Name: rs12481150
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.

rs12481150

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr20:37526060 (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
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.299386 (93097/310960, ALFA)
A=0.260917 (69062/264690, TOPMED)
A=0.253101 (35428/139976, GnomAD) (+ 21 more)
A=0.27141 (21357/78690, PAGE_STUDY)
A=0.44412 (12550/28258, 14KJPN)
A=0.44362 (7435/16760, 8.3KJPN)
A=0.3204 (2052/6404, 1000G_30x)
A=0.3269 (1637/5008, 1000G)
A=0.2777 (1244/4480, Estonian)
A=0.2870 (1106/3854, ALSPAC)
A=0.3002 (1113/3708, TWINSUK)
A=0.4038 (1183/2930, KOREAN)
A=0.3680 (767/2084, HGDP_Stanford)
A=0.2875 (544/1892, HapMap)
A=0.3908 (716/1832, Korea1K)
A=0.313 (312/998, GoNL)
A=0.456 (361/792, PRJEB37584)
A=0.263 (158/600, NorthernSweden)
C=0.345 (111/322, SGDP_PRJ)
A=0.370 (80/216, Qatari)
A=0.341 (73/214, Vietnamese)
A=0.38 (26/68, Ancient Sardinia)
A=0.15 (6/40, GENOME_DK)
C=0.42 (16/38, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: BLCAP : Intron 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	316086	C=0.701319	A=0.298681
European	Sub	279510	C=0.704644	A=0.295356
African	Sub	9096	C=0.8831	A=0.1169
African Others	Sub	372	C=0.898	A=0.102
African American	Sub	8724	C=0.8825	A=0.1175
Asian	Sub	3932	C=0.6119	A=0.3881
East Asian	Sub	3186	C=0.6008	A=0.3992
Other Asian	Sub	746	C=0.660	A=0.340
Latin American 1	Sub	1132	C=0.7155	A=0.2845
Latin American 2	Sub	7208	C=0.5413	A=0.4587
South Asian	Sub	5224	C=0.5325	A=0.4675
Other	Sub	9984	C=0.6800	A=0.3200

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	310960	C=0.700614	A=0.299386
Allele Frequency Aggregator	European	Sub	276344	C=0.704618	A=0.295382
Allele Frequency Aggregator	Other	Sub	9166	C=0.6794	A=0.3206
Allele Frequency Aggregator	African	Sub	7954	C=0.8824	A=0.1176
Allele Frequency Aggregator	Latin American 2	Sub	7208	C=0.5413	A=0.4587
Allele Frequency Aggregator	South Asian	Sub	5224	C=0.5325	A=0.4675
Allele Frequency Aggregator	Asian	Sub	3932	C=0.6119	A=0.3881
Allele Frequency Aggregator	Latin American 1	Sub	1132	C=0.7155	A=0.2845
TopMed	Global	Study-wide	264690	C=0.739083	A=0.260917
gnomAD - Genomes	Global	Study-wide	139976	C=0.746899	A=0.253101
gnomAD - Genomes	European	Sub	75806	C=0.70047	A=0.29953
gnomAD - Genomes	African	Sub	41968	C=0.88439	A=0.11561
gnomAD - Genomes	American	Sub	13628	C=0.61697	A=0.38303
gnomAD - Genomes	Ashkenazi Jewish	Sub	3318	C=0.7752	A=0.2248
gnomAD - Genomes	East Asian	Sub	3108	C=0.5824	A=0.4176
gnomAD - Genomes	Other	Sub	2148	C=0.7179	A=0.2821
The PAGE Study	Global	Study-wide	78690	C=0.72859	A=0.27141
The PAGE Study	AfricanAmerican	Sub	32510	C=0.87736	A=0.12264
The PAGE Study	Mexican	Sub	10810	C=0.56781	A=0.43219
The PAGE Study	Asian	Sub	8316	C=0.5737	A=0.4263
The PAGE Study	PuertoRican	Sub	7916	C=0.7053	A=0.2947
The PAGE Study	NativeHawaiian	Sub	4534	C=0.5320	A=0.4680
The PAGE Study	Cuban	Sub	4230	C=0.7262	A=0.2738
