Name: rs1311215813
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.

rs1311215813

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:203769774-203769784 (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: delGG / delG / dupG / dupGG / dupG…
delGG / delG / dupG / dupGG / dupGGG / dup(G)₄ / dup(G)₅ / dup(G)₆ / dup(G)₇ / dup(G)₈ / dup(G)₉ / dup(G)₁₀ / dup(G)₁₁ / ins(G)₁₂ / ins(G)₁₃ / ins(G)₁₄ / ins(G)₁₅ / ins(G)₁₆
Variation Type: Indel Insertion and Deletion
Frequency: delGG=0.0000 (0/8062, ALFA)
delG=0.0000 (0/8062, ALFA)
dupG=0.0000 (0/8062, ALFA) (+ 3 more)
dupGG=0.0000 (0/8062, ALFA)
dupGGG=0.0000 (0/8062, ALFA)
dup(G)₄=0.0000 (0/8062, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: LAX1 : 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	HWEP
Total	Global	8062	GGGGGGGGGGG=1.0000	GGGGGGGGG=0.0000, GGGGGGGGGG=0.0000, GGGGGGGGGGGG=0.0000, GGGGGGGGGGGGG=0.0000, GGGGGGGGGGGGGG=0.0000, GGGGGGGGGGGGGGG=0.0000	1.0	N/A
European	Sub	5510	GGGGGGGGGGG=1.0000	GGGGGGGGG=0.0000, GGGGGGGGGG=0.0000, GGGGGGGGGGGG=0.0000, GGGGGGGGGGGGG=0.0000, GGGGGGGGGGGGGG=0.0000, GGGGGGGGGGGGGGG=0.0000	1.0	N/A
African	Sub	1432	GGGGGGGGGGG=1.0000	GGGGGGGGG=0.0000, GGGGGGGGGG=0.0000, GGGGGGGGGGGG=0.0000, GGGGGGGGGGGGG=0.0000, GGGGGGGGGGGGGG=0.0000, GGGGGGGGGGGGGGG=0.0000	1.0	N/A
African Others	Sub	52	GGGGGGGGGGG=1.00	GGGGGGGGG=0.00, GGGGGGGGGG=0.00, GGGGGGGGGGGG=0.00, GGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGGG=0.00	1.0	N/A
African American	Sub	1380	GGGGGGGGGGG=1.0000	GGGGGGGGG=0.0000, GGGGGGGGGG=0.0000, GGGGGGGGGGGG=0.0000, GGGGGGGGGGGGG=0.0000, GGGGGGGGGGGGGG=0.0000, GGGGGGGGGGGGGGG=0.0000	1.0	N/A
Asian	Sub	84	GGGGGGGGGGG=1.00	GGGGGGGGG=0.00, GGGGGGGGGG=0.00, GGGGGGGGGGGG=0.00, GGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGGG=0.00	1.0	N/A
East Asian	Sub	68	GGGGGGGGGGG=1.00	GGGGGGGGG=0.00, GGGGGGGGGG=0.00, GGGGGGGGGGGG=0.00, GGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGGG=0.00	1.0	N/A
Other Asian	Sub	16	GGGGGGGGGGG=1.00	GGGGGGGGG=0.00, GGGGGGGGGG=0.00, GGGGGGGGGGGG=0.00, GGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGGG=0.00	1.0	N/A
Latin American 1	Sub	108	GGGGGGGGGGG=1.000	GGGGGGGGG=0.000, GGGGGGGGGG=0.000, GGGGGGGGGGGG=0.000, GGGGGGGGGGGGG=0.000, GGGGGGGGGGGGGG=0.000, GGGGGGGGGGGGGGG=0.000	1.0	N/A
Latin American 2	Sub	518	GGGGGGGGGGG=1.000	GGGGGGGGG=0.000, GGGGGGGGGG=0.000, GGGGGGGGGGGG=0.000, GGGGGGGGGGGGG=0.000, GGGGGGGGGGGGGG=0.000, GGGGGGGGGGGGGGG=0.000	1.0	N/A
South Asian	Sub	72	GGGGGGGGGGG=1.00	GGGGGGGGG=0.00, GGGGGGGGGG=0.00, GGGGGGGGGGGG=0.00, GGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGGG=0.00	1.0	N/A
Other	Sub	338	GGGGGGGGGGG=1.000	GGGGGGGGG=0.000, GGGGGGGGGG=0.000, GGGGGGGGGGGG=0.000, GGGGGGGGGGGGG=0.000, GGGGGGGGGGGGGG=0.000, GGGGGGGGGGGGGGG=0.000	1.0	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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	8062	(G)₁₁=1.0000	delGG=0.0000, delG=0.0000, dupG=0.0000, dupGG=0.0000, dupGGG=0.0000, dup(G)₄=0.0000
Allele Frequency Aggregator	European	Sub	5510	(G)₁₁=1.0000	delGG=0.0000, delG=0.0000, dupG=0.0000, dupGG=0.0000, dupGGG=0.0000, dup(G)₄=0.0000
Allele Frequency Aggregator	African	Sub	1432	(G)₁₁=1.0000	delGG=0.0000, delG=0.0000, dupG=0.0000, dupGG=0.0000, dupGGG=0.0000, dup(G)₄=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	518	(G)₁₁=1.000	delGG=0.000, delG=0.000, dupG=0.000, dupGG=0.000, dupGGG=0.000, dup(G)₄=0.000
