Name: rs71367746
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.

rs71367746

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr9:114091292-114091308 (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(A)₄ / delAAA / delAA / delA / …
del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₄ / dup(A)₅ / dup(A)₆
Variation Type: Indel Insertion and Deletion
Frequency: delAA=0.0669 (612/9152, ALFA)
delAA=0.3151 (1578/5008, 1000G)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: KIF12 : 500B Downstream 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	9152	AAAAAAAAAAAAAAAAA=0.8728	AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0669, AAAAAAAAAAAAAAAA=0.0281, AAAAAAAAAAAAAAAAAAAAA=0.0268, AAAAAAAAAAAAAAAAAAAAAA=0.0047, AAAAAAAAAAAAAAAAAA=0.0008, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000	0.886792	0.014212	0.098995	32
European	Sub	7748	AAAAAAAAAAAAAAAAA=0.8503	AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0786, AAAAAAAAAAAAAAAA=0.0332, AAAAAAAAAAAAAAAAAAAAA=0.0315, AAAAAAAAAAAAAAAAAAAAAA=0.0055, AAAAAAAAAAAAAAAAAA=0.0009, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000	0.863905	0.016864	0.119231	32
African	Sub	988	AAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
African Others	Sub	34	AAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African American	Sub	954	AAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
Asian	Sub	4	AAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
East Asian	Sub	4	AAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Other Asian	Sub	0	AAAAAAAAAAAAAAAAA=0	AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Latin American 1	Sub	42	AAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	174	AAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	6	AAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Other	Sub	190	AAAAAAAAAAAAAAAAA=0.979	AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.016, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.005, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000	0.978723	0.010638	0.010638	22

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	9152	(A)₁₇=0.8728	delAAA=0.0000, delAA=0.0669, delA=0.0281, dupA=0.0008, dupAA=0.0000, dupAAA=0.0000, dup(A)₄=0.0268, dup(A)₅=0.0047, dup(A)₆=0.0000
Allele Frequency Aggregator	European	Sub	7748	(A)₁₇=0.8503	delAAA=0.0000, delAA=0.0786, delA=0.0332, dupA=0.0009, dupAA=0.0000, dupAAA=0.0000, dup(A)₄=0.0315, dup(A)₅=0.0055, dup(A)₆=0.0000
Allele Frequency Aggregator	African	Sub	988	(A)₁₇=1.000	delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₄=0.000, dup(A)₅=0.000, dup(A)₆=0.000
Allele Frequency Aggregator	Other	Sub	190	(A)₁₇=0.979	delAAA=0.000, delAA=0.016, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₄=0.005, dup(A)₅=0.000, dup(A)₆=0.000
Allele Frequency Aggregator	Latin American 2	Sub	174	(A)₁₇=1.000	delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₄=0.000, dup(A)₅=0.000, dup(A)₆=0.000
Allele Frequency Aggregator	Latin American 1	Sub	42	(A)₁₇=1.00	delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₄=0.00, dup(A)₅=0.00, dup(A)₆=0.00
Allele Frequency Aggregator	South Asian	Sub	6	(A)₁₇=1.0	delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0, dup(A)₄=0.0, dup(A)₅=0.0, dup(A)₆=0.0
Allele Frequency Aggregator	Asian	Sub	4	(A)₁₇=1.0	delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0, dup(A)₄=0.0, dup(A)₅=0.0, dup(A)₆=0.0
1000Genomes	Global	Study-wide	5008	(A)₁₇=0.6849	delAA=0.3151
1000Genomes	African	Sub	1322	(A)₁₇=0.9652	delAA=0.0348
1000Genomes	East Asian	Sub	1008	(A)₁₇=0.3581	delAA=0.6419
1000Genomes	Europe	Sub	1006	(A)₁₇=0.7823	delAA=0.2177
1000Genomes	South Asian	Sub	978	(A)₁₇=0.575	delAA=0.425
1000Genomes	American	Sub	694	(A)₁₇=0.640	delAA=0.360

