Name: rs34418008
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.

rs34418008

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr11:46685677-46685696 (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)₁₁ / del(T)₁₀ / del(T)₉ / de…
del(T)₁₁ / del(T)₁₀ / del(T)₉ / del(T)₈ / del(T)₇ / del(T)₄ / delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)₄ / dup(T)₅
Variation Type: Indel Insertion and Deletion
Frequency: delT=0.02974 (346/11634, ALFA)
delT=0.1460 (731/5008, 1000G)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: ARHGAP1 : 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	11634	TTTTTTTTTTTTTTTTTTTT=0.96974	TTTTTTTTT=0.00000, TTTTTTTTTT=0.00000, TTTTTTTTTTT=0.00000, TTTTTTTTTTTT=0.00000, TTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTT=0.02974, TTTTTTTTTTTTTTTTTTTTT=0.00052, TTTTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00000	0.943727	0.003098	0.053175	19
European	Sub	9934	TTTTTTTTTTTTTTTTTTTT=0.9647	TTTTTTTTT=0.0000, TTTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0347, TTTTTTTTTTTTTTTTTTTTT=0.0006, TTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0000	0.934287	0.003628	0.062084	14
African	Sub	684	TTTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
African Others	Sub	22	TTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
African American	Sub	662	TTTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
Asian	Sub	88	TTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	66	TTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	22	TTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	86	TTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	504	TTTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	78	TTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other	Sub	260	TTTTTTTTTTTTTTTTTTTT=0.996	TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.004, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000	0.992308	0.0	0.007692	0

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	11634	(T)₂₀=0.96974	del(T)₁₁=0.00000, del(T)₁₀=0.00000, del(T)₉=0.00000, del(T)₈=0.00000, del(T)₇=0.00000, del(T)₄=0.00000, delTT=0.00000, delT=0.02974, dupT=0.00052, dupTT=0.00000, dupTTT=0.00000, dup(T)₅=0.00000
Allele Frequency Aggregator	European	Sub	9934	(T)₂₀=0.9647	del(T)₁₁=0.0000, del(T)₁₀=0.0000, del(T)₉=0.0000, del(T)₈=0.0000, del(T)₇=0.0000, del(T)₄=0.0000, delTT=0.0000, delT=0.0347, dupT=0.0006, dupTT=0.0000, dupTTT=0.0000, dup(T)₅=0.0000
Allele Frequency Aggregator	African	Sub	684	(T)₂₀=1.000	del(T)₁₁=0.000, del(T)₁₀=0.000, del(T)₉=0.000, del(T)₈=0.000, del(T)₇=0.000, del(T)₄=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₅=0.000
Allele Frequency Aggregator	Latin American 2	Sub	504	(T)₂₀=1.000	del(T)₁₁=0.000, del(T)₁₀=0.000, del(T)₉=0.000, del(T)₈=0.000, del(T)₇=0.000, del(T)₄=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₅=0.000
Allele Frequency Aggregator	Other	Sub	260	(T)₂₀=0.996	del(T)₁₁=0.000, del(T)₁₀=0.000, del(T)₉=0.000, del(T)₈=0.000, del(T)₇=0.000, del(T)₄=0.000, delTT=0.000, delT=0.004, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₅=0.000
Allele Frequency Aggregator	Asian	Sub	88	(T)₂₀=1.00	del(T)₁₁=0.00, del(T)₁₀=0.00, del(T)₉=0.00, del(T)₈=0.00, del(T)₇=0.00, del(T)₄=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₅=0.00
