Name: rs202190769
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.

rs202190769

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr4:139126378-139126389 (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: delAA / delA / dupA
Variation Type: Indel Insertion and Deletion
Frequency: delA=0.1210 (1158/9572, ALFA)
delAA=0.0166 (64/3854, ALSPAC)
delAA=0.0565 (188/3326, 1000G)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: ELF2 : 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: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	Alt HMOZ	HTRZ	HWEP
Total	Global	9572	AAAAAAAAAAAA=0.8771	AAAAAAAAAA=0.0014, AAAAAAAAAAA=0.1210, AAAAAAAAAAAAA=0.0005	0.798446	0.040521	0.161033	32
European	Sub	8040	AAAAAAAAAAAA=0.8541	AAAAAAAAAA=0.0016, AAAAAAAAAAA=0.1437, AAAAAAAAAAAAA=0.0006	0.76032	0.048036	0.191644	32
African	Sub	764	AAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
African Others	Sub	26	AAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African American	Sub	738	AAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
Asian	Sub	52	AAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	42	AAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	10	AAAAAAAAAAAA=1.0	AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Latin American 1	Sub	72	AAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	374	AAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	32	AAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other	Sub	238	AAAAAAAAAAAA=0.987	AAAAAAAAAA=0.000, AAAAAAAAAAA=0.013, AAAAAAAAAAAAA=0.000	0.983193	0.008403	0.008403	28

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
Allele Frequency Aggregator	Total	Global	9572	(A)₁₂=0.8771	delAA=0.0014, delA=0.1210, dupA=0.0005
Allele Frequency Aggregator	European	Sub	8040	(A)₁₂=0.8541	delAA=0.0016, delA=0.1437, dupA=0.0006
Allele Frequency Aggregator	African	Sub	764	(A)₁₂=1.000	delAA=0.000, delA=0.000, dupA=0.000
Allele Frequency Aggregator	Latin American 2	Sub	374	(A)₁₂=1.000	delAA=0.000, delA=0.000, dupA=0.000
Allele Frequency Aggregator	Other	Sub	238	(A)₁₂=0.987	delAA=0.000, delA=0.013, dupA=0.000
Allele Frequency Aggregator	Latin American 1	Sub	72	(A)₁₂=1.00	delAA=0.00, delA=0.00, dupA=0.00
Allele Frequency Aggregator	Asian	Sub	52	(A)₁₂=1.00	delAA=0.00, delA=0.00, dupA=0.00
Allele Frequency Aggregator	South Asian	Sub	32	(A)₁₂=1.00	delAA=0.00, delA=0.00, dupA=0.00
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	(A)₁₂=0.9834	delAA=0.0166
1000Genomes	Global	Study-wide	3326	(A)₁₂=0.9435	delAA=0.0565
1000Genomes	East Asian	Sub	761	(A)₁₂=0.947	delAA=0.053
1000Genomes	African	Sub	734	(A)₁₂=0.832	delAA=0.168
1000Genomes	Europe	Sub	713	(A)₁₂=0.982	delAA=0.018
1000Genomes	South Asian	Sub	589	(A)₁₂=0.993	delAA=0.007
1000Genomes	American	Sub	529	(A)₁₂=0.985	delAA=0.015

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.139126388_139126389del
GRCh38.p14 chr 4	NC_000004.12:g.139126389del
GRCh38.p14 chr 4	NC_000004.12:g.139126389dup
GRCh37.p13 chr 4	NC_000004.11:g.140047542_140047543del
