Name: rs244430
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.

rs244430

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr5:110770934 (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: T>C
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.309249 (81855/264690, TOPMED)
C=0.290035 (40370/139190, GnomAD)
C=0.26759 (7561/28256, 14KJPN) (+ 17 more)
C=0.26657 (5750/21570, ALFA)
C=0.26939 (4515/16760, 8.3KJPN)
C=0.3193 (2045/6404, 1000G_30x)
C=0.3069 (1537/5008, 1000G)
C=0.1071 (480/4480, Estonian)
C=0.1095 (422/3854, ALSPAC)
C=0.1162 (431/3708, TWINSUK)
C=0.2928 (858/2930, KOREAN)
C=0.3100 (568/1832, Korea1K)
C=0.104 (104/998, GoNL)
C=0.118 (71/600, NorthernSweden)
C=0.382 (126/330, HapMap)
T=0.310 (72/232, SGDP_PRJ)
C=0.245 (53/216, Qatari)
C=0.259 (55/212, Vietnamese)
C=0.17 (7/40, GENOME_DK)
T=0.32 (7/22, 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	21570	T=0.73343	C=0.26657
European	Sub	14286	T=0.87582	C=0.12418
African	Sub	5574	T=0.3671	C=0.6329
African Others	Sub	198	T=0.227	C=0.773
African American	Sub	5376	T=0.3722	C=0.6278
Asian	Sub	112	T=0.714	C=0.286
East Asian	Sub	86	T=0.73	C=0.27
Other Asian	Sub	26	T=0.65	C=0.35
Latin American 1	Sub	146	T=0.747	C=0.253
Latin American 2	Sub	610	T=0.775	C=0.225
South Asian	Sub	98	T=0.86	C=0.14
Other	Sub	744	T=0.694	C=0.306

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	T=0.690751	C=0.309249
gnomAD - Genomes	Global	Study-wide	139190	T=0.709965	C=0.290035
gnomAD - Genomes	European	Sub	75436	T=0.88283	C=0.11717
gnomAD - Genomes	African	Sub	41774	T=0.37830	C=0.62170
gnomAD - Genomes	American	Sub	13474	T=0.76904	C=0.23096
gnomAD - Genomes	Ashkenazi Jewish	Sub	3312	T=0.7011	C=0.2989
gnomAD - Genomes	East Asian	Sub	3064	T=0.7337	C=0.2663
gnomAD - Genomes	Other	Sub	2130	T=0.6986	C=0.3014
14KJPN	JAPANESE	Study-wide	28256	T=0.73241	C=0.26759
Allele Frequency Aggregator	Total	Global	21570	T=0.73343	C=0.26657
Allele Frequency Aggregator	European	Sub	14286	T=0.87582	C=0.12418
Allele Frequency Aggregator	African	Sub	5574	T=0.3671	C=0.6329
Allele Frequency Aggregator	Other	Sub	744	T=0.694	C=0.306
Allele Frequency Aggregator	Latin American 2	Sub	610	T=0.775	C=0.225
Allele Frequency Aggregator	Latin American 1	Sub	146	T=0.747	C=0.253
Allele Frequency Aggregator	Asian	Sub	112	T=0.714	C=0.286
Allele Frequency Aggregator	South Asian	Sub	98	T=0.86	C=0.14
8.3KJPN	JAPANESE	Study-wide	16760	T=0.73061	C=0.26939
1000Genomes_30x	Global	Study-wide	6404	T=0.6807	C=0.3193
1000Genomes_30x	African	Sub	1786	T=0.2973	C=0.7027
1000Genomes_30x	Europe	Sub	1266	T=0.8602	C=0.1398
1000Genomes_30x	South Asian	Sub	1202	T=0.9526	C=0.0474
1000Genomes_30x	East Asian	Sub	1170	T=0.7521	C=0.2479
1000Genomes_30x	American	Sub	980	T=0.729	C=0.271
1000Genomes	Global	Study-wide	5008	T=0.6931	C=0.3069
1000Genomes	African	Sub	1322	T=0.3041	C=0.6959
1000Genomes	East Asian	Sub	1008	T=0.7460	C=0.2540
1000Genomes	Europe	Sub	1006	T=0.8588	C=0.1412
1000Genomes	South Asian	Sub	978	T=0.962	C=0.038
1000Genomes	American	Sub	694	T=0.738	C=0.262
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.8929	C=0.1071
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.8905	C=0.1095
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.8838	C=0.1162
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.7072	C=0.2928
Korean Genome Project	KOREAN	Study-wide	1832	T=0.6900	C=0.3100
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.896	C=0.104
Northern Sweden	ACPOP	Study-wide	600	T=0.882	C=0.118
HapMap	Global	Study-wide	330	T=0.618	C=0.382
HapMap	African	Sub	120	T=0.258	C=0.742
HapMap	American	Sub	120	T=0.875	C=0.125
HapMap	Asian	Sub	90	T=0.76	C=0.24
SGDP_PRJ	Global	Study-wide	232	T=0.310	C=0.690
Qatari	Global	Study-wide	216	T=0.755	C=0.245
A Vietnamese Genetic Variation Database	Global	Study-wide	212	T=0.741	C=0.259
The Danish reference pan genome	Danish	Study-wide	40	T=0.82	C=0.17
Siberian	Global	Study-wide	22	T=0.32	C=0.68