Allele Frequency Aggregator	Other	Sub	338	(G)₁₁=1.000	delGG=0.000, delG=0.000, dupG=0.000, dupGG=0.000, dupGGG=0.000, dup(G)₄=0.000
Allele Frequency Aggregator	Latin American 1	Sub	108	(G)₁₁=1.000	delGG=0.000, delG=0.000, dupG=0.000, dupGG=0.000, dupGGG=0.000, dup(G)₄=0.000
Allele Frequency Aggregator	Asian	Sub	84	(G)₁₁=1.00	delGG=0.00, delG=0.00, dupG=0.00, dupGG=0.00, dupGGG=0.00, dup(G)₄=0.00
Allele Frequency Aggregator	South Asian	Sub	72	(G)₁₁=1.00	delGG=0.00, delG=0.00, dupG=0.00, dupGG=0.00, dupGGG=0.00, dup(G)₄=0.00

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 1	NC_000001.11:g.203769783_203769784del
GRCh38.p14 chr 1	NC_000001.11:g.203769784del
GRCh38.p14 chr 1	NC_000001.11:g.203769784dup
GRCh38.p14 chr 1	NC_000001.11:g.203769783_203769784dup
GRCh38.p14 chr 1	NC_000001.11:g.203769782_203769784dup
GRCh38.p14 chr 1	NC_000001.11:g.203769781_203769784dup
GRCh38.p14 chr 1	NC_000001.11:g.203769780_203769784dup
GRCh38.p14 chr 1	NC_000001.11:g.203769779_203769784dup
GRCh38.p14 chr 1	NC_000001.11:g.203769778_203769784dup
GRCh38.p14 chr 1	NC_000001.11:g.203769777_203769784dup
GRCh38.p14 chr 1	NC_000001.11:g.203769776_203769784dup
GRCh38.p14 chr 1	NC_000001.11:g.203769775_203769784dup
GRCh38.p14 chr 1	NC_000001.11:g.203769774_203769784dup
GRCh38.p14 chr 1	NC_000001.11:g.203769784_203769785insGGGGGGGGGGGG
GRCh38.p14 chr 1	NC_000001.11:g.203769784_203769785insGGGGGGGGGGGGG
GRCh38.p14 chr 1	NC_000001.11:g.203769784_203769785insGGGGGGGGGGGGGG
GRCh38.p14 chr 1	NC_000001.11:g.203769784_203769785insGGGGGGGGGGGGGGG
GRCh38.p14 chr 1	NC_000001.11:g.203769784_203769785insGGGGGGGGGGGGGGGG
GRCh37.p13 chr 1	NC_000001.10:g.203738911_203738912del
GRCh37.p13 chr 1	NC_000001.10:g.203738912del
GRCh37.p13 chr 1	NC_000001.10:g.203738912dup
GRCh37.p13 chr 1	NC_000001.10:g.203738911_203738912dup
GRCh37.p13 chr 1	NC_000001.10:g.203738910_203738912dup
GRCh37.p13 chr 1	NC_000001.10:g.203738909_203738912dup
GRCh37.p13 chr 1	NC_000001.10:g.203738908_203738912dup
GRCh37.p13 chr 1	NC_000001.10:g.203738907_203738912dup
GRCh37.p13 chr 1	NC_000001.10:g.203738906_203738912dup
GRCh37.p13 chr 1	NC_000001.10:g.203738905_203738912dup
GRCh37.p13 chr 1	NC_000001.10:g.203738904_203738912dup
GRCh37.p13 chr 1	NC_000001.10:g.203738903_203738912dup
GRCh37.p13 chr 1	NC_000001.10:g.203738902_203738912dup
GRCh37.p13 chr 1	NC_000001.10:g.203738912_203738913insGGGGGGGGGGGG
GRCh37.p13 chr 1	NC_000001.10:g.203738912_203738913insGGGGGGGGGGGGG
GRCh37.p13 chr 1	NC_000001.10:g.203738912_203738913insGGGGGGGGGGGGGG
GRCh37.p13 chr 1	NC_000001.10:g.203738912_203738913insGGGGGGGGGGGGGGG
GRCh37.p13 chr 1	NC_000001.10:g.203738912_203738913insGGGGGGGGGGGGGGGG

Gene: LAX1, lymphocyte transmembrane adaptor 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LAX1 transcript variant 2	NM_001136190.2:c.42-1045_… NM_001136190.2:c.42-1045_42-1044del	N/A	Intron Variant
LAX1 transcript variant 3	NM_001282878.1:c.-140+87_… NM_001282878.1:c.-140+87_-140+88del	N/A	Intron Variant
LAX1 transcript variant 1	NM_017773.4:c.90-1045_90-… NM_017773.4:c.90-1045_90-1044del	N/A	Intron Variant
LAX1 transcript variant X1	XM_006711397.4:c.90-1045_… XM_006711397.4:c.90-1045_90-1044del	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	(G)₁₁=	delGG	delG	dupG	dupGG	dupGGG	dup(G)₄	dup(G)₅	dup(G)₆	dup(G)₇	dup(G)₈	dup(G)₉	dup(G)₁₀	dup(G)₁₁	ins(G)₁₂	ins(G)₁₃	ins(G)₁₄	ins(G)₁₅	ins(G)₁₆
