Name: rs35482343
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.

rs35482343

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr12:43798622-43798636 (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)₈ / del(A)₅ / delAAA / delAA…
del(A)₈ / del(A)₅ / delAAA / delAA / delA / dupA / dupAA / dupAAA
Variation Type: Indel Insertion and Deletion
Frequency: del(A)₅=0.000004 (1/264690, TOPMED)
dupA=0.03877 (574/14804, ALFA)
dupA=0.093 (55/594, NorthernSweden) (+ 1 more)
dupA=0.17 (7/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: TMEM117 : Intron Variant
TWF1 : 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	14804	AAAAAAAAAAAAAAA=0.96035	AAAAAAA=0.00000, AAAAAAAAAA=0.00000, AAAAAAAAAAAAAA=0.00061, AAAAAAAAAAAAAAAA=0.03877, AAAAAAAAAAAAAAAAA=0.00027	0.928948	0.006496	0.064555	32
European	Sub	12046	AAAAAAAAAAAAAAA=0.95127	AAAAAAA=0.00000, AAAAAAAAAA=0.00000, AAAAAAAAAAAAAA=0.00075, AAAAAAAAAAAAAAAA=0.04765, AAAAAAAAAAAAAAAAA=0.00033	0.912646	0.007987	0.079368	32
African	Sub	1614	AAAAAAAAAAAAAAA=1.0000	AAAAAAA=0.0000, AAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000	1.0	0.0	0.0	N/A
African Others	Sub	68	AAAAAAAAAAAAAAA=1.00	AAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African American	Sub	1546	AAAAAAAAAAAAAAA=1.0000	AAAAAAA=0.0000, AAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000	1.0	0.0	0.0	N/A
Asian	Sub	92	AAAAAAAAAAAAAAA=1.00	AAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	74	AAAAAAAAAAAAAAA=1.00	AAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	18	AAAAAAAAAAAAAAA=1.00	AAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	90	AAAAAAAAAAAAAAA=1.00	AAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	514	AAAAAAAAAAAAAAA=1.000	AAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	76	AAAAAAAAAAAAAAA=1.00	AAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other	Sub	372	AAAAAAAAAAAAAAA=1.000	AAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A

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	(A)₁₅=0.999996	del(A)₅=0.000004
Allele Frequency Aggregator	Total	Global	14804	(A)₁₅=0.96035	del(A)₈=0.00000, del(A)₅=0.00000, delA=0.00061, dupA=0.03877, dupAA=0.00027
Allele Frequency Aggregator	European	Sub	12046	(A)₁₅=0.95127	del(A)₈=0.00000, del(A)₅=0.00000, delA=0.00075, dupA=0.04765, dupAA=0.00033
Allele Frequency Aggregator	African	Sub	1614	(A)₁₅=1.0000	del(A)₈=0.0000, del(A)₅=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	514	(A)₁₅=1.000	del(A)₈=0.000, del(A)₅=0.000, delA=0.000, dupA=0.000, dupAA=0.000
Allele Frequency Aggregator	Other	Sub	372	(A)₁₅=1.000	del(A)₈=0.000, del(A)₅=0.000, delA=0.000, dupA=0.000, dupAA=0.000
Allele Frequency Aggregator	Asian	Sub	92	(A)₁₅=1.00	del(A)₈=0.00, del(A)₅=0.00, delA=0.00, dupA=0.00, dupAA=0.00
Allele Frequency Aggregator	Latin American 1	Sub	90	(A)₁₅=1.00	del(A)₈=0.00, del(A)₅=0.00, delA=0.00, dupA=0.00, dupAA=0.00
