Name: rs11431127
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.

rs11431127

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr12:108520088-108520106 (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(T)₈ / del(T)₅ / del(T)₄ / delT…
del(T)₈ / del(T)₅ / del(T)₄ / delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)₄ / dup(T)₅ / dup(T)₆ / dup(T)₇
Variation Type: Indel Insertion and Deletion
Frequency: dupT=0.2140 (1145/5351, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: FICD : 3 Prime UTR 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	5351	TTTTTTTTTTTTTTTTTTT=0.6025	TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.2140, TTTTTTTTTTTTTTTTTTTTT=0.1643, TTTTTTTTTTTTTTTTTTTTTT=0.0155, TTTTTTTTTTTTTTTTTTTTTTTT=0.0019, TTTTTTTTTTTTTTTTTTTTTTT=0.0019, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0000	0.682175	0.146367	0.171458	32
European	Sub	4949	TTTTTTTTTTTTTTTTTTT=0.5714	TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.2308, TTTTTTTTTTTTTTTTTTTTT=0.1770, TTTTTTTTTTTTTTTTTTTTTT=0.0168, TTTTTTTTTTTTTTTTTTTTTTTT=0.0020, TTTTTTTTTTTTTTTTTTTTTTT=0.0020, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0000	0.645858	0.162777	0.191365	32
African	Sub	328	TTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
African Others	Sub	10	TTTTTTTTTTTTTTTTTTT=1.0	TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
African American	Sub	318	TTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
Asian	Sub	4	TTTTTTTTTTTTTTTTTTT=1.0	TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
East Asian	Sub	4	TTTTTTTTTTTTTTTTTTT=1.0	TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
Other Asian	Sub	0	TTTTTTTTTTTTTTTTTTT=0	TTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTT=0	0	0	0	N/A
Latin American 1	Sub	12	TTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	28	TTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
South Asian	Sub	0	TTTTTTTTTTTTTTTTTTT=0	TTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTT=0	0	0	0	N/A
Other	Sub	30	TTTTTTTTTTTTTTTTTTT=0.80	TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.10, TTTTTTTTTTTTTTTTTTTTT=0.10, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00	0.923077	0.076923	0.0	8

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	5351	(T)₁₉=0.6025	del(T)₅=0.0000, del(T)₄=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0000, dupT=0.2140, dupTT=0.1643, dupTTT=0.0155, dup(T)₄=0.0019, dup(T)₅=0.0019, dup(T)₆=0.0000
Allele Frequency Aggregator	European	Sub	4949	(T)₁₉=0.5714	del(T)₅=0.0000, del(T)₄=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0000, dupT=0.2308, dupTT=0.1770, dupTTT=0.0168, dup(T)₄=0.0020, dup(T)₅=0.0020, dup(T)₆=0.0000
Allele Frequency Aggregator	African	Sub	328	(T)₁₉=1.000	del(T)₅=0.000, del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₄=0.000, dup(T)₅=0.000, dup(T)₆=0.000
Allele Frequency Aggregator	Other	Sub	30	(T)₁₉=0.80	del(T)₅=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.10, dupTT=0.10, dupTTT=0.00, dup(T)₄=0.00, dup(T)₅=0.00, dup(T)₆=0.00
Allele Frequency Aggregator	Latin American 2	Sub	28	(T)₁₉=1.00	del(T)₅=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00, dup(T)₅=0.00, dup(T)₆=0.00
Allele Frequency Aggregator	Latin American 1	Sub	12	(T)₁₉=1.00	del(T)₅=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00, dup(T)₅=0.00, dup(T)₆=0.00
Allele Frequency Aggregator	Asian	Sub	4	(T)₁₉=1.0	del(T)₅=0.0, del(T)₄=0.0, delTTT=0.0, delTT=0.0, delT=0.0, dupT=0.0, dupTT=0.0, dupTTT=0.0, dup(T)₄=0.0, dup(T)₅=0.0, dup(T)₆=0.0
