Name: rs4785705
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.

rs4785705

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr16:89706006 (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 / C>G / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.448011 (118584/264690, TOPMED)
C=0.00665 (188/28258, 14KJPN)
C=0.00692 (116/16760, 8.3KJPN) (+ 10 more)
T=0.3934 (3711/9432, ALFA)
C=0.3300 (2113/6404, 1000G_30x)
C=0.3249 (1627/5008, 1000G)
C=0.4176 (1871/4480, Estonian)
C=0.0150 (44/2928, KOREAN)
C=0.0142 (26/1826, Korea1K)
T=0.487 (486/998, GoNL)
C=0.182 (85/466, SGDP_PRJ)
T=0.375 (81/216, Qatari)
C=0.12 (4/32, 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	9432	C=0.6066	A=0.0000, G=0.0000, T=0.3934
European	Sub	8634	C=0.5784	A=0.0000, G=0.0000, T=0.4216
African	Sub	556	C=0.914	A=0.000, G=0.000, T=0.086
African Others	Sub	16	C=0.81	A=0.00, G=0.00, T=0.19
African American	Sub	540	C=0.917	A=0.000, G=0.000, T=0.083
Asian	Sub	4	C=0.0	A=0.0, G=0.0, T=1.0
East Asian	Sub	2	C=0.0	A=0.0, G=0.0, T=1.0
Other Asian	Sub	2	C=0.0	A=0.0, G=0.0, T=1.0
Latin American 1	Sub	34	C=1.00	A=0.00, G=0.00, T=0.00
Latin American 2	Sub	54	C=1.00	A=0.00, G=0.00, T=0.00
South Asian	Sub	26	C=0.92	A=0.00, G=0.00, T=0.08
Other	Sub	124	C=0.863	A=0.000, G=0.000, T=0.137

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
TopMed	Global	Study-wide	264690	C=0.448011	T=0.551989
14KJPN	JAPANESE	Study-wide	28258	C=0.00665	T=0.99335
8.3KJPN	JAPANESE	Study-wide	16760	C=0.00692	T=0.99308
Allele Frequency Aggregator	Total	Global	9432	C=0.6066	A=0.0000, G=0.0000, T=0.3934
Allele Frequency Aggregator	European	Sub	8634	C=0.5784	A=0.0000, G=0.0000, T=0.4216
Allele Frequency Aggregator	African	Sub	556	C=0.914	A=0.000, G=0.000, T=0.086
Allele Frequency Aggregator	Other	Sub	124	C=0.863	A=0.000, G=0.000, T=0.137
Allele Frequency Aggregator	Latin American 2	Sub	54	C=1.00	A=0.00, G=0.00, T=0.00
Allele Frequency Aggregator	Latin American 1	Sub	34	C=1.00	A=0.00, G=0.00, T=0.00
Allele Frequency Aggregator	South Asian	Sub	26	C=0.92	A=0.00, G=0.00, T=0.08
Allele Frequency Aggregator	Asian	Sub	4	C=0.0	A=0.0, G=0.0, T=1.0
1000Genomes_30x	Global	Study-wide	6404	C=0.3300	T=0.6700
1000Genomes_30x	African	Sub	1786	C=0.3875	T=0.6125
1000Genomes_30x	Europe	Sub	1266	C=0.5126	T=0.4874
1000Genomes_30x	South Asian	Sub	1202	C=0.3062	T=0.6938
1000Genomes_30x	East Asian	Sub	1170	C=0.0060	T=0.9940
1000Genomes_30x	American	Sub	980	C=0.405	T=0.595
1000Genomes	Global	Study-wide	5008	C=0.3249	T=0.6751
1000Genomes	African	Sub	1322	C=0.4002	T=0.5998
1000Genomes	East Asian	Sub	1008	C=0.0030	T=0.9970
1000Genomes	Europe	Sub	1006	C=0.5229	T=0.4771
1000Genomes	South Asian	Sub	978	C=0.293	T=0.707
1000Genomes	American	Sub	694	C=0.406	T=0.594
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.4176	T=0.5824
KOREAN population from KRGDB	KOREAN	Study-wide	2928	C=0.0150	T=0.9850
Korean Genome Project	KOREAN	Study-wide	1826	C=0.0142	T=0.9858
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.513	T=0.487
SGDP_PRJ	Global	Study-wide	466	C=0.182	T=0.818
Qatari	Global	Study-wide	216	C=0.625	T=0.375
Siberian	Global	Study-wide	32	C=0.12	T=0.88

