A=0.4901
1000Genomes	Europe	Sub	1006	G=0.4970	A=0.5030
1000Genomes	South Asian	Sub	978	G=0.506	A=0.494
1000Genomes	American	Sub	694	G=0.503	A=0.497
KOREAN population from KRGDB	KOREAN	Study-wide	2930	G=0.5000	A=0.5000
SGDP_PRJ	Global	Study-wide	554	G=0.500	A=0.500
Qatari	Global	Study-wide	216	G=0.500	A=0.500
Siberian	Global	Study-wide	54	G=0.50	A=0.50

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.48563G>A
GRCh38.p14 chr 12	NC_000012.12:g.48563G>C
GRCh37.p13 chr 12	NC_000012.11:g.157729G>A
GRCh37.p13 chr 12	NC_000012.11:g.157729G>C
GRCh38.p14 chr 12 alt locus HSCHR12_1_CTG1	NW_003571049.1:g.36212A>G
GRCh38.p14 chr 12 alt locus HSCHR12_1_CTG1	NW_003571049.1:g.36212A>C
GRCh37.p13 chr 12 fix patch HG858_PATCH	NW_003571048.1:g.38563G>A
GRCh37.p13 chr 12 fix patch HG858_PATCH	NW_003571048.1:g.38563G>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 12	NC_000012.12:g.48563=	NC_000012.12:g.48563G>A	NC_000012.12:g.48563G>C
GRCh37.p13 chr 12	NC_000012.11:g.157729=	NC_000012.11:g.157729G>A	NC_000012.11:g.157729G>C
GRCh38.p14 chr 12 alt locus HSCHR12_1_CTG1	NW_003571049.1:g.36212A>G	NW_003571049.1:g.36212=	NW_003571049.1:g.36212A>C
GRCh37.p13 chr 12 fix patch HG858_PATCH	NW_003571048.1:g.38563=	NW_003571048.1:g.38563G>A	NW_003571048.1:g.38563G>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#.

34 SubSNP, 8 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	CSHL-HAPMAP	ss17463434	Feb 27, 2004 (120)
2	SC_SNP	ss18360175	Feb 27, 2004 (120)
3	CSHL-HAPMAP	ss19241803	Feb 27, 2004 (120)
4	HGSV	ss85144779	Dec 15, 2007 (129)
5	ILLUMINA-UK	ss118502188	Feb 14, 2009 (130)
6	ENSEMBL	ss137490824	Dec 01, 2009 (131)
7	GMI	ss156995352	Dec 01, 2009 (131)
8	BL	ss254803732	May 09, 2011 (134)
9	GMI	ss281238696	May 04, 2012 (137)
10	GMI	ss286488847	Apr 25, 2013 (138)
11	SSMP	ss658464413	Apr 25, 2013 (138)
12	1000GENOMES	ss1343671532	Aug 21, 2014 (142)
13	DDI	ss1426815478	Apr 09, 2015 (144)
14	WEILL_CORNELL_DGM	ss1932508716	Feb 17, 2016 (147)
15	USC_VALOUEV	ss2155319508	Oct 12, 2018 (152)
16	GRF	ss2699636965	Oct 12, 2018 (152)
17	GNOMAD	ss2906410440	Oct 12, 2018 (152)
18	SWEGEN	ss3009063130	Oct 12, 2018 (152)
19	BIOINF_KMB_FNS_UNIBA	ss3027303567	Nov 08, 2017 (151)
20	CSHL	ss3349879105	Oct 12, 2018 (152)
21	URBANLAB	ss3649743715	Oct 12, 2018 (152)
22	PACBIO	ss3787115639	Jul 13, 2019 (153)
23	PACBIO	ss3792233043	Jul 13, 2019 (153)
24	PACBIO	ss3797115792	Jul 13, 2019 (153)
25	KHV_HUMAN_GENOMES	ss3815354173	Jul 13, 2019 (153)
26	SGDP_PRJ	ss3877506567	Apr 26, 2020 (154)
27	KRGDB	ss3925995818	Apr 26, 2020 (154)
28	VINODS	ss4030258562	Apr 26, 2021 (155)
29	TOMMO_GENOMICS	ss5204677373	Apr 26, 2021 (155)
30	EVA	ss5403388385	Oct 16, 2022 (156)
31	SANFORD_IMAGENETICS	ss5652420793	Oct 16, 2022 (156)
32	TOMMO_GENOMICS	ss5753352676	Oct 16, 2022 (156)
33	YY_MCH	ss5812929124	Oct 16, 2022 (156)
34	EVA	ss5837469707	Oct 16, 2022 (156)
35	1000Genomes	NC_000012.11 - 157729	Oct 12, 2018 (152)
36	KOREAN population from KRGDB	NC_000012.11 - 157729	Apr 26, 2020 (154)
37	Qatari	NC_000012.11 - 157729	Apr 26, 2020 (154)
38	SGDP_PRJ	NC_000012.11 - 157729	Apr 26, 2020 (154)
39	Siberian	NC_000012.11 - 157729	Apr 26, 2020 (154)
40	8.3KJPN	NC_000012.11 - 157729	Apr 26, 2021 (155)
41	14KJPN	NC_000012.12 - 48563	Oct 16, 2022 (156)
42	ALFA	NC_000012.12 - 48563	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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss85144779	NC_000012.9:27989:G:A	NC_000012.12:48562:G:A	(self)
ss118502188, ss254803732, ss281238696, ss286488847	NC_000012.10:27989:G:A	NC_000012.12:48562:G:A	(self)
56277989, 33173212, 14550646, 29523547, 7835862, 62646680, ss658464413, ss1343671532, ss1426815478, ss1932508716, ss2155319508, ss2699636965, ss2906410440, ss3009063130, ss3349879105, ss3787115639, ss3792233043, ss3797115792, ss3877506567, ss3925995818, ss5204677373, ss5403388385, ss5652420793, ss5837469707	NC_000012.11:157728:G:A	NC_000012.12:48562:G:A	(self)
87189780, 13284683837, ss3027303567, ss3649743715, ss3815354173, ss5753352676, ss5812929124	NC_000012.12:48562:G:A	NC_000012.12:48562:G:A	(self)
ss17463434, ss18360175, ss19241803	NT_009759.15:11989:G:A	NC_000012.12:48562:G:A	(self)
ss137490824, ss156995352	NT_009759.16:97728:G:A	NC_000012.12:48562:G:A	(self)
ss4030258562	NW_003571049.1:36211:A:A	NC_000012.12:48562:G:A	(self)
13284683837	NC_000012.12:48562:G:C	NC_000012.12:48562: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 rs10848451

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

rs10848451