Name: rs4696685
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.

rs4696685

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr4:7937298 (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>A / T>C / T>G
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.286048 (75714/264690, TOPMED)
C=0.266415 (37142/139414, GnomAD)
T=0.22864 (6461/28258, 14KJPN) (+ 15 more)
C=0.20938 (3845/18364, ALFA)
T=0.22667 (3799/16760, 8.3KJPN)
C=0.4105 (2629/6404, 1000G_30x)
C=0.4211 (2109/5008, 1000G)
C=0.2092 (937/4480, Estonian)
C=0.1562 (602/3854, ALSPAC)
C=0.1543 (572/3708, TWINSUK)
T=0.2147 (629/2930, KOREAN)
T=0.2260 (414/1832, Korea1K)
C=0.167 (167/998, GoNL)
C=0.192 (115/600, NorthernSweden)
T=0.345 (122/354, SGDP_PRJ)
C=0.227 (49/216, Qatari)
T=0.32 (14/44, Siberian)
C=0.12 (5/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: AFAP1 : Intron Variant
LOC389199 : 2KB Upstream 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: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	Alt HMOZ	HTRZ	HWEP
Total	Global	18364	T=0.79062	A=0.00000, C=0.20938	0.630037	0.048791	0.321172	5
European	Sub	14068	T=0.82250	A=0.00000, C=0.17750	0.676997	0.031987	0.291015	0
African	Sub	2638	T=0.6994	A=0.0000, C=0.3006	0.4837	0.084913	0.431387	1
African Others	Sub	98	T=0.69	A=0.00, C=0.31	0.428571	0.040816	0.530612	2
African American	Sub	2540	T=0.6996	A=0.0000, C=0.3004	0.485827	0.086614	0.427559	0
Asian	Sub	112	T=0.232	A=0.000, C=0.768	0.053571	0.589286	0.357143	0
East Asian	Sub	86	T=0.20	A=0.00, C=0.80	0.023256	0.627907	0.348837	0
Other Asian	Sub	26	T=0.35	A=0.00, C=0.65	0.153846	0.461538	0.384615	0
Latin American 1	Sub	146	T=0.795	A=0.000, C=0.205	0.630137	0.041096	0.328767	0
Latin American 2	Sub	610	T=0.633	A=0.000, C=0.367	0.409836	0.144262	0.445902	0
South Asian	Sub	98	T=0.58	A=0.00, C=0.42	0.346939	0.183673	0.469388	0
Other	Sub	692	T=0.749	A=0.000, C=0.251	0.560694	0.063584	0.375723	0

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	T=0.713952	C=0.286048
gnomAD - Genomes	Global	Study-wide	139414	T=0.733585	C=0.266415
gnomAD - Genomes	European	Sub	75598	T=0.81727	C=0.18273
gnomAD - Genomes	African	Sub	41650	T=0.65232	C=0.34768
gnomAD - Genomes	American	Sub	13602	T=0.62939	C=0.37061
gnomAD - Genomes	Ashkenazi Jewish	Sub	3312	T=0.7406	C=0.2594
gnomAD - Genomes	East Asian	Sub	3112	T=0.2558	C=0.7442
gnomAD - Genomes	Other	Sub	2140	T=0.7051	C=0.2949
14KJPN	JAPANESE	Study-wide	28258	T=0.22864	C=0.77136
Allele Frequency Aggregator	Total	Global	18364	T=0.79062	A=0.00000, C=0.20938
Allele Frequency Aggregator	European	Sub	14068	T=0.82250	A=0.00000, C=0.17750
Allele Frequency Aggregator	African	Sub	2638	T=0.6994	A=0.0000, C=0.3006
Allele Frequency Aggregator	Other	Sub	692	T=0.749	A=0.000, C=0.251
Allele Frequency Aggregator	Latin American 2	Sub	610	T=0.633	A=0.000, C=0.367
Allele Frequency Aggregator	Latin American 1	Sub	146	T=0.795	A=0.000, C=0.205
Allele Frequency Aggregator	Asian	Sub	112	T=0.232	A=0.000, C=0.768
Allele Frequency Aggregator	South Asian	Sub	98	T=0.58	A=0.00, C=0.42
8.3KJPN	JAPANESE	Study-wide	16760	T=0.22667	C=0.77333
1000Genomes_30x	Global	Study-wide	6404	T=0.5895	C=0.4105
1000Genomes_30x	African	Sub	1786	T=0.6030	C=0.3970
1000Genomes_30x	Europe	Sub	1266	T=0.8191	C=0.1809
1000Genomes_30x	South Asian	Sub	1202	T=0.5774	C=0.4226
1000Genomes_30x	East Asian	Sub	1170	T=0.2821	C=0.7179
1000Genomes_30x	American	Sub	980	T=0.650	C=0.350
1000Genomes	Global	Study-wide	5008	T=0.5789	C=0.4211
1000Genomes	African	Sub	1322	T=0.5961	C=0.4039
1000Genomes	East Asian	Sub	1008	T=0.2788	C=0.7212
1000Genomes	Europe	Sub	1006	T=0.8231	C=0.1769
1000Genomes	South Asian	Sub	978	T=0.570	C=0.430
1000Genomes	American	Sub	694	T=0.641	C=0.359
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.7908	C=0.2092
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.8438	C=0.1562
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.8457	C=0.1543
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.2147	A=0.0000, C=0.7853, G=0.0000
Korean Genome Project	KOREAN	Study-wide	1832	T=0.2260	C=0.7740
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.833	C=0.167
Northern Sweden	ACPOP	Study-wide	600	T=0.808	C=0.192
SGDP_PRJ	Global	Study-wide	354	T=0.345	C=0.655
Qatari	Global	Study-wide	216	T=0.773	C=0.227
Siberian	Global	Study-wide	44	T=0.32	C=0.68
The Danish reference pan genome	Danish	Study-wide	40	T=0.88	C=0.12