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 16	NC_000016.10:g.89706006C>A
GRCh38.p14 chr 16	NC_000016.10:g.89706006C>G
GRCh38.p14 chr 16	NC_000016.10:g.89706006C>T
GRCh37.p13 chr 16	NC_000016.9:g.89772414C>A
GRCh37.p13 chr 16	NC_000016.9:g.89772414C>G
GRCh37.p13 chr 16	NC_000016.9:g.89772414C>T

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	G	T
GRCh38.p14 chr 16	NC_000016.10:g.89706006=	NC_000016.10:g.89706006C>A	NC_000016.10:g.89706006C>G	NC_000016.10:g.89706006C>T
GRCh37.p13 chr 16	NC_000016.9:g.89772414=	NC_000016.9:g.89772414C>A	NC_000016.9:g.89772414C>G	NC_000016.9:g.89772414C>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#.

51 SubSNP, 15 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	WI_SSAHASNP	ss6603708	Feb 20, 2003 (111)
2	SSAHASNP	ss21300549	Apr 05, 2004 (121)
3	ABI	ss40699310	Mar 15, 2006 (126)
4	HGSV	ss77547508	Dec 07, 2007 (129)
5	HGSV	ss78402649	Dec 07, 2007 (129)
6	HGSV	ss83506024	Dec 15, 2007 (130)
7	BCMHGSC_JDW	ss90499674	Mar 24, 2008 (129)
8	HUMANGENOME_JCVI	ss96658207	Feb 06, 2009 (130)
9	ENSEMBL	ss136633112	Dec 01, 2009 (131)
10	ENSEMBL	ss136887752	Dec 01, 2009 (131)
11	BCM-HGSC-SUB	ss207731821	Jul 04, 2010 (132)
12	GMI	ss282656063	May 04, 2012 (137)
13	1000GENOMES	ss339494129	May 09, 2011 (134)
14	SSMP	ss660890382	Apr 25, 2013 (138)
15	EVA-GONL	ss992828294	Aug 21, 2014 (142)
16	1000GENOMES	ss1357552065	Aug 21, 2014 (142)
17	DDI	ss1427947997	Apr 01, 2015 (144)
18	WEILL_CORNELL_DGM	ss1936270317	Feb 12, 2016 (147)
19	USC_VALOUEV	ss2157366365	Dec 20, 2016 (150)
20	GRF	ss2701903118	Nov 08, 2017 (151)
21	GNOMAD	ss2946674597	Nov 08, 2017 (151)
22	SWEGEN	ss3015037183	Nov 08, 2017 (151)
23	CSHL	ss3351605265	Nov 08, 2017 (151)
24	URBANLAB	ss3650579329	Oct 12, 2018 (152)
25	EGCUT_WGS	ss3682015476	Jul 13, 2019 (153)
26	EVA	ss3754340224	Jul 13, 2019 (153)
27	PACBIO	ss3788123522	Jul 13, 2019 (153)
28	PACBIO	ss3793094451	Jul 13, 2019 (153)
29	PACBIO	ss3797979808	Jul 13, 2019 (153)
30	KHV_HUMAN_GENOMES	ss3819610668	Jul 13, 2019 (153)
31	EVA	ss3834730851	Apr 27, 2020 (154)
32	EVA	ss3840972896	Apr 27, 2020 (154)
33	EVA	ss3846466612	Apr 27, 2020 (154)
34	SGDP_PRJ	ss3885131631	Apr 27, 2020 (154)
35	KRGDB	ss3934695192	Apr 27, 2020 (154)
36	KOGIC	ss3978217655	Apr 27, 2020 (154)
37	TOPMED	ss5026543815	Apr 27, 2021 (155)
38	TOMMO_GENOMICS	ss5221054643	Apr 27, 2021 (155)
39	1000G_HIGH_COVERAGE	ss5302098904	Oct 17, 2022 (156)
40	EVA	ss5425809362	Oct 17, 2022 (156)
41	HUGCELL_USP	ss5495321253	Oct 17, 2022 (156)
42	1000G_HIGH_COVERAGE	ss5605317516	Oct 17, 2022 (156)
43	SANFORD_IMAGENETICS	ss5659540933	Oct 17, 2022 (156)
44	TOMMO_GENOMICS	ss5776503089	Oct 17, 2022 (156)
45	YY_MCH	ss5816250936	Oct 17, 2022 (156)
46	EVA	ss5846856761	Oct 17, 2022 (156)
47	EVA	ss5846856762	Oct 17, 2022 (156)
48	EVA	ss5851701264	Oct 17, 2022 (156)