GRCh38.p14 chr 1	NC_000001.11:g.203769774_203769784=	NC_000001.11:g.203769783_203769784del	NC_000001.11:g.203769784del	NC_000001.11:g.203769784dup	NC_000001.11:g.203769783_203769784dup	NC_000001.11:g.203769782_203769784dup	NC_000001.11:g.203769781_203769784dup	NC_000001.11:g.203769780_203769784dup	NC_000001.11:g.203769779_203769784dup	NC_000001.11:g.203769778_203769784dup	NC_000001.11:g.203769777_203769784dup	NC_000001.11:g.203769776_203769784dup	NC_000001.11:g.203769775_203769784dup	NC_000001.11:g.203769774_203769784dup	NC_000001.11:g.203769784_203769785insGGGGGGGGGGGG	NC_000001.11:g.203769784_203769785insGGGGGGGGGGGGG	NC_000001.11:g.203769784_203769785insGGGGGGGGGGGGGG	NC_000001.11:g.203769784_203769785insGGGGGGGGGGGGGGG	NC_000001.11:g.203769784_203769785insGGGGGGGGGGGGGGGG
GRCh37.p13 chr 1	NC_000001.10:g.203738902_203738912=	NC_000001.10:g.203738911_203738912del	NC_000001.10:g.203738912del	NC_000001.10:g.203738912dup	NC_000001.10:g.203738911_203738912dup	NC_000001.10:g.203738910_203738912dup	NC_000001.10:g.203738909_203738912dup	NC_000001.10:g.203738908_203738912dup	NC_000001.10:g.203738907_203738912dup	NC_000001.10:g.203738906_203738912dup	NC_000001.10:g.203738905_203738912dup	NC_000001.10:g.203738904_203738912dup	NC_000001.10:g.203738903_203738912dup	NC_000001.10:g.203738902_203738912dup	NC_000001.10:g.203738912_203738913insGGGGGGGGGGGG	NC_000001.10:g.203738912_203738913insGGGGGGGGGGGGG	NC_000001.10:g.203738912_203738913insGGGGGGGGGGGGGG	NC_000001.10:g.203738912_203738913insGGGGGGGGGGGGGGG	NC_000001.10:g.203738912_203738913insGGGGGGGGGGGGGGGG
LAX1 transcript variant 2	NM_001136190.1:c.42-1054=	NM_001136190.1:c.42-1045_42-1044del	NM_001136190.1:c.42-1044del	NM_001136190.1:c.42-1044dup	NM_001136190.1:c.42-1045_42-1044dup	NM_001136190.1:c.42-1046_42-1044dup	NM_001136190.1:c.42-1047_42-1044dup	NM_001136190.1:c.42-1048_42-1044dup	NM_001136190.1:c.42-1049_42-1044dup	NM_001136190.1:c.42-1050_42-1044dup	NM_001136190.1:c.42-1051_42-1044dup	NM_001136190.1:c.42-1052_42-1044dup	NM_001136190.1:c.42-1053_42-1044dup	NM_001136190.1:c.42-1054_42-1044dup	NM_001136190.1:c.42-1044_42-1043insGGGGGGGGGGGG	NM_001136190.1:c.42-1044_42-1043insGGGGGGGGGGGGG	NM_001136190.1:c.42-1044_42-1043insGGGGGGGGGGGGGG	NM_001136190.1:c.42-1044_42-1043insGGGGGGGGGGGGGGG	NM_001136190.1:c.42-1044_42-1043insGGGGGGGGGGGGGGGG
LAX1 transcript variant 2	NM_001136190.2:c.42-1054=	NM_001136190.2:c.42-1045_42-1044del	NM_001136190.2:c.42-1044del	NM_001136190.2:c.42-1044dup	NM_001136190.2:c.42-1045_42-1044dup	NM_001136190.2:c.42-1046_42-1044dup	NM_001136190.2:c.42-1047_42-1044dup	NM_001136190.2:c.42-1048_42-1044dup	NM_001136190.2:c.42-1049_42-1044dup	NM_001136190.2:c.42-1050_42-1044dup	NM_001136190.2:c.42-1051_42-1044dup	NM_001136190.2:c.42-1052_42-1044dup	NM_001136190.2:c.42-1053_42-1044dup	NM_001136190.2:c.42-1054_42-1044dup	NM_001136190.2:c.42-1044_42-1043insGGGGGGGGGGGG	NM_001136190.2:c.42-1044_42-1043insGGGGGGGGGGGGG	NM_001136190.2:c.42-1044_42-1043insGGGGGGGGGGGGGG	NM_001136190.2:c.42-1044_42-1043insGGGGGGGGGGGGGGG	NM_001136190.2:c.42-1044_42-1043insGGGGGGGGGGGGGGGG