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 5	NC_000005.10:g.110770934T>C
GRCh37.p13 chr 5	NC_000005.9:g.110106634T>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	T=	C
GRCh38.p14 chr 5	NC_000005.10:g.110770934=	NC_000005.10:g.110770934T>C
GRCh37.p13 chr 5	NC_000005.9:g.110106634=	NC_000005.9:g.110106634T>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#.

65 SubSNP, 20 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	KWOK	ss314185	Jul 12, 2000 (79)
2	SC_JCM	ss627819	Jul 16, 2000 (80)
3	KWOK	ss1113370	Oct 04, 2000 (86)
4	KWOK	ss2033043	Oct 18, 2000 (92)
5	WI_SSAHASNP	ss11756502	Jul 11, 2003 (116)
6	WI_SSAHASNP	ss14671486	Dec 05, 2003 (126)
7	CSHL-HAPMAP	ss19634779	Feb 27, 2004 (120)
8	ABI	ss42421164	Mar 10, 2006 (126)
9	HGSV	ss78964032	Dec 06, 2007 (129)
10	1000GENOMES	ss109308015	Jan 23, 2009 (130)
11	1000GENOMES	ss112350226	Jan 25, 2009 (130)
12	ILLUMINA-UK	ss116756045	Feb 14, 2009 (130)
13	COMPLETE_GENOMICS	ss165688704	Jul 04, 2010 (132)
14	BUSHMAN	ss200672448	Jul 04, 2010 (132)
15	1000GENOMES	ss221876801	Jul 14, 2010 (132)
16	1000GENOMES	ss233087143	Jul 14, 2010 (132)
17	1000GENOMES	ss240224473	Jul 15, 2010 (132)
18	GMI	ss278425624	May 04, 2012 (137)
19	PJP	ss293432111	May 09, 2011 (134)
20	TISHKOFF	ss558614794	Apr 25, 2013 (138)
21	SSMP	ss652504323	Apr 25, 2013 (138)
22	EVA-GONL	ss981955664	Aug 21, 2014 (142)
23	JMKIDD_LAB	ss1072918780	Aug 21, 2014 (142)
24	1000GENOMES	ss1316581584	Aug 21, 2014 (142)
25	EVA_GENOME_DK	ss1581285305	Apr 01, 2015 (144)
26	EVA_DECODE	ss1591477430	Apr 01, 2015 (144)
27	EVA_UK10K_ALSPAC	ss1613671663	Apr 01, 2015 (144)
28	EVA_UK10K_TWINSUK	ss1656665696	Apr 01, 2015 (144)
29	HAMMER_LAB	ss1804011502	Sep 08, 2015 (146)
30	WEILL_CORNELL_DGM	ss1925209512	Feb 12, 2016 (147)
31	GENOMED	ss1970174683	Jul 19, 2016 (147)
32	JJLAB	ss2023211334	Sep 14, 2016 (149)
33	USC_VALOUEV	ss2151367649	Dec 20, 2016 (150)
34	HUMAN_LONGEVITY	ss2276818213	Dec 20, 2016 (150)
35	GRF	ss2706925508	Nov 08, 2017 (151)
36	GNOMAD	ss2828968996	Nov 08, 2017 (151)
37	SWEGEN	ss2997540067	Nov 08, 2017 (151)
38	BIOINF_KMB_FNS_UNIBA	ss3025388635	Nov 08, 2017 (151)
39	CSHL	ss3346555744	Nov 08, 2017 (151)
40	EGCUT_WGS	ss3665438269	Jul 13, 2019 (153)
41	EVA_DECODE	ss3715399088	Jul 13, 2019 (153)
42	ACPOP	ss3732680046	Jul 13, 2019 (153)
43	EVA	ss3763870343	Jul 13, 2019 (153)
44	PACBIO	ss3785209349	Jul 13, 2019 (153)
45	PACBIO	ss3790599453	Jul 13, 2019 (153)
46	PACBIO	ss3795476230	Jul 13, 2019 (153)
47	KHV_HUMAN_GENOMES	ss3807042656	Jul 13, 2019 (153)
48	EVA	ss3829426107	Apr 26, 2020 (154)
49	SGDP_PRJ	ss3862646657	Apr 26, 2020 (154)
50	KRGDB	ss3909259249	Apr 26, 2020 (154)
51	KOGIC	ss3957366935	Apr 26, 2020 (154)
52	TOPMED	ss4673173128	Apr 26, 2021 (155)
53	TOMMO_GENOMICS	ss5173443426	Apr 26, 2021 (155)
54	1000G_HIGH_COVERAGE	ss5265289160	Oct 17, 2022 (156)
55	EVA	ss5359956234	Oct 17, 2022 (156)
56	HUGCELL_USP	ss5463316664	Oct 17, 2022 (156)
57	EVA	ss5508154020	Oct 17, 2022 (156)
58	1000G_HIGH_COVERAGE	ss5549647576	Oct 17, 2022 (156)
59	SANFORD_IMAGENETICS	ss5638562104	Oct 17, 2022 (156)
60	TOMMO_GENOMICS	ss5710322928	Oct 17, 2022 (156)
61	YY_MCH	ss5806635573	Oct 17, 2022 (156)
