Name: rs70943433
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.

rs70943433

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr4:139619529-139619558 (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: del(AAT)₅ / del(AAT)₄ / del(AAT)₃ …
del(AAT)₅ / del(AAT)₄ / del(AAT)₃ / del(AAT)₂ / delAAT / dupAAT / dup(AAT)₂
Variation Type: Indel Insertion and Deletion
Frequency: del(AAT)₂=0.2294 (1030/4490, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: QKILA : 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	4490	AATAATAATAATAATAATAATAATAATAAT=0.0552	AATAATAATAATAAT=0.0000, AATAATAATAATAATAAT=0.0000, AATAATAATAATAATAATAAT=0.0421, AATAATAATAATAATAATAATAAT=0.2294, AATAATAATAATAATAATAATAATAAT=0.6726, AATAATAATAATAATAATAATAATAATAATAAT=0.0007, AATAATAATAATAATAATAATAATAATAATAATAAT=0.0000	0.073064	0.563795	0.363141	2
European	Sub	4470	AATAATAATAATAATAATAATAATAATAAT=0.0521	AATAATAATAATAAT=0.0000, AATAATAATAATAATAAT=0.0000, AATAATAATAATAATAATAAT=0.0421, AATAATAATAATAATAATAATAAT=0.2302, AATAATAATAATAATAATAATAATAAT=0.6749, AATAATAATAATAATAATAATAATAATAATAAT=0.0007, AATAATAATAATAATAATAATAATAATAATAATAAT=0.0000	0.073104	0.564103	0.362793	2
African	Sub	12	AATAATAATAATAATAATAATAATAATAAT=1.00	AATAATAATAATAAT=0.00, AATAATAATAATAATAAT=0.00, AATAATAATAATAATAATAAT=0.00, AATAATAATAATAATAATAATAAT=0.00, AATAATAATAATAATAATAATAATAAT=0.00, AATAATAATAATAATAATAATAATAATAATAAT=0.00, AATAATAATAATAATAATAATAATAATAATAATAAT=0.00	0	0	0	N/A
African Others	Sub	0	AATAATAATAATAATAATAATAATAATAAT=0	AATAATAATAATAAT=0, AATAATAATAATAATAAT=0, AATAATAATAATAATAATAAT=0, AATAATAATAATAATAATAATAAT=0, AATAATAATAATAATAATAATAATAAT=0, AATAATAATAATAATAATAATAATAATAATAAT=0, AATAATAATAATAATAATAATAATAATAATAATAAT=0	0	0	0	N/A
African American	Sub	12	AATAATAATAATAATAATAATAATAATAAT=1.00	AATAATAATAATAAT=0.00, AATAATAATAATAATAAT=0.00, AATAATAATAATAATAATAAT=0.00, AATAATAATAATAATAATAATAAT=0.00, AATAATAATAATAATAATAATAATAAT=0.00, AATAATAATAATAATAATAATAATAATAATAAT=0.00, AATAATAATAATAATAATAATAATAATAATAATAAT=0.00	0	0	0	N/A
Asian	Sub	0	AATAATAATAATAATAATAATAATAATAAT=0	AATAATAATAATAAT=0, AATAATAATAATAATAAT=0, AATAATAATAATAATAATAAT=0, AATAATAATAATAATAATAATAAT=0, AATAATAATAATAATAATAATAATAAT=0, AATAATAATAATAATAATAATAATAATAATAAT=0, AATAATAATAATAATAATAATAATAATAATAATAAT=0	0	0	0	N/A
East Asian	Sub	0	AATAATAATAATAATAATAATAATAATAAT=0	AATAATAATAATAAT=0, AATAATAATAATAATAAT=0, AATAATAATAATAATAATAAT=0, AATAATAATAATAATAATAATAAT=0, AATAATAATAATAATAATAATAATAAT=0, AATAATAATAATAATAATAATAATAATAATAAT=0, AATAATAATAATAATAATAATAATAATAATAATAAT=0	0	0	0	N/A
Other Asian	Sub	0	AATAATAATAATAATAATAATAATAATAAT=0	AATAATAATAATAAT=0, AATAATAATAATAATAAT=0, AATAATAATAATAATAATAAT=0, AATAATAATAATAATAATAATAAT=0, AATAATAATAATAATAATAATAATAAT=0, AATAATAATAATAATAATAATAATAATAATAAT=0, AATAATAATAATAATAATAATAATAATAATAATAAT=0	0	0	0	N/A