Allele Frequency Aggregator	South Asian	Sub	0	(T)₁₉=0	del(T)₅=0, del(T)₄=0, delTTT=0, delTT=0, delT=0, dupT=0, dupTT=0, dupTTT=0, dup(T)₄=0, dup(T)₅=0, dup(T)₆=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 12	NC_000012.12:g.108520099_108520106del
GRCh38.p14 chr 12	NC_000012.12:g.108520102_108520106del
GRCh38.p14 chr 12	NC_000012.12:g.108520103_108520106del
GRCh38.p14 chr 12	NC_000012.12:g.108520104_108520106del
GRCh38.p14 chr 12	NC_000012.12:g.108520105_108520106del
GRCh38.p14 chr 12	NC_000012.12:g.108520106del
GRCh38.p14 chr 12	NC_000012.12:g.108520106dup
GRCh38.p14 chr 12	NC_000012.12:g.108520105_108520106dup
GRCh38.p14 chr 12	NC_000012.12:g.108520104_108520106dup
GRCh38.p14 chr 12	NC_000012.12:g.108520103_108520106dup
GRCh38.p14 chr 12	NC_000012.12:g.108520102_108520106dup
GRCh38.p14 chr 12	NC_000012.12:g.108520101_108520106dup
GRCh38.p14 chr 12	NC_000012.12:g.108520100_108520106dup
GRCh37.p13 chr 12	NC_000012.11:g.108913876_108913883del
GRCh37.p13 chr 12	NC_000012.11:g.108913879_108913883del
GRCh37.p13 chr 12	NC_000012.11:g.108913880_108913883del
GRCh37.p13 chr 12	NC_000012.11:g.108913881_108913883del
GRCh37.p13 chr 12	NC_000012.11:g.108913882_108913883del
GRCh37.p13 chr 12	NC_000012.11:g.108913883del
GRCh37.p13 chr 12	NC_000012.11:g.108913883dup
GRCh37.p13 chr 12	NC_000012.11:g.108913882_108913883dup
GRCh37.p13 chr 12	NC_000012.11:g.108913881_108913883dup
GRCh37.p13 chr 12	NC_000012.11:g.108913880_108913883dup
GRCh37.p13 chr 12	NC_000012.11:g.108913879_108913883dup
GRCh37.p13 chr 12	NC_000012.11:g.108913878_108913883dup
GRCh37.p13 chr 12	NC_000012.11:g.108913877_108913883dup

Gene: FICD, FIC domain protein adenylyltransferase (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
FICD transcript	NM_007076.3:c.613_631=	N/A	3 Prime UTR Variant

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement	(T)₁₉=	del(T)₈	del(T)₅	del(T)₄	delTTT	delTT	delT	dupT	dupTT	dupTTT	dup(T)₄	dup(T)₅	dup(T)₆	dup(T)₇
GRCh38.p14 chr 12	NC_000012.12:g.108520088_108520106=	NC_000012.12:g.108520099_108520106del	NC_000012.12:g.108520102_108520106del	NC_000012.12:g.108520103_108520106del	NC_000012.12:g.108520104_108520106del	NC_000012.12:g.108520105_108520106del	NC_000012.12:g.108520106del	NC_000012.12:g.108520106dup	NC_000012.12:g.108520105_108520106dup	NC_000012.12:g.108520104_108520106dup	NC_000012.12:g.108520103_108520106dup	NC_000012.12:g.108520102_108520106dup	NC_000012.12:g.108520101_108520106dup	NC_000012.12:g.108520100_108520106dup
GRCh37.p13 chr 12	NC_000012.11:g.108913865_108913883=	NC_000012.11:g.108913876_108913883del	NC_000012.11:g.108913879_108913883del	NC_000012.11:g.108913880_108913883del	NC_000012.11:g.108913881_108913883del	NC_000012.11:g.108913882_108913883del	NC_000012.11:g.108913883del	NC_000012.11:g.108913883dup	NC_000012.11:g.108913882_108913883dup	NC_000012.11:g.108913881_108913883dup	NC_000012.11:g.108913880_108913883dup	NC_000012.11:g.108913879_108913883dup	NC_000012.11:g.108913878_108913883dup	NC_000012.11:g.108913877_108913883dup
FICD transcript	NM_007076.3:c.613_631=	NM_007076.3:c.624_631del	NM_007076.3:c.627_631del	NM_007076.3:c.628_631del	NM_007076.3:c.629_631del	NM_007076.3:c.630_631del	NM_007076.3:c.*631del	NM_007076.3:c.*631dup	NM_007076.3:c.630_631dup	NM_007076.3:c.629_631dup	NM_007076.3:c.628_631dup	NM_007076.3:c.627_631dup	NM_007076.3:c.626_631dup	NM_007076.3:c.625_631dup

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#.

