Name: rs12147012
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.

rs12147012

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr14:91652904 (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: A>G
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.422381 (111800/264690, TOPMED)
A=0.426885 (59711/139876, GnomAD)
A=0.41579 (28766/69184, ALFA) (+ 18 more)
A=0.15985 (4517/28258, 14KJPN)
A=0.16229 (2720/16760, 8.3KJPN)
A=0.3766 (2412/6404, 1000G_30x)
A=0.3720 (1863/5008, 1000G)
A=0.3975 (1781/4480, Estonian)
A=0.4214 (1624/3854, ALSPAC)
A=0.4296 (1593/3708, TWINSUK)
A=0.1901 (557/2930, KOREAN)
A=0.3021 (629/2082, HGDP_Stanford)
A=0.3926 (742/1890, HapMap)
A=0.445 (444/998, GoNL)
A=0.410 (246/600, NorthernSweden)
A=0.224 (111/496, SGDP_PRJ)
A=0.352 (76/216, Qatari)
A=0.341 (73/214, Vietnamese)
A=0.22 (10/46, Ancient Sardinia)
A=0.17 (8/46, Siberian)
G=0.47 (19/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: CATSPERB : 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	69184	A=0.41579	G=0.58421
European	Sub	56600	A=0.41629	G=0.58371
African	Sub	4526	A=0.5395	G=0.4605
African Others	Sub	170	A=0.565	G=0.435
African American	Sub	4356	A=0.5386	G=0.4614
Asian	Sub	188	A=0.340	G=0.660
East Asian	Sub	146	A=0.301	G=0.699
Other Asian	Sub	42	A=0.48	G=0.52
Latin American 1	Sub	254	A=0.406	G=0.594
Latin American 2	Sub	1232	A=0.2711	G=0.7289
South Asian	Sub	4952	A=0.3415	G=0.6585
Other	Sub	1432	A=0.3980	G=0.6020

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	A=0.422381	G=0.577619
gnomAD - Genomes	Global	Study-wide	139876	A=0.426885	G=0.573115
gnomAD - Genomes	European	Sub	75778	A=0.40396	G=0.59604
gnomAD - Genomes	African	Sub	41876	A=0.52725	G=0.47275
gnomAD - Genomes	American	Sub	13622	A=0.30216	G=0.69784
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	A=0.3902	G=0.6098
gnomAD - Genomes	East Asian	Sub	3128	A=0.2327	G=0.7673
gnomAD - Genomes	Other	Sub	2148	A=0.4097	G=0.5903
Allele Frequency Aggregator	Total	Global	69184	A=0.41579	G=0.58421
Allele Frequency Aggregator	European	Sub	56600	A=0.41629	G=0.58371
Allele Frequency Aggregator	South Asian	Sub	4952	A=0.3415	G=0.6585
Allele Frequency Aggregator	African	Sub	4526	A=0.5395	G=0.4605
Allele Frequency Aggregator	Other	Sub	1432	A=0.3980	G=0.6020
Allele Frequency Aggregator	Latin American 2	Sub	1232	A=0.2711	G=0.7289
Allele Frequency Aggregator	Latin American 1	Sub	254	A=0.406	G=0.594
Allele Frequency Aggregator	Asian	Sub	188	A=0.340	G=0.660
14KJPN	JAPANESE	Study-wide	28258	A=0.15985	G=0.84015
8.3KJPN	JAPANESE	Study-wide	16760	A=0.16229	G=0.83771
1000Genomes_30x	Global	Study-wide	6404	A=0.3766	G=0.6234
1000Genomes_30x	African	Sub	1786	A=0.5134	G=0.4866
1000Genomes_30x	Europe	Sub	1266	A=0.4013	G=0.5987
1000Genomes_30x	South Asian	Sub	1202	A=0.3436	G=0.6564
1000Genomes_30x	East Asian	Sub	1170	A=0.2598	G=0.7402
1000Genomes_30x	American	Sub	980	A=0.276	G=0.724
1000Genomes	Global	Study-wide	5008	A=0.3720	G=0.6280
1000Genomes	African	Sub	1322	A=0.5159	G=0.4841
1000Genomes	East Asian	Sub	1008	A=0.2530	G=0.7470
1000Genomes	Europe	Sub	1006	A=0.3976	G=0.6024
1000Genomes	South Asian	Sub	978	A=0.343	G=0.657
1000Genomes	American	Sub	694	A=0.275	G=0.725
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.3975	G=0.6025
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.4214	G=0.5786
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.4296	G=0.5704
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.1901	G=0.8099
HGDP-CEPH-db Supplement 1	Global	Study-wide	2082	A=0.3021	G=0.6979
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	A=0.234	G=0.766
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	A=0.251	G=0.749
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	A=0.423	G=0.577
HGDP-CEPH-db Supplement 1	Europe	Sub	320	A=0.356	G=0.644
HGDP-CEPH-db Supplement 1	Africa	Sub	242	A=0.504	G=0.496
HGDP-CEPH-db Supplement 1	America	Sub	214	A=0.070	G=0.930
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	A=0.22	G=0.78
HapMap	Global	Study-wide	1890	A=0.3926	G=0.6074
HapMap	American	Sub	770	A=0.377	G=0.623
HapMap	African	Sub	692	A=0.523	G=0.477
HapMap	Asian	Sub	252	A=0.171	G=0.829
HapMap	Europe	Sub	176	A=0.267	G=0.733
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.445	G=0.555
Northern Sweden	ACPOP	Study-wide	600	A=0.410	G=0.590
SGDP_PRJ	Global	Study-wide	496	A=0.224	G=0.776
Qatari	Global	Study-wide	216	A=0.352	G=0.648
A Vietnamese Genetic Variation Database	Global	Study-wide	214	A=0.341	G=0.659
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	46	A=0.22	G=0.78
Siberian	Global	Study-wide	46	A=0.17	G=0.83
The Danish reference pan genome	Danish	Study-wide	40	A=0.53	G=0.47