Latin American 1	Sub	0	AATAATAATAATAATAATAATAATAATAAT=0	AATAATAATAATAAT=0, AATAATAATAATAATAAT=0, AATAATAATAATAATAATAAT=0, AATAATAATAATAATAATAATAAT=0, AATAATAATAATAATAATAATAATAAT=0, AATAATAATAATAATAATAATAATAATAATAAT=0, AATAATAATAATAATAATAATAATAATAATAATAAT=0	0	0	0	N/A
Latin American 2	Sub	0	AATAATAATAATAATAATAATAATAATAAT=0	AATAATAATAATAAT=0, AATAATAATAATAATAAT=0, AATAATAATAATAATAATAAT=0, AATAATAATAATAATAATAATAAT=0, AATAATAATAATAATAATAATAATAAT=0, AATAATAATAATAATAATAATAATAATAATAAT=0, AATAATAATAATAATAATAATAATAATAATAATAAT=0	0	0	0	N/A
South Asian	Sub	0	AATAATAATAATAATAATAATAATAATAAT=0	AATAATAATAATAAT=0, AATAATAATAATAATAAT=0, AATAATAATAATAATAATAAT=0, AATAATAATAATAATAATAATAAT=0, AATAATAATAATAATAATAATAATAAT=0, AATAATAATAATAATAATAATAATAATAATAAT=0, AATAATAATAATAATAATAATAATAATAATAATAAT=0	0	0	0	N/A
Other	Sub	8	AATAATAATAATAATAATAATAATAATAAT=0.4	AATAATAATAATAAT=0.0, AATAATAATAATAATAAT=0.0, AATAATAATAATAATAATAAT=0.1, AATAATAATAATAATAATAATAAT=0.1, AATAATAATAATAATAATAATAATAAT=0.4, AATAATAATAATAATAATAATAATAATAATAAT=0.0, AATAATAATAATAATAATAATAATAATAATAATAAT=0.0	0.0	0.0	1.0	1

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	4490	(AAT)₁₀=0.0552	del(AAT)₅=0.0000, del(AAT)₄=0.0000, del(AAT)₃=0.0421, del(AAT)₂=0.2294, delAAT=0.6726, dupAAT=0.0007, dup(AAT)₂=0.0000
Allele Frequency Aggregator	European	Sub	4470	(AAT)₁₀=0.0521	del(AAT)₅=0.0000, del(AAT)₄=0.0000, del(AAT)₃=0.0421, del(AAT)₂=0.2302, delAAT=0.6749, dupAAT=0.0007, dup(AAT)₂=0.0000
Allele Frequency Aggregator	African	Sub	12	(AAT)₁₀=1.00	del(AAT)₅=0.00, del(AAT)₄=0.00, del(AAT)₃=0.00, del(AAT)₂=0.00, delAAT=0.00, dupAAT=0.00, dup(AAT)₂=0.00
Allele Frequency Aggregator	Other	Sub	8	(AAT)₁₀=0.4	del(AAT)₅=0.0, del(AAT)₄=0.0, del(AAT)₃=0.1, del(AAT)₂=0.1, delAAT=0.4, dupAAT=0.0, dup(AAT)₂=0.0
Allele Frequency Aggregator	Latin American 1	Sub	0	(AAT)₁₀=0	del(AAT)₅=0, del(AAT)₄=0, del(AAT)₃=0, del(AAT)₂=0, delAAT=0, dupAAT=0, dup(AAT)₂=0
Allele Frequency Aggregator	Latin American 2	Sub	0	(AAT)₁₀=0	del(AAT)₅=0, del(AAT)₄=0, del(AAT)₃=0, del(AAT)₂=0, delAAT=0, dupAAT=0, dup(AAT)₂=0
Allele Frequency Aggregator	South Asian	Sub	0	(AAT)₁₀=0	del(AAT)₅=0, del(AAT)₄=0, del(AAT)₃=0, del(AAT)₂=0, delAAT=0, dupAAT=0, dup(AAT)₂=0
Allele Frequency Aggregator	Asian	Sub	0	(AAT)₁₀=0	del(AAT)₅=0, del(AAT)₄=0, del(AAT)₃=0, del(AAT)₂=0, delAAT=0, dupAAT=0, dup(AAT)₂=0

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.139619529AAT[5]
GRCh38.p14 chr 4	NC_000004.12:g.139619529AAT[6]
GRCh38.p14 chr 4	NC_000004.12:g.139619529AAT[7]
GRCh38.p14 chr 4	NC_000004.12:g.139619529AAT[8]
GRCh38.p14 chr 4	NC_000004.12:g.139619529AAT[9]
GRCh38.p14 chr 4	NC_000004.12:g.139619529AAT[11]
GRCh38.p14 chr 4	NC_000004.12:g.139619529AAT[12]
GRCh37.p13 chr 4	NC_000004.11:g.140540683AAT[5]