58 SubSNP, 30 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss40202294	Mar 13, 2006 (126)
2	HGSV	ss83221692	Dec 15, 2007 (129)
3	HUMANGENOME_JCVI	ss95966952	Feb 06, 2009 (130)
4	PJP	ss294773822	Oct 12, 2018 (152)
5	PJP	ss294773823	Oct 12, 2018 (152)
6	EVA_UK10K_ALSPAC	ss1707618317	Apr 01, 2015 (144)
7	EVA_UK10K_ALSPAC	ss1707618319	Apr 01, 2015 (144)
8	EVA_UK10K_ALSPAC	ss1707618320	Apr 01, 2015 (144)
9	EVA_UK10K_TWINSUK	ss1707618341	Apr 01, 2015 (144)
10	EVA_UK10K_TWINSUK	ss1707618342	Apr 01, 2015 (144)
11	EVA_UK10K_TWINSUK	ss1707618343	Apr 01, 2015 (144)
12	SWEGEN	ss3010321996	Nov 08, 2017 (151)
13	SWEGEN	ss3010321997	Nov 08, 2017 (151)
14	SWEGEN	ss3010321998	Nov 08, 2017 (151)
15	EVA_DECODE	ss3694433337	Jul 13, 2019 (153)
16	EVA_DECODE	ss3694433338	Jul 13, 2019 (153)
17	EVA_DECODE	ss3694433339	Jul 13, 2019 (153)
18	EVA_DECODE	ss3694433340	Jul 13, 2019 (153)
19	EVA_DECODE	ss3694433341	Jul 13, 2019 (153)
20	PACBIO	ss3787331766	Jul 13, 2019 (153)
21	PACBIO	ss3792415329	Jul 13, 2019 (153)
22	PACBIO	ss3797298392	Jul 13, 2019 (153)
23	EVA	ss3833320590	Apr 27, 2020 (154)
24	EVA	ss3840232497	Apr 27, 2020 (154)
25	EVA	ss3845720986	Apr 27, 2020 (154)
26	GNOMAD	ss4258722330	Apr 26, 2021 (155)
27	GNOMAD	ss4258722332	Apr 26, 2021 (155)
28	GNOMAD	ss4258722334	Apr 26, 2021 (155)
29	GNOMAD	ss4258722335	Apr 26, 2021 (155)
30	GNOMAD	ss4258722336	Apr 26, 2021 (155)
31	GNOMAD	ss4258722337	Apr 26, 2021 (155)
32	GNOMAD	ss4258722338	Apr 26, 2021 (155)
33	GNOMAD	ss4258722339	Apr 26, 2021 (155)
34	GNOMAD	ss4258722340	Apr 26, 2021 (155)
35	GNOMAD	ss4258722341	Apr 26, 2021 (155)
36	GNOMAD	ss4258722342	Apr 26, 2021 (155)
37	GNOMAD	ss4258722343	Apr 26, 2021 (155)
38	GNOMAD	ss4258722344	Apr 26, 2021 (155)
39	TOMMO_GENOMICS	ss5208088465	Apr 26, 2021 (155)
40	TOMMO_GENOMICS	ss5208088466	Apr 26, 2021 (155)
41	TOMMO_GENOMICS	ss5208088467	Apr 26, 2021 (155)
42	TOMMO_GENOMICS	ss5208088468	Apr 26, 2021 (155)
43	TOMMO_GENOMICS	ss5208088469	Apr 26, 2021 (155)
44	1000G_HIGH_COVERAGE	ss5292176429	Oct 16, 2022 (156)
45	1000G_HIGH_COVERAGE	ss5292176430	Oct 16, 2022 (156)
46	HUGCELL_USP	ss5486785841	Oct 16, 2022 (156)
47	HUGCELL_USP	ss5486785842	Oct 16, 2022 (156)
48	HUGCELL_USP	ss5486785843	Oct 16, 2022 (156)
49	HUGCELL_USP	ss5486785844	Oct 16, 2022 (156)
50	HUGCELL_USP	ss5486785845	Oct 16, 2022 (156)
51	TOMMO_GENOMICS	ss5758384465	Oct 16, 2022 (156)
52	TOMMO_GENOMICS	ss5758384466	Oct 16, 2022 (156)
53	TOMMO_GENOMICS	ss5758384467	Oct 16, 2022 (156)
54	TOMMO_GENOMICS	ss5758384469	Oct 16, 2022 (156)
55	TOMMO_GENOMICS	ss5758384470	Oct 16, 2022 (156)
56	EVA	ss5838491618	Oct 16, 2022 (156)
57	EVA	ss5838491619	Oct 16, 2022 (156)
58	EVA	ss5850541735	Oct 16, 2022 (156)
59	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 32980124 (NC_000012.11:108913864::T 2303/3854) Row 32980125 (NC_000012.11:108913864::TT 1261/3854) Row 32980126 (NC_000012.11:108913864::TTT 231/3854)	-	Oct 12, 2018 (152)
60	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 32980124 (NC_000012.11:108913864::T 2303/3854) Row 32980125 (NC_000012.11:108913864::TT 1261/3854) Row 32980126 (NC_000012.11:108913864::TTT 231/3854)	-	Oct 12, 2018 (152)