Allele Frequency Aggregator	South Asian	Sub	76	(A)₁₅=1.00	del(A)₈=0.00, del(A)₅=0.00, delA=0.00, dupA=0.00, dupAA=0.00
Northern Sweden	ACPOP	Study-wide	594	- No frequency provided	dupA=0.093
The Danish reference pan genome	Danish	Study-wide	40	- No frequency provided	dupA=0.17

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 12	NC_000012.12:g.43798629_43798636del
GRCh38.p14 chr 12	NC_000012.12:g.43798632_43798636del
GRCh38.p14 chr 12	NC_000012.12:g.43798634_43798636del
GRCh38.p14 chr 12	NC_000012.12:g.43798635_43798636del
GRCh38.p14 chr 12	NC_000012.12:g.43798636del
GRCh38.p14 chr 12	NC_000012.12:g.43798636dup
GRCh38.p14 chr 12	NC_000012.12:g.43798635_43798636dup
GRCh38.p14 chr 12	NC_000012.12:g.43798634_43798636dup
GRCh37.p13 chr 12	NC_000012.11:g.44192432_44192439del
GRCh37.p13 chr 12	NC_000012.11:g.44192435_44192439del
GRCh37.p13 chr 12	NC_000012.11:g.44192437_44192439del
GRCh37.p13 chr 12	NC_000012.11:g.44192438_44192439del
GRCh37.p13 chr 12	NC_000012.11:g.44192439del
GRCh37.p13 chr 12	NC_000012.11:g.44192439dup
GRCh37.p13 chr 12	NC_000012.11:g.44192438_44192439dup
GRCh37.p13 chr 12	NC_000012.11:g.44192437_44192439dup

Gene: TWF1, twinfilin actin binding protein 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
TWF1 transcript variant 1	NM_001242397.2:c.484-44_4… NM_001242397.2:c.484-44_484-37del	N/A	Intron Variant
TWF1 transcript variant 2	NM_002822.5:c.483+769_483… NM_002822.5:c.483+769_483+776del	N/A	Intron Variant
TWF1 transcript variant 3	NR_073472.2:n.	N/A	Intron Variant
TWF1 transcript variant 4	NR_073473.2:n.	N/A	Intron Variant
TWF1 transcript variant X1	XM_047429198.1:c.189+769_… XM_047429198.1:c.189+769_189+776del	N/A	Intron Variant
TWF1 transcript variant X2	XM_047429199.1:c.189+769_… XM_047429199.1:c.189+769_189+776del	N/A	Intron Variant

Gene: TMEM117, transmembrane protein 117 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
TMEM117 transcript variant 2	NM_001286211.2:c.	N/A	Genic Upstream Transcript Variant
TMEM117 transcript variant 3	NM_001286212.2:c.	N/A	Genic Upstream Transcript Variant
TMEM117 transcript variant 4	NM_001286213.2:c.	N/A	Genic Upstream Transcript Variant
TMEM117 transcript variant 1	NM_032256.3:c.	N/A	Genic Upstream Transcript Variant
TMEM117 transcript variant X2	XM_047429662.1:c.-29+2479… XM_047429662.1:c.-29+2479_-29+2486del	N/A	Intron Variant
TMEM117 transcript variant X1	XM_011538832.3:c.	N/A	Genic Upstream Transcript Variant
TMEM117 transcript variant X3	XM_017020022.2:c.	N/A	Genic Upstream Transcript Variant
TMEM117 transcript variant X4	XM_047429663.1:c.	N/A	Genic Upstream Transcript Variant
TMEM117 transcript variant X5	XM_047429664.1:c.	N/A	Genic Upstream Transcript Variant
TMEM117 transcript variant X6	XM_047429665.1: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)₁₅=	del(A)₈	del(A)₅	delAAA	delAA	delA	dupA	dupAA	dupAAA