49	EVA	ss5900393835	Oct 17, 2022 (156)
50	EVA	ss5950956031	Oct 17, 2022 (156)
51	EVA	ss5980942778	Oct 17, 2022 (156)
52	1000Genomes	NC_000016.9 - 89772414	Oct 12, 2018 (152)
53	1000Genomes_30x	NC_000016.10 - 89706006	Oct 17, 2022 (156)
54	Genetic variation in the Estonian population	NC_000016.9 - 89772414	Oct 12, 2018 (152)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 498926391 (NC_000016.10:89706005:C:A 1/139906) Row 498926392 (NC_000016.10:89706005:C:T 76652/139808)	-	Apr 27, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 498926391 (NC_000016.10:89706005:C:A 1/139906) Row 498926392 (NC_000016.10:89706005:C:T 76652/139808)	-	Apr 27, 2021 (155)
57	Genome of the Netherlands Release 5	NC_000016.9 - 89772414	Apr 27, 2020 (154)
58	KOREAN population from KRGDB	NC_000016.9 - 89772414	Apr 27, 2020 (154)
59	Korean Genome Project	NC_000016.10 - 89706006	Apr 27, 2020 (154)
60	Qatari	NC_000016.9 - 89772414	Apr 27, 2020 (154)
61	SGDP_PRJ	NC_000016.9 - 89772414	Apr 27, 2020 (154)
62	Siberian	NC_000016.9 - 89772414	Apr 27, 2020 (154)
63	8.3KJPN	NC_000016.9 - 89772414	Apr 27, 2021 (155)
64	14KJPN	NC_000016.10 - 89706006	Oct 17, 2022 (156)
65	TopMed	NC_000016.10 - 89706006	Apr 27, 2021 (155)
66	ALFA	NC_000016.10 - 89706006	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)
rs60913343	May 26, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss2946674597, ss5846856762	NC_000016.9:89772413:C:A	NC_000016.10:89706005:C:A	(self)
6178931795	NC_000016.10:89706005:C:A	NC_000016.10:89706005:C:A	(self)
6178931795	NC_000016.10:89706005:C:G	NC_000016.10:89706005:C:G	(self)
ss77547508, ss78402649, ss83506024, ss90499674, ss207731821, ss282656063	NC_000016.8:88299914:C:T	NC_000016.10:89706005:C:T	(self)
70753134, 27753724, 17495854, 41872586, 18312239, 37148611, 9882719, 79023950, ss339494129, ss660890382, ss992828294, ss1357552065, ss1427947997, ss1936270317, ss2157366365, ss2701903118, ss2946674597, ss3015037183, ss3351605265, ss3682015476, ss3754340224, ss3788123522, ss3793094451, ss3797979808, ss3834730851, ss3840972896, ss3885131631, ss3934695192, ss5221054643, ss5425809362, ss5659540933, ss5846856761, ss5950956031, ss5980942778	NC_000016.9:89772413:C:T	NC_000016.10:89706005:C:T	(self)
92843451, 34595656, 110340193, 242089476, 6178931795, ss3650579329, ss3819610668, ss3846466612, ss3978217655, ss5026543815, ss5302098904, ss5495321253, ss5605317516, ss5776503089, ss5816250936, ss5851701264, ss5900393835	NC_000016.10:89706005:C:T	NC_000016.10:89706005:C:T	(self)
ss21300549	NT_010542.14:1329883:C:T	NC_000016.10:89706005:C:T	(self)
ss6603708, ss40699310, ss96658207, ss136633112, ss136887752	NT_010542.15:1333030:C:T	NC_000016.10:89706005:C:T	(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 rs4785705

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

rs4785705