Allele Frequency Aggregator	Latin American 1	Sub	86	(T)₂₀=1.00	del(T)₁₁=0.00, del(T)₁₀=0.00, del(T)₉=0.00, del(T)₈=0.00, del(T)₇=0.00, del(T)₄=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₅=0.00
Allele Frequency Aggregator	South Asian	Sub	78	(T)₂₀=1.00	del(T)₁₁=0.00, del(T)₁₀=0.00, del(T)₉=0.00, del(T)₈=0.00, del(T)₇=0.00, del(T)₄=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₅=0.00
1000Genomes	Global	Study-wide	5008	(T)₂₀=0.8540	delT=0.1460
1000Genomes	African	Sub	1322	(T)₂₀=0.7526	delT=0.2474
1000Genomes	East Asian	Sub	1008	(T)₂₀=0.9315	delT=0.0685
1000Genomes	Europe	Sub	1006	(T)₂₀=0.8390	delT=0.1610
1000Genomes	South Asian	Sub	978	(T)₂₀=0.897	delT=0.103
1000Genomes	American	Sub	694	(T)₂₀=0.896	delT=0.104

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 11	NC_000011.10:g.46685686_46685696del
GRCh38.p14 chr 11	NC_000011.10:g.46685687_46685696del
GRCh38.p14 chr 11	NC_000011.10:g.46685688_46685696del
GRCh38.p14 chr 11	NC_000011.10:g.46685689_46685696del
GRCh38.p14 chr 11	NC_000011.10:g.46685690_46685696del
GRCh38.p14 chr 11	NC_000011.10:g.46685693_46685696del
GRCh38.p14 chr 11	NC_000011.10:g.46685694_46685696del
GRCh38.p14 chr 11	NC_000011.10:g.46685695_46685696del
GRCh38.p14 chr 11	NC_000011.10:g.46685696del
GRCh38.p14 chr 11	NC_000011.10:g.46685696dup
GRCh38.p14 chr 11	NC_000011.10:g.46685695_46685696dup
GRCh38.p14 chr 11	NC_000011.10:g.46685694_46685696dup
GRCh38.p14 chr 11	NC_000011.10:g.46685693_46685696dup
GRCh38.p14 chr 11	NC_000011.10:g.46685692_46685696dup
GRCh37.p13 chr 11	NC_000011.9:g.46707236_46707246del
GRCh37.p13 chr 11	NC_000011.9:g.46707237_46707246del
GRCh37.p13 chr 11	NC_000011.9:g.46707238_46707246del
GRCh37.p13 chr 11	NC_000011.9:g.46707239_46707246del
GRCh37.p13 chr 11	NC_000011.9:g.46707240_46707246del
GRCh37.p13 chr 11	NC_000011.9:g.46707243_46707246del
GRCh37.p13 chr 11	NC_000011.9:g.46707244_46707246del
GRCh37.p13 chr 11	NC_000011.9:g.46707245_46707246del
GRCh37.p13 chr 11	NC_000011.9:g.46707246del
GRCh37.p13 chr 11	NC_000011.9:g.46707246dup
GRCh37.p13 chr 11	NC_000011.9:g.46707245_46707246dup
GRCh37.p13 chr 11	NC_000011.9:g.46707244_46707246dup
GRCh37.p13 chr 11	NC_000011.9:g.46707243_46707246dup
GRCh37.p13 chr 11	NC_000011.9:g.46707242_46707246dup

Gene: ARHGAP1, Rho GTPase activating protein 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ARHGAP1 transcript	NM_004308.5:c.317+2486_31… NM_004308.5:c.317+2486_317+2496del	N/A	Intron Variant
ARHGAP1 transcript variant X1	XM_024448520.2:c.317+2486… XM_024448520.2:c.317+2486_317+2496del	N/A	Intron Variant
ARHGAP1 transcript variant X2	XM_047426933.1:c.317+2486… XM_047426933.1:c.317+2486_317+2496del	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	(T)₂₀=	del(T)₁₁	del(T)₁₀	del(T)₉	del(T)₈	del(T)₇	del(T)₄	delTTT	delTT	delT	dupT	dupTT	dupTTT	dup(T)₄	dup(T)₅
GRCh38.p14 chr 11	NC_000011.10:g.46685677_46685696=	NC_000011.10:g.46685686_46685696del	NC_000011.10:g.46685687_46685696del	NC_000011.10:g.46685688_46685696del	NC_000011.10:g.46685689_46685696del	NC_000011.10:g.46685690_46685696del	NC_000011.10:g.46685693_46685696del	NC_000011.10:g.46685694_46685696del	NC_000011.10:g.46685695_46685696del	NC_000011.10:g.46685696del	NC_000011.10:g.46685696dup	NC_000011.10:g.46685695_46685696dup	NC_000011.10:g.46685694_46685696dup	NC_000011.10:g.46685693_46685696dup	NC_000011.10:g.46685692_46685696dup