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 4	NC_000004.12:g.7937298T>A
GRCh38.p14 chr 4	NC_000004.12:g.7937298T>C
GRCh38.p14 chr 4	NC_000004.12:g.7937298T>G
GRCh37.p13 chr 4	NC_000004.11:g.7939025T>A
GRCh37.p13 chr 4	NC_000004.11:g.7939025T>C
GRCh37.p13 chr 4	NC_000004.11:g.7939025T>G

Gene: AFAP1, actin filament associated protein 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
AFAP1 transcript variant A	NM_001134647.2:c.-3+2358A… NM_001134647.2:c.-3+2358A>T	N/A	Intron Variant
AFAP1 transcript variant 4	NM_001371091.1:c.-781+235… NM_001371091.1:c.-781+2358A>T	N/A	Intron Variant
AFAP1 transcript variant 2	NM_198595.3:c.-3+2358A>T	N/A	Intron Variant
AFAP1 transcript variant 3	NM_001371090.1:c.	N/A	Genic Upstream Transcript Variant
AFAP1 transcript variant X3	XM_006713909.4:c.61+1294A… XM_006713909.4:c.61+1294A>T	N/A	Intron Variant
AFAP1 transcript variant X1	XM_011513544.4:c.	N/A	Genic Upstream Transcript Variant
AFAP1 transcript variant X2	XM_017008535.2:c.	N/A	Genic Upstream Transcript Variant
AFAP1 transcript variant X5	XM_017008536.1:c.	N/A	Genic Upstream Transcript Variant
AFAP1 transcript variant X4	XM_047416061.1:c.	N/A	Genic Upstream Transcript Variant

Gene: LOC389199, uncharacterized LOC389199 (plus strand) : 2KB Upstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
LOC389199 transcript	NR_172651.1:n.	N/A	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	T=	A	C	G
GRCh38.p14 chr 4	NC_000004.12:g.7937298=	NC_000004.12:g.7937298T>A	NC_000004.12:g.7937298T>C	NC_000004.12:g.7937298T>G
GRCh37.p13 chr 4	NC_000004.11:g.7939025=	NC_000004.11:g.7939025T>A	NC_000004.11:g.7939025T>C	NC_000004.11:g.7939025T>G
AFAP1 transcript variant A	NM_001134647.1:c.-3+2358=	NM_001134647.1:c.-3+2358A>T	NM_001134647.1:c.-3+2358A>G	NM_001134647.1:c.-3+2358A>C
AFAP1 transcript variant A	NM_001134647.2:c.-3+2358=	NM_001134647.2:c.-3+2358A>T	NM_001134647.2:c.-3+2358A>G	NM_001134647.2:c.-3+2358A>C
AFAP1 transcript variant 4	NM_001371091.1:c.-781+2358=	NM_001371091.1:c.-781+2358A>T	NM_001371091.1:c.-781+2358A>G	NM_001371091.1:c.-781+2358A>C
AFAP1 transcript variant 2	NM_198595.2:c.-3+2358=	NM_198595.2:c.-3+2358A>T	NM_198595.2:c.-3+2358A>G	NM_198595.2:c.-3+2358A>C
AFAP1 transcript variant 2	NM_198595.3:c.-3+2358=	NM_198595.3:c.-3+2358A>T	NM_198595.3:c.-3+2358A>G	NM_198595.3:c.-3+2358A>C
AFAP1 transcript variant X3	XM_005247993.1:c.-3+2358=	XM_005247993.1:c.-3+2358A>T	XM_005247993.1:c.-3+2358A>G	XM_005247993.1:c.-3+2358A>C
AFAP1 transcript variant X3	XM_006713909.4:c.61+1294=	XM_006713909.4:c.61+1294A>T	XM_006713909.4:c.61+1294A>G	XM_006713909.4:c.61+1294A>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#.