GRCh37.p13 chr 4	NC_000004.11:g.140540683AAT[6]
GRCh37.p13 chr 4	NC_000004.11:g.140540683AAT[7]
GRCh37.p13 chr 4	NC_000004.11:g.140540683AAT[8]
GRCh37.p13 chr 4	NC_000004.11:g.140540683AAT[9]
GRCh37.p13 chr 4	NC_000004.11:g.140540683AAT[11]
GRCh37.p13 chr 4	NC_000004.11:g.140540683AAT[12]

Gene: QKILA, uncharacterized QKILA (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
QKILA transcript	XR_939252.3:n.	N/A	Intron 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	(AAT)₁₀=	del(AAT)₅	del(AAT)₄	del(AAT)₃	del(AAT)₂	delAAT	dupAAT	dup(AAT)₂
GRCh38.p14 chr 4	NC_000004.12:g.139619529_139619558=	NC_000004.12:g.139619529AAT[5]	NC_000004.12:g.139619529AAT[6]	NC_000004.12:g.139619529AAT[7]	NC_000004.12:g.139619529AAT[8]	NC_000004.12:g.139619529AAT[9]	NC_000004.12:g.139619529AAT[11]	NC_000004.12:g.139619529AAT[12]
GRCh37.p13 chr 4	NC_000004.11:g.140540683_140540712=	NC_000004.11:g.140540683AAT[5]	NC_000004.11:g.140540683AAT[6]	NC_000004.11:g.140540683AAT[7]	NC_000004.11:g.140540683AAT[8]	NC_000004.11:g.140540683AAT[9]	NC_000004.11:g.140540683AAT[11]	NC_000004.11:g.140540683AAT[12]

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#.

63 SubSNP, 25 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HUMANGENOME_JCVI	ss95371377	Dec 05, 2013 (138)
2	GMI	ss288583652	May 04, 2012 (137)
3	GMI	ss288583653	May 04, 2012 (137)
4	PJP	ss295191075	May 09, 2011 (135)
5	1000GENOMES	ss326583312	May 09, 2011 (137)
6	1000GENOMES	ss326619031	May 09, 2011 (137)
7	1000GENOMES	ss326803952	May 09, 2011 (134)
8	LUNTER	ss551423322	Apr 25, 2013 (138)
9	LUNTER	ss551557502	Apr 25, 2013 (138)
10	LUNTER	ss553166536	Apr 25, 2013 (138)
11	DDI	ss1536431393	Apr 01, 2015 (144)
12	EVA_UK10K_ALSPAC	ss1704383907	Apr 01, 2015 (144)
13	EVA_UK10K_TWINSUK	ss1704386625	Apr 01, 2015 (144)
14	EVA_UK10K_TWINSUK	ss1710172484	Apr 01, 2015 (144)
15	EVA_UK10K_TWINSUK	ss1710172486	Apr 01, 2015 (144)
16	EVA_UK10K_ALSPAC	ss1710172487	Apr 01, 2015 (144)
17	EVA_UK10K_ALSPAC	ss1710172490	Apr 01, 2015 (144)
18	SWEGEN	ss2995670787	Nov 08, 2017 (151)
19	MCHAISSO	ss3064126132	Nov 08, 2017 (151)
20	MCHAISSO	ss3064994191	Nov 08, 2017 (151)
21	MCHAISSO	ss3065978622	Nov 08, 2017 (151)
22	URBANLAB	ss3647865526	Oct 12, 2018 (152)
23	URBANLAB	ss3647865527	Oct 12, 2018 (152)
24	EVA_DECODE	ss3713198242	Jul 13, 2019 (153)
25	EVA_DECODE	ss3713198243	Jul 13, 2019 (153)
26	EVA_DECODE	ss3713198244	Jul 13, 2019 (153)
27	EVA_DECODE	ss3713198245	Jul 13, 2019 (153)
28	ACPOP	ss3731671871	Jul 13, 2019 (153)
29	ACPOP	ss3731671872	Jul 13, 2019 (153)
30	ACPOP	ss3731671873	Jul 13, 2019 (153)
31	PACBIO	ss3784881808	Jul 13, 2019 (153)
32	PACBIO	ss3784881809	Jul 13, 2019 (153)
33	PACBIO	ss3790315252	Jul 13, 2019 (153)
34	PACBIO	ss3790315253	Jul 13, 2019 (153)
35	PACBIO	ss3795190780	Jul 13, 2019 (153)