GRCh37.p13 chr 4	NC_000004.11:g.140047543del
GRCh37.p13 chr 4	NC_000004.11:g.140047543dup

Gene: ELF2, E74 like ETS transcription factor 2 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ELF2 transcript variant 6	NM_001331036.3:c.73-1050_… NM_001331036.3:c.73-1050_73-1049del	N/A	Intron Variant
ELF2 transcript variant 7	NM_001371324.1:c.73-1050_… NM_001371324.1:c.73-1050_73-1049del	N/A	Intron Variant
ELF2 transcript variant 8	NM_001371336.1:c.73-1050_… NM_001371336.1:c.73-1050_73-1049del	N/A	Intron Variant
ELF2 transcript variant 9	NM_001371337.1:c.-399-105… NM_001371337.1:c.-399-1050_-399-1049del	N/A	Intron Variant
ELF2 transcript variant 10	NM_001371338.1:c.-399-105… NM_001371338.1:c.-399-1050_-399-1049del	N/A	Intron Variant
ELF2 transcript variant 11	NM_001371339.1:c.-343-105… NM_001371339.1:c.-343-1050_-343-1049del	N/A	Intron Variant
ELF2 transcript variant 1	NM_201999.3:c.73-1050_73-… NM_201999.3:c.73-1050_73-1049del	N/A	Intron Variant
ELF2 transcript variant 3	NM_001276457.2:c.	N/A	Genic Upstream Transcript Variant
ELF2 transcript variant 4	NM_001276458.3:c.	N/A	Genic Upstream Transcript Variant
ELF2 transcript variant 5	NM_001276459.3:c.	N/A	Genic Upstream Transcript Variant
ELF2 transcript variant 2	NM_006874.5:c.	N/A	Genic Upstream Transcript Variant
ELF2 transcript variant X10	XM_005262805.3:c.73-1050_… XM_005262805.3:c.73-1050_73-1049del	N/A	Intron Variant
ELF2 transcript variant X1	XM_047449732.1:c.73-1050_… XM_047449732.1:c.73-1050_73-1049del	N/A	Intron Variant
ELF2 transcript variant X2	XM_047449733.1:c.73-1050_… XM_047449733.1:c.73-1050_73-1049del	N/A	Intron Variant
ELF2 transcript variant X3	XM_047449734.1:c.73-1050_… XM_047449734.1:c.73-1050_73-1049del	N/A	Intron Variant
ELF2 transcript variant X4	XM_047449736.1:c.73-1050_… XM_047449736.1:c.73-1050_73-1049del	N/A	Intron Variant
ELF2 transcript variant X5	XM_047449737.1:c.73-1050_… XM_047449737.1:c.73-1050_73-1049del	N/A	Intron Variant
ELF2 transcript variant X6	XM_047449738.1:c.73-1050_… XM_047449738.1:c.73-1050_73-1049del	N/A	Intron Variant
ELF2 transcript variant X7	XM_047449739.1:c.73-1050_… XM_047449739.1:c.73-1050_73-1049del	N/A	Intron Variant
ELF2 transcript variant X8	XM_047449740.1:c.73-1050_… XM_047449740.1:c.73-1050_73-1049del	N/A	Intron Variant
ELF2 transcript variant X9	XM_047449741.1:c.73-1050_… XM_047449741.1:c.73-1050_73-1049del	N/A	Intron Variant
ELF2 transcript variant X11	XM_011531711.3:c.	N/A	Genic Upstream Transcript Variant
ELF2 transcript variant X13	XM_011531714.3:c.	N/A	Genic Upstream Transcript Variant
ELF2 transcript variant X12	XM_047449742.1:c.	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)₁₂=	delAA	delA	dupA
GRCh38.p14 chr 4	NC_000004.12:g.139126378_139126389=	NC_000004.12:g.139126388_139126389del	NC_000004.12:g.139126389del	NC_000004.12:g.139126389dup
GRCh37.p13 chr 4	NC_000004.11:g.140047532_140047543=	NC_000004.11:g.140047542_140047543del	NC_000004.11:g.140047543del	NC_000004.11:g.140047543dup
ELF2 transcript variant 6	NM_001331036.3:c.73-1049=	NM_001331036.3:c.73-1050_73-1049del	NM_001331036.3:c.73-1049del	NM_001331036.3:c.73-1049dup