LAX1 transcript variant 3	NM_001282878.1:c.-140+78=	NM_001282878.1:c.-140+87_-140+88del	NM_001282878.1:c.-140+88del	NM_001282878.1:c.-140+88dup	NM_001282878.1:c.-140+87_-140+88dup	NM_001282878.1:c.-140+86_-140+88dup	NM_001282878.1:c.-140+85_-140+88dup	NM_001282878.1:c.-140+84_-140+88dup	NM_001282878.1:c.-140+83_-140+88dup	NM_001282878.1:c.-140+82_-140+88dup	NM_001282878.1:c.-140+81_-140+88dup	NM_001282878.1:c.-140+80_-140+88dup	NM_001282878.1:c.-140+79_-140+88dup	NM_001282878.1:c.-140+78_-140+88dup	NM_001282878.1:c.-140+88_-140+89insGGGGGGGGGGGG	NM_001282878.1:c.-140+88_-140+89insGGGGGGGGGGGGG	NM_001282878.1:c.-140+88_-140+89insGGGGGGGGGGGGGG	NM_001282878.1:c.-140+88_-140+89insGGGGGGGGGGGGGGG	NM_001282878.1:c.-140+88_-140+89insGGGGGGGGGGGGGGGG
LAX1 transcript variant 1	NM_017773.3:c.90-1054=	NM_017773.3:c.90-1045_90-1044del	NM_017773.3:c.90-1044del	NM_017773.3:c.90-1044dup	NM_017773.3:c.90-1045_90-1044dup	NM_017773.3:c.90-1046_90-1044dup	NM_017773.3:c.90-1047_90-1044dup	NM_017773.3:c.90-1048_90-1044dup	NM_017773.3:c.90-1049_90-1044dup	NM_017773.3:c.90-1050_90-1044dup	NM_017773.3:c.90-1051_90-1044dup	NM_017773.3:c.90-1052_90-1044dup	NM_017773.3:c.90-1053_90-1044dup	NM_017773.3:c.90-1054_90-1044dup	NM_017773.3:c.90-1044_90-1043insGGGGGGGGGGGG	NM_017773.3:c.90-1044_90-1043insGGGGGGGGGGGGG	NM_017773.3:c.90-1044_90-1043insGGGGGGGGGGGGGG	NM_017773.3:c.90-1044_90-1043insGGGGGGGGGGGGGGG	NM_017773.3:c.90-1044_90-1043insGGGGGGGGGGGGGGGG
LAX1 transcript variant 1	NM_017773.4:c.90-1054=	NM_017773.4:c.90-1045_90-1044del	NM_017773.4:c.90-1044del	NM_017773.4:c.90-1044dup	NM_017773.4:c.90-1045_90-1044dup	NM_017773.4:c.90-1046_90-1044dup	NM_017773.4:c.90-1047_90-1044dup	NM_017773.4:c.90-1048_90-1044dup	NM_017773.4:c.90-1049_90-1044dup	NM_017773.4:c.90-1050_90-1044dup	NM_017773.4:c.90-1051_90-1044dup	NM_017773.4:c.90-1052_90-1044dup	NM_017773.4:c.90-1053_90-1044dup	NM_017773.4:c.90-1054_90-1044dup	NM_017773.4:c.90-1044_90-1043insGGGGGGGGGGGG	NM_017773.4:c.90-1044_90-1043insGGGGGGGGGGGGG	NM_017773.4:c.90-1044_90-1043insGGGGGGGGGGGGGG	NM_017773.4:c.90-1044_90-1043insGGGGGGGGGGGGGGG	NM_017773.4:c.90-1044_90-1043insGGGGGGGGGGGGGGGG
LAX1 transcript variant X1	XM_006711397.4:c.90-1054=	XM_006711397.4:c.90-1045_90-1044del	XM_006711397.4:c.90-1044del	XM_006711397.4:c.90-1044dup	XM_006711397.4:c.90-1045_90-1044dup	XM_006711397.4:c.90-1046_90-1044dup	XM_006711397.4:c.90-1047_90-1044dup	XM_006711397.4:c.90-1048_90-1044dup	XM_006711397.4:c.90-1049_90-1044dup	XM_006711397.4:c.90-1050_90-1044dup	XM_006711397.4:c.90-1051_90-1044dup	XM_006711397.4:c.90-1052_90-1044dup	XM_006711397.4:c.90-1053_90-1044dup	XM_006711397.4:c.90-1054_90-1044dup	XM_006711397.4:c.90-1044_90-1043insGGGGGGGGGGGG	XM_006711397.4:c.90-1044_90-1043insGGGGGGGGGGGGG	XM_006711397.4:c.90-1044_90-1043insGGGGGGGGGGGGGG	XM_006711397.4:c.90-1044_90-1043insGGGGGGGGGGGGGGG	XM_006711397.4:c.90-1044_90-1043insGGGGGGGGGGGGGGGG

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, 29 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SWEGEN	ss2988302100	Nov 08, 2017 (151)
2	EVA_DECODE	ss3688451741	Jul 12, 2019 (153)
3	EVA_DECODE	ss3688451742	Jul 12, 2019 (153)
4	EVA_DECODE	ss3688451743	Jul 12, 2019 (153)
5	EVA_DECODE	ss3688451744	Jul 12, 2019 (153)
6	ACPOP	ss3727783141	Jul 12, 2019 (153)
7	ACPOP	ss3727783142	Jul 12, 2019 (153)
8	PACBIO	ss3789279852	Jul 12, 2019 (153)
9	PACBIO	ss3789279853	Jul 12, 2019 (153)
10	PACBIO	ss3794152087	Jul 12, 2019 (153)
11	PACBIO	ss3794152088	Jul 12, 2019 (153)
12	EVA	ss3826598004	Apr 25, 2020 (154)