36	PACBIO	ss3795190781	Jul 13, 2019 (153)
37	KHV_HUMAN_GENOMES	ss3805658087	Jul 13, 2019 (153)
38	KHV_HUMAN_GENOMES	ss3805658088	Jul 13, 2019 (153)
39	EVA	ss3828846304	Apr 26, 2020 (154)
40	GNOMAD	ss4121641541	Apr 26, 2021 (155)
41	GNOMAD	ss4121641542	Apr 26, 2021 (155)
42	GNOMAD	ss4121641543	Apr 26, 2021 (155)
43	GNOMAD	ss4121641544	Apr 26, 2021 (155)
44	GNOMAD	ss4121641545	Apr 26, 2021 (155)
45	GNOMAD	ss4121641546	Apr 26, 2021 (155)
46	TOMMO_GENOMICS	ss5168321715	Apr 26, 2021 (155)
47	TOMMO_GENOMICS	ss5168321716	Apr 26, 2021 (155)
48	TOMMO_GENOMICS	ss5168321717	Apr 26, 2021 (155)
49	TOMMO_GENOMICS	ss5168321718	Apr 26, 2021 (155)
50	1000G_HIGH_COVERAGE	ss5261266976	Oct 13, 2022 (156)
51	1000G_HIGH_COVERAGE	ss5261266977	Oct 13, 2022 (156)
52	1000G_HIGH_COVERAGE	ss5261266978	Oct 13, 2022 (156)
53	1000G_HIGH_COVERAGE	ss5261266979	Oct 13, 2022 (156)
54	HUGCELL_USP	ss5459800019	Oct 13, 2022 (156)
55	HUGCELL_USP	ss5459800020	Oct 13, 2022 (156)
56	HUGCELL_USP	ss5459800021	Oct 13, 2022 (156)
57	TOMMO_GENOMICS	ss5703400296	Oct 13, 2022 (156)
58	TOMMO_GENOMICS	ss5703400297	Oct 13, 2022 (156)
59	TOMMO_GENOMICS	ss5703400298	Oct 13, 2022 (156)
60	TOMMO_GENOMICS	ss5703400299	Oct 13, 2022 (156)
61	EVA	ss5844810255	Oct 13, 2022 (156)
62	EVA	ss5844810256	Oct 13, 2022 (156)
63	EVA	ss5844810257	Oct 13, 2022 (156)
64	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 13112838 (NC_000004.11:140540685:AAT: 851/3854) Row 13112840 (NC_000004.11:140540682:AATAATAAT: 241/3854)	-	Oct 12, 2018 (152)
65	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 13112838 (NC_000004.11:140540685:AAT: 851/3854) Row 13112840 (NC_000004.11:140540682:AATAATAAT: 241/3854)	-	Oct 12, 2018 (152)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 167022978 (NC_000004.12:139619528::AAT 220/134814) Row 167022979 (NC_000004.12:139619528::AATAAT 4/134816) Row 167022980 (NC_000004.12:139619528:AAT: 89590/134508)...	-	Apr 26, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 167022978 (NC_000004.12:139619528::AAT 220/134814) Row 167022979 (NC_000004.12:139619528::AATAAT 4/134816) Row 167022980 (NC_000004.12:139619528:AAT: 89590/134508)...	-	Apr 26, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 167022978 (NC_000004.12:139619528::AAT 220/134814) Row 167022979 (NC_000004.12:139619528::AATAAT 4/134816) Row 167022980 (NC_000004.12:139619528:AAT: 89590/134508)...	-	Apr 26, 2021 (155)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 167022978 (NC_000004.12:139619528::AAT 220/134814) Row 167022979 (NC_000004.12:139619528::AATAAT 4/134816) Row 167022980 (NC_000004.12:139619528:AAT: 89590/134508)...	-	Apr 26, 2021 (155)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 167022978 (NC_000004.12:139619528::AAT 220/134814) Row 167022979 (NC_000004.12:139619528::AATAAT 4/134816) Row 167022980 (NC_000004.12:139619528:AAT: 89590/134508)...	-	Apr 26, 2021 (155)