56 SubSNP, 18 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	WI_SSAHASNP	ss6468887	Feb 20, 2003 (111)
2	HGSV	ss85871639	Dec 14, 2007 (130)
3	BGI	ss105803838	Feb 04, 2009 (130)
4	1000GENOMES	ss111748117	Jan 25, 2009 (130)
5	GMI	ss156830955	Dec 01, 2009 (131)
6	COMPLETE_GENOMICS	ss163065073	Jul 04, 2010 (132)
7	BUSHMAN	ss198000954	Jul 04, 2010 (132)
8	1000GENOMES	ss220729010	Jul 14, 2010 (132)
9	1000GENOMES	ss232249939	Jul 14, 2010 (132)
10	1000GENOMES	ss239573534	Jul 15, 2010 (132)
11	GMI	ss277564781	May 04, 2012 (137)
12	PJP	ss293134664	May 09, 2011 (134)
13	TISHKOFF	ss557294016	Apr 25, 2013 (138)
14	SSMP	ss651050308	Apr 25, 2013 (138)
15	EVA-GONL	ss979733959	Aug 21, 2014 (142)
16	JMKIDD_LAB	ss1071256178	Aug 21, 2014 (142)
17	1000GENOMES	ss1308320028	Aug 21, 2014 (142)
18	DDI	ss1429763025	Apr 01, 2015 (144)
19	EVA_GENOME_DK	ss1580403479	Apr 01, 2015 (144)
20	EVA_DECODE	ss1589228362	Apr 01, 2015 (144)
21	EVA_UK10K_ALSPAC	ss1609353028	Apr 01, 2015 (144)
22	EVA_UK10K_TWINSUK	ss1652347061	Apr 01, 2015 (144)
23	HAMMER_LAB	ss1800983444	Sep 08, 2015 (146)
24	WEILL_CORNELL_DGM	ss1922970899	Feb 12, 2016 (147)
25	GENOMED	ss1969651490	Sep 14, 2016 (149)
26	JJLAB	ss2022058106	Sep 14, 2016 (149)
27	USC_VALOUEV	ss2150168910	Dec 20, 2016 (150)
28	HUMAN_LONGEVITY	ss2260249898	Dec 20, 2016 (150)
29	SYSTEMSBIOZJU	ss2625530916	Nov 08, 2017 (151)
30	GRF	ss2705606544	Nov 08, 2017 (151)
31	GNOMAD	ss2805324948	Nov 08, 2017 (151)
32	SWEGEN	ss2994091211	Nov 08, 2017 (151)
33	BIOINF_KMB_FNS_UNIBA	ss3024799019	Nov 08, 2017 (151)
34	CSHL	ss3345529802	Nov 08, 2017 (151)
35	EGCUT_WGS	ss3662016968	Jul 13, 2019 (153)
36	EVA_DECODE	ss3711352292	Jul 13, 2019 (153)
37	ACPOP	ss3730829958	Jul 13, 2019 (153)
38	EVA	ss3761360434	Jul 13, 2019 (153)
39	KHV_HUMAN_GENOMES	ss3804498209	Jul 13, 2019 (153)
40	EVA	ss3828357450	Apr 25, 2020 (154)
41	SGDP_PRJ	ss3858155325	Apr 25, 2020 (154)
42	KRGDB	ss3904295783	Apr 25, 2020 (154)
43	KOGIC	ss3953476514	Apr 25, 2020 (154)
44	TOPMED	ss4601990531	Apr 26, 2021 (155)
45	TOMMO_GENOMICS	ss5164079139	Apr 26, 2021 (155)
46	1000G_HIGH_COVERAGE	ss5257948507	Oct 17, 2022 (156)
47	HUGCELL_USP	ss5456871545	Oct 17, 2022 (156)
48	EVA	ss5507380113	Oct 17, 2022 (156)
49	1000G_HIGH_COVERAGE	ss5538338028	Oct 17, 2022 (156)
50	SANFORD_IMAGENETICS	ss5634292779	Oct 17, 2022 (156)
51	TOMMO_GENOMICS	ss5697693907	Oct 17, 2022 (156)
52	YY_MCH	ss5804730820	Oct 17, 2022 (156)
53	EVA	ss5843514353	Oct 17, 2022 (156)
54	EVA	ss5854069521	Oct 17, 2022 (156)
55	EVA	ss5862043780	Oct 17, 2022 (156)
56	EVA	ss5962666969	Oct 17, 2022 (156)
57	1000Genomes	NC_000004.11 - 7939025	Oct 12, 2018 (152)
58	1000Genomes_30x	NC_000004.12 - 7937298	Oct 17, 2022 (156)