GRCh38.p14 chr 12	NC_000012.12:g.43798622_43798636=	NC_000012.12:g.43798629_43798636del	NC_000012.12:g.43798632_43798636del	NC_000012.12:g.43798634_43798636del	NC_000012.12:g.43798635_43798636del	NC_000012.12:g.43798636del	NC_000012.12:g.43798636dup	NC_000012.12:g.43798635_43798636dup	NC_000012.12:g.43798634_43798636dup
GRCh37.p13 chr 12	NC_000012.11:g.44192425_44192439=	NC_000012.11:g.44192432_44192439del	NC_000012.11:g.44192435_44192439del	NC_000012.11:g.44192437_44192439del	NC_000012.11:g.44192438_44192439del	NC_000012.11:g.44192439del	NC_000012.11:g.44192439dup	NC_000012.11:g.44192438_44192439dup	NC_000012.11:g.44192437_44192439dup
TWF1 transcript variant 1	NM_001242397.1:c.484-37=	NM_001242397.1:c.484-44_484-37del	NM_001242397.1:c.484-41_484-37del	NM_001242397.1:c.484-39_484-37del	NM_001242397.1:c.484-38_484-37del	NM_001242397.1:c.484-37del	NM_001242397.1:c.484-37dup	NM_001242397.1:c.484-38_484-37dup	NM_001242397.1:c.484-39_484-37dup
TWF1 transcript variant 1	NM_001242397.2:c.484-37=	NM_001242397.2:c.484-44_484-37del	NM_001242397.2:c.484-41_484-37del	NM_001242397.2:c.484-39_484-37del	NM_001242397.2:c.484-38_484-37del	NM_001242397.2:c.484-37del	NM_001242397.2:c.484-37dup	NM_001242397.2:c.484-38_484-37dup	NM_001242397.2:c.484-39_484-37dup
TWF1 transcript variant 2	NM_002822.4:c.483+776=	NM_002822.4:c.483+769_483+776del	NM_002822.4:c.483+772_483+776del	NM_002822.4:c.483+774_483+776del	NM_002822.4:c.483+775_483+776del	NM_002822.4:c.483+776del	NM_002822.4:c.483+776dup	NM_002822.4:c.483+775_483+776dup	NM_002822.4:c.483+774_483+776dup
TWF1 transcript variant 2	NM_002822.5:c.483+776=	NM_002822.5:c.483+769_483+776del	NM_002822.5:c.483+772_483+776del	NM_002822.5:c.483+774_483+776del	NM_002822.5:c.483+775_483+776del	NM_002822.5:c.483+776del	NM_002822.5:c.483+776dup	NM_002822.5:c.483+775_483+776dup	NM_002822.5:c.483+774_483+776dup
TWF1 transcript variant X1	XM_047429198.1:c.189+776=	XM_047429198.1:c.189+769_189+776del	XM_047429198.1:c.189+772_189+776del	XM_047429198.1:c.189+774_189+776del	XM_047429198.1:c.189+775_189+776del	XM_047429198.1:c.189+776del	XM_047429198.1:c.189+776dup	XM_047429198.1:c.189+775_189+776dup	XM_047429198.1:c.189+774_189+776dup
TWF1 transcript variant X2	XM_047429199.1:c.189+776=	XM_047429199.1:c.189+769_189+776del	XM_047429199.1:c.189+772_189+776del	XM_047429199.1:c.189+774_189+776del	XM_047429199.1:c.189+775_189+776del	XM_047429199.1:c.189+776del	XM_047429199.1:c.189+776dup	XM_047429199.1:c.189+775_189+776dup	XM_047429199.1:c.189+774_189+776dup
TMEM117 transcript variant X2	XM_047429662.1:c.-29+2472=	XM_047429662.1:c.-29+2479_-29+2486del	XM_047429662.1:c.-29+2482_-29+2486del	XM_047429662.1:c.-29+2484_-29+2486del	XM_047429662.1:c.-29+2485_-29+2486del	XM_047429662.1:c.-29+2486del	XM_047429662.1:c.-29+2486dup	XM_047429662.1:c.-29+2485_-29+2486dup	XM_047429662.1:c.-29+2484_-29+2486dup

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#.