ELF2 transcript variant 7	NM_001371324.1:c.73-1049=	NM_001371324.1:c.73-1050_73-1049del	NM_001371324.1:c.73-1049del	NM_001371324.1:c.73-1049dup
ELF2 transcript variant 8	NM_001371336.1:c.73-1049=	NM_001371336.1:c.73-1050_73-1049del	NM_001371336.1:c.73-1049del	NM_001371336.1:c.73-1049dup
ELF2 transcript variant 9	NM_001371337.1:c.-399-1049=	NM_001371337.1:c.-399-1050_-399-1049del	NM_001371337.1:c.-399-1049del	NM_001371337.1:c.-399-1049dup
ELF2 transcript variant 10	NM_001371338.1:c.-399-1049=	NM_001371338.1:c.-399-1050_-399-1049del	NM_001371338.1:c.-399-1049del	NM_001371338.1:c.-399-1049dup
ELF2 transcript variant 11	NM_001371339.1:c.-343-1049=	NM_001371339.1:c.-343-1050_-343-1049del	NM_001371339.1:c.-343-1049del	NM_001371339.1:c.-343-1049dup
ELF2 transcript variant 1	NM_201999.2:c.73-1049=	NM_201999.2:c.73-1050_73-1049del	NM_201999.2:c.73-1049del	NM_201999.2:c.73-1049dup
ELF2 transcript variant 1	NM_201999.3:c.73-1049=	NM_201999.3:c.73-1050_73-1049del	NM_201999.3:c.73-1049del	NM_201999.3:c.73-1049dup
ELF2 transcript variant X1	XM_005262803.1:c.73-1049=	XM_005262803.1:c.73-1050_73-1049del	XM_005262803.1:c.73-1049del	XM_005262803.1:c.73-1049dup
ELF2 transcript variant X2	XM_005262804.1:c.73-1049=	XM_005262804.1:c.73-1050_73-1049del	XM_005262804.1:c.73-1049del	XM_005262804.1:c.73-1049dup
ELF2 transcript variant X4	XM_005262805.1:c.73-1049=	XM_005262805.1:c.73-1050_73-1049del	XM_005262805.1:c.73-1049del	XM_005262805.1:c.73-1049dup
ELF2 transcript variant X10	XM_005262805.3:c.73-1049=	XM_005262805.3:c.73-1050_73-1049del	XM_005262805.3:c.73-1049del	XM_005262805.3:c.73-1049dup
ELF2 transcript variant X1	XM_047449732.1:c.73-1049=	XM_047449732.1:c.73-1050_73-1049del	XM_047449732.1:c.73-1049del	XM_047449732.1:c.73-1049dup
ELF2 transcript variant X2	XM_047449733.1:c.73-1049=	XM_047449733.1:c.73-1050_73-1049del	XM_047449733.1:c.73-1049del	XM_047449733.1:c.73-1049dup
ELF2 transcript variant X3	XM_047449734.1:c.73-1049=	XM_047449734.1:c.73-1050_73-1049del	XM_047449734.1:c.73-1049del	XM_047449734.1:c.73-1049dup
ELF2 transcript variant X4	XM_047449736.1:c.73-1049=	XM_047449736.1:c.73-1050_73-1049del	XM_047449736.1:c.73-1049del	XM_047449736.1:c.73-1049dup
ELF2 transcript variant X5	XM_047449737.1:c.73-1049=	XM_047449737.1:c.73-1050_73-1049del	XM_047449737.1:c.73-1049del	XM_047449737.1:c.73-1049dup
ELF2 transcript variant X6	XM_047449738.1:c.73-1049=	XM_047449738.1:c.73-1050_73-1049del	XM_047449738.1:c.73-1049del	XM_047449738.1:c.73-1049dup
ELF2 transcript variant X7	XM_047449739.1:c.73-1049=	XM_047449739.1:c.73-1050_73-1049del	XM_047449739.1:c.73-1049del	XM_047449739.1:c.73-1049dup
ELF2 transcript variant X8	XM_047449740.1:c.73-1049=	XM_047449740.1:c.73-1050_73-1049del	XM_047449740.1:c.73-1049del	XM_047449740.1:c.73-1049dup
ELF2 transcript variant X9	XM_047449741.1:c.73-1049=	XM_047449741.1:c.73-1050_73-1049del	XM_047449741.1:c.73-1049del	XM_047449741.1:c.73-1049dup

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#.