GRCh37.p13 chr 11	NC_000011.9:g.46707227_46707246=	NC_000011.9:g.46707236_46707246del	NC_000011.9:g.46707237_46707246del	NC_000011.9:g.46707238_46707246del	NC_000011.9:g.46707239_46707246del	NC_000011.9:g.46707240_46707246del	NC_000011.9:g.46707243_46707246del	NC_000011.9:g.46707244_46707246del	NC_000011.9:g.46707245_46707246del	NC_000011.9:g.46707246del	NC_000011.9:g.46707246dup	NC_000011.9:g.46707245_46707246dup	NC_000011.9:g.46707244_46707246dup	NC_000011.9:g.46707243_46707246dup	NC_000011.9:g.46707242_46707246dup
ARHGAP1 transcript	NM_004308.3:c.317+2496=	NM_004308.3:c.317+2486_317+2496del	NM_004308.3:c.317+2487_317+2496del	NM_004308.3:c.317+2488_317+2496del	NM_004308.3:c.317+2489_317+2496del	NM_004308.3:c.317+2490_317+2496del	NM_004308.3:c.317+2493_317+2496del	NM_004308.3:c.317+2494_317+2496del	NM_004308.3:c.317+2495_317+2496del	NM_004308.3:c.317+2496del	NM_004308.3:c.317+2496dup	NM_004308.3:c.317+2495_317+2496dup	NM_004308.3:c.317+2494_317+2496dup	NM_004308.3:c.317+2493_317+2496dup	NM_004308.3:c.317+2492_317+2496dup
ARHGAP1 transcript	NM_004308.5:c.317+2496=	NM_004308.5:c.317+2486_317+2496del	NM_004308.5:c.317+2487_317+2496del	NM_004308.5:c.317+2488_317+2496del	NM_004308.5:c.317+2489_317+2496del	NM_004308.5:c.317+2490_317+2496del	NM_004308.5:c.317+2493_317+2496del	NM_004308.5:c.317+2494_317+2496del	NM_004308.5:c.317+2495_317+2496del	NM_004308.5:c.317+2496del	NM_004308.5:c.317+2496dup	NM_004308.5:c.317+2495_317+2496dup	NM_004308.5:c.317+2494_317+2496dup	NM_004308.5:c.317+2493_317+2496dup	NM_004308.5:c.317+2492_317+2496dup
ARHGAP1 transcript variant X1	XM_005252917.1:c.317+2496=	XM_005252917.1:c.317+2486_317+2496del	XM_005252917.1:c.317+2487_317+2496del	XM_005252917.1:c.317+2488_317+2496del	XM_005252917.1:c.317+2489_317+2496del	XM_005252917.1:c.317+2490_317+2496del	XM_005252917.1:c.317+2493_317+2496del	XM_005252917.1:c.317+2494_317+2496del	XM_005252917.1:c.317+2495_317+2496del	XM_005252917.1:c.317+2496del	XM_005252917.1:c.317+2496dup	XM_005252917.1:c.317+2495_317+2496dup	XM_005252917.1:c.317+2494_317+2496dup	XM_005252917.1:c.317+2493_317+2496dup	XM_005252917.1:c.317+2492_317+2496dup
ARHGAP1 transcript variant X1	XM_024448520.2:c.317+2496=	XM_024448520.2:c.317+2486_317+2496del	XM_024448520.2:c.317+2487_317+2496del	XM_024448520.2:c.317+2488_317+2496del	XM_024448520.2:c.317+2489_317+2496del	XM_024448520.2:c.317+2490_317+2496del	XM_024448520.2:c.317+2493_317+2496del	XM_024448520.2:c.317+2494_317+2496del	XM_024448520.2:c.317+2495_317+2496del	XM_024448520.2:c.317+2496del	XM_024448520.2:c.317+2496dup	XM_024448520.2:c.317+2495_317+2496dup	XM_024448520.2:c.317+2494_317+2496dup	XM_024448520.2:c.317+2493_317+2496dup	XM_024448520.2:c.317+2492_317+2496dup
ARHGAP1 transcript variant X2	XM_047426933.1:c.317+2496=	XM_047426933.1:c.317+2486_317+2496del	XM_047426933.1:c.317+2487_317+2496del	XM_047426933.1:c.317+2488_317+2496del	XM_047426933.1:c.317+2489_317+2496del	XM_047426933.1:c.317+2490_317+2496del	XM_047426933.1:c.317+2493_317+2496del	XM_047426933.1:c.317+2494_317+2496del	XM_047426933.1:c.317+2495_317+2496del	XM_047426933.1:c.317+2496del	XM_047426933.1:c.317+2496dup	XM_047426933.1:c.317+2495_317+2496dup	XM_047426933.1:c.317+2494_317+2496dup	XM_047426933.1:c.317+2493_317+2496dup	XM_047426933.1:c.317+2492_317+2496dup

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#.