40 SubSNP, 24 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss40156938	Mar 15, 2006 (126)
2	HGSV	ss80846918	Oct 12, 2018 (152)
3	HUMANGENOME_JCVI	ss97270677	Feb 05, 2009 (130)
4	PJP	ss294749091	May 09, 2011 (137)
5	EVA_GENOME_DK	ss1574495085	Apr 01, 2015 (144)
6	EVA_EXAC	ss1712005954	Apr 01, 2015 (144)
7	EVA_EXAC	ss1712005955	Apr 01, 2015 (144)
8	EVA_EXAC	ss1712005956	Apr 01, 2015 (144)
9	EVA_EXAC	ss1712005957	Jan 10, 2018 (151)
10	SWEGEN	ss3009599235	Nov 08, 2017 (151)
11	URBANLAB	ss3649827692	Oct 12, 2018 (152)
12	EVA_DECODE	ss3693565429	Jul 13, 2019 (153)
13	EVA_DECODE	ss3693565430	Jul 13, 2019 (153)
14	EVA_DECODE	ss3693565431	Jul 13, 2019 (153)
15	EVA_DECODE	ss3693565432	Jul 13, 2019 (153)
16	ACPOP	ss3738976067	Jul 13, 2019 (153)
17	EVA	ss3833096607	Apr 27, 2020 (154)
18	EVA	ss3840119117	Apr 27, 2020 (154)
19	EVA	ss3845605191	Apr 27, 2020 (154)
20	FSA-LAB	ss3984026214	Apr 26, 2021 (155)
21	GNOMAD	ss4250848607	Apr 26, 2021 (155)
22	GNOMAD	ss4250848608	Apr 26, 2021 (155)
23	GNOMAD	ss4250848609	Apr 26, 2021 (155)
24	GNOMAD	ss4250848610	Apr 26, 2021 (155)
25	GNOMAD	ss4250848611	Apr 26, 2021 (155)
26	TOPMED	ss4916392215	Apr 26, 2021 (155)
27	TOMMO_GENOMICS	ss5206070152	Apr 26, 2021 (155)
28	TOMMO_GENOMICS	ss5206070153	Apr 26, 2021 (155)
29	1000G_HIGH_COVERAGE	ss5290618295	Oct 16, 2022 (156)
30	1000G_HIGH_COVERAGE	ss5290618296	Oct 16, 2022 (156)
31	1000G_HIGH_COVERAGE	ss5290618297	Oct 16, 2022 (156)
32	HUGCELL_USP	ss5485394679	Oct 16, 2022 (156)
33	HUGCELL_USP	ss5485394680	Oct 16, 2022 (156)
34	HUGCELL_USP	ss5485394681	Oct 16, 2022 (156)
35	EVA	ss5624031846	Oct 16, 2022 (156)
36	TOMMO_GENOMICS	ss5755785120	Oct 16, 2022 (156)
37	TOMMO_GENOMICS	ss5755785121	Oct 16, 2022 (156)
38	EVA	ss5850359020	Oct 16, 2022 (156)
39	EVA	ss5936100761	Oct 16, 2022 (156)
40	EVA	ss5936100762	Oct 16, 2022 (156)
41	ExAC Submission ignored due to conflicting rows: Row 1156850 (NC_000012.11:44192424::A 1441/9392) Row 1156851 (NC_000012.11:44192424:A: 2845/9392) Row 1156852 (NC_000012.11:44192424::AA 59/9392) Row 1156853 (NC_000012.11:44192424:AA: 112/9392)	-	Oct 12, 2018 (152)
42	ExAC Submission ignored due to conflicting rows: Row 1156850 (NC_000012.11:44192424::A 1441/9392) Row 1156851 (NC_000012.11:44192424:A: 2845/9392) Row 1156852 (NC_000012.11:44192424::AA 59/9392) Row 1156853 (NC_000012.11:44192424:AA: 112/9392)	-	Oct 12, 2018 (152)
43	ExAC Submission ignored due to conflicting rows: Row 1156850 (NC_000012.11:44192424::A 1441/9392) Row 1156851 (NC_000012.11:44192424:A: 2845/9392) Row 1156852 (NC_000012.11:44192424::AA 59/9392) Row 1156853 (NC_000012.11:44192424:AA: 112/9392)	-	Oct 12, 2018 (152)
44	ExAC Submission ignored due to conflicting rows: Row 1156850 (NC_000012.11:44192424::A 1441/9392) Row 1156851 (NC_000012.11:44192424:A: 2845/9392) Row 1156852 (NC_000012.11:44192424::AA 59/9392) Row 1156853 (NC_000012.11:44192424:AA: 112/9392)	-	Oct 12, 2018 (152)
45	The Danish reference pan genome	NC_000012.11 - 44192425	Apr 27, 2020 (154)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 405750407 (NC_000012.12:43798621::A 22738/125864) Row 405750408 (NC_000012.12:43798621::AA 403/125992) Row 405750409 (NC_000012.12:43798621::AAA 1/126008)...	-	Apr 26, 2021 (155)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 405750407 (NC_000012.12:43798621::A 22738/125864) Row 405750408 (NC_000012.12:43798621::AA 403/125992) Row 405750409 (NC_000012.12:43798621::AAA 1/126008)...	-	Apr 26, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 405750407 (NC_000012.12:43798621::A 22738/125864) Row 405750408 (NC_000012.12:43798621::AA 403/125992) Row 405750409 (NC_000012.12:43798621::AAA 1/126008)...	