Name: rs2445432
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.

rs2445432

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr12:14961042 (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: G=0.260252 (68886/264690, TOPMED)
G=0.249731 (34845/139530, GnomAD)
G=0.38010 (10741/28258, 14KJPN) (+ 17 more)
G=0.25493 (6410/25144, ALFA)
G=0.38174 (6398/16760, 8.3KJPN)
G=0.2773 (1776/6404, 1000G_30x)
G=0.2796 (1400/5008, 1000G)
G=0.2444 (1095/4480, Estonian)
G=0.2506 (966/3854, ALSPAC)
G=0.2327 (863/3708, TWINSUK)
G=0.3382 (991/2930, KOREAN)
G=0.3674 (673/1832, Korea1K)
G=0.234 (234/998, GoNL)
G=0.213 (128/600, NorthernSweden)
A=0.387 (96/248, SGDP_PRJ)
G=0.301 (65/216, Qatari)
G=0.280 (33/118, HapMap)
G=0.25 (10/40, GENOME_DK)
A=0.50 (13/26, Siberian)
G=0.50 (13/26, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: ARHGDIB : 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	25238	A=0.74507	G=0.25493
European	Sub	20366	A=0.74330	G=0.25670
African	Sub	2946	A=0.7817	G=0.2183
African Others	Sub	114	A=0.816	G=0.184
African American	Sub	2832	A=0.7804	G=0.2196
Asian	Sub	112	A=0.643	G=0.357
East Asian	Sub	86	A=0.62	G=0.38
Other Asian	Sub	26	A=0.73	G=0.27
Latin American 1	Sub	146	A=0.767	G=0.233
Latin American 2	Sub	610	A=0.648	G=0.352
South Asian	Sub	98	A=0.82	G=0.18
Other	Sub	960	A=0.733	G=0.267

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=0.739748	G=0.260252
gnomAD - Genomes	Global	Study-wide	139530	A=0.750269	G=0.249731
gnomAD - Genomes	European	Sub	75884	A=0.75602	G=0.24398
gnomAD - Genomes	African	Sub	41404	A=0.77596	G=0.22404
gnomAD - Genomes	American	Sub	13646	A=0.67822	G=0.32178
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	A=0.7413	G=0.2587
gnomAD - Genomes	East Asian	Sub	3128	A=0.6055	G=0.3945
gnomAD - Genomes	Other	Sub	2144	A=0.7341	G=0.2659
14KJPN	JAPANESE	Study-wide	28258	A=0.61990	G=0.38010
Allele Frequency Aggregator	Total	Global	25144	A=0.74507	G=0.25493
Allele Frequency Aggregator	European	Sub	20290	A=0.74322	G=0.25678
Allele Frequency Aggregator	African	Sub	2946	A=0.7817	G=0.2183
Allele Frequency Aggregator	Other	Sub	942	A=0.735	G=0.265
Allele Frequency Aggregator	Latin American 2	Sub	610	A=0.648	G=0.352
Allele Frequency Aggregator	Latin American 1	Sub	146	A=0.767	G=0.233
Allele Frequency Aggregator	Asian	Sub	112	A=0.643	G=0.357
Allele Frequency Aggregator	South Asian	Sub	98	A=0.82	G=0.18
8.3KJPN	JAPANESE	Study-wide	16760	A=0.61826	G=0.38174
1000Genomes_30x	Global	Study-wide	6404	A=0.7227	G=0.2773
1000Genomes_30x	African	Sub	1786	A=0.7900	G=0.2100
1000Genomes_30x	Europe	Sub	1266	A=0.7370	G=0.2630
1000Genomes_30x	South Asian	Sub	1202	A=0.7862	G=0.2138
1000Genomes_30x	East Asian	Sub	1170	A=0.6000	G=0.4000
1000Genomes_30x	American	Sub	980	A=0.650	G=0.350
1000Genomes	Global	Study-wide	5008	A=0.7204	G=0.2796
1000Genomes	African	Sub	1322	A=0.7882	G=0.2118
1000Genomes	East Asian	Sub	1008	A=0.5982	G=0.4018
1000Genomes	Europe	Sub	1006	A=0.7425	G=0.2575
1000Genomes	South Asian	Sub	978	A=0.790	G=0.210
1000Genomes	American	Sub	694	A=0.638	G=0.362
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.7556	G=0.2444
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.7494	G=0.2506
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.7673	G=0.2327
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.6618	G=0.3382
Korean Genome Project	KOREAN	Study-wide	1832	A=0.6326	G=0.3674
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.766	G=0.234
Northern Sweden	ACPOP	Study-wide	600	A=0.787	G=0.213
SGDP_PRJ	Global	Study-wide	248	A=0.387	G=0.613
Qatari	Global	Study-wide	216	A=0.699	G=0.301
HapMap	Global	Study-wide	118	A=0.720	G=0.280
HapMap	American	Sub	118	A=0.720	G=0.280
The Danish reference pan genome	Danish	Study-wide	40	A=0.75	G=0.25
Siberian	Global	Study-wide	26	A=0.50	G=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.14961042A>G
GRCh37.p13 chr 12	NC_000012.11:g.15113976A>G