The PAGE Study	Dominican	Sub	3828	C=0.7772	A=0.2228
The PAGE Study	CentralAmerican	Sub	2450	C=0.6020	A=0.3980
The PAGE Study	SouthAmerican	Sub	1982	C=0.5515	A=0.4485
The PAGE Study	NativeAmerican	Sub	1260	C=0.6754	A=0.3246
The PAGE Study	SouthAsian	Sub	854	C=0.515	A=0.485
14KJPN	JAPANESE	Study-wide	28258	C=0.55588	A=0.44412
8.3KJPN	JAPANESE	Study-wide	16760	C=0.55638	A=0.44362
1000Genomes_30x	Global	Study-wide	6404	C=0.6796	A=0.3204
1000Genomes_30x	African	Sub	1786	C=0.9121	A=0.0879
1000Genomes_30x	Europe	Sub	1266	C=0.6872	A=0.3128
1000Genomes_30x	South Asian	Sub	1202	C=0.4850	A=0.5150
1000Genomes_30x	East Asian	Sub	1170	C=0.5974	A=0.4026
1000Genomes_30x	American	Sub	980	C=0.583	A=0.417
1000Genomes	Global	Study-wide	5008	C=0.6731	A=0.3269
1000Genomes	African	Sub	1322	C=0.9062	A=0.0938
1000Genomes	East Asian	Sub	1008	C=0.5992	A=0.4008
1000Genomes	Europe	Sub	1006	C=0.6928	A=0.3072
1000Genomes	South Asian	Sub	978	C=0.480	A=0.520
1000Genomes	American	Sub	694	C=0.581	A=0.419
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.7223	A=0.2777
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.7130	A=0.2870
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.6998	A=0.3002
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.5962	A=0.4038
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	C=0.6320	A=0.3680
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	C=0.532	A=0.468
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	C=0.623	A=0.377
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	C=0.600	A=0.400
HGDP-CEPH-db Supplement 1	Europe	Sub	320	C=0.697	A=0.303
HGDP-CEPH-db Supplement 1	Africa	Sub	242	C=0.934	A=0.066
HGDP-CEPH-db Supplement 1	America	Sub	216	C=0.458	A=0.542
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	C=0.71	A=0.29
HapMap	Global	Study-wide	1892	C=0.7125	A=0.2875
HapMap	American	Sub	770	C=0.636	A=0.364
HapMap	African	Sub	692	C=0.857	A=0.143
HapMap	Asian	Sub	254	C=0.559	A=0.441
HapMap	Europe	Sub	176	C=0.699	A=0.301
Korean Genome Project	KOREAN	Study-wide	1832	C=0.6092	A=0.3908
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.687	A=0.313
CNV burdens in cranial meningiomas	Global	Study-wide	792	C=0.544	A=0.456
CNV burdens in cranial meningiomas	CRM	Sub	792	C=0.544	A=0.456
Northern Sweden	ACPOP	Study-wide	600	C=0.737	A=0.263
SGDP_PRJ	Global	Study-wide	322	C=0.345	A=0.655
Qatari	Global	Study-wide	216	C=0.630	A=0.370
A Vietnamese Genetic Variation Database	Global	Study-wide	214	C=0.659	A=0.341
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	68	C=0.62	A=0.38
The Danish reference pan genome	Danish	Study-wide	40	C=0.85	A=0.15
Siberian	Global	Study-wide	38	C=0.42	A=0.58

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 20	NC_000020.11:g.37526060C>A
GRCh37.p13 chr 20	NC_000020.10:g.36154462C>A

Gene: BLCAP, BLCAP apoptosis inducing factor (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