30 SubSNP, 19 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss39927634	Mar 13, 2006 (126)
2	1000GENOMES	ss1370882229	Aug 21, 2014 (142)
3	SWEGEN	ss3008019581	Nov 08, 2017 (151)
4	MCHAISSO	ss3065428538	Nov 08, 2017 (151)
5	KHV_HUMAN_GENOMES	ss3814609940	Jul 13, 2019 (153)
6	EVA	ss3832615252	Apr 26, 2020 (154)
7	GNOMAD	ss4234520538	Apr 27, 2021 (155)
8	GNOMAD	ss4234520539	Apr 27, 2021 (155)
9	GNOMAD	ss4234520540	Apr 27, 2021 (155)
10	GNOMAD	ss4234520541	Apr 27, 2021 (155)
11	GNOMAD	ss4234520542	Apr 27, 2021 (155)
12	GNOMAD	ss4234520543	Apr 27, 2021 (155)
13	GNOMAD	ss4234520544	Apr 27, 2021 (155)
14	GNOMAD	ss4234520545	Apr 27, 2021 (155)
15	GNOMAD	ss4234520546	Apr 27, 2021 (155)
16	GNOMAD	ss4234520547	Apr 27, 2021 (155)
17	GNOMAD	ss4234520548	Apr 27, 2021 (155)
18	GNOMAD	ss4234520549	Apr 27, 2021 (155)
19	TOMMO_GENOMICS	ss5201830698	Apr 27, 2021 (155)
20	TOMMO_GENOMICS	ss5201830699	Apr 27, 2021 (155)
21	1000G_HIGH_COVERAGE	ss5287299923	Oct 16, 2022 (156)
22	1000G_HIGH_COVERAGE	ss5287299924	Oct 16, 2022 (156)
23	1000G_HIGH_COVERAGE	ss5287299925	Oct 16, 2022 (156)
24	1000G_HIGH_COVERAGE	ss5287299926	Oct 16, 2022 (156)
25	HUGCELL_USP	ss5482514496	Oct 16, 2022 (156)
26	HUGCELL_USP	ss5482514497	Oct 16, 2022 (156)
27	HUGCELL_USP	ss5482514498	Oct 16, 2022 (156)
28	TOMMO_GENOMICS	ss5748909895	Oct 16, 2022 (156)
29	TOMMO_GENOMICS	ss5748909896	Oct 16, 2022 (156)
30	TOMMO_GENOMICS	ss5748909898	Oct 16, 2022 (156)
31	1000Genomes	NC_000011.9 - 46707227	Oct 12, 2018 (152)
32	gnomAD - Genomes Submission ignored due to conflicting rows: Row 378788565 (NC_000011.10:46685676::T 4912/103128) Row 378788566 (NC_000011.10:46685676::TT 54/103120) Row 378788567 (NC_000011.10:46685676::TTT 9/103144)...	-	Apr 27, 2021 (155)
33	gnomAD - Genomes Submission ignored due to conflicting rows: Row 378788565 (NC_000011.10:46685676::T 4912/103128) Row 378788566 (NC_000011.10:46685676::TT 54/103120) Row 378788567 (NC_000011.10:46685676::TTT 9/103144)...	-	Apr 27, 2021 (155)
34	gnomAD - Genomes Submission ignored due to conflicting rows: Row 378788565 (NC_000011.10:46685676::T 4912/103128) Row 378788566 (NC_000011.10:46685676::TT 54/103120) Row 378788567 (NC_000011.10:46685676::TTT 9/103144)...	-	Apr 27, 2021 (155)
35	gnomAD - Genomes Submission ignored due to conflicting rows: Row 378788565 (NC_000011.10:46685676::T 4912/103128) Row 378788566 (NC_000011.10:46685676::TT 54/103120) Row 378788567 (NC_000011.10:46685676::TTT 9/103144)...	-	Apr 27, 2021 (155)
36	gnomAD - Genomes Submission ignored due to conflicting rows: Row 378788565 (NC_000011.10:46685676::T 4912/103128) Row 378788566 (NC_000011.10:46685676::TT 54/103120) Row 378788567 (NC_000011.10:46685676::TTT 9/103144)...	-	Apr 27, 2021 (155)
37	gnomAD - Genomes Submission ignored due to conflicting rows: Row 378788565 (NC_000011.10:46685676::T 4912/103128) Row 378788566 (NC_000011.10:46685676::TT 54/103120) Row 378788567 (NC_000011.10:46685676::TTT 9/103144)...	-	Apr 27, 2021 (155)
38	gnomAD - Genomes Submission ignored due to conflicting rows: Row 378788565 (NC_000011.10:46685676::T 4912/103128) Row 378788566 (NC_000011.10:46685676::TT 54/103120) Row 378788567 (NC_000011.10:46685676::TTT 9/103144)...	-	Apr 27, 2021 (155)
39	gnomAD - Genomes Submission ignored due to conflicting rows: Row 378788565 (NC_000011.10:46685676::T 4912/103128) Row 378788566 (NC_000011.10:46685676::TT 54/103120) Row 378788567 (NC_000011.10:46685676::TTT 9/103144)...	-	Apr 27, 2021 (155)
40	gnomAD - Genomes Submission ignored due to conflicting rows: Row 378788565 (NC_000011.10:46685676::T 4912/103128) Row 378788566 (NC_000011.10:46685676::TT 54/103120) Row 378788567 (NC_000011.10:46685676::TTT 9/103144)...	-	Apr 27, 2021 (155)