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 9	NC_000009.12:g.114091305_114091308del
GRCh38.p14 chr 9	NC_000009.12:g.114091306_114091308del
GRCh38.p14 chr 9	NC_000009.12:g.114091307_114091308del
GRCh38.p14 chr 9	NC_000009.12:g.114091308del
GRCh38.p14 chr 9	NC_000009.12:g.114091308dup
GRCh38.p14 chr 9	NC_000009.12:g.114091307_114091308dup
GRCh38.p14 chr 9	NC_000009.12:g.114091306_114091308dup
GRCh38.p14 chr 9	NC_000009.12:g.114091305_114091308dup
GRCh38.p14 chr 9	NC_000009.12:g.114091304_114091308dup
GRCh38.p14 chr 9	NC_000009.12:g.114091303_114091308dup
GRCh37.p13 chr 9	NC_000009.11:g.116853585_116853588del
GRCh37.p13 chr 9	NC_000009.11:g.116853586_116853588del
GRCh37.p13 chr 9	NC_000009.11:g.116853587_116853588del
GRCh37.p13 chr 9	NC_000009.11:g.116853588del
GRCh37.p13 chr 9	NC_000009.11:g.116853588dup
GRCh37.p13 chr 9	NC_000009.11:g.116853587_116853588dup
GRCh37.p13 chr 9	NC_000009.11:g.116853586_116853588dup
GRCh37.p13 chr 9	NC_000009.11:g.116853585_116853588dup
GRCh37.p13 chr 9	NC_000009.11:g.116853584_116853588dup
GRCh37.p13 chr 9	NC_000009.11:g.116853583_116853588dup
KIF12 RefSeqGene	NG_051222.1:g.13790_13793del
KIF12 RefSeqGene	NG_051222.1:g.13791_13793del
KIF12 RefSeqGene	NG_051222.1:g.13792_13793del
KIF12 RefSeqGene	NG_051222.1:g.13793del
KIF12 RefSeqGene	NG_051222.1:g.13793dup
KIF12 RefSeqGene	NG_051222.1:g.13792_13793dup
KIF12 RefSeqGene	NG_051222.1:g.13791_13793dup
KIF12 RefSeqGene	NG_051222.1:g.13790_13793dup
KIF12 RefSeqGene	NG_051222.1:g.13789_13793dup
KIF12 RefSeqGene	NG_051222.1:g.13788_13793dup

Gene: KIF12, kinesin family member 12 (minus strand) : 500B Downstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
KIF12 transcript variant 2	NM_001388308.1:c.	N/A	Downstream Transcript Variant
KIF12 transcript variant 1	NM_138424.2:c.	N/A	Downstream Transcript Variant
KIF12 transcript variant X3	XM_005251683.6:c.	N/A	Downstream Transcript Variant
KIF12 transcript variant X4	XM_006716947.3:c.	N/A	Downstream Transcript Variant
KIF12 transcript variant X1	XM_047422709.1:c.	N/A	Downstream Transcript Variant
KIF12 transcript variant X2	XM_047422710.1:c.	N/A	Downstream Transcript Variant
KIF12 transcript variant X8	XM_047422711.1:c.	N/A	Downstream Transcript Variant
KIF12 transcript variant X7	XM_024447406.2:c.	N/A	N/A
KIF12 transcript variant X5	XR_007061239.1:n.	N/A	N/A
KIF12 transcript variant X6	XR_007061240.1:n.	N/A	N/A

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)₁₇=	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₄	dup(A)₅	dup(A)₆
GRCh38.p14 chr 9	NC_000009.12:g.114091292_114091308=	NC_000009.12:g.114091305_114091308del	NC_000009.12:g.114091306_114091308del	NC_000009.12:g.114091307_114091308del	NC_000009.12:g.114091308del	NC_000009.12:g.114091308dup	NC_000009.12:g.114091307_114091308dup	NC_000009.12:g.114091306_114091308dup	NC_000009.12:g.114091305_114091308dup	NC_000009.12:g.114091304_114091308dup	NC_000009.12:g.114091303_114091308dup
GRCh37.p13 chr 9	NC_000009.11:g.116853572_116853588=	NC_000009.11:g.116853585_116853588del	NC_000009.11:g.116853586_116853588del	NC_000009.11:g.116853587_116853588del	NC_000009.11:g.116853588del	NC_000009.11:g.116853588dup	NC_000009.11:g.116853587_116853588dup	NC_000009.11:g.116853586_116853588dup	NC_000009.11:g.116853585_116853588dup	NC_000009.11:g.116853584_116853588dup	NC_000009.11:g.116853583_116853588dup
KIF12 RefSeqGene	NG_051222.1:g.13777_13793=	NG_051222.1:g.13790_13793del	NG_051222.1:g.13791_13793del	NG_051222.1:g.13792_13793del	NG_051222.1:g.13793del	NG_051222.1:g.13793dup	NG_051222.1:g.13792_13793dup	NG_051222.1:g.13791_13793dup	NG_051222.1:g.13790_13793dup	NG_051222.1:g.13789_13793dup	NG_051222.1:g.13788_13793dup

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#.