BLCAP transcript variant 6	NM_001167820.2:c.-310+173… NM_001167820.2:c.-310+1733G>T	N/A	Intron Variant
BLCAP transcript variant 3	NM_001167821.2:c.-177+157… NM_001167821.2:c.-177+1571G>T	N/A	Intron Variant
BLCAP transcript variant 4	NM_001167822.3:c.-177+151… NM_001167822.3:c.-177+1514G>T	N/A	Intron Variant
BLCAP transcript variant 1	NM_006698.4:c.-177+1733G>T	N/A	Intron Variant
BLCAP transcript variant 5	NM_001167823.2:c.	N/A	Genic Upstream Transcript Variant
BLCAP transcript variant 2	NM_001317074.2:c.	N/A	Genic Upstream Transcript Variant
BLCAP transcript variant 7	NM_001317075.2:c.	N/A	Genic Upstream 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	C=	A
GRCh38.p14 chr 20	NC_000020.11:g.37526060=	NC_000020.11:g.37526060C>A
GRCh37.p13 chr 20	NC_000020.10:g.36154462=	NC_000020.10:g.36154462C>A
BLCAP transcript variant 6	NM_001167820.1:c.-310+1733=	NM_001167820.1:c.-310+1733G>T
BLCAP transcript variant 6	NM_001167820.2:c.-310+1733=	NM_001167820.2:c.-310+1733G>T
BLCAP transcript variant 3	NM_001167821.1:c.-177+1571=	NM_001167821.1:c.-177+1571G>T
BLCAP transcript variant 3	NM_001167821.2:c.-177+1571=	NM_001167821.2:c.-177+1571G>T
BLCAP transcript variant 4	NM_001167822.1:c.-177+1514=	NM_001167822.1:c.-177+1514G>T
BLCAP transcript variant 4	NM_001167822.3:c.-177+1514=	NM_001167822.3:c.-177+1514G>T
BLCAP transcript variant 1	NM_006698.3:c.-177+1733=	NM_006698.3:c.-177+1733G>T
BLCAP transcript variant 1	NM_006698.4:c.-177+1733=	NM_006698.4:c.-177+1733G>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#.

135 SubSNP, 24 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	CSHL-HAPMAP	ss19479593	Feb 28, 2004 (120)
2	SSAHASNP	ss21755528	Apr 05, 2004 (121)
3	PERLEGEN	ss24206955	Sep 20, 2004 (123)
4	ABI	ss41419189	Mar 14, 2006 (126)
5	ILLUMINA	ss66552007	Nov 29, 2006 (127)
6	ILLUMINA	ss67011457	Nov 29, 2006 (127)
7	ILLUMINA	ss67331357	Nov 29, 2006 (127)
8	ILLUMINA	ss70410452	May 16, 2007 (127)
9	ILLUMINA	ss70570521	May 23, 2008 (130)
10	ILLUMINA	ss71111137	May 16, 2007 (127)
11	ILLUMINA	ss75599464	Dec 07, 2007 (129)
12	KRIBB_YJKIM	ss85228199	Dec 14, 2007 (130)
13	BCMHGSC_JDW	ss91691529	Mar 24, 2008 (129)
14	HUMANGENOME_JCVI	ss96227214	Feb 04, 2009 (130)
15	BGI	ss103750919	Dec 01, 2009 (131)
16	ILLUMINA	ss121568820	Dec 01, 2009 (131)
17	ENSEMBL	ss138240101	Dec 01, 2009 (131)
18	ENSEMBL	ss143938210	Dec 01, 2009 (131)
19	ILLUMINA	ss153209273	Dec 01, 2009 (131)
20	GMI	ss156403295	Dec 01, 2009 (131)
21	ILLUMINA	ss159219570	Dec 01, 2009 (131)
22	ILLUMINA	ss160275209	Dec 01, 2009 (131)
23	ILLUMINA	ss170137522	Jul 04, 2010 (132)
24	COMPLETE_GENOMICS	ss172064680	Jul 04, 2010 (132)
25	ILLUMINA	ss172112439	Jul 04, 2010 (132)
26	BCM-HGSC-SUB	ss208628182	Jul 04, 2010 (132)
27	1000GENOMES	ss228341844	Jul 14, 2010 (132)
28	1000GENOMES	ss237824260	Jul 15, 2010 (132)
29	1000GENOMES	ss243996630	Jul 15, 2010 (132)
30	GMI	ss283373645	May 04, 2012 (137)
31	GMI	ss287454474	Apr 25, 2013 (138)
32	PJP	ss292647660	May 09, 2011 (134)