Gene: ARHGDIB, Rho GDP dissociation inhibitor beta (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ARHGDIB transcript variant 1	NM_001175.7:c.-13+495T>C	N/A	Intron Variant
ARHGDIB transcript variant 2	NM_001321420.2:c.-171+495… NM_001321420.2:c.-171+495T>C	N/A	Intron Variant
ARHGDIB transcript variant 3	NM_001321421.2:c.-13+112T… NM_001321421.2:c.-13+112T>C	N/A	Intron Variant
ARHGDIB transcript variant 4	NM_001321422.1:c.	N/A	Genic Upstream Transcript Variant
ARHGDIB transcript variant 5	NM_001321423.1:c.	N/A	Genic Upstream Transcript Variant
ARHGDIB transcript variant 6	NR_135637.2:n.	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	A=	G
GRCh38.p14 chr 12	NC_000012.12:g.14961042=	NC_000012.12:g.14961042A>G
GRCh37.p13 chr 12	NC_000012.11:g.15113976=	NC_000012.11:g.15113976A>G
ARHGDIB transcript	NM_001175.4:c.-13+495=	NM_001175.4:c.-13+495T>C
ARHGDIB transcript variant 1	NM_001175.7:c.-13+495=	NM_001175.7:c.-13+495T>C
ARHGDIB transcript variant 2	NM_001321420.2:c.-171+495=	NM_001321420.2:c.-171+495T>C
ARHGDIB transcript variant 3	NM_001321421.2:c.-13+112=	NM_001321421.2:c.-13+112T>C
ARHGDIB transcript variant X1	XM_005253367.1:c.-13+112=	XM_005253367.1:c.-13+112T>C
ARHGDIB transcript variant X2	XM_005253368.1:c.-171+495=	XM_005253368.1:c.-171+495T>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#.