62	EVA	ss5835429226	Oct 17, 2022 (156)
63	EVA	ss5854956143	Oct 17, 2022 (156)
64	EVA	ss5895680441	Oct 17, 2022 (156)
65	EVA	ss5967011327	Oct 17, 2022 (156)
66	1000Genomes	NC_000005.9 - 110106634	Oct 12, 2018 (152)
67	1000Genomes_30x	NC_000005.10 - 110770934	Oct 17, 2022 (156)
68	The Avon Longitudinal Study of Parents and Children	NC_000005.9 - 110106634	Oct 12, 2018 (152)
69	Genetic variation in the Estonian population	NC_000005.9 - 110106634	Oct 12, 2018 (152)
70	The Danish reference pan genome	NC_000005.9 - 110106634	Apr 26, 2020 (154)
71	gnomAD - Genomes	NC_000005.10 - 110770934	Apr 26, 2021 (155)
72	Genome of the Netherlands Release 5	NC_000005.9 - 110106634	Apr 26, 2020 (154)
73	HapMap	NC_000005.10 - 110770934	Apr 26, 2020 (154)
74	KOREAN population from KRGDB	NC_000005.9 - 110106634	Apr 26, 2020 (154)
75	Korean Genome Project	NC_000005.10 - 110770934	Apr 26, 2020 (154)
76	Northern Sweden	NC_000005.9 - 110106634	Jul 13, 2019 (153)
77	Qatari	NC_000005.9 - 110106634	Apr 26, 2020 (154)
78	SGDP_PRJ	NC_000005.9 - 110106634	Apr 26, 2020 (154)
79	Siberian	NC_000005.9 - 110106634	Apr 26, 2020 (154)
80	8.3KJPN	NC_000005.9 - 110106634	Apr 26, 2021 (155)
81	14KJPN	NC_000005.10 - 110770934	Oct 17, 2022 (156)
82	TopMed	NC_000005.10 - 110770934	Apr 26, 2021 (155)
83	UK 10K study - Twins	NC_000005.9 - 110106634	Oct 12, 2018 (152)
84	A Vietnamese Genetic Variation Database	NC_000005.9 - 110106634	Jul 13, 2019 (153)
85	ALFA	NC_000005.10 - 110770934	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)
rs1288609	Jan 18, 2001 (92)
rs10397600	Mar 10, 2006 (126)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss78964032, ss109308015, ss112350226, ss116756045, ss165688704, ss200672448, ss278425624, ss293432111, ss1591477430	NC_000005.8:110134532:T:C	NC_000005.10:110770933:T:C	(self)
28238304, 15701268, 11176517, 7450244, 6978413, 16436643, 5964911, 7251442, 14663637, 3884003, 31412733, 15701268, 3483819, ss221876801, ss233087143, ss240224473, ss558614794, ss652504323, ss981955664, ss1072918780, ss1316581584, ss1581285305, ss1613671663, ss1656665696, ss1804011502, ss1925209512, ss1970174683, ss2023211334, ss2151367649, ss2706925508, ss2828968996, ss2997540067, ss3346555744, ss3665438269, ss3732680046, ss3763870343, ss3785209349, ss3790599453, ss3795476230, ss3829426107, ss3862646657, ss3909259249, ss5173443426, ss5359956234, ss5508154020, ss5638562104, ss5835429226, ss5967011327	NC_000005.9:110106633:T:C	NC_000005.10:110770933:T:C	(self)
37173511, 199771394, 2937836, 13744936, 44160032, 510550685, 6642176640, ss2276818213, ss3025388635, ss3715399088, ss3807042656, ss3957366935, ss4673173128, ss5265289160, ss5463316664, ss5549647576, ss5710322928, ss5806635573, ss5854956143, ss5895680441	NC_000005.10:110770933:T:C	NC_000005.10:110770933:T:C	(self)
ss11756502	NT_034772.4:12521653:T:C	NC_000005.10:110770933:T:C	(self)
ss14671486, ss19634779	NT_034772.5:12521646:T:C	NC_000005.10:110770933:T:C	(self)
ss314185, ss627819, ss1113370, ss2033043, ss42421164	NT_034772.6:18420505:T:C	NC_000005.10:110770933:T: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 rs244430

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

rs244430