33	ILLUMINA	ss479751575	May 04, 2012 (137)
34	ILLUMINA	ss479757451	May 04, 2012 (137)
35	ILLUMINA	ss480317501	Sep 08, 2015 (146)
36	ILLUMINA	ss484674110	May 04, 2012 (137)
37	ILLUMINA	ss536786229	Sep 08, 2015 (146)
38	TISHKOFF	ss566236076	Apr 25, 2013 (138)
39	SSMP	ss662117736	Apr 25, 2013 (138)
40	ILLUMINA	ss778408273	Sep 08, 2015 (146)
41	ILLUMINA	ss782783893	Sep 08, 2015 (146)
42	ILLUMINA	ss783749762	Sep 08, 2015 (146)
43	ILLUMINA	ss825379726	Jul 19, 2016 (147)
44	ILLUMINA	ss832036503	Sep 08, 2015 (146)
45	ILLUMINA	ss832731953	Jul 13, 2019 (153)
46	ILLUMINA	ss833863521	Sep 08, 2015 (146)
47	EVA-GONL	ss994703686	Aug 21, 2014 (142)
48	JMKIDD_LAB	ss1082190779	Aug 21, 2014 (142)
49	1000GENOMES	ss1364709602	Aug 21, 2014 (142)
50	DDI	ss1429049390	Apr 01, 2015 (144)
51	EVA_GENOME_DK	ss1579499195	Apr 01, 2015 (144)
52	EVA_UK10K_ALSPAC	ss1638744695	Apr 01, 2015 (144)
53	EVA_UK10K_TWINSUK	ss1681738728	Apr 01, 2015 (144)
54	EVA_SVP	ss1713692182	Apr 01, 2015 (144)
55	ILLUMINA	ss1752384831	Sep 08, 2015 (146)
56	HAMMER_LAB	ss1809494002	Sep 08, 2015 (146)
57	WEILL_CORNELL_DGM	ss1938217725	Feb 12, 2016 (147)
58	ILLUMINA	ss1946551610	Feb 12, 2016 (147)
59	ILLUMINA	ss1959914011	Feb 12, 2016 (147)
60	GENOMED	ss1969128757	Jul 19, 2016 (147)
61	JJLAB	ss2029889336	Sep 14, 2016 (149)
62	USC_VALOUEV	ss2158455309	Dec 20, 2016 (150)
63	HUMAN_LONGEVITY	ss2242627541	Dec 20, 2016 (150)
64	SYSTEMSBIOZJU	ss2629437695	Nov 08, 2017 (151)
65	ILLUMINA	ss2633795417	Nov 08, 2017 (151)
66	ILLUMINA	ss2635105637	Nov 08, 2017 (151)
67	GRF	ss2704145842	Nov 08, 2017 (151)
68	ILLUMINA	ss2710938908	Nov 08, 2017 (151)
69	GNOMAD	ss2967258541	Nov 08, 2017 (151)
70	AFFY	ss2985214612	Nov 08, 2017 (151)
71	AFFY	ss2985834168	Nov 08, 2017 (151)
72	SWEGEN	ss3018160752	Nov 08, 2017 (151)
73	ILLUMINA	ss3022117739	Nov 08, 2017 (151)
74	BIOINF_KMB_FNS_UNIBA	ss3028777222	Nov 08, 2017 (151)
75	CSHL	ss3352504220	Nov 08, 2017 (151)
76	ILLUMINA	ss3625787301	Oct 12, 2018 (152)
77	ILLUMINA	ss3628386987	Oct 12, 2018 (152)
78	ILLUMINA	ss3631752124	Oct 12, 2018 (152)
79	ILLUMINA	ss3633250189	Oct 12, 2018 (152)
80	ILLUMINA	ss3633964258	Oct 12, 2018 (152)
81	ILLUMINA	ss3634834703	Oct 12, 2018 (152)
82	ILLUMINA	ss3635649351	Oct 12, 2018 (152)
83	ILLUMINA	ss3636528352	Oct 12, 2018 (152)
84	ILLUMINA	ss3637401437	Oct 12, 2018 (152)
85	ILLUMINA	ss3638344732	Oct 12, 2018 (152)
86	ILLUMINA	ss3639175684	Oct 12, 2018 (152)
87	ILLUMINA	ss3639602169	Oct 12, 2018 (152)
88	ILLUMINA	ss3640542001	Oct 12, 2018 (152)
89	ILLUMINA	ss3641423748	Oct 12, 2018 (152)
90	ILLUMINA	ss3643307622	Oct 12, 2018 (152)
91	ILLUMINA	ss3644781993	Oct 12, 2018 (152)
92	URBANLAB	ss3651017364	Oct 12, 2018 (152)
93	ILLUMINA	ss3652572837	Oct 12, 2018 (152)
94	ILLUMINA	ss3653983446	Oct 12, 2018 (152)
95	EGCUT_WGS	ss3684840432	Jul 13, 2019 (153)
96	EVA_DECODE	ss3706915789	Jul 13, 2019 (153)
97	ILLUMINA	ss3725913940	Jul 13, 2019 (153)
98	ACPOP	ss3743380161	Jul 13, 2019 (153)
99	ILLUMINA	ss3744197341	Jul 13, 2019 (153)