61	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 32980124 (NC_000012.11:108913864::T 2303/3854) Row 32980125 (NC_000012.11:108913864::TT 1261/3854) Row 32980126 (NC_000012.11:108913864::TTT 231/3854)	-	Oct 12, 2018 (152)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 418851487 (NC_000012.12:108520087::T 44865/104736) Row 418851489 (NC_000012.12:108520087::TT 25315/104702) Row 418851491 (NC_000012.12:108520087::TTT 4242/104726)...	-	Apr 26, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 418851487 (NC_000012.12:108520087::T 44865/104736) Row 418851489 (NC_000012.12:108520087::TT 25315/104702) Row 418851491 (NC_000012.12:108520087::TTT 4242/104726)...	-	Apr 26, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 418851487 (NC_000012.12:108520087::T 44865/104736) Row 418851489 (NC_000012.12:108520087::TT 25315/104702) Row 418851491 (NC_000012.12:108520087::TTT 4242/104726)...	-	Apr 26, 2021 (155)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 418851487 (NC_000012.12:108520087::T 44865/104736) Row 418851489 (NC_000012.12:108520087::TT 25315/104702) Row 418851491 (NC_000012.12:108520087::TTT 4242/104726)...	-	Apr 26, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 418851487 (NC_000012.12:108520087::T 44865/104736) Row 418851489 (NC_000012.12:108520087::TT 25315/104702) Row 418851491 (NC_000012.12:108520087::TTT 4242/104726)...	-	Apr 26, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 418851487 (NC_000012.12:108520087::T 44865/104736) Row 418851489 (NC_000012.12:108520087::TT 25315/104702) Row 418851491 (NC_000012.12:108520087::TTT 4242/104726)...	-	Apr 26, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 418851487 (NC_000012.12:108520087::T 44865/104736) Row 418851489 (NC_000012.12:108520087::TT 25315/104702) Row 418851491 (NC_000012.12:108520087::TTT 4242/104726)...	-	Apr 26, 2021 (155)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 418851487 (NC_000012.12:108520087::T 44865/104736) Row 418851489 (NC_000012.12:108520087::TT 25315/104702) Row 418851491 (NC_000012.12:108520087::TTT 4242/104726)...	-	Apr 26, 2021 (155)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 418851487 (NC_000012.12:108520087::T 44865/104736) Row 418851489 (NC_000012.12:108520087::TT 25315/104702) Row 418851491 (NC_000012.12:108520087::TTT 4242/104726)...	-	Apr 26, 2021 (155)
71	gnomAD - Genomes Submission ignored due to conflicting rows: Row 418851487 (NC_000012.12:108520087::T 44865/104736) Row 418851489 (NC_000012.12:108520087::TT 25315/104702) Row 418851491 (NC_000012.12:108520087::TTT 4242/104726)...	-	Apr 26, 2021 (155)
72	gnomAD - Genomes Submission ignored due to conflicting rows: Row 418851487 (NC_000012.12:108520087::T 44865/104736) Row 418851489 (NC_000012.12:108520087::TT 25315/104702) Row 418851491 (NC_000012.12:108520087::TTT 4242/104726)...	-	Apr 26, 2021 (155)
73	gnomAD - Genomes Submission ignored due to conflicting rows: Row 418851487 (NC_000012.12:108520087::T 44865/104736) Row 418851489 (NC_000012.12:108520087::TT 25315/104702) Row 418851491 (NC_000012.12:108520087::TTT 4242/104726)...	-	Apr 26, 2021 (155)
74	gnomAD - Genomes Submission ignored due to conflicting rows: Row 418851487 (NC_000012.12:108520087::T 44865/104736) Row 418851489 (NC_000012.12:108520087::TT 25315/104702) Row 418851491 (NC_000012.12:108520087::TTT 4242/104726)...	-	Apr 26, 2021 (155)
75	8.3KJPN Submission ignored due to conflicting rows: Row 66057772 (NC_000012.11:108913864::TT 5462/15894) Row 66057773 (NC_000012.11:108913864::T 6588/15894) Row 66057774 (NC_000012.11:108913864::TTT 2244/15894)...	-	Apr 26, 2021 (155)