41	gnomAD - Genomes Submission ignored due to conflicting rows: Row 378788565 (NC_000011.10:46685676::T 4912/103128) Row 378788566 (NC_000011.10:46685676::TT 54/103120) Row 378788567 (NC_000011.10:46685676::TTT 9/103144)...	-	Apr 27, 2021 (155)
42	gnomAD - Genomes Submission ignored due to conflicting rows: Row 378788565 (NC_000011.10:46685676::T 4912/103128) Row 378788566 (NC_000011.10:46685676::TT 54/103120) Row 378788567 (NC_000011.10:46685676::TTT 9/103144)...	-	Apr 27, 2021 (155)
43	gnomAD - Genomes Submission ignored due to conflicting rows: Row 378788565 (NC_000011.10:46685676::T 4912/103128) Row 378788566 (NC_000011.10:46685676::TT 54/103120) Row 378788567 (NC_000011.10:46685676::TTT 9/103144)...	-	Apr 27, 2021 (155)
44	8.3KJPN Submission ignored due to conflicting rows: Row 59800005 (NC_000011.9:46707226:T: 632/16718) Row 59800006 (NC_000011.9:46707226::T 27/16718)	-	Apr 27, 2021 (155)
45	8.3KJPN Submission ignored due to conflicting rows: Row 59800005 (NC_000011.9:46707226:T: 632/16718) Row 59800006 (NC_000011.9:46707226::T 27/16718)	-	Apr 27, 2021 (155)
46	14KJPN Submission ignored due to conflicting rows: Row 82746999 (NC_000011.10:46685676:T: 1211/28108) Row 82747000 (NC_000011.10:46685676::T 33/28108) Row 82747002 (NC_000011.10:46685676:TTTTTTTTTT: 1/28108)	-	Oct 16, 2022 (156)
47	14KJPN Submission ignored due to conflicting rows: Row 82746999 (NC_000011.10:46685676:T: 1211/28108) Row 82747000 (NC_000011.10:46685676::T 33/28108) Row 82747002 (NC_000011.10:46685676:TTTTTTTTTT: 1/28108)	-	Oct 16, 2022 (156)
48	14KJPN Submission ignored due to conflicting rows: Row 82746999 (NC_000011.10:46685676:T: 1211/28108) Row 82747000 (NC_000011.10:46685676::T 33/28108) Row 82747002 (NC_000011.10:46685676:TTTTTTTTTT: 1/28108)	-	Oct 16, 2022 (156)
49	ALFA	NC_000011.10 - 46685677	Apr 27, 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
ss4234520549	NC_000011.10:46685676:TTTTTTTTTTT:	NC_000011.10:46685676:TTTTTTTTTTTT… NC_000011.10:46685676:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT	(self)
3690413809	NC_000011.10:46685676:TTTTTTTTTTTT… NC_000011.10:46685676:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT	NC_000011.10:46685676:TTTTTTTTTTTT… NC_000011.10:46685676:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT	(self)
ss5748909898	NC_000011.10:46685676:TTTTTTTTTT:	NC_000011.10:46685676:TTTTTTTTTTTT… NC_000011.10:46685676:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT
3690413809	NC_000011.10:46685676:TTTTTTTTTTTT… NC_000011.10:46685676:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT	NC_000011.10:46685676:TTTTTTTTTTTT… NC_000011.10:46685676:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT	(self)
ss4234520548	NC_000011.10:46685676:TTTTTTTTT:	NC_000011.10:46685676:TTTTTTTTTTTT… NC_000011.10:46685676:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
3690413809	NC_000011.10:46685676:TTTTTTTTTTTT… NC_000011.10:46685676:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	NC_000011.10:46685676:TTTTTTTTTTTT… NC_000011.10:46685676:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
3690413809	NC_000011.10:46685676:TTTTTTTTTTTT… NC_000011.10:46685676:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	NC_000011.10:46685676:TTTTTTTTTTTT… NC_000011.10:46685676:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss4234520547	NC_000011.10:46685676:TTTTTTT:	NC_000011.10:46685676:TTTTTTTTTTTT… NC_000011.10:46685676:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
3690413809	NC_000011.10:46685676:TTTTTTTTTTTT… NC_000011.10:46685676:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	NC_000011.10:46685676:TTTTTTTTTTTT… NC_000011.10:46685676:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss4234520546, ss5287299926	NC_000011.10:46685676:TTTT:	NC_000011.10:46685676:TTTTTTTTTTTT… NC_000011.10:46685676:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