64 SubSNP, 35 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HUMANGENOME_JCVI	ss95524785	Feb 13, 2009 (130)
2	SSMP	ss663893993	Apr 01, 2015 (144)
3	1000GENOMES	ss1368681209	Aug 21, 2014 (142)
4	EVA_UK10K_ALSPAC	ss1706533785	Apr 01, 2015 (144)
5	EVA_UK10K_TWINSUK	ss1706533895	Apr 01, 2015 (144)
6	EVA_UK10K_TWINSUK	ss1710438634	Apr 01, 2015 (144)
7	EVA_UK10K_ALSPAC	ss1710439007	Apr 01, 2015 (144)
8	SYSTEMSBIOZJU	ss2627384514	Nov 08, 2017 (151)
9	SWEGEN	ss3005484651	Nov 08, 2017 (151)
10	MCHAISSO	ss3065242694	Nov 08, 2017 (151)
11	URBANLAB	ss3649225851	Oct 12, 2018 (152)
12	EVA_DECODE	ss3724620617	Jul 13, 2019 (153)
13	EVA_DECODE	ss3724620618	Jul 13, 2019 (153)
14	EVA_DECODE	ss3724620619	Jul 13, 2019 (153)
15	EVA_DECODE	ss3724620620	Jul 13, 2019 (153)
16	EVA_DECODE	ss3724620621	Jul 13, 2019 (153)
17	EVA_DECODE	ss3724620622	Jul 13, 2019 (153)
18	ACPOP	ss3736820191	Jul 13, 2019 (153)
19	ACPOP	ss3736820192	Jul 13, 2019 (153)
20	ACPOP	ss3736820193	Jul 13, 2019 (153)
21	ACPOP	ss3736820194	Jul 13, 2019 (153)
22	INMEGENXS	ss3745711863	Jul 13, 2019 (153)
23	KHV_HUMAN_GENOMES	ss3812774879	Jul 13, 2019 (153)
24	EVA	ss3831827578	Apr 26, 2020 (154)
25	KOGIC	ss3966609012	Apr 26, 2020 (154)
26	KOGIC	ss3966609013	Apr 26, 2020 (154)
27	KOGIC	ss3966609014	Apr 26, 2020 (154)
28	KOGIC	ss3966609015	Apr 26, 2020 (154)
29	KOGIC	ss3966609016	Apr 26, 2020 (154)
30	GNOMAD	ss4208269201	Apr 26, 2021 (155)
31	GNOMAD	ss4208269202	Apr 26, 2021 (155)
32	GNOMAD	ss4208269203	Apr 26, 2021 (155)
33	GNOMAD	ss4208269204	Apr 26, 2021 (155)
34	GNOMAD	ss4208269205	Apr 26, 2021 (155)
35	GNOMAD	ss4208269206	Apr 26, 2021 (155)
36	GNOMAD	ss4208269209	Apr 26, 2021 (155)
37	GNOMAD	ss4208269210	Apr 26, 2021 (155)
38	GNOMAD	ss4208269211	Apr 26, 2021 (155)
39	GNOMAD	ss4208269212	Apr 26, 2021 (155)
40	TOMMO_GENOMICS	ss5194993237	Apr 26, 2021 (155)
41	TOMMO_GENOMICS	ss5194993238	Apr 26, 2021 (155)
42	TOMMO_GENOMICS	ss5194993239	Apr 26, 2021 (155)
43	TOMMO_GENOMICS	ss5194993240	Apr 26, 2021 (155)
44	1000G_HIGH_COVERAGE	ss5281949776	Oct 16, 2022 (156)
45	1000G_HIGH_COVERAGE	ss5281949777	Oct 16, 2022 (156)
46	1000G_HIGH_COVERAGE	ss5281949778	Oct 16, 2022 (156)
47	1000G_HIGH_COVERAGE	ss5281949779	Oct 16, 2022 (156)
48	1000G_HIGH_COVERAGE	ss5281949780	Oct 16, 2022 (156)
49	1000G_HIGH_COVERAGE	ss5281949781	Oct 16, 2022 (156)
50	HUGCELL_USP	ss5477839406	Oct 16, 2022 (156)
51	HUGCELL_USP	ss5477839407	Oct 16, 2022 (156)
52	HUGCELL_USP	ss5477839408	Oct 16, 2022 (156)
53	HUGCELL_USP	ss5477839409	Oct 16, 2022 (156)
54	HUGCELL_USP	ss5477839410	Oct 16, 2022 (156)
55	HUGCELL_USP	ss5477839411	Oct 16, 2022 (156)
56	TOMMO_GENOMICS	ss5739432594	Oct 16, 2022 (156)
57	TOMMO_GENOMICS	ss5739432595	Oct 16, 2022 (156)
58	TOMMO_GENOMICS	ss5739432596	Oct 16, 2022 (156)
59	TOMMO_GENOMICS	ss5739432597	Oct 16, 2022 (156)
60	TOMMO_GENOMICS	ss5739432598	Oct 16, 2022 (156)
61	TOMMO_GENOMICS	ss5739432599	Oct 16, 2022 (156)
62	EVA	ss5829658419	Oct 16, 2022 (156)
63	EVA	ss5829658420	Oct 16, 2022 (156)
64	EVA	ss5856908892	Oct 16, 2022 (156)
65	1000Genomes	NC_000009.11 - 116853572	Oct 12, 2018 (152)
66	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 26392352 (NC_000009.11:116853571:AA: 851/3854) Row 26392353 (NC_000009.11:116853571::AAAA 417/3854)	-	Oct 12, 2018 (152)