76	8.3KJPN Submission ignored due to conflicting rows: Row 66057772 (NC_000012.11:108913864::TT 5462/15894) Row 66057773 (NC_000012.11:108913864::T 6588/15894) Row 66057774 (NC_000012.11:108913864::TTT 2244/15894)...	-	Apr 26, 2021 (155)
77	8.3KJPN Submission ignored due to conflicting rows: Row 66057772 (NC_000012.11:108913864::TT 5462/15894) Row 66057773 (NC_000012.11:108913864::T 6588/15894) Row 66057774 (NC_000012.11:108913864::TTT 2244/15894)...	-	Apr 26, 2021 (155)
78	8.3KJPN Submission ignored due to conflicting rows: Row 66057772 (NC_000012.11:108913864::TT 5462/15894) Row 66057773 (NC_000012.11:108913864::T 6588/15894) Row 66057774 (NC_000012.11:108913864::TTT 2244/15894)...	-	Apr 26, 2021 (155)
79	8.3KJPN Submission ignored due to conflicting rows: Row 66057772 (NC_000012.11:108913864::TT 5462/15894) Row 66057773 (NC_000012.11:108913864::T 6588/15894) Row 66057774 (NC_000012.11:108913864::TTT 2244/15894)...	-	Apr 26, 2021 (155)
80	14KJPN Submission ignored due to conflicting rows: Row 92221569 (NC_000012.12:108520087::TT 9552/28078) Row 92221570 (NC_000012.12:108520087::T 11472/28078) Row 92221571 (NC_000012.12:108520087::TTT 3591/28078)...	-	Oct 16, 2022 (156)
81	14KJPN Submission ignored due to conflicting rows: Row 92221569 (NC_000012.12:108520087::TT 9552/28078) Row 92221570 (NC_000012.12:108520087::T 11472/28078) Row 92221571 (NC_000012.12:108520087::TTT 3591/28078)...	-	Oct 16, 2022 (156)
82	14KJPN Submission ignored due to conflicting rows: Row 92221569 (NC_000012.12:108520087::TT 9552/28078) Row 92221570 (NC_000012.12:108520087::T 11472/28078) Row 92221571 (NC_000012.12:108520087::TTT 3591/28078)...	-	Oct 16, 2022 (156)
83	14KJPN Submission ignored due to conflicting rows: Row 92221569 (NC_000012.12:108520087::TT 9552/28078) Row 92221570 (NC_000012.12:108520087::T 11472/28078) Row 92221571 (NC_000012.12:108520087::TTT 3591/28078)...	-	Oct 16, 2022 (156)
84	14KJPN Submission ignored due to conflicting rows: Row 92221569 (NC_000012.12:108520087::TT 9552/28078) Row 92221570 (NC_000012.12:108520087::T 11472/28078) Row 92221571 (NC_000012.12:108520087::TTT 3591/28078)...	-	Oct 16, 2022 (156)
85	UK 10K study - Twins Submission ignored due to conflicting rows: Row 32980124 (NC_000012.11:108913864::T 2276/3708) Row 32980125 (NC_000012.11:108913864::TT 1169/3708) Row 32980126 (NC_000012.11:108913864::TTT 214/3708)	-	Oct 12, 2018 (152)
86	UK 10K study - Twins Submission ignored due to conflicting rows: Row 32980124 (NC_000012.11:108913864::T 2276/3708) Row 32980125 (NC_000012.11:108913864::TT 1169/3708) Row 32980126 (NC_000012.11:108913864::TTT 214/3708)	-	Oct 12, 2018 (152)
87	UK 10K study - Twins Submission ignored due to conflicting rows: Row 32980124 (NC_000012.11:108913864::T 2276/3708) Row 32980125 (NC_000012.11:108913864::TT 1169/3708) Row 32980126 (NC_000012.11:108913864::TTT 214/3708)	-	Oct 12, 2018 (152)
88	ALFA	NC_000012.12 - 108520088	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
ss4258722344	NC_000012.12:108520087:TTTTTTTT:	NC_000012.12:108520087:TTTTTTTTTTT… NC_000012.12:108520087:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss4258722343	NC_000012.12:108520087:TTTTT:	NC_000012.12:108520087:TTTTTTTTTTT… NC_000012.12:108520087:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