13	GNOMAD	ss4009697486	Apr 25, 2021 (155)
14	GNOMAD	ss4009697487	Apr 25, 2021 (155)
15	GNOMAD	ss4009697488	Apr 25, 2021 (155)
16	GNOMAD	ss4009697489	Apr 25, 2021 (155)
17	GNOMAD	ss4009697490	Apr 25, 2021 (155)
18	GNOMAD	ss4009697491	Apr 25, 2021 (155)
19	GNOMAD	ss4009697492	Apr 25, 2021 (155)
20	GNOMAD	ss4009697493	Apr 25, 2021 (155)
21	GNOMAD	ss4009697494	Apr 25, 2021 (155)
22	GNOMAD	ss4009697495	Apr 25, 2021 (155)
23	GNOMAD	ss4009697496	Apr 25, 2021 (155)
24	GNOMAD	ss4009697497	Apr 25, 2021 (155)
25	GNOMAD	ss4009697498	Apr 25, 2021 (155)
26	GNOMAD	ss4009697499	Apr 25, 2021 (155)
27	GNOMAD	ss4009697500	Apr 25, 2021 (155)
28	GNOMAD	ss4009697503	Apr 25, 2021 (155)
29	TOMMO_GENOMICS	ss5148026034	Apr 25, 2021 (155)
30	TOMMO_GENOMICS	ss5148026035	Apr 25, 2021 (155)
31	TOMMO_GENOMICS	ss5148026036	Apr 25, 2021 (155)
32	TOMMO_GENOMICS	ss5148026037	Apr 25, 2021 (155)
33	HUGCELL_USP	ss5445951646	Oct 12, 2022 (156)
34	HUGCELL_USP	ss5445951647	Oct 12, 2022 (156)
35	HUGCELL_USP	ss5445951648	Oct 12, 2022 (156)
36	TOMMO_GENOMICS	ss5675668065	Oct 12, 2022 (156)
37	TOMMO_GENOMICS	ss5675668066	Oct 12, 2022 (156)
38	TOMMO_GENOMICS	ss5675668067	Oct 12, 2022 (156)
39	TOMMO_GENOMICS	ss5675668068	Oct 12, 2022 (156)
40	TOMMO_GENOMICS	ss5675668069	Oct 12, 2022 (156)
41	gnomAD - Genomes Submission ignored due to conflicting rows: Row 36995050 (NC_000001.11:203769773::G 2302/22514) Row 36995051 (NC_000001.11:203769773::GG 2010/22398) Row 36995052 (NC_000001.11:203769773::GGGG 351/22644)...	-	Apr 25, 2021 (155)
42	gnomAD - Genomes Submission ignored due to conflicting rows: Row 36995050 (NC_000001.11:203769773::G 2302/22514) Row 36995051 (NC_000001.11:203769773::GG 2010/22398) Row 36995052 (NC_000001.11:203769773::GGGG 351/22644)...	-	Apr 25, 2021 (155)
43	gnomAD - Genomes Submission ignored due to conflicting rows: Row 36995050 (NC_000001.11:203769773::G 2302/22514) Row 36995051 (NC_000001.11:203769773::GG 2010/22398) Row 36995052 (NC_000001.11:203769773::GGGG 351/22644)...	-	Apr 25, 2021 (155)
44	gnomAD - Genomes Submission ignored due to conflicting rows: Row 36995050 (NC_000001.11:203769773::G 2302/22514) Row 36995051 (NC_000001.11:203769773::GG 2010/22398) Row 36995052 (NC_000001.11:203769773::GGGG 351/22644)...	-	Apr 25, 2021 (155)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 36995050 (NC_000001.11:203769773::G 2302/22514) Row 36995051 (NC_000001.11:203769773::GG 2010/22398) Row 36995052 (NC_000001.11:203769773::GGGG 351/22644)...	-	Apr 25, 2021 (155)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 36995050 (NC_000001.11:203769773::G 2302/22514) Row 36995051 (NC_000001.11:203769773::GG 2010/22398) Row 36995052 (NC_000001.11:203769773::GGGG 351/22644)...	-	Apr 25, 2021 (155)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 36995050 (NC_000001.11:203769773::G 2302/22514) Row 36995051 (NC_000001.11:203769773::GG 2010/22398) Row 36995052 (NC_000001.11:203769773::GGGG 351/22644)...	-	Apr 25, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 36995050 (NC_000001.11:203769773::G 2302/22514) Row 36995051 (NC_000001.11:203769773::GG 2010/22398) Row 36995052 (NC_000001.11:203769773::GGGG 351/22644)...	-	Apr 25, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 36995050 (NC_000001.11:203769773::G 2302/22514) Row 36995051 (NC_000001.11:203769773::GG 2010/22398) Row 36995052 (NC_000001.11:203769773::GGGG 351/22644)...	