100	ILLUMINA	ss3745134604	Jul 13, 2019 (153)
101	EVA	ss3758621342	Jul 13, 2019 (153)
102	PAGE_CC	ss3772046991	Jul 13, 2019 (153)
103	ILLUMINA	ss3772630798	Jul 13, 2019 (153)
104	KHV_HUMAN_GENOMES	ss3821787438	Jul 13, 2019 (153)
105	EVA	ss3835664455	Apr 27, 2020 (154)
106	EVA	ss3841457651	Apr 27, 2020 (154)
107	EVA	ss3846970296	Apr 27, 2020 (154)
108	HGDP	ss3847666390	Apr 27, 2020 (154)
109	SGDP_PRJ	ss3889070697	Apr 27, 2020 (154)
110	KRGDB	ss3939355803	Apr 27, 2020 (154)
111	KOGIC	ss3982252386	Apr 27, 2020 (154)
112	EVA	ss3984749585	Apr 27, 2021 (155)
113	EVA	ss3985877672	Apr 27, 2021 (155)
114	EVA	ss4017846896	Apr 27, 2021 (155)
115	TOPMED	ss5088091186	Apr 27, 2021 (155)
116	TOMMO_GENOMICS	ss5229584191	Apr 27, 2021 (155)
117	EVA	ss5237605040	Apr 27, 2021 (155)
118	1000G_HIGH_COVERAGE	ss5308747658	Oct 16, 2022 (156)
119	EVA	ss5316005768	Oct 16, 2022 (156)
120	EVA	ss5437306007	Oct 16, 2022 (156)
121	HUGCELL_USP	ss5501028847	Oct 16, 2022 (156)
122	EVA	ss5512212003	Oct 16, 2022 (156)
123	1000G_HIGH_COVERAGE	ss5615181635	Oct 16, 2022 (156)
124	SANFORD_IMAGENETICS	ss5624484941	Oct 16, 2022 (156)
125	SANFORD_IMAGENETICS	ss5663183991	Oct 16, 2022 (156)
126	TOMMO_GENOMICS	ss5789367548	Oct 16, 2022 (156)
127	EVA	ss5800021129	Oct 16, 2022 (156)
128	YY_MCH	ss5818032439	Oct 16, 2022 (156)
129	EVA	ss5845673296	Oct 16, 2022 (156)
130	EVA	ss5847505345	Oct 16, 2022 (156)
131	EVA	ss5847920194	Oct 16, 2022 (156)
132	EVA	ss5853133585	Oct 16, 2022 (156)
133	EVA	ss5923363897	Oct 16, 2022 (156)
134	EVA	ss5958096176	Oct 16, 2022 (156)
135	EVA	ss5979615465	Oct 16, 2022 (156)
136	1000Genomes	NC_000020.10 - 36154462	Oct 12, 2018 (152)
137	1000Genomes_30x	NC_000020.11 - 37526060	Oct 16, 2022 (156)
138	The Avon Longitudinal Study of Parents and Children	NC_000020.10 - 36154462	Oct 12, 2018 (152)
139	Genetic variation in the Estonian population	NC_000020.10 - 36154462	Oct 12, 2018 (152)
140	The Danish reference pan genome	NC_000020.10 - 36154462	Apr 27, 2020 (154)
141	gnomAD - Genomes	NC_000020.11 - 37526060	Apr 27, 2021 (155)
142	Genome of the Netherlands Release 5	NC_000020.10 - 36154462	Apr 27, 2020 (154)
143	HGDP-CEPH-db Supplement 1	NC_000020.9 - 35587876	Apr 27, 2020 (154)
144	HapMap	NC_000020.11 - 37526060	Apr 27, 2020 (154)
145	KOREAN population from KRGDB	NC_000020.10 - 36154462	Apr 27, 2020 (154)
146	Korean Genome Project	NC_000020.11 - 37526060	Apr 27, 2020 (154)
147	Northern Sweden	NC_000020.10 - 36154462	Jul 13, 2019 (153)
148	The PAGE Study	NC_000020.11 - 37526060	Jul 13, 2019 (153)
149	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000020.10 - 36154462	Apr 27, 2021 (155)
150	CNV burdens in cranial meningiomas	NC_000020.10 - 36154462	Apr 27, 2021 (155)
151	Qatari	NC_000020.10 - 36154462	Apr 27, 2020 (154)
152	SGDP_PRJ	NC_000020.10 - 36154462	Apr 27, 2020 (154)
153	Siberian	NC_000020.10 - 36154462	Apr 27, 2020 (154)
154	8.3KJPN	NC_000020.10 - 36154462	Apr 27, 2021 (155)