4749259341	NC_000012.12:108520087:TTTTTTTTTTT… NC_000012.12:108520087:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	NC_000012.12:108520087:TTTTTTTTTTT… NC_000012.12:108520087:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss4258722342	NC_000012.12:108520087:TTTT:	NC_000012.12:108520087:TTTTTTTTTTT… NC_000012.12:108520087:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
4749259341	NC_000012.12:108520087:TTTTTTTTTTT… NC_000012.12:108520087:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	NC_000012.12:108520087:TTTTTTTTTTT… NC_000012.12:108520087:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss4258722341	NC_000012.12:108520087:TTT:	NC_000012.12:108520087:TTTTTTTTTTT… NC_000012.12:108520087:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
4749259341	NC_000012.12:108520087:TTTTTTTTTTT… NC_000012.12:108520087:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000012.12:108520087:TTTTTTTTTTT… NC_000012.12:108520087:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss4258722340	NC_000012.12:108520087:TT:	NC_000012.12:108520087:TTTTTTTTTTT… NC_000012.12:108520087:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
4749259341	NC_000012.12:108520087:TTTTTTTTTTT… NC_000012.12:108520087:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000012.12:108520087:TTTTTTTTTTT… NC_000012.12:108520087:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss3694433337, ss4258722339, ss5486785844	NC_000012.12:108520087:T:	NC_000012.12:108520087:TTTTTTTTTTT… NC_000012.12:108520087:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
4749259341	NC_000012.12:108520087:TTTTTTTTTTT… NC_000012.12:108520087:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000012.12:108520087:TTTTTTTTTTT… NC_000012.12:108520087:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss294773822	NC_000012.10:107437995::T	NC_000012.12:108520087:TTTTTTTTTTT… NC_000012.12:108520087:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss294773823	NC_000012.10:107438013::T	NC_000012.12:108520087:TTTTTTTTTTT… NC_000012.12:108520087:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss1707618317, ss1707618341, ss3010321996, ss3833320590, ss3840232497, ss5208088466	NC_000012.11:108913864::T	NC_000012.12:108520087:TTTTTTTTTTT… NC_000012.12:108520087:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss3845720986, ss4258722330, ss5292176429, ss5486785841, ss5758384466, ss5850541735	NC_000012.12:108520087::T	NC_000012.12:108520087:TTTTTTTTTTT… NC_000012.12:108520087:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
4749259341	NC_000012.12:108520087:TTTTTTTTTTT… NC_000012.12:108520087:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	NC_000012.12:108520087:TTTTTTTTTTT… NC_000012.12:108520087:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss3694433338	NC_000012.12:108520088::T	NC_000012.12:108520087:TTTTTTTTTTT… NC_000012.12:108520087:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss40202294	NT_029419.12:71057170::T	NC_000012.12:108520087:TTTTTTTTTTT… NC_000012.12:108520087:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss95966952	NT_029419.12:71057189::T	NC_000012.12:108520087:TTTTTTTTTTT… NC_000012.12:108520087:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss1707618319, ss1707618342, ss3010321998, ss3787331766, ss3792415329, ss3797298392, ss5208088465, ss5838491618	NC_000012.11:108913864::TT	NC_000012.12:108520087:TTTTTTTTTTT… NC_000012.12:108520087:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss4258722332, ss5486785842, ss5758384465	NC_000012.12:108520087::TT	NC_000012.12:108520087:TTTTTTTTTTT… NC_000012.12:108520087:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