-	Apr 25, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 36995050 (NC_000001.11:203769773::G 2302/22514) Row 36995051 (NC_000001.11:203769773::GG 2010/22398) Row 36995052 (NC_000001.11:203769773::GGGG 351/22644)...	-	Apr 25, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 36995050 (NC_000001.11:203769773::G 2302/22514) Row 36995051 (NC_000001.11:203769773::GG 2010/22398) Row 36995052 (NC_000001.11:203769773::GGGG 351/22644)...	-	Apr 25, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 36995050 (NC_000001.11:203769773::G 2302/22514) Row 36995051 (NC_000001.11:203769773::GG 2010/22398) Row 36995052 (NC_000001.11:203769773::GGGG 351/22644)...	-	Apr 25, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 36995050 (NC_000001.11:203769773::G 2302/22514) Row 36995051 (NC_000001.11:203769773::GG 2010/22398) Row 36995052 (NC_000001.11:203769773::GGGG 351/22644)...	-	Apr 25, 2021 (155)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 36995050 (NC_000001.11:203769773::G 2302/22514) Row 36995051 (NC_000001.11:203769773::GG 2010/22398) Row 36995052 (NC_000001.11:203769773::GGGG 351/22644)...	-	Apr 25, 2021 (155)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 36995050 (NC_000001.11:203769773::G 2302/22514) Row 36995051 (NC_000001.11:203769773::GG 2010/22398) Row 36995052 (NC_000001.11:203769773::GGGG 351/22644)...	-	Apr 25, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 36995050 (NC_000001.11:203769773::G 2302/22514) Row 36995051 (NC_000001.11:203769773::GG 2010/22398) Row 36995052 (NC_000001.11:203769773::GGGG 351/22644)...	-	Apr 25, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 36995050 (NC_000001.11:203769773::G 2302/22514) Row 36995051 (NC_000001.11:203769773::GG 2010/22398) Row 36995052 (NC_000001.11:203769773::GGGG 351/22644)...	-	Apr 25, 2021 (155)
58	Northern Sweden Submission ignored due to conflicting rows: Row 1068006 (NC_000001.10:203738901::GGGG 3/438) Row 1068007 (NC_000001.10:203738901::GG 5/438)	-	Jul 12, 2019 (153)
59	Northern Sweden Submission ignored due to conflicting rows: Row 1068006 (NC_000001.10:203738901::GGGG 3/438) Row 1068007 (NC_000001.10:203738901::GG 5/438)	-	Jul 12, 2019 (153)
60	8.3KJPN Submission ignored due to conflicting rows: Row 5995341 (NC_000001.10:203738901:G: 379/14720) Row 5995342 (NC_000001.10:203738901::G 506/14720) Row 5995343 (NC_000001.10:203738901::GG 10/14720)...	-	Apr 25, 2021 (155)
61	8.3KJPN Submission ignored due to conflicting rows: Row 5995341 (NC_000001.10:203738901:G: 379/14720) Row 5995342 (NC_000001.10:203738901::G 506/14720) Row 5995343 (NC_000001.10:203738901::GG 10/14720)...	-	Apr 25, 2021 (155)
62	8.3KJPN Submission ignored due to conflicting rows: Row 5995341 (NC_000001.10:203738901:G: 379/14720) Row 5995342 (NC_000001.10:203738901::G 506/14720) Row 5995343 (NC_000001.10:203738901::GG 10/14720)...	-	Apr 25, 2021 (155)
63	8.3KJPN Submission ignored due to conflicting rows: Row 5995341 (NC_000001.10:203738901:G: 379/14720) Row 5995342 (NC_000001.10:203738901::G 506/14720) Row 5995343 (NC_000001.10:203738901::GG 10/14720)...	-	Apr 25, 2021 (155)
64	14KJPN Submission ignored due to conflicting rows: Row 9505169 (NC_000001.11:203769773:G: 710/26824) Row 9505170 (NC_000001.11:203769773::G 987/26824) Row 9505171 (NC_000001.11:203769773::GGGGGGGGGG 2/26824)...	-	Oct 12, 2022 (156)