71	gnomAD - Genomes Submission ignored due to conflicting rows: Row 167022978 (NC_000004.12:139619528::AAT 220/134814) Row 167022979 (NC_000004.12:139619528::AATAAT 4/134816) Row 167022980 (NC_000004.12:139619528:AAT: 89590/134508)...	-	Apr 26, 2021 (155)
72	Northern Sweden Submission ignored due to conflicting rows: Row 4956736 (NC_000004.11:140540682:AAT: 438/600) Row 4956737 (NC_000004.11:140540682:AATAAT: 83/600) Row 4956738 (NC_000004.11:140540682:AATAATAAT: 55/600)	-	Jul 13, 2019 (153)
73	Northern Sweden Submission ignored due to conflicting rows: Row 4956736 (NC_000004.11:140540682:AAT: 438/600) Row 4956737 (NC_000004.11:140540682:AATAAT: 83/600) Row 4956738 (NC_000004.11:140540682:AATAATAAT: 55/600)	-	Jul 13, 2019 (153)
74	Northern Sweden Submission ignored due to conflicting rows: Row 4956736 (NC_000004.11:140540682:AAT: 438/600) Row 4956737 (NC_000004.11:140540682:AATAAT: 83/600) Row 4956738 (NC_000004.11:140540682:AATAATAAT: 55/600)	-	Jul 13, 2019 (153)
75	8.3KJPN Submission ignored due to conflicting rows: Row 26291022 (NC_000004.11:140540682:AATAAT: 5184/16760) Row 26291023 (NC_000004.11:140540682:AAT: 11518/16760) Row 26291024 (NC_000004.11:140540682:AATAATAAT: 9/16760)...	-	Apr 26, 2021 (155)
76	8.3KJPN Submission ignored due to conflicting rows: Row 26291022 (NC_000004.11:140540682:AATAAT: 5184/16760) Row 26291023 (NC_000004.11:140540682:AAT: 11518/16760) Row 26291024 (NC_000004.11:140540682:AATAATAAT: 9/16760)...	-	Apr 26, 2021 (155)
77	8.3KJPN Submission ignored due to conflicting rows: Row 26291022 (NC_000004.11:140540682:AATAAT: 5184/16760) Row 26291023 (NC_000004.11:140540682:AAT: 11518/16760) Row 26291024 (NC_000004.11:140540682:AATAATAAT: 9/16760)...	-	Apr 26, 2021 (155)
78	8.3KJPN Submission ignored due to conflicting rows: Row 26291022 (NC_000004.11:140540682:AATAAT: 5184/16760) Row 26291023 (NC_000004.11:140540682:AAT: 11518/16760) Row 26291024 (NC_000004.11:140540682:AATAATAAT: 9/16760)...	-	Apr 26, 2021 (155)
79	14KJPN Submission ignored due to conflicting rows: Row 37237400 (NC_000004.12:139619528:AAT: 19485/28258) Row 37237401 (NC_000004.12:139619528:AATAAT: 8694/28258) Row 37237402 (NC_000004.12:139619528:AATAATAAT: 12/28258)...	-	Oct 13, 2022 (156)
80	14KJPN Submission ignored due to conflicting rows: Row 37237400 (NC_000004.12:139619528:AAT: 19485/28258) Row 37237401 (NC_000004.12:139619528:AATAAT: 8694/28258) Row 37237402 (NC_000004.12:139619528:AATAATAAT: 12/28258)...	-	Oct 13, 2022 (156)
81	14KJPN Submission ignored due to conflicting rows: Row 37237400 (NC_000004.12:139619528:AAT: 19485/28258) Row 37237401 (NC_000004.12:139619528:AATAAT: 8694/28258) Row 37237402 (NC_000004.12:139619528:AATAATAAT: 12/28258)...	-	Oct 13, 2022 (156)