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 14	NC_000014.9:g.91652904A>G
GRCh38.p14 chr 14 alt locus HSCHR14_1_CTG1	NT_187598.1:g.120699A>G
GRCh37.p13 chr 14	NC_000014.8:g.92119248A>G

Gene: CATSPERB, cation channel sperm associated auxiliary subunit beta (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
CATSPERB transcript	NM_024764.4:c.1432+6933T>C	N/A	Intron 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	A=	G
GRCh38.p14 chr 14	NC_000014.9:g.91652904=	NC_000014.9:g.91652904A>G
GRCh38.p14 chr 14 alt locus HSCHR14_1_CTG1	NT_187598.1:g.120699=	NT_187598.1:g.120699A>G
GRCh37.p13 chr 14	NC_000014.8:g.92119248=	NC_000014.8:g.92119248A>G
CATSPERB transcript	NM_024764.2:c.1432+6933=	NM_024764.2:c.1432+6933T>C
CATSPERB transcript	NM_024764.4:c.1432+6933=	NM_024764.4:c.1432+6933T>C
CATSPERB transcript variant X1	XM_005268066.1:c.-2-13654=	XM_005268066.1:c.-2-13654T>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#.

94 SubSNP, 21 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_SNP	ss18302064	Feb 28, 2004 (120)
2	SSAHASNP	ss21159117	Apr 05, 2004 (121)
3	ABI	ss43592318	Mar 14, 2006 (126)
4	ILLUMINA	ss66985917	Nov 29, 2006 (127)
5	ILLUMINA	ss67159993	Nov 29, 2006 (127)
6	ILLUMINA	ss68122539	Dec 12, 2006 (127)
7	ILLUMINA	ss70557495	May 25, 2008 (130)
8	ILLUMINA	ss71095003	May 16, 2007 (127)
9	ILLUMINA	ss75852692	Dec 06, 2007 (129)
10	HGSV	ss78611813	Dec 06, 2007 (129)
11	KRIBB_YJKIM	ss85189771	Dec 15, 2007 (130)
12	HGSV	ss85753919	Dec 15, 2007 (130)
13	HUMANGENOME_JCVI	ss96878741	Feb 05, 2009 (130)
14	1000GENOMES	ss108558522	Jan 23, 2009 (130)
15	1000GENOMES	ss113705162	Jan 25, 2009 (130)
16	ILLUMINA-UK	ss118691841	Feb 14, 2009 (130)
17	ENSEMBL	ss136967585	Dec 01, 2009 (131)
18	ILLUMINA	ss153142145	Dec 01, 2009 (131)
19	GMI	ss156127113	Dec 01, 2009 (131)
20	ILLUMINA	ss159205794	Dec 01, 2009 (131)
21	COMPLETE_GENOMICS	ss168502712	Jul 04, 2010 (132)
22	COMPLETE_GENOMICS	ss170317140	Jul 04, 2010 (132)
23	COMPLETE_GENOMICS	ss171498046	Jul 04, 2010 (132)
24	ILLUMINA	ss171895105	Jul 04, 2010 (132)
25	BUSHMAN	ss200411591	Jul 04, 2010 (132)
26	1000GENOMES	ss226718434	Jul 14, 2010 (132)
27	1000GENOMES	ss236652075	Jul 15, 2010 (132)
28	1000GENOMES	ss243063988	Jul 15, 2010 (132)
29	BL	ss255197257	May 09, 2011 (134)
30	GMI	ss282110902	May 04, 2012 (137)
31	GMI	ss286891318	Apr 25, 2013 (138)
32	PJP	ss291652317	May 09, 2011 (134)
33	ILLUMINA	ss536758971	Sep 08, 2015 (146)
34	TISHKOFF	ss564268785	Apr 25, 2013 (138)
35	SSMP	ss659964416	Apr 25, 2013 (138)
36	ILLUMINA	ss832718229	Aug 21, 2014 (142)
37	ILLUMINA	ss833309059	Aug 21, 2014 (142)
38	EVA-GONL	ss991443829	Aug 21, 2014 (142)
39	JMKIDD_LAB	ss1079878971	Aug 21, 2014 (142)
40	1000GENOMES	ss1352127960	Aug 21, 2014 (142)
41	DDI	ss1427508645	Apr 01, 2015 (144)
42	EVA_GENOME_DK	ss1577427946	Apr 01, 2015 (144)
43	EVA_UK10K_ALSPAC	ss1632340637	Apr 01, 2015 (144)