67	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 26392352 (NC_000009.11:116853571:AA: 851/3854) Row 26392353 (NC_000009.11:116853571::AAAA 417/3854)	-	Oct 12, 2018 (152)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 335713775 (NC_000009.12:114091291::A 5410/124700) Row 335713776 (NC_000009.12:114091291::AA 433/124718) Row 335713777 (NC_000009.12:114091291::AAA 3325/124672)...	-	Apr 26, 2021 (155)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 335713775 (NC_000009.12:114091291::A 5410/124700) Row 335713776 (NC_000009.12:114091291::AA 433/124718) Row 335713777 (NC_000009.12:114091291::AAA 3325/124672)...	-	Apr 26, 2021 (155)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 335713775 (NC_000009.12:114091291::A 5410/124700) Row 335713776 (NC_000009.12:114091291::AA 433/124718) Row 335713777 (NC_000009.12:114091291::AAA 3325/124672)...	-	Apr 26, 2021 (155)
71	gnomAD - Genomes Submission ignored due to conflicting rows: Row 335713775 (NC_000009.12:114091291::A 5410/124700) Row 335713776 (NC_000009.12:114091291::AA 433/124718) Row 335713777 (NC_000009.12:114091291::AAA 3325/124672)...	-	Apr 26, 2021 (155)
72	gnomAD - Genomes Submission ignored due to conflicting rows: Row 335713775 (NC_000009.12:114091291::A 5410/124700) Row 335713776 (NC_000009.12:114091291::AA 433/124718) Row 335713777 (NC_000009.12:114091291::AAA 3325/124672)...	-	Apr 26, 2021 (155)
73	gnomAD - Genomes Submission ignored due to conflicting rows: Row 335713775 (NC_000009.12:114091291::A 5410/124700) Row 335713776 (NC_000009.12:114091291::AA 433/124718) Row 335713777 (NC_000009.12:114091291::AAA 3325/124672)...	-	Apr 26, 2021 (155)
74	gnomAD - Genomes Submission ignored due to conflicting rows: Row 335713775 (NC_000009.12:114091291::A 5410/124700) Row 335713776 (NC_000009.12:114091291::AA 433/124718) Row 335713777 (NC_000009.12:114091291::AAA 3325/124672)...	-	Apr 26, 2021 (155)
75	gnomAD - Genomes Submission ignored due to conflicting rows: Row 335713775 (NC_000009.12:114091291::A 5410/124700) Row 335713776 (NC_000009.12:114091291::AA 433/124718) Row 335713777 (NC_000009.12:114091291::AAA 3325/124672)...	-	Apr 26, 2021 (155)
76	gnomAD - Genomes Submission ignored due to conflicting rows: Row 335713775 (NC_000009.12:114091291::A 5410/124700) Row 335713776 (NC_000009.12:114091291::AA 433/124718) Row 335713777 (NC_000009.12:114091291::AAA 3325/124672)...	-	Apr 26, 2021 (155)
77	gnomAD - Genomes Submission ignored due to conflicting rows: Row 335713775 (NC_000009.12:114091291::A 5410/124700) Row 335713776 (NC_000009.12:114091291::AA 433/124718) Row 335713777 (NC_000009.12:114091291::AAA 3325/124672)...	-	Apr 26, 2021 (155)
78	Korean Genome Project Submission ignored due to conflicting rows: Row 22987013 (NC_000009.12:114091291:AAA: 44/1832) Row 22987014 (NC_000009.12:114091292:AA: 941/1832) Row 22987015 (NC_000009.12:114091293:A: 83/1832)...	-	Apr 26, 2020 (154)
79	Korean Genome Project Submission ignored due to conflicting rows: Row 22987013 (NC_000009.12:114091291:AAA: 44/1832) Row 22987014 (NC_000009.12:114091292:AA: 941/1832) Row 22987015 (NC_000009.12:114091293:A: 83/1832)...	-	Apr 26, 2020 (154)
80	Korean Genome Project Submission ignored due to conflicting rows: Row 22987013 (NC_000009.12:114091291:AAA: 44/1832) Row 22987014 (NC_000009.12:114091292:AA: 941/1832) Row 22987015 (NC_000009.12:114091293:A: 83/1832)...	-	Apr 26, 2020 (154)
81	Korean Genome Project Submission ignored due to conflicting rows: Row 22987013 (NC_000009.12:114091291:AAA: 44/1832) Row 22987014 (NC_000009.12:114091292:AA: 941/1832) Row 22987015 (NC_000009.12:114091293:A: 83/1832)...	-	Apr 26, 2020 (154)