82	14KJPN Submission ignored due to conflicting rows: Row 37237400 (NC_000004.12:139619528:AAT: 19485/28258) Row 37237401 (NC_000004.12:139619528:AATAAT: 8694/28258) Row 37237402 (NC_000004.12:139619528:AATAATAAT: 12/28258)...	-	Oct 13, 2022 (156)
83	UK 10K study - Twins Submission ignored due to conflicting rows: Row 13112838 (NC_000004.11:140540685:AAT: 771/3708) Row 13112840 (NC_000004.11:140540682:AATAATAAT: 208/3708)	-	Oct 12, 2018 (152)
84	UK 10K study - Twins Submission ignored due to conflicting rows: Row 13112838 (NC_000004.11:140540685:AATAAT: 771/3708) Row 13112839 (NC_000004.11:140540688:AAT: 2651/3708) Row 13112840 (NC_000004.11:140540682:AATAATAAT: 208/3708)	-	Apr 26, 2020 (154)
85	UK 10K study - Twins Submission ignored due to conflicting rows: Row 13112838 (NC_000004.11:140540685:AAT: 771/3708) Row 13112840 (NC_000004.11:140540682:AATAATAAT: 208/3708)	-	Oct 12, 2018 (152)
86	A Vietnamese Genetic Variation Database Submission ignored due to conflicting rows: Row 2893829 (NC_000004.11:140540682:AAT: 140/142) Row 2893830 (NC_000004.11:140540682:AATAAT: 72/74)	-	Jul 13, 2019 (153)
87	A Vietnamese Genetic Variation Database Submission ignored due to conflicting rows: Row 2893829 (NC_000004.11:140540682:AAT: 140/142) Row 2893830 (NC_000004.11:140540682:AATAAT: 72/74)	-	Jul 13, 2019 (153)
88	ALFA	NC_000004.12 - 139619529	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)
rs139354832	May 11, 2012 (137)
rs151328937	Sep 17, 2011 (135)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
9123282387	NC_000004.12:139619528:AATAATAATAA… NC_000004.12:139619528:AATAATAATAATAATAATAATAATAATAAT:AATAATAATAATAAT	NC_000004.12:139619528:AATAATAATAA… NC_000004.12:139619528:AATAATAATAATAATAATAATAATAATAAT:AATAATAATAATAAT	(self)
ss5168321718	NC_000004.11:140540682:AATAATAATAA… NC_000004.11:140540682:AATAATAATAAT:	NC_000004.12:139619528:AATAATAATAA… NC_000004.12:139619528:AATAATAATAATAATAATAATAATAATAAT:AATAATAATAATAATAAT	(self)
ss3713198245, ss4121641546, ss5703400299	NC_000004.12:139619528:AATAATAATAA… NC_000004.12:139619528:AATAATAATAAT:	NC_000004.12:139619528:AATAATAATAA… NC_000004.12:139619528:AATAATAATAATAATAATAATAATAATAAT:AATAATAATAATAATAAT	(self)
9123282387	NC_000004.12:139619528:AATAATAATAA… NC_000004.12:139619528:AATAATAATAATAATAATAATAATAATAAT:AATAATAATAATAATAAT	NC_000004.12:139619528:AATAATAATAA… NC_000004.12:139619528:AATAATAATAATAATAATAATAATAATAAT:AATAATAATAATAATAAT	(self)
ss1704383907, ss1704386625, ss2995670787, ss3731671873, ss5168321717, ss5844810257	NC_000004.11:140540682:AATAATAAT:	NC_000004.12:139619528:AATAATAATAA… NC_000004.12:139619528:AATAATAATAATAATAATAATAATAATAAT:AATAATAATAATAATAATAAT	(self)