45 SubSNP, 19 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	GMI	ss288583476	May 04, 2012 (137)
2	SSMP	ss663463103	Apr 01, 2015 (144)
3	1000GENOMES	ss1372863685	Aug 21, 2014 (142)
4	1000GENOMES	ss1372863688	Aug 21, 2014 (142)
5	DDI	ss1536431269	Apr 01, 2015 (144)
6	EVA_UK10K_ALSPAC	ss1704382526	Apr 01, 2015 (144)
7	EVA_UK10K_TWINSUK	ss1704385109	Apr 01, 2015 (144)
8	EVA_UK10K_TWINSUK	ss1710172269	Apr 01, 2015 (144)
9	EVA_UK10K_ALSPAC	ss1710172280	Apr 01, 2015 (144)
10	HAMMER_LAB	ss1802290616	Sep 08, 2015 (146)
11	HAMMER_LAB	ss1802290619	Sep 08, 2015 (146)
12	SYSTEMSBIOZJU	ss2625788316	Nov 08, 2017 (151)
13	SWEGEN	ss2995665419	Nov 08, 2017 (151)
14	MCHAISSO	ss3065978488	Nov 08, 2017 (151)
15	BIOINF_KMB_FNS_UNIBA	ss3645830738	Oct 12, 2018 (152)
16	EVA_DECODE	ss3713191635	Jul 13, 2019 (153)
17	EVA_DECODE	ss3713191636	Jul 13, 2019 (153)
18	EVA_DECODE	ss3713191637	Jul 13, 2019 (153)
19	ACPOP	ss3731668953	Jul 13, 2019 (153)
20	ACPOP	ss3731668954	Jul 13, 2019 (153)
21	KHV_HUMAN_GENOMES	ss3805654163	Jul 13, 2019 (153)
22	KHV_HUMAN_GENOMES	ss3805654164	Jul 13, 2019 (153)
23	EVA	ss3828844611	Apr 26, 2020 (154)
24	EVA	ss3843310826	Apr 26, 2020 (154)
25	KOGIC	ss3955245906	Apr 26, 2020 (154)
26	KOGIC	ss3955245907	Apr 26, 2020 (154)
27	KOGIC	ss3955245908	Apr 26, 2020 (154)
28	GNOMAD	ss4121579970	Apr 26, 2021 (155)
29	GNOMAD	ss4121579971	Apr 26, 2021 (155)
30	GNOMAD	ss4121579972	Apr 26, 2021 (155)
31	TOMMO_GENOMICS	ss5168305931	Apr 26, 2021 (155)
32	TOMMO_GENOMICS	ss5168305932	Apr 26, 2021 (155)
33	TOMMO_GENOMICS	ss5168305933	Apr 26, 2021 (155)
34	1000G_HIGH_COVERAGE	ss5261254991	Oct 17, 2022 (156)
35	1000G_HIGH_COVERAGE	ss5261254992	Oct 17, 2022 (156)
36	1000G_HIGH_COVERAGE	ss5261254993	Oct 17, 2022 (156)
37	HUGCELL_USP	ss5459788951	Oct 17, 2022 (156)
38	HUGCELL_USP	ss5459788952	Oct 17, 2022 (156)
39	HUGCELL_USP	ss5459788953	Oct 17, 2022 (156)
40	TOMMO_GENOMICS	ss5703379503	Oct 17, 2022 (156)
41	TOMMO_GENOMICS	ss5703379504	Oct 17, 2022 (156)
42	TOMMO_GENOMICS	ss5703379505	Oct 17, 2022 (156)
43	EVA	ss5844805754	Oct 17, 2022 (156)
44	EVA	ss5844805755	Oct 17, 2022 (156)
45	EVA	ss5854475282	Oct 17, 2022 (156)
46	1000Genomes	NC_000004.11 - 140047532	Oct 12, 2018 (152)
47	The Avon Longitudinal Study of Parents and Children	NC_000004.11 - 140047532	Oct 12, 2018 (152)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 166922166 (NC_000004.12:139126377::A 254/130146) Row 166922167 (NC_000004.12:139126377:A: 43734/129960) Row 166922168 (NC_000004.12:139126377:AA: 3995/130146)	-	Apr 26, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 166922166 (NC_000004.12:139126377::A 254/130146) Row 166922167 (NC_000004.12:139126377:A: 43734/129960) Row 166922168 (NC_000004.12:139126377:AA: 3995/130146)	-	Apr 26, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 166922166 (NC_000004.12:139126377::A 254/130146) Row 166922167 (NC_000004.12:139126377:A: 43734/129960) Row 166922168 (NC_000004.12:139126377:AA: 3995/130146)	-	Apr 26, 2021 (155)