4749259341	NC_000012.12:108520087:TTTTTTTTTTT… NC_000012.12:108520087:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	NC_000012.12:108520087:TTTTTTTTTTT… NC_000012.12:108520087:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss3694433339	NC_000012.12:108520088::TT	NC_000012.12:108520087:TTTTTTTTTTT… NC_000012.12:108520087:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss1707618320, ss1707618343, ss3010321997, ss5208088467, ss5838491619	NC_000012.11:108913864::TTT	NC_000012.12:108520087:TTTTTTTTTTT… NC_000012.12:108520087:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss4258722334, ss5292176430, ss5486785843, ss5758384467	NC_000012.12:108520087::TTT	NC_000012.12:108520087:TTTTTTTTTTT… NC_000012.12:108520087:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
4749259341	NC_000012.12:108520087:TTTTTTTTTTT… NC_000012.12:108520087:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	NC_000012.12:108520087:TTTTTTTTTTT… NC_000012.12:108520087:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss3694433340	NC_000012.12:108520088::TTT	NC_000012.12:108520087:TTTTTTTTTTT… NC_000012.12:108520087:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss5208088468	NC_000012.11:108913864::TTTT	NC_000012.12:108520087:TTTTTTTTTTT… NC_000012.12:108520087:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4258722335, ss5486785845, ss5758384469	NC_000012.12:108520087::TTTT	NC_000012.12:108520087:TTTTTTTTTTT… NC_000012.12:108520087:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
4749259341	NC_000012.12:108520087:TTTTTTTTTTT… NC_000012.12:108520087:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	NC_000012.12:108520087:TTTTTTTTTTT… NC_000012.12:108520087:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss83221692	NT_029419.12:71057189::TTTT	NC_000012.12:108520087:TTTTTTTTTTT… NC_000012.12:108520087:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss5208088469	NC_000012.11:108913864::TTTTT	NC_000012.12:108520087:TTTTTTTTTTT… NC_000012.12:108520087:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4258722336, ss5758384470	NC_000012.12:108520087::TTTTT	NC_000012.12:108520087:TTTTTTTTTTT… NC_000012.12:108520087:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
4749259341	NC_000012.12:108520087:TTTTTTTTTTT… NC_000012.12:108520087:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	NC_000012.12:108520087:TTTTTTTTTTT… NC_000012.12:108520087:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4258722337	NC_000012.12:108520087::TTTTTT	NC_000012.12:108520087:TTTTTTTTTTT… NC_000012.12:108520087:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
4749259341	NC_000012.12:108520087:TTTTTTTTTTT… NC_000012.12:108520087:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	NC_000012.12:108520087:TTTTTTTTTTT… NC_000012.12:108520087:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4258722338	NC_000012.12:108520087::TTTTTTT	NC_000012.12:108520087:TTTTTTTTTTT… NC_000012.12:108520087:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3694433341	NC_000012.12:108520088::TTTTTTT	NC_000012.12:108520087:TTTTTTTTTTT… NC_000012.12:108520087:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(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 rs11431127

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

rs11431127