59	The Avon Longitudinal Study of Parents and Children	NC_000004.11 - 7939025	Oct 12, 2018 (152)
60	Genetic variation in the Estonian population	NC_000004.11 - 7939025	Oct 12, 2018 (152)
61	The Danish reference pan genome	NC_000004.11 - 7939025	Apr 25, 2020 (154)
62	gnomAD - Genomes	NC_000004.12 - 7937298	Apr 26, 2021 (155)
63	Genome of the Netherlands Release 5	NC_000004.11 - 7939025	Apr 25, 2020 (154)
64	KOREAN population from KRGDB	NC_000004.11 - 7939025	Apr 25, 2020 (154)
65	Korean Genome Project	NC_000004.12 - 7937298	Apr 25, 2020 (154)
66	Northern Sweden	NC_000004.11 - 7939025	Jul 13, 2019 (153)
67	Qatari	NC_000004.11 - 7939025	Apr 25, 2020 (154)
68	SGDP_PRJ	NC_000004.11 - 7939025	Apr 25, 2020 (154)
69	Siberian	NC_000004.11 - 7939025	Apr 25, 2020 (154)
70	8.3KJPN	NC_000004.11 - 7939025	Apr 26, 2021 (155)
71	14KJPN	NC_000004.12 - 7937298	Oct 17, 2022 (156)
72	TopMed	NC_000004.12 - 7937298	Apr 26, 2021 (155)
73	UK 10K study - Twins	NC_000004.11 - 7939025	Oct 12, 2018 (152)
74	ALFA	NC_000004.12 - 7937298	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)
rs57048066	May 23, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
11473177, ss3904295783	NC_000004.11:7939024:T:A	NC_000004.12:7937297:T:A	(self)
11366637521	NC_000004.12:7937297:T:A	NC_000004.12:7937297:T:A	(self)
ss85871639	NC_000004.9:8057095:T:C	NC_000004.12:7937297:T:C	(self)
ss111748117, ss163065073, ss198000954, ss277564781, ss293134664, ss1589228362	NC_000004.10:7989924:T:C	NC_000004.12:7937297:T:C	(self)
19665040, 10955584, 7755216, 6568418, 4816955, 11473177, 4114823, 5012829, 10172305, 2685264, 22048446, 10955584, ss220729010, ss232249939, ss239573534, ss557294016, ss651050308, ss979733959, ss1071256178, ss1308320028, ss1429763025, ss1580403479, ss1609353028, ss1652347061, ss1800983444, ss1922970899, ss1969651490, ss2022058106, ss2150168910, ss2625530916, ss2705606544, ss2805324948, ss2994091211, ss3345529802, ss3662016968, ss3730829958, ss3761360434, ss3828357450, ss3858155325, ss3904295783, ss5164079139, ss5507380113, ss5634292779, ss5843514353, ss5962666969	NC_000004.11:7939024:T:C	NC_000004.12:7937297:T:C	(self)
25863963, 139482730, 9854515, 31531011, 439368087, 11366637521, ss2260249898, ss3024799019, ss3711352292, ss3804498209, ss3953476514, ss4601990531, ss5257948507, ss5456871545, ss5538338028, ss5697693907, ss5804730820, ss5854069521, ss5862043780	NC_000004.12:7937297:T:C	NC_000004.12:7937297:T:C	(self)
ss6468887, ss105803838, ss156830955	NT_006051.18:6460378:T:C	NC_000004.12:7937297:T:C	(self)
11473177, ss3904295783	NC_000004.11:7939024:T:G	NC_000004.12:7937297:T: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 rs4696685

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

rs4696685