74 SubSNP, 19 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_JCM	ss3427809	Sep 28, 2001 (100)
2	BCM_SSAHASNP	ss11045262	Jul 11, 2003 (116)
3	WI_SSAHASNP	ss12217723	Jul 11, 2003 (116)
4	CSHL-HAPMAP	ss19248917	Feb 27, 2004 (120)
5	SSAHASNP	ss20947432	Apr 05, 2004 (121)
6	PERLEGEN	ss24212671	Sep 20, 2004 (123)
7	ABI	ss38921858	Mar 14, 2006 (126)
8	AFFY	ss65930596	Dec 01, 2006 (127)
9	BCMHGSC_JDW	ss88987776	Mar 24, 2008 (129)
10	SNP500CANCER	ss105441732	Feb 03, 2009 (130)
11	1000GENOMES	ss111533814	Jan 25, 2009 (130)
12	ENSEMBL	ss133018908	Dec 01, 2009 (131)
13	ENSEMBL	ss137523698	Dec 01, 2009 (131)
14	COMPLETE_GENOMICS	ss167851408	Jul 04, 2010 (132)
15	COMPLETE_GENOMICS	ss170475138	Jul 04, 2010 (132)
16	BUSHMAN	ss203583473	Jul 04, 2010 (132)
17	BCM-HGSC-SUB	ss208269373	Jul 04, 2010 (132)
18	1000GENOMES	ss211244926	Jul 14, 2010 (132)
19	1000GENOMES	ss225621611	Jul 14, 2010 (132)
20	1000GENOMES	ss235836012	Jul 15, 2010 (132)
21	1000GENOMES	ss242412532	Jul 15, 2010 (132)
22	BL	ss254906639	May 09, 2011 (134)
23	GMI	ss281286897	May 04, 2012 (137)
24	GMI	ss286512097	Apr 25, 2013 (138)
25	PJP	ss291386824	May 09, 2011 (134)
26	TISHKOFF	ss563011568	Apr 25, 2013 (138)
27	SSMP	ss658543742	Apr 25, 2013 (138)
28	EVA-GONL	ss989267986	Aug 21, 2014 (142)
29	JMKIDD_LAB	ss1078268839	Aug 21, 2014 (142)
30	1000GENOMES	ss1344025408	Aug 21, 2014 (142)
31	DDI	ss1426854030	Apr 01, 2015 (144)
32	EVA_GENOME_DK	ss1576131527	Apr 01, 2015 (144)
33	EVA_DECODE	ss1598938860	Apr 01, 2015 (144)
34	EVA_UK10K_ALSPAC	ss1628071875	Apr 01, 2015 (144)
35	EVA_UK10K_TWINSUK	ss1671065908	Apr 01, 2015 (144)
36	WEILL_CORNELL_DGM	ss1932634071	Feb 12, 2016 (147)
37	GENOMED	ss1967530554	Jul 19, 2016 (147)
38	JJLAB	ss2027062128	Sep 14, 2016 (149)
39	USC_VALOUEV	ss2155388154	Dec 20, 2016 (150)
40	HUMAN_LONGEVITY	ss2187996924	Dec 20, 2016 (150)
41	SYSTEMSBIOZJU	ss2628010824	Nov 08, 2017 (151)
42	GRF	ss2699714633	Nov 08, 2017 (151)
43	GNOMAD	ss2907664195	Nov 08, 2017 (151)
44	AFFY	ss2984969039	Nov 08, 2017 (151)
45	AFFY	ss2985611784	Nov 08, 2017 (151)
46	SWEGEN	ss3009257031	Nov 08, 2017 (151)
47	BIOINF_KMB_FNS_UNIBA	ss3027337044	Nov 08, 2017 (151)
48	CSHL	ss3349938894	Nov 08, 2017 (151)
49	URBANLAB	ss3649775329	Oct 12, 2018 (152)
50	ILLUMINA	ss3653741452	Oct 12, 2018 (152)
51	EGCUT_WGS	ss3676568772	Jul 13, 2019 (153)
52	EVA_DECODE	ss3693171079	Jul 13, 2019 (153)
53	ACPOP	ss3738796504	Jul 13, 2019 (153)
54	EVA	ss3750176077	Jul 13, 2019 (153)
55	KHV_HUMAN_GENOMES	ss3815492515	Jul 13, 2019 (153)
56	EVA	ss3832990534	Apr 26, 2020 (154)
57	EVA	ss3840061398	Apr 26, 2020 (154)
58	EVA	ss3845544931	Apr 26, 2020 (154)
59	SGDP_PRJ	ss3877752173	Apr 26, 2020 (154)
60	KRGDB	ss3926274302	Apr 26, 2020 (154)
61	KOGIC	ss3971335051	Apr 26, 2020 (154)
62	TOPMED	ss4909607331	Apr 26, 2021 (155)
63	TOMMO_GENOMICS	ss5205194286	Apr 26, 2021 (155)
64	1000G_HIGH_COVERAGE	ss5289907148	Oct 13, 2022 (156)
65	EVA	ss5404096486	Oct 13, 2022 (156)
66	HUGCELL_USP	ss5484780865	Oct 13, 2022 (156)
67	1000G_HIGH_COVERAGE	ss5586877194	Oct 13, 2022 (156)
68	SANFORD_IMAGENETICS	ss5652649821	Oct 13, 2022 (156)
69	TOMMO_GENOMICS	ss5754034456	Oct 13, 2022 (156)
70	YY_MCH	ss5813039038	Oct 13, 2022 (156)