65	14KJPN Submission ignored due to conflicting rows: Row 9505169 (NC_000001.11:203769773:G: 710/26824) Row 9505170 (NC_000001.11:203769773::G 987/26824) Row 9505171 (NC_000001.11:203769773::GGGGGGGGGG 2/26824)...	-	Oct 12, 2022 (156)
66	14KJPN Submission ignored due to conflicting rows: Row 9505169 (NC_000001.11:203769773:G: 710/26824) Row 9505170 (NC_000001.11:203769773::G 987/26824) Row 9505171 (NC_000001.11:203769773::GGGGGGGGGG 2/26824)...	-	Oct 12, 2022 (156)
67	14KJPN Submission ignored due to conflicting rows: Row 9505169 (NC_000001.11:203769773:G: 710/26824) Row 9505170 (NC_000001.11:203769773::G 987/26824) Row 9505171 (NC_000001.11:203769773::GGGGGGGGGG 2/26824)...	-	Oct 12, 2022 (156)
68	14KJPN Submission ignored due to conflicting rows: Row 9505169 (NC_000001.11:203769773:G: 710/26824) Row 9505170 (NC_000001.11:203769773::G 987/26824) Row 9505171 (NC_000001.11:203769773::GGGGGGGGGG 2/26824)...	-	Oct 12, 2022 (156)
69	ALFA	NC_000001.11 - 203769774	Apr 25, 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
ss4009697503	NC_000001.11:203769773:GG:	NC_000001.11:203769773:GGGGGGGGGGG… NC_000001.11:203769773:GGGGGGGGGGG:GGGGGGGGG	(self)
10311535955	NC_000001.11:203769773:GGGGGGGGGGG… NC_000001.11:203769773:GGGGGGGGGGG:GGGGGGGGG	NC_000001.11:203769773:GGGGGGGGGGG… NC_000001.11:203769773:GGGGGGGGGGG:GGGGGGGGG	(self)
ss2988302100, ss3826598004, ss5148026034	NC_000001.10:203738901:G:	NC_000001.11:203769773:GGGGGGGGGGG… NC_000001.11:203769773:GGGGGGGGGGG:GGGGGGGGGG	(self)
ss3688451744, ss5445951646, ss5675668065	NC_000001.11:203769773:G:	NC_000001.11:203769773:GGGGGGGGGGG… NC_000001.11:203769773:GGGGGGGGGGG:GGGGGGGGGG	(self)
10311535955	NC_000001.11:203769773:GGGGGGGGGGG… NC_000001.11:203769773:GGGGGGGGGGG:GGGGGGGGGG	NC_000001.11:203769773:GGGGGGGGGGG… NC_000001.11:203769773:GGGGGGGGGGG:GGGGGGGGGG	(self)
ss5148026035	NC_000001.10:203738901::G	NC_000001.11:203769773:GGGGGGGGGGG… NC_000001.11:203769773:GGGGGGGGGGG:GGGGGGGGGGGG	(self)
ss4009697486, ss5445951648, ss5675668066	NC_000001.11:203769773::G	NC_000001.11:203769773:GGGGGGGGGGG… NC_000001.11:203769773:GGGGGGGGGGG:GGGGGGGGGGGG	(self)
10311535955	NC_000001.11:203769773:GGGGGGGGGGG… NC_000001.11:203769773:GGGGGGGGGGG:GGGGGGGGGGGG	NC_000001.11:203769773:GGGGGGGGGGG… NC_000001.11:203769773:GGGGGGGGGGG:GGGGGGGGGGGG	(self)
ss3688451743	NC_000001.11:203769774::G	NC_000001.11:203769773:GGGGGGGGGGG… NC_000001.11:203769773:GGGGGGGGGGG:GGGGGGGGGGGG	(self)
ss3727783142, ss3789279852, ss3794152087, ss5148026036	NC_000001.10:203738901::GG	NC_000001.11:203769773:GGGGGGGGGGG… NC_000001.11:203769773:GGGGGGGGGGG:GGGGGGGGGGGGG	(self)
ss4009697487, ss5445951647, ss5675668069	NC_000001.11:203769773::GG	NC_000001.11:203769773:GGGGGGGGGGG… NC_000001.11:203769773:GGGGGGGGGGG:GGGGGGGGGGGGG	(self)
10311535955	NC_000001.11:203769773:GGGGGGGGGGG… NC_000001.11:203769773:GGGGGGGGGGG:GGGGGGGGGGGGG	NC_000001.11:203769773:GGGGGGGGGGG… NC_000001.11:203769773:GGGGGGGGGGG:GGGGGGGGGGGGG	(self)
ss3688451742	NC_000001.11:203769774::GG	NC_000001.11:203769773:GGGGGGGGGGG… NC_000001.11:203769773:GGGGGGGGGGG:GGGGGGGGGGGGG	(self)
ss3789279853, ss3794152088	NC_000001.10:203738901::GGG	NC_000001.11:203769773:GGGGGGGGGGG… NC_000001.11:203769773:GGGGGGGGGGG:GGGGGGGGGGGGGG	(self)
ss5675668068	NC_000001.11:203769773::GGG	NC_000001.11:203769773:GGGGGGGGGGG… NC_000001.11:203769773:GGGGGGGGGGG:GGGGGGGGGGGGGG	(self)