-	Apr 26, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 405750407 (NC_000012.12:43798621::A 22738/125864) Row 405750408 (NC_000012.12:43798621::AA 403/125992) Row 405750409 (NC_000012.12:43798621::AAA 1/126008)...	-	Apr 26, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 405750407 (NC_000012.12:43798621::A 22738/125864) Row 405750408 (NC_000012.12:43798621::AA 403/125992) Row 405750409 (NC_000012.12:43798621::AAA 1/126008)...	-	Apr 26, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 405750407 (NC_000012.12:43798621::A 22738/125864) Row 405750408 (NC_000012.12:43798621::AA 403/125992) Row 405750409 (NC_000012.12:43798621::AAA 1/126008)...	-	Apr 26, 2021 (155)
52	gnomAD - Exomes Submission ignored due to conflicting rows: Row 8975379 (NC_000012.11:44192424::A 10385/59968) Row 8975380 (NC_000012.11:44192424::AA 468/59968) Row 8975381 (NC_000012.11:44192424::AAA 17/59968)...	-	Jul 13, 2019 (153)
53	gnomAD - Exomes Submission ignored due to conflicting rows: Row 8975379 (NC_000012.11:44192424::A 10385/59968) Row 8975380 (NC_000012.11:44192424::AA 468/59968) Row 8975381 (NC_000012.11:44192424::AAA 17/59968)...	-	Jul 13, 2019 (153)
54	gnomAD - Exomes Submission ignored due to conflicting rows: Row 8975379 (NC_000012.11:44192424::A 10385/59968) Row 8975380 (NC_000012.11:44192424::AA 468/59968) Row 8975381 (NC_000012.11:44192424::AAA 17/59968)...	-	Jul 13, 2019 (153)
55	gnomAD - Exomes Submission ignored due to conflicting rows: Row 8975379 (NC_000012.11:44192424::A 10385/59968) Row 8975380 (NC_000012.11:44192424::AA 468/59968) Row 8975381 (NC_000012.11:44192424::AAA 17/59968)...	-	Jul 13, 2019 (153)
56	gnomAD - Exomes Submission ignored due to conflicting rows: Row 8975379 (NC_000012.11:44192424::A 10385/59968) Row 8975380 (NC_000012.11:44192424::AA 468/59968) Row 8975381 (NC_000012.11:44192424::AAA 17/59968)...	-	Jul 13, 2019 (153)
57	gnomAD - Exomes Submission ignored due to conflicting rows: Row 8975379 (NC_000012.11:44192424::A 10385/59968) Row 8975380 (NC_000012.11:44192424::AA 468/59968) Row 8975381 (NC_000012.11:44192424::AAA 17/59968)...	-	Jul 13, 2019 (153)
58	Northern Sweden	NC_000012.11 - 44192425	Jul 13, 2019 (153)
59	8.3KJPN Submission ignored due to conflicting rows: Row 64039459 (NC_000012.11:44192424::A 786/16760) Row 64039460 (NC_000012.11:44192424:A: 24/16760)	-	Apr 26, 2021 (155)
60	8.3KJPN Submission ignored due to conflicting rows: Row 64039459 (NC_000012.11:44192424::A 786/16760) Row 64039460 (NC_000012.11:44192424:A: 24/16760)	-	Apr 26, 2021 (155)
61	14KJPN Submission ignored due to conflicting rows: Row 89622224 (NC_000012.12:43798621::A 1279/28258) Row 89622225 (NC_000012.12:43798621:A: 37/28258)	-	Oct 16, 2022 (156)
62	14KJPN Submission ignored due to conflicting rows: Row 89622224 (NC_000012.12:43798621::A 1279/28258) Row 89622225 (NC_000012.12:43798621:A: 37/28258)	-	Oct 16, 2022 (156)
63	TopMed	NC_000012.12 - 43798622	Apr 26, 2021 (155)
64	ALFA	NC_000012.12 - 43798622	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)
rs71880477	May 11, 2012 (137)
rs141501843	May 11, 2012 (137)
rs796614783	Nov 08, 2017 (151)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4250848611	NC_000012.12:43798621:AAAAAAAA:	NC_000012.12:43798621:AAAAAAAAAAAA… NC_000012.12:43798621:AAAAAAAAAAAAAAA:AAAAAAA	(self)
3883442608	NC_000012.12:43798621:AAAAAAAAAAAA… NC_000012.12:43798621:AAAAAAAAAAAAAAA:AAAAAAA	NC_000012.12:43798621:AAAAAAAAAAAA… NC_000012.12:43798621:AAAAAAAAAAAAAAA:AAAAAAA	(self)
131937872, ss4916392215	NC_000012.12:43798621:AAAAA:	NC_000012.12:43798621:AAAAAAAAAAAA… NC_000012.12:43798621:AAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
3883442608	NC_000012.12:43798621:AAAAAAAAAAAA… NC_000012.12:43798621:AAAAAAAAAAAAAAA:AAAAAAAAAA	NC_000012.12:43798621:AAAAAAAAAAAA… NC_000012.12:43798621:AAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