44	EVA_UK10K_TWINSUK	ss1675334670	Apr 01, 2015 (144)
45	EVA_DECODE	ss1695457411	Apr 01, 2015 (144)
46	EVA_SVP	ss1713466078	Apr 01, 2015 (144)
47	HAMMER_LAB	ss1808043690	Sep 08, 2015 (146)
48	WEILL_CORNELL_DGM	ss1934813509	Feb 12, 2016 (147)
49	GENOMED	ss1968029008	Jul 19, 2016 (147)
50	JJLAB	ss2028190851	Sep 14, 2016 (149)
51	ILLUMINA	ss2095055850	Dec 20, 2016 (150)
52	USC_VALOUEV	ss2156573263	Dec 20, 2016 (150)
53	HUMAN_LONGEVITY	ss2204314133	Dec 20, 2016 (150)
54	SYSTEMSBIOZJU	ss2628584344	Nov 08, 2017 (151)
55	GRF	ss2701008790	Nov 08, 2017 (151)
56	GNOMAD	ss2930882510	Nov 08, 2017 (151)
57	SWEGEN	ss3012660130	Nov 08, 2017 (151)
58	BIOINF_KMB_FNS_UNIBA	ss3027922169	Nov 08, 2017 (151)
59	CSHL	ss3350937764	Nov 08, 2017 (151)
60	ILLUMINA	ss3627285025	Oct 12, 2018 (152)
61	ILLUMINA	ss3638066556	Oct 12, 2018 (152)
62	ILLUMINA	ss3639046949	Oct 12, 2018 (152)
63	ILLUMINA	ss3639832755	Oct 12, 2018 (152)
64	ILLUMINA	ss3643052131	Oct 12, 2018 (152)
65	ILLUMINA	ss3643883136	Oct 12, 2018 (152)
66	URBANLAB	ss3650263845	Oct 12, 2018 (152)
67	ILLUMINA	ss3651992011	Oct 12, 2018 (152)
68	EGCUT_WGS	ss3679924745	Jul 13, 2019 (153)
69	EVA_DECODE	ss3697238601	Jul 13, 2019 (153)
70	ACPOP	ss3740632591	Jul 13, 2019 (153)
71	EVA	ss3752671222	Jul 13, 2019 (153)
72	KHV_HUMAN_GENOMES	ss3817998313	Jul 13, 2019 (153)
73	EVA	ss3834064789	Apr 27, 2020 (154)
74	EVA	ss3840623517	Apr 27, 2020 (154)
75	EVA	ss3846113739	Apr 27, 2020 (154)
76	HGDP	ss3847513034	Apr 27, 2020 (154)
77	SGDP_PRJ	ss3882097037	Apr 27, 2020 (154)
78	KRGDB	ss3931176334	Apr 27, 2020 (154)
79	EVA	ss3985697179	Apr 26, 2021 (155)
80	EVA	ss4017685124	Apr 26, 2021 (155)
81	VINODS	ss4031535609	Apr 26, 2021 (155)
82	TOPMED	ss4980335197	Apr 26, 2021 (155)
83	TOMMO_GENOMICS	ss5214505543	Apr 26, 2021 (155)
84	1000G_HIGH_COVERAGE	ss5297210261	Oct 16, 2022 (156)
85	HUGCELL_USP	ss5491161858	Oct 16, 2022 (156)
86	EVA	ss5511342242	Oct 16, 2022 (156)
87	1000G_HIGH_COVERAGE	ss5597990281	Oct 16, 2022 (156)
88	SANFORD_IMAGENETICS	ss5656780624	Oct 16, 2022 (156)
89	TOMMO_GENOMICS	ss5767674811	Oct 16, 2022 (156)
90	YY_MCH	ss5814996993	Oct 16, 2022 (156)
91	EVA	ss5841499999	Oct 16, 2022 (156)
92	EVA	ss5851156445	Oct 16, 2022 (156)
93	EVA	ss5902477823	Oct 16, 2022 (156)
94	EVA	ss5948242474	Oct 16, 2022 (156)
95	1000Genomes	NC_000014.8 - 92119248	Oct 12, 2018 (152)
96	1000Genomes_30x	NC_000014.9 - 91652904	Oct 16, 2022 (156)
97	The Avon Longitudinal Study of Parents and Children	NC_000014.8 - 92119248	Oct 12, 2018 (152)
98	Genetic variation in the Estonian population	NC_000014.8 - 92119248	Oct 12, 2018 (152)
99	The Danish reference pan genome	NC_000014.8 - 92119248	Apr 27, 2020 (154)
100	gnomAD - Genomes	NC_000014.9 - 91652904	Apr 26, 2021 (155)
101	Genome of the Netherlands Release 5	NC_000014.8 - 92119248	Apr 27, 2020 (154)
102	HGDP-CEPH-db Supplement 1	NC_000014.7 - 91189001	Apr 27, 2020 (154)