ss4121641545, ss5261266978, ss5459800021, ss5703400298	NC_000004.12:139619528:AATAATAAT:	NC_000004.12:139619528:AATAATAATAA… NC_000004.12:139619528:AATAATAATAATAATAATAATAATAATAAT:AATAATAATAATAATAATAAT	(self)
9123282387	NC_000004.12:139619528:AATAATAATAA… NC_000004.12:139619528:AATAATAATAATAATAATAATAATAATAAT:AATAATAATAATAATAATAAT	NC_000004.12:139619528:AATAATAATAA… NC_000004.12:139619528:AATAATAATAATAATAATAATAATAATAAT:AATAATAATAATAATAATAAT	(self)
ss3713198244	NC_000004.12:139619531:AATAATAAT:	NC_000004.12:139619528:AATAATAATAA… NC_000004.12:139619528:AATAATAATAATAATAATAATAATAATAAT:AATAATAATAATAATAATAAT	(self)
ss288583652, ss326803952	NC_000004.10:140760132:AATAAT:	NC_000004.12:139619528:AATAATAATAA… NC_000004.12:139619528:AATAATAATAATAATAATAATAATAATAAT:AATAATAATAATAATAATAATAAT	(self)
ss3731671872, ss3784881808, ss3790315252, ss3795190780, ss5168321715, ss5844810256	NC_000004.11:140540682:AATAAT:	NC_000004.12:139619528:AATAATAATAA… NC_000004.12:139619528:AATAATAATAATAATAATAATAATAATAAT:AATAATAATAATAATAATAATAAT	(self)
ss1710172484, ss1710172487	NC_000004.11:140540685:AATAAT:	NC_000004.12:139619528:AATAATAATAA… NC_000004.12:139619528:AATAATAATAATAATAATAATAATAATAAT:AATAATAATAATAATAATAATAAT	(self)
ss3805658088, ss4121641544, ss5261266977, ss5459800019, ss5703400297	NC_000004.12:139619528:AATAAT:	NC_000004.12:139619528:AATAATAATAA… NC_000004.12:139619528:AATAATAATAATAATAATAATAATAATAAT:AATAATAATAATAATAATAATAAT	(self)
9123282387	NC_000004.12:139619528:AATAATAATAA… NC_000004.12:139619528:AATAATAATAATAATAATAATAATAATAAT:AATAATAATAATAATAATAATAAT	NC_000004.12:139619528:AATAATAATAA… NC_000004.12:139619528:AATAATAATAATAATAATAATAATAATAAT:AATAATAATAATAATAATAATAAT	(self)
ss3713198243	NC_000004.12:139619534:AATAAT:	NC_000004.12:139619528:AATAATAATAA… NC_000004.12:139619528:AATAATAATAATAATAATAATAATAATAAT:AATAATAATAATAATAATAATAAT	(self)
ss3647865527	NC_000004.12:139619552:AATAAT:	NC_000004.12:139619528:AATAATAATAA… NC_000004.12:139619528:AATAATAATAATAATAATAATAATAATAAT:AATAATAATAATAATAATAATAAT	(self)
ss288583653, ss326583312, ss326619031, ss551423322, ss551557502, ss553166536	NC_000004.10:140760132:AAT:	NC_000004.12:139619528:AATAATAATAA… NC_000004.12:139619528:AATAATAATAATAATAATAATAATAATAAT:AATAATAATAATAATAATAATAATAAT	(self)
ss295191075	NC_000004.10:140760159:AAT:	NC_000004.12:139619528:AATAATAATAA… NC_000004.12:139619528:AATAATAATAATAATAATAATAATAATAAT:AATAATAATAATAATAATAATAATAAT	(self)
ss1536431393, ss3731671871, ss3784881809, ss3790315253, ss3795190781, ss3828846304, ss5168321716, ss5844810255	NC_000004.11:140540682:AAT:	NC_000004.12:139619528:AATAATAATAA… NC_000004.12:139619528:AATAATAATAATAATAATAATAATAATAAT:AATAATAATAATAATAATAATAATAAT	(self)
	NC_000004.11:140540685:AAT:	NC_000004.12:139619528:AATAATAATAA… NC_000004.12:139619528:AATAATAATAATAATAATAATAATAATAAT:AATAATAATAATAATAATAATAATAAT	(self)