	NC_000012.11:44192424:AAA:	NC_000012.12:43798621:AAAAAAAAAAAA… NC_000012.12:43798621:AAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss1712005957	NC_000012.11:44192424:AA:	NC_000012.12:43798621:AAAAAAAAAAAA… NC_000012.12:43798621:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss3693565432, ss4250848610	NC_000012.12:43798621:AA:	NC_000012.12:43798621:AAAAAAAAAAAA… NC_000012.12:43798621:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss1712005955, ss3009599235, ss5206070153, ss5936100761	NC_000012.11:44192424:A:	NC_000012.12:43798621:AAAAAAAAAAAA… NC_000012.12:43798621:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss5290618297, ss5485394680, ss5755785121	NC_000012.12:43798621:A:	NC_000012.12:43798621:AAAAAAAAAAAA… NC_000012.12:43798621:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
3883442608	NC_000012.12:43798621:AAAAAAAAAAAA… NC_000012.12:43798621:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000012.12:43798621:AAAAAAAAAAAA… NC_000012.12:43798621:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss3693565431	NC_000012.12:43798622:A:	NC_000012.12:43798621:AAAAAAAAAAAA… NC_000012.12:43798621:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss294749091	NC_000012.10:42478692::A	NC_000012.12:43798621:AAAAAAAAAAAA… NC_000012.12:43798621:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
350486, 12260932, ss1574495085, ss1712005954, ss3738976067, ss3833096607, ss3840119117, ss3984026214, ss5206070152, ss5624031846, ss5936100762	NC_000012.11:44192424::A	NC_000012.12:43798621:AAAAAAAAAAAA… NC_000012.12:43798621:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3649827692, ss3845605191, ss4250848607, ss5290618295, ss5485394679, ss5755785120, ss5850359020	NC_000012.12:43798621::A	NC_000012.12:43798621:AAAAAAAAAAAA… NC_000012.12:43798621:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
3883442608	NC_000012.12:43798621:AAAAAAAAAAAA… NC_000012.12:43798621:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000012.12:43798621:AAAAAAAAAAAA… NC_000012.12:43798621:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3693565430	NC_000012.12:43798623::A	NC_000012.12:43798621:AAAAAAAAAAAA… NC_000012.12:43798621:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss40156938, ss97270677	NT_029419.12:6335730::A	NC_000012.12:43798621:AAAAAAAAAAAA… NC_000012.12:43798621:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss80846918	NT_029419.12:6335745::A	NC_000012.12:43798621:AAAAAAAAAAAA… NC_000012.12:43798621:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss1712005956	NC_000012.11:44192424::AA	NC_000012.12:43798621:AAAAAAAAAAAA… NC_000012.12:43798621:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4250848608, ss5290618296, ss5485394681	NC_000012.12:43798621::AA	NC_000012.12:43798621:AAAAAAAAAAAA… NC_000012.12:43798621:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
3883442608	NC_000012.12:43798621:AAAAAAAAAAAA… NC_000012.12:43798621:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000012.12:43798621:AAAAAAAAAAAA… NC_000012.12:43798621:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3693565429	NC_000012.12:43798623::AA	NC_000012.12:43798621:AAAAAAAAAAAA… NC_000012.12:43798621:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
	NC_000012.11:44192424::AAA	NC_000012.12:43798621:AAAAAAAAAAAA… NC_000012.12:43798621:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss4250848609	NC_000012.12:43798621::AAA	NC_000012.12:43798621:AAAAAAAAAAAA… NC_000012.12:43798621:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(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 rs35482343

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

rs35482343