103	HapMap	NC_000014.9 - 91652904	Apr 27, 2020 (154)
104	KOREAN population from KRGDB	NC_000014.8 - 92119248	Apr 27, 2020 (154)
105	Northern Sweden	NC_000014.8 - 92119248	Jul 13, 2019 (153)
106	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000014.8 - 92119248	Apr 26, 2021 (155)
107	Qatari	NC_000014.8 - 92119248	Apr 27, 2020 (154)
108	SGDP_PRJ	NC_000014.8 - 92119248	Apr 27, 2020 (154)
109	Siberian	NC_000014.8 - 92119248	Apr 27, 2020 (154)
110	8.3KJPN	NC_000014.8 - 92119248	Apr 26, 2021 (155)
111	14KJPN	NC_000014.9 - 91652904	Oct 16, 2022 (156)
112	TopMed	NC_000014.9 - 91652904	Apr 26, 2021 (155)
113	UK 10K study - Twins	NC_000014.8 - 92119248	Oct 12, 2018 (152)
114	A Vietnamese Genetic Variation Database	NC_000014.8 - 92119248	Jul 13, 2019 (153)
115	ALFA	NC_000014.9 - 91652904	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)
rs59261364	May 25, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
190926, ss78611813, ss85753919, ss108558522, ss113705162, ss118691841, ss168502712, ss170317140, ss171498046, ss200411591, ss255197257, ss282110902, ss286891318, ss291652317, ss1695457411, ss1713466078, ss3639046949, ss3639832755, ss3643052131, ss3643883136, ss3847513034	NC_000014.7:91189000:A:G	NC_000014.9:91652903:A:G	(self)
65151436, 36211073, 25662993, 3721237, 16166756, 38353728, 13917456, 923106, 16855439, 34114017, 9089617, 72474850, 36211073, 8055419, ss226718434, ss236652075, ss243063988, ss536758971, ss564268785, ss659964416, ss832718229, ss833309059, ss991443829, ss1079878971, ss1352127960, ss1427508645, ss1577427946, ss1632340637, ss1675334670, ss1808043690, ss1934813509, ss1968029008, ss2028190851, ss2095055850, ss2156573263, ss2628584344, ss2701008790, ss2930882510, ss3012660130, ss3350937764, ss3627285025, ss3638066556, ss3651992011, ss3679924745, ss3740632591, ss3752671222, ss3834064789, ss3840623517, ss3882097037, ss3931176334, ss3985697179, ss4017685124, ss5214505543, ss5511342242, ss5656780624, ss5841499999, ss5948242474	NC_000014.8:92119247:A:G	NC_000014.9:91652903:A:G	(self)
85516216, 459312301, 1201967, 101511915, 195880856, 1155562891, ss2204314133, ss3027922169, ss3650263845, ss3697238601, ss3817998313, ss3846113739, ss4980335197, ss5297210261, ss5491161858, ss5597990281, ss5767674811, ss5814996993, ss5851156445, ss5902477823	NC_000014.9:91652903:A:G	NC_000014.9:91652903:A:G	(self)
ss18302064, ss21159117	NT_026437.10:72039288:A:G	NC_000014.9:91652903:A:G	(self)
ss43592318, ss66985917, ss67159993, ss68122539, ss70557495, ss71095003, ss75852692, ss85189771, ss96878741, ss136967585, ss153142145, ss156127113, ss159205794, ss171895105	NT_026437.12:73119247:A:G	NC_000014.9:91652903:A:G	(self)
ss4031535609	NT_187598.1:120698:A:G	NC_000014.9:91652903:A:G	(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 rs12147012

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

rs12147012