82	Korean Genome Project Submission ignored due to conflicting rows: Row 22987013 (NC_000009.12:114091291:AAA: 44/1832) Row 22987014 (NC_000009.12:114091292:AA: 941/1832) Row 22987015 (NC_000009.12:114091293:A: 83/1832)...	-	Apr 26, 2020 (154)
83	Northern Sweden Submission ignored due to conflicting rows: Row 10105056 (NC_000009.11:116853571:AA: 97/578) Row 10105057 (NC_000009.11:116853571:A: 12/578) Row 10105058 (NC_000009.11:116853571::AAAAA 13/578)...	-	Jul 13, 2019 (153)
84	Northern Sweden Submission ignored due to conflicting rows: Row 10105056 (NC_000009.11:116853571:AA: 97/578) Row 10105057 (NC_000009.11:116853571:A: 12/578) Row 10105058 (NC_000009.11:116853571::AAAAA 13/578)...	-	Jul 13, 2019 (153)
85	Northern Sweden Submission ignored due to conflicting rows: Row 10105056 (NC_000009.11:116853571:AA: 97/578) Row 10105057 (NC_000009.11:116853571:A: 12/578) Row 10105058 (NC_000009.11:116853571::AAAAA 13/578)...	-	Jul 13, 2019 (153)
86	Northern Sweden Submission ignored due to conflicting rows: Row 10105056 (NC_000009.11:116853571:AA: 97/578) Row 10105057 (NC_000009.11:116853571:A: 12/578) Row 10105058 (NC_000009.11:116853571::AAAAA 13/578)...	-	Jul 13, 2019 (153)
87	8.3KJPN Submission ignored due to conflicting rows: Row 52962544 (NC_000009.11:116853571:AA: 9470/16748) Row 52962545 (NC_000009.11:116853571::AAAA 371/16748) Row 52962546 (NC_000009.11:116853571::A 199/16748)...	-	Apr 26, 2021 (155)
88	8.3KJPN Submission ignored due to conflicting rows: Row 52962544 (NC_000009.11:116853571:AA: 9470/16748) Row 52962545 (NC_000009.11:116853571::AAAA 371/16748) Row 52962546 (NC_000009.11:116853571::A 199/16748)...	-	Apr 26, 2021 (155)
89	8.3KJPN Submission ignored due to conflicting rows: Row 52962544 (NC_000009.11:116853571:AA: 9470/16748) Row 52962545 (NC_000009.11:116853571::AAAA 371/16748) Row 52962546 (NC_000009.11:116853571::A 199/16748)...	-	Apr 26, 2021 (155)
90	8.3KJPN Submission ignored due to conflicting rows: Row 52962544 (NC_000009.11:116853571:AA: 9470/16748) Row 52962545 (NC_000009.11:116853571::AAAA 371/16748) Row 52962546 (NC_000009.11:116853571::A 199/16748)...	-	Apr 26, 2021 (155)
91	14KJPN Submission ignored due to conflicting rows: Row 73269698 (NC_000009.12:114091291:AA: 15547/27940) Row 73269699 (NC_000009.12:114091291:AAA: 17/27940) Row 73269700 (NC_000009.12:114091291::AAAA 518/27940)...	-	Oct 16, 2022 (156)
92	14KJPN Submission ignored due to conflicting rows: Row 73269698 (NC_000009.12:114091291:AA: 15547/27940) Row 73269699 (NC_000009.12:114091291:AAA: 17/27940) Row 73269700 (NC_000009.12:114091291::AAAA 518/27940)...	-	Oct 16, 2022 (156)
93	14KJPN Submission ignored due to conflicting rows: Row 73269698 (NC_000009.12:114091291:AA: 15547/27940) Row 73269699 (NC_000009.12:114091291:AAA: 17/27940) Row 73269700 (NC_000009.12:114091291::AAAA 518/27940)...	-	Oct 16, 2022 (156)
94	14KJPN Submission ignored due to conflicting rows: Row 73269698 (NC_000009.12:114091291:AA: 15547/27940) Row 73269699 (NC_000009.12:114091291:AAA: 17/27940) Row 73269700 (NC_000009.12:114091291::AAAA 518/27940)...	-	Oct 16, 2022 (156)
95	14KJPN Submission ignored due to conflicting rows: Row 73269698 (NC_000009.12:114091291:AA: 15547/27940) Row 73269699 (NC_000009.12:114091291:AAA: 17/27940) Row 73269700 (NC_000009.12:114091291::AAAA 518/27940)...	-	Oct 16, 2022 (156)
96	14KJPN Submission ignored due to conflicting rows: Row 73269698 (NC_000009.12:114091291:AA: 15547/27940) Row 73269699 (NC_000009.12:114091291:AAA: 17/27940) Row 73269700 (NC_000009.12:114091291::AAAA 518/27940)...	-	Oct 16, 2022 (156)