10311535955	NC_000001.11:203769773:GGGGGGGGGGG… NC_000001.11:203769773:GGGGGGGGGGG:GGGGGGGGGGGGGG	NC_000001.11:203769773:GGGGGGGGGGG… NC_000001.11:203769773:GGGGGGGGGGG:GGGGGGGGGGGGGG	(self)
ss3688451741	NC_000001.11:203769774::GGG	NC_000001.11:203769773:GGGGGGGGGGG… NC_000001.11:203769773:GGGGGGGGGGG:GGGGGGGGGGGGGG	(self)
ss3727783141	NC_000001.10:203738901::GGGG	NC_000001.11:203769773:GGGGGGGGGGG… NC_000001.11:203769773:GGGGGGGGGGG:GGGGGGGGGGGGGGG	(self)
ss4009697488	NC_000001.11:203769773::GGGG	NC_000001.11:203769773:GGGGGGGGGGG… NC_000001.11:203769773:GGGGGGGGGGG:GGGGGGGGGGGGGGG	(self)
10311535955	NC_000001.11:203769773:GGGGGGGGGGG… NC_000001.11:203769773:GGGGGGGGGGG:GGGGGGGGGGGGGGG	NC_000001.11:203769773:GGGGGGGGGGG… NC_000001.11:203769773:GGGGGGGGGGG:GGGGGGGGGGGGGGG	(self)
ss4009697489	NC_000001.11:203769773::GGGGG	NC_000001.11:203769773:GGGGGGGGGGG… NC_000001.11:203769773:GGGGGGGGGGG:GGGGGGGGGGGGGGGG	(self)
ss4009697490	NC_000001.11:203769773::GGGGGG	NC_000001.11:203769773:GGGGGGGGGGG… NC_000001.11:203769773:GGGGGGGGGGG:GGGGGGGGGGGGGGGGG	(self)
ss4009697491	NC_000001.11:203769773::GGGGGGG	NC_000001.11:203769773:GGGGGGGGGGG… NC_000001.11:203769773:GGGGGGGGGGG:GGGGGGGGGGGGGGGGGG	(self)
ss4009697492	NC_000001.11:203769773::GGGGGGGG	NC_000001.11:203769773:GGGGGGGGGGG… NC_000001.11:203769773:GGGGGGGGGGG:GGGGGGGGGGGGGGGGGGG	(self)
ss5148026037	NC_000001.10:203738901::GGGGGGGGG	NC_000001.11:203769773:GGGGGGGGGGG… NC_000001.11:203769773:GGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGG	(self)
ss4009697493	NC_000001.11:203769773::GGGGGGGGG	NC_000001.11:203769773:GGGGGGGGGGG… NC_000001.11:203769773:GGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGG	(self)
ss4009697494, ss5675668067	NC_000001.11:203769773::GGGGGGGGGG	NC_000001.11:203769773:GGGGGGGGGGG… NC_000001.11:203769773:GGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGG	(self)
ss4009697495	NC_000001.11:203769773::GGGGGGGGGGG	NC_000001.11:203769773:GGGGGGGGGGG… NC_000001.11:203769773:GGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGG	(self)
ss4009697496	NC_000001.11:203769773::GGGGGGGGGG… NC_000001.11:203769773::GGGGGGGGGGGG	NC_000001.11:203769773:GGGGGGGGGGG… NC_000001.11:203769773:GGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGG	(self)
ss4009697497	NC_000001.11:203769773::GGGGGGGGGG… NC_000001.11:203769773::GGGGGGGGGGGGG	NC_000001.11:203769773:GGGGGGGGGGG… NC_000001.11:203769773:GGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGG	(self)
ss4009697498	NC_000001.11:203769773::GGGGGGGGGG… NC_000001.11:203769773::GGGGGGGGGGGGGG	NC_000001.11:203769773:GGGGGGGGGGG… NC_000001.11:203769773:GGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGG	(self)
ss4009697499	NC_000001.11:203769773::GGGGGGGGGG… NC_000001.11:203769773::GGGGGGGGGGGGGGG	NC_000001.11:203769773:GGGGGGGGGGG… NC_000001.11:203769773:GGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGG	(self)
ss4009697500	NC_000001.11:203769773::GGGGGGGGGG… NC_000001.11:203769773::GGGGGGGGGGGGGGGG	NC_000001.11:203769773:GGGGGGGGGGG… NC_000001.11:203769773:GGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGG	(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 rs1311215813

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.
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

rs1311215813