3690413809	NC_000011.10:46685676:TTTTTTTTTTTT… NC_000011.10:46685676:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000011.10:46685676:TTTTTTTTTTTT… NC_000011.10:46685676:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss4234520545	NC_000011.10:46685676:TTT:	NC_000011.10:46685676:TTTTTTTTTTTT… NC_000011.10:46685676:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss4234520544, ss5287299925, ss5482514498	NC_000011.10:46685676:TT:	NC_000011.10:46685676:TTTTTTTTTTTT… NC_000011.10:46685676:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
3690413809	NC_000011.10:46685676:TTTTTTTTTTTT… NC_000011.10:46685676:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000011.10:46685676:TTTTTTTTTTTT… NC_000011.10:46685676:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
53671165, ss1370882229, ss3008019581, ss3832615252, ss5201830698	NC_000011.9:46707226:T:	NC_000011.10:46685676:TTTTTTTTTTTT… NC_000011.10:46685676:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss3065428538, ss3814609940, ss4234520543, ss5287299923, ss5482514496, ss5748909895	NC_000011.10:46685676:T:	NC_000011.10:46685676:TTTTTTTTTTTT… NC_000011.10:46685676:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
3690413809	NC_000011.10:46685676:TTTTTTTTTTTT… NC_000011.10:46685676:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	NC_000011.10:46685676:TTTTTTTTTTTT… NC_000011.10:46685676:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss39927634	NT_009237.18:46647245:T:	NC_000011.10:46685676:TTTTTTTTTTTT… NC_000011.10:46685676:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss5201830699	NC_000011.9:46707226::T	NC_000011.10:46685676:TTTTTTTTTTTT… NC_000011.10:46685676:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss4234520538, ss5287299924, ss5482514497, ss5748909896	NC_000011.10:46685676::T	NC_000011.10:46685676:TTTTTTTTTTTT… NC_000011.10:46685676:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
3690413809	NC_000011.10:46685676:TTTTTTTTTTTT… NC_000011.10:46685676:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	NC_000011.10:46685676:TTTTTTTTTTTT… NC_000011.10:46685676:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss4234520539	NC_000011.10:46685676::TT	NC_000011.10:46685676:TTTTTTTTTTTT… NC_000011.10:46685676:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
3690413809	NC_000011.10:46685676:TTTTTTTTTTTT… NC_000011.10:46685676:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	NC_000011.10:46685676:TTTTTTTTTTTT… NC_000011.10:46685676:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss4234520540	NC_000011.10:46685676::TTT	NC_000011.10:46685676:TTTTTTTTTTTT… NC_000011.10:46685676:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
3690413809	NC_000011.10:46685676:TTTTTTTTTTTT… NC_000011.10:46685676:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	NC_000011.10:46685676:TTTTTTTTTTTT… NC_000011.10:46685676:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4234520541	NC_000011.10:46685676::TTTT	NC_000011.10:46685676:TTTTTTTTTTTT… NC_000011.10:46685676:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4234520542	NC_000011.10:46685676::TTTTT	NC_000011.10:46685676:TTTTTTTTTTTT… NC_000011.10:46685676:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
3690413809	NC_000011.10:46685676:TTTTTTTTTTTT… NC_000011.10:46685676:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	NC_000011.10:46685676:TTTTTTTTTTTT… NC_000011.10:46685676:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(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 rs34418008

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

rs34418008