ss1710172486, ss1710172490	NC_000004.11:140540688:AAT:	NC_000004.12:139619528:AATAATAATAA… NC_000004.12:139619528:AATAATAATAATAATAATAATAATAATAAT:AATAATAATAATAATAATAATAATAAT	(self)
ss3064126132, ss3064994191, ss3065978622, ss4121641543, ss5261266976, ss5459800020, ss5703400296	NC_000004.12:139619528:AAT:	NC_000004.12:139619528:AATAATAATAA… NC_000004.12:139619528:AATAATAATAATAATAATAATAATAATAAT:AATAATAATAATAATAATAATAATAAT	(self)
9123282387	NC_000004.12:139619528:AATAATAATAA… NC_000004.12:139619528:AATAATAATAATAATAATAATAATAATAAT:AATAATAATAATAATAATAATAATAAT	NC_000004.12:139619528:AATAATAATAA… NC_000004.12:139619528:AATAATAATAATAATAATAATAATAATAAT:AATAATAATAATAATAATAATAATAAT	(self)
ss3805658087	NC_000004.12:139619531:AAT:	NC_000004.12:139619528:AATAATAATAA… NC_000004.12:139619528:AATAATAATAATAATAATAATAATAATAAT:AATAATAATAATAATAATAATAATAAT	(self)
ss3713198242	NC_000004.12:139619537:AAT:	NC_000004.12:139619528:AATAATAATAA… NC_000004.12:139619528:AATAATAATAATAATAATAATAATAATAAT:AATAATAATAATAATAATAATAATAAT	(self)
ss3647865526	NC_000004.12:139619549:AAT:	NC_000004.12:139619528:AATAATAATAA… NC_000004.12:139619528:AATAATAATAATAATAATAATAATAATAAT:AATAATAATAATAATAATAATAATAAT	(self)
ss95371377	NT_016354.19:65088430:AAT:	NC_000004.12:139619528:AATAATAATAA… NC_000004.12:139619528:AATAATAATAATAATAATAATAATAATAAT:AATAATAATAATAATAATAATAATAAT	(self)
ss4121641541, ss5261266979	NC_000004.12:139619528::AAT	NC_000004.12:139619528:AATAATAATAA… NC_000004.12:139619528:AATAATAATAATAATAATAATAATAATAAT:AATAATAATAATAATAATAATAATAATAATAAT	(self)
9123282387	NC_000004.12:139619528:AATAATAATAA… NC_000004.12:139619528:AATAATAATAATAATAATAATAATAATAAT:AATAATAATAATAATAATAATAATAATAATAAT	NC_000004.12:139619528:AATAATAATAA… NC_000004.12:139619528:AATAATAATAATAATAATAATAATAATAAT:AATAATAATAATAATAATAATAATAATAATAAT	(self)
ss4121641542	NC_000004.12:139619528::AATAAT	NC_000004.12:139619528:AATAATAATAA… NC_000004.12:139619528:AATAATAATAATAATAATAATAATAATAAT:AATAATAATAATAATAATAATAATAATAATAATAAT	(self)
9123282387	NC_000004.12:139619528:AATAATAATAA… NC_000004.12:139619528:AATAATAATAATAATAATAATAATAATAAT:AATAATAATAATAATAATAATAATAATAATAATAAT	NC_000004.12:139619528:AATAATAATAA… NC_000004.12:139619528:AATAATAATAATAATAATAATAATAATAAT:AATAATAATAATAATAATAATAATAATAATAATAAT	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss3444600928	NC_000004.12:139619528:AATAATAATAA… NC_000004.12:139619528:AATAATAATAATAAT:	NC_000004.12:139619528:AATAATAATAA… NC_000004.12:139619528:AATAATAATAATAATAATAATAATAATAAT:AATAATAATAATAAT

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs70943433

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
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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.
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs70943433