71	EVA	ss5837628682	Oct 13, 2022 (156)
72	EVA	ss5850272342	Oct 13, 2022 (156)
73	EVA	ss5903393476	Oct 13, 2022 (156)
74	EVA	ss5943997313	Oct 13, 2022 (156)
75	1000Genomes	NC_000012.11 - 15113976	Oct 12, 2018 (152)
76	1000Genomes_30x	NC_000012.12 - 14961042	Oct 13, 2022 (156)
77	The Avon Longitudinal Study of Parents and Children	NC_000012.11 - 15113976	Oct 12, 2018 (152)
78	Genetic variation in the Estonian population	NC_000012.11 - 15113976	Oct 12, 2018 (152)
79	The Danish reference pan genome	NC_000012.11 - 15113976	Apr 26, 2020 (154)
80	gnomAD - Genomes	NC_000012.12 - 14961042	Apr 26, 2021 (155)
81	Genome of the Netherlands Release 5	NC_000012.11 - 15113976	Apr 26, 2020 (154)
82	HapMap	NC_000012.12 - 14961042	Apr 26, 2020 (154)
83	KOREAN population from KRGDB	NC_000012.11 - 15113976	Apr 26, 2020 (154)
84	Korean Genome Project	NC_000012.12 - 14961042	Apr 26, 2020 (154)
85	Northern Sweden	NC_000012.11 - 15113976	Jul 13, 2019 (153)
86	Qatari	NC_000012.11 - 15113976	Apr 26, 2020 (154)
87	SGDP_PRJ	NC_000012.11 - 15113976	Apr 26, 2020 (154)
88	Siberian	NC_000012.11 - 15113976	Apr 26, 2020 (154)
89	8.3KJPN	NC_000012.11 - 15113976	Apr 26, 2021 (155)
90	14KJPN	NC_000012.12 - 14961042	Oct 13, 2022 (156)
91	TopMed	NC_000012.12 - 14961042	Apr 26, 2021 (155)
92	UK 10K study - Twins	NC_000012.11 - 15113976	Oct 12, 2018 (152)
93	ALFA	NC_000012.12 - 14961042	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)
rs17221581	Oct 08, 2004 (123)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss88987776, ss111533814, ss167851408, ss170475138, ss203583473, ss208269373, ss211244926, ss254906639, ss281286897, ss286512097, ss291386824, ss1598938860	NC_000012.10:15005242:A:G	NC_000012.12:14961041:A:G	(self)
56737199, 31502941, 22307020, 2856158, 14055395, 33451696, 12081369, 14676001, 29769153, 7904508, 63163593, 31502941, ss225621611, ss235836012, ss242412532, ss563011568, ss658543742, ss989267986, ss1078268839, ss1344025408, ss1426854030, ss1576131527, ss1628071875, ss1671065908, ss1932634071, ss1967530554, ss2027062128, ss2155388154, ss2628010824, ss2699714633, ss2907664195, ss2984969039, ss2985611784, ss3009257031, ss3349938894, ss3653741452, ss3676568772, ss3738796504, ss3750176077, ss3832990534, ss3840061398, ss3877752173, ss3926274302, ss5205194286, ss5404096486, ss5652649821, ss5837628682, ss5943997313	NC_000012.11:15113975:A:G	NC_000012.12:14961041:A:G	(self)
74403129, 400061743, 761351, 27713052, 87871560, 125152988, 262346287, ss2187996924, ss3027337044, ss3649775329, ss3693171079, ss3815492515, ss3845544931, ss3971335051, ss4909607331, ss5289907148, ss5484780865, ss5586877194, ss5754034456, ss5813039038, ss5850272342, ss5903393476	NC_000012.12:14961041:A:G	NC_000012.12:14961041:A:G	(self)
ss11045262, ss12217723	NT_009714.15:7872949:A:G	NC_000012.12:14961041:A:G	(self)
ss19248917, ss20947432	NT_009714.16:7872949:A:G	NC_000012.12:14961041:A:G	(self)
ss3427809, ss24212671, ss38921858, ss65930596, ss105441732, ss133018908, ss137523698	NT_009714.17:7874099:A:G	NC_000012.12:14961041: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 rs2445432

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

rs2445432