51	Korean Genome Project Submission ignored due to conflicting rows: Row 11623907 (NC_000004.12:139126378:A: 452/1832) Row 11623908 (NC_000004.12:139126379::A 15/1832) Row 11623909 (NC_000004.12:139126377:AA: 66/1832)	-	Apr 26, 2020 (154)
52	Korean Genome Project Submission ignored due to conflicting rows: Row 11623907 (NC_000004.12:139126378:A: 452/1832) Row 11623908 (NC_000004.12:139126379::A 15/1832) Row 11623909 (NC_000004.12:139126377:AA: 66/1832)	-	Apr 26, 2020 (154)
53	Korean Genome Project Submission ignored due to conflicting rows: Row 11623907 (NC_000004.12:139126378:A: 452/1832) Row 11623908 (NC_000004.12:139126379::A 15/1832) Row 11623909 (NC_000004.12:139126377:AA: 66/1832)	-	Apr 26, 2020 (154)
54	Northern Sweden Submission ignored due to conflicting rows: Row 4953818 (NC_000004.11:140047531:A: 153/600) Row 4953819 (NC_000004.11:140047531:AA: 4/600)	-	Jul 13, 2019 (153)
55	Northern Sweden Submission ignored due to conflicting rows: Row 4953818 (NC_000004.11:140047531:A: 153/600) Row 4953819 (NC_000004.11:140047531:AA: 4/600)	-	Jul 13, 2019 (153)
56	8.3KJPN Submission ignored due to conflicting rows: Row 26275238 (NC_000004.11:140047531:A: 4199/16758) Row 26275239 (NC_000004.11:140047531:AA: 600/16758) Row 26275240 (NC_000004.11:140047531::A 1/16758)	-	Apr 26, 2021 (155)
57	8.3KJPN Submission ignored due to conflicting rows: Row 26275238 (NC_000004.11:140047531:A: 4199/16758) Row 26275239 (NC_000004.11:140047531:AA: 600/16758) Row 26275240 (NC_000004.11:140047531::A 1/16758)	-	Apr 26, 2021 (155)
58	8.3KJPN Submission ignored due to conflicting rows: Row 26275238 (NC_000004.11:140047531:A: 4199/16758) Row 26275239 (NC_000004.11:140047531:AA: 600/16758) Row 26275240 (NC_000004.11:140047531::A 1/16758)	-	Apr 26, 2021 (155)
59	14KJPN Submission ignored due to conflicting rows: Row 37216607 (NC_000004.12:139126377:A: 5984/27570) Row 37216608 (NC_000004.12:139126377:AA: 910/27570) Row 37216609 (NC_000004.12:139126377::A 3/27570)	-	Oct 17, 2022 (156)
60	14KJPN Submission ignored due to conflicting rows: Row 37216607 (NC_000004.12:139126377:A: 5984/27570) Row 37216608 (NC_000004.12:139126377:AA: 910/27570) Row 37216609 (NC_000004.12:139126377::A 3/27570)	-	Oct 17, 2022 (156)
61	14KJPN Submission ignored due to conflicting rows: Row 37216607 (NC_000004.12:139126377:A: 5984/27570) Row 37216608 (NC_000004.12:139126377:AA: 910/27570) Row 37216609 (NC_000004.12:139126377::A 3/27570)	-	Oct 17, 2022 (156)
62	UK 10K study - Twins Submission ignored due to conflicting rows: Row 13105332 (NC_000004.11:140047532:A: 1066/3708) Row 13105333 (NC_000004.11:140047531:AA: 47/3708)	-	Apr 26, 2020 (154)