97	UK 10K study - Twins Submission ignored due to conflicting rows: Row 26392352 (NC_000009.11:116853571:AA: 796/3708) Row 26392353 (NC_000009.11:116853571::AAAA 456/3708)	-	Oct 12, 2018 (152)
98	UK 10K study - Twins Submission ignored due to conflicting rows: Row 26392352 (NC_000009.11:116853571:AA: 796/3708) Row 26392353 (NC_000009.11:116853571::AAAA 456/3708)	-	Oct 12, 2018 (152)
99	ALFA	NC_000009.12 - 114091292	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)
rs72185407	May 11, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4208269212	NC_000009.12:114091291:AAAA:	NC_000009.12:114091291:AAAAAAAAAAA… NC_000009.12:114091291:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss3724620622, ss3966609012, ss4208269211, ss5739432595	NC_000009.12:114091291:AAA:	NC_000009.12:114091291:AAAAAAAAAAA… NC_000009.12:114091291:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
10748785041	NC_000009.12:114091291:AAAAAAAAAAA… NC_000009.12:114091291:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000009.12:114091291:AAAAAAAAAAA… NC_000009.12:114091291:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
47500000, ss663893993, ss1368681209, ss1706533785, ss1706533895, ss2627384514, ss3005484651, ss3736820191, ss3745711863, ss5194993237, ss5829658419	NC_000009.11:116853571:AA:	NC_000009.12:114091291:AAAAAAAAAAA… NC_000009.12:114091291:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3065242694, ss3649225851, ss3812774879, ss4208269210, ss5281949776, ss5477839408, ss5739432594, ss5856908892	NC_000009.12:114091291:AA:	NC_000009.12:114091291:AAAAAAAAAAA… NC_000009.12:114091291:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
10748785041	NC_000009.12:114091291:AAAAAAAAAAA… NC_000009.12:114091291:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000009.12:114091291:AAAAAAAAAAA… NC_000009.12:114091291:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3724620621, ss3966609013	NC_000009.12:114091292:AA:	NC_000009.12:114091291:AAAAAAAAAAA… NC_000009.12:114091291:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3736820192, ss5194993240	NC_000009.11:116853571:A:	NC_000009.12:114091291:AAAAAAAAAAA… NC_000009.12:114091291:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss4208269209, ss5281949780, ss5477839407, ss5739432598	NC_000009.12:114091291:A:	NC_000009.12:114091291:AAAAAAAAAAA… NC_000009.12:114091291:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
10748785041	NC_000009.12:114091291:AAAAAAAAAAA… NC_000009.12:114091291:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000009.12:114091291:AAAAAAAAAAA… NC_000009.12:114091291:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3724620620, ss3966609014	NC_000009.12:114091293:A:	NC_000009.12:114091291:AAAAAAAAAAA… NC_000009.12:114091291:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss95524785	NT_008470.19:46018117:A:	NC_000009.12:114091291:AAAAAAAAAAA… NC_000009.12:114091291:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss5194993239	NC_000009.11:116853571::A	NC_000009.12:114091291:AAAAAAAAAAA… NC_000009.12:114091291:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss4208269201, ss5281949778, ss5477839406, ss5739432597	NC_000009.12:114091291::A	NC_000009.12:114091291:AAAAAAAAAAA… NC_000009.12:114091291:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