155	14KJPN	NC_000020.11 - 37526060	Oct 16, 2022 (156)
156	TopMed	NC_000020.11 - 37526060	Apr 27, 2021 (155)
157	UK 10K study - Twins	NC_000020.10 - 36154462	Oct 12, 2018 (152)
158	A Vietnamese Genetic Variation Database	NC_000020.10 - 36154462	Jul 13, 2019 (153)
159	ALFA	NC_000020.11 - 37526060	Apr 27, 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)
rs17195228	Oct 07, 2004 (123)
rs57215281	May 23, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
344282, ss91691529, ss172064680, ss208628182, ss283373645, ss287454474, ss292647660, ss479751575, ss825379726, ss1713692182, ss2635105637, ss3639175684, ss3639602169, ss3643307622, ss3847666390	NC_000020.9:35587875:C:A	NC_000020.11:37526059:C:A	(self)
78170926, 43269297, 30578680, 5664134, 19276959, 46533197, 16665026, 1103599, 299155, 20259647, 41087677, 10971663, 87553498, 43269297, 9547202, ss228341844, ss237824260, ss243996630, ss479757451, ss480317501, ss484674110, ss536786229, ss566236076, ss662117736, ss778408273, ss782783893, ss783749762, ss832036503, ss832731953, ss833863521, ss994703686, ss1082190779, ss1364709602, ss1429049390, ss1579499195, ss1638744695, ss1681738728, ss1752384831, ss1809494002, ss1938217725, ss1946551610, ss1959914011, ss1969128757, ss2029889336, ss2158455309, ss2629437695, ss2633795417, ss2704145842, ss2710938908, ss2967258541, ss2985214612, ss2985834168, ss3018160752, ss3022117739, ss3352504220, ss3625787301, ss3628386987, ss3631752124, ss3633250189, ss3633964258, ss3634834703, ss3635649351, ss3636528352, ss3637401437, ss3638344732, ss3640542001, ss3641423748, ss3644781993, ss3652572837, ss3653983446, ss3684840432, ss3743380161, ss3744197341, ss3745134604, ss3758621342, ss3772630798, ss3835664455, ss3841457651, ss3889070697, ss3939355803, ss3984749585, ss3985877672, ss4017846896, ss5229584191, ss5237605040, ss5316005768, ss5437306007, ss5512212003, ss5624484941, ss5663183991, ss5800021129, ss5845673296, ss5847505345, ss5847920194, ss5958096176, ss5979615465	NC_000020.10:36154461:C:A	NC_000020.11:37526059:C:A	(self)
102707570, 551442796, 2115283, 38630387, 1268460, 123204652, 363200131, 11574985249, ss2242627541, ss3028777222, ss3651017364, ss3706915789, ss3725913940, ss3772046991, ss3821787438, ss3846970296, ss3982252386, ss5088091186, ss5308747658, ss5501028847, ss5615181635, ss5789367548, ss5818032439, ss5853133585, ss5923363897	NC_000020.11:37526059:C:A	NC_000020.11:37526059:C:A	(self)
ss19479593, ss21755528	NT_011362.8:1207376:C:A	NC_000020.11:37526059:C:A	(self)
ss24206955, ss41419189, ss66552007, ss67011457, ss67331357, ss70410452, ss70570521, ss71111137, ss75599464, ss85228199, ss96227214, ss103750919, ss121568820, ss138240101, ss143938210, ss153209273, ss156403295, ss159219570, ss160275209, ss170137522, ss172112439	NT_011362.10:6350553:C:A	NC_000020.11:37526059:C: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 rs12481150

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

rs12481150