63	UK 10K study - Twins	-	Oct 12, 2018 (152)
64	ALFA	NC_000004.12 - 139126378	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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
23566972, 13105333, ss1372863685, ss1704382526, ss1704385109, ss1802290619, ss2625788316, ss2995665419, ss3731668954, ss5168305932, ss5844805755	NC_000004.11:140047531:AA:	NC_000004.12:139126377:AAAAAAAAAAA… NC_000004.12:139126377:AAAAAAAAAAAA:AAAAAAAAAA	(self)
ss3065978488, ss3713191637, ss3805654164, ss3955245908, ss4121579972, ss5261254992, ss5459788953, ss5703379504	NC_000004.12:139126377:AA:	NC_000004.12:139126377:AAAAAAAAAAA… NC_000004.12:139126377:AAAAAAAAAAAA:AAAAAAAAAA	(self)
9466171820	NC_000004.12:139126377:AAAAAAAAAAA… NC_000004.12:139126377:AAAAAAAAAAAA:AAAAAAAAAA	NC_000004.12:139126377:AAAAAAAAAAA… NC_000004.12:139126377:AAAAAAAAAAAA:AAAAAAAAAA	(self)
ss288583476	NC_000004.10:140266981:A:	NC_000004.12:139126377:AAAAAAAAAAA… NC_000004.12:139126377:AAAAAAAAAAAA:AAAAAAAAAAA	(self)
ss663463103, ss1536431269, ss1802290616, ss3731668953, ss3828844611, ss5168305931, ss5844805754	NC_000004.11:140047531:A:	NC_000004.12:139126377:AAAAAAAAAAA… NC_000004.12:139126377:AAAAAAAAAAAA:AAAAAAAAAAA	(self)
ss1372863688, ss1710172269, ss1710172280	NC_000004.11:140047532:A:	NC_000004.12:139126377:AAAAAAAAAAA… NC_000004.12:139126377:AAAAAAAAAAAA:AAAAAAAAAAA	(self)
ss3645830738, ss3843310826, ss4121579971, ss5261254991, ss5459788951, ss5703379503, ss5854475282	NC_000004.12:139126377:A:	NC_000004.12:139126377:AAAAAAAAAAA… NC_000004.12:139126377:AAAAAAAAAAAA:AAAAAAAAAAA	(self)
9466171820	NC_000004.12:139126377:AAAAAAAAAAA… NC_000004.12:139126377:AAAAAAAAAAAA:AAAAAAAAAAA	NC_000004.12:139126377:AAAAAAAAAAA… NC_000004.12:139126377:AAAAAAAAAAAA:AAAAAAAAAAA	(self)
ss3713191636, ss3805654163, ss3955245906	NC_000004.12:139126378:A:	NC_000004.12:139126377:AAAAAAAAAAA… NC_000004.12:139126377:AAAAAAAAAAAA:AAAAAAAAAAA	(self)
ss5168305933	NC_000004.11:140047531::A	NC_000004.12:139126377:AAAAAAAAAAA… NC_000004.12:139126377:AAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss4121579970, ss5261254993, ss5459788952, ss5703379505	NC_000004.12:139126377::A	NC_000004.12:139126377:AAAAAAAAAAA… NC_000004.12:139126377:AAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
9466171820	NC_000004.12:139126377:AAAAAAAAAAA… NC_000004.12:139126377:AAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000004.12:139126377:AAAAAAAAAAA… NC_000004.12:139126377:AAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss3713191635, ss3955245907	NC_000004.12:139126379::A	NC_000004.12:139126377:AAAAAAAAAAA… NC_000004.12:139126377:AAAAAAAAAAAA:AAAAAAAAAAAAA	(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 rs202190769

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

rs202190769