10748785041	NC_000009.12:114091291:AAAAAAAAAAA… NC_000009.12:114091291:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000009.12:114091291:AAAAAAAAAAA… NC_000009.12:114091291:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss3966609016	NC_000009.12:114091294::A	NC_000009.12:114091291:AAAAAAAAAAA… NC_000009.12:114091291:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss95524785	NT_008470.19:46018117:A:AA	NC_000009.12:114091291:AAAAAAAAAAA… NC_000009.12:114091291:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss4208269202	NC_000009.12:114091291::AA	NC_000009.12:114091291:AAAAAAAAAAA… NC_000009.12:114091291:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
10748785041	NC_000009.12:114091291:AAAAAAAAAAA… NC_000009.12:114091291:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000009.12:114091291:AAAAAAAAAAA… NC_000009.12:114091291:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss4208269203, ss5281949779, ss5477839409, ss5739432599	NC_000009.12:114091291::AAA	NC_000009.12:114091291:AAAAAAAAAAA… NC_000009.12:114091291:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
10748785041	NC_000009.12:114091291:AAAAAAAAAAA… NC_000009.12:114091291:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000009.12:114091291:AAAAAAAAAAA… NC_000009.12:114091291:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3724620619	NC_000009.12:114091294::AAA	NC_000009.12:114091291:AAAAAAAAAAA… NC_000009.12:114091291:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3736820194, ss5194993238, ss5829658420	NC_000009.11:116853571::AAAA	NC_000009.12:114091291:AAAAAAAAAAA… NC_000009.12:114091291:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss1710438634, ss1710439007	NC_000009.11:116853573::AAAA	NC_000009.12:114091291:AAAAAAAAAAA… NC_000009.12:114091291:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss4208269204, ss5281949777, ss5477839410, ss5739432596	NC_000009.12:114091291::AAAA	NC_000009.12:114091291:AAAAAAAAAAA… NC_000009.12:114091291:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
10748785041	NC_000009.12:114091291:AAAAAAAAAAA… NC_000009.12:114091291:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000009.12:114091291:AAAAAAAAAAA… NC_000009.12:114091291:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss3724620618, ss3966609015	NC_000009.12:114091294::AAAA	NC_000009.12:114091291:AAAAAAAAAAA… NC_000009.12:114091291:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss3736820193, ss3831827578	NC_000009.11:116853571::AAAAA	NC_000009.12:114091291:AAAAAAAAAAA… NC_000009.12:114091291:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss4208269205, ss5281949781, ss5477839411	NC_000009.12:114091291::AAAAA	NC_000009.12:114091291:AAAAAAAAAAA… NC_000009.12:114091291:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
10748785041	NC_000009.12:114091291:AAAAAAAAAAA… NC_000009.12:114091291:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000009.12:114091291:AAAAAAAAAAA… NC_000009.12:114091291:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss3724620617	NC_000009.12:114091294::AAAAA	NC_000009.12:114091291:AAAAAAAAAAA… NC_000009.12:114091291:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss4208269206	NC_000009.12:114091291::AAAAAA	NC_000009.12:114091291:AAAAAAAAAAA… NC_000009.12:114091291:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
10748785041	NC_000009.12:114091291:AAAAAAAAAAA… NC_000009.12:114091291:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	NC_000009.12:114091291:AAAAAAAAAAA… NC_000009.12:114091291:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(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 rs71367746

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

rs71367746