Name: rs61347520
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.

rs61347520

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr11:120410294-120410306 (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)₄ / delTTT / delTT / delT / …
del(T)₄ / delTTT / delTT / delT / dupT / dupTT / dup(T)₇
Variation Type: Indel Insertion and Deletion
Frequency: delT=0.3228 (2085/6460, ALFA)
(T)₁₃=0.4117 (2062/5008, 1000G)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: ARHGEF12 : Intron Variant
Publications: 0 citations
Genomic View: See rs on genome

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	6460	(T)₁₃=0.6752	del(T)₄=0.0000, delTT=0.0003, delT=0.3228, dupT=0.0017
Allele Frequency Aggregator	European	Sub	6062	(T)₁₃=0.6547	del(T)₄=0.0000, delTT=0.0003, delT=0.3431, dupT=0.0018
Allele Frequency Aggregator	African	Sub	162	(T)₁₃=1.000	del(T)₄=0.000, delTT=0.000, delT=0.000, dupT=0.000
Allele Frequency Aggregator	Other	Sub	82	(T)₁₃=0.94	del(T)₄=0.00, delTT=0.00, delT=0.06, dupT=0.00
Allele Frequency Aggregator	Latin American 2	Sub	64	(T)₁₃=1.00	del(T)₄=0.00, delTT=0.00, delT=0.00, dupT=0.00
Allele Frequency Aggregator	Asian	Sub	42	(T)₁₃=1.00	del(T)₄=0.00, delTT=0.00, delT=0.00, dupT=0.00
Allele Frequency Aggregator	Latin American 1	Sub	40	(T)₁₃=1.00	del(T)₄=0.00, delTT=0.00, delT=0.00, dupT=0.00
Allele Frequency Aggregator	South Asian	Sub	8	(T)₁₃=1.0	del(T)₄=0.0, delTT=0.0, delT=0.0, dupT=0.0
1000Genomes	Global	Study-wide	5008	(T)₁₃=0.4117	delT=0.5883
1000Genomes	African	Sub	1322	(T)₁₃=0.2640	delT=0.7360
1000Genomes	East Asian	Sub	1008	(T)₁₃=0.6210	delT=0.3790
1000Genomes	Europe	Sub	1006	(T)₁₃=0.5070	delT=0.4930
1000Genomes	South Asian	Sub	978	(T)₁₃=0.315	delT=0.685
1000Genomes	American	Sub	694	(T)₁₃=0.388	delT=0.612

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.120410303_120410306del
GRCh38.p14 chr 11	NC_000011.10:g.120410304_120410306del
GRCh38.p14 chr 11	NC_000011.10:g.120410305_120410306del
GRCh38.p14 chr 11	NC_000011.10:g.120410306del
GRCh38.p14 chr 11	NC_000011.10:g.120410306dup
GRCh38.p14 chr 11	NC_000011.10:g.120410305_120410306dup
GRCh38.p14 chr 11	NC_000011.10:g.120410300_120410306dup
GRCh37.p13 chr 11	NC_000011.9:g.120281012_120281015del
GRCh37.p13 chr 11	NC_000011.9:g.120281013_120281015del
GRCh37.p13 chr 11	NC_000011.9:g.120281014_120281015del
GRCh37.p13 chr 11	NC_000011.9:g.120281015del
GRCh37.p13 chr 11	NC_000011.9:g.120281015dup
GRCh37.p13 chr 11	NC_000011.9:g.120281014_120281015dup
GRCh37.p13 chr 11	NC_000011.9:g.120281009_120281015dup
ARHGEF12 RefSeqGene	NG_027960.1:g.78395_78398del
ARHGEF12 RefSeqGene	NG_027960.1:g.78396_78398del
ARHGEF12 RefSeqGene	NG_027960.1:g.78397_78398del
ARHGEF12 RefSeqGene	NG_027960.1:g.78398del
ARHGEF12 RefSeqGene	NG_027960.1:g.78398dup
ARHGEF12 RefSeqGene	NG_027960.1:g.78397_78398dup
ARHGEF12 RefSeqGene	NG_027960.1:g.78392_78398dup

Gene: ARHGEF12, Rho guanine nucleotide exchange factor 12 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ARHGEF12 transcript variant 2	NM_001198665.2:c.142+2480… NM_001198665.2:c.142+2480_142+2483del	N/A	Intron Variant
ARHGEF12 transcript variant 3	NM_001301084.2:c.-111+853… NM_001301084.2:c.-111+853_-111+856del	N/A	Intron Variant
ARHGEF12 transcript variant 1	NM_015313.3:c.199+853_199… NM_015313.3:c.199+853_199+856del	N/A	Intron Variant
ARHGEF12 transcript variant X1	XM_006718805.4:c.199+853_… XM_006718805.4:c.199+853_199+856del	N/A	Intron Variant
ARHGEF12 transcript variant X6	XM_011542720.3:c.-111+853… XM_011542720.3:c.-111+853_-111+856del	N/A	Intron Variant
ARHGEF12 transcript variant X4	XM_017017420.2:c.142+2480… XM_017017420.2:c.142+2480_142+2483del	N/A	Intron Variant
ARHGEF12 transcript variant X10	XM_017017421.2:c.-111+853… XM_017017421.2:c.-111+853_-111+856del	N/A	Intron Variant
ARHGEF12 transcript variant X2	XM_047426659.1:c.199+853_… XM_047426659.1:c.199+853_199+856del	N/A	Intron Variant
ARHGEF12 transcript variant X3	XM_047426660.1:c.142+2480… XM_047426660.1:c.142+2480_142+2483del	N/A	Intron Variant
ARHGEF12 transcript variant X5	XM_047426661.1:c.199+853_… XM_047426661.1:c.199+853_199+856del	N/A	Intron Variant
ARHGEF12 transcript variant X7	XM_047426662.1:c.142+2480… XM_047426662.1:c.142+2480_142+2483del	N/A	Intron Variant
ARHGEF12 transcript variant X8	XM_047426663.1:c.-111+248… XM_047426663.1:c.-111+2480_-111+2483del	N/A	Intron Variant
ARHGEF12 transcript variant X9	XM_047426664.1:c.-111+248… XM_047426664.1:c.-111+2480_-111+2483del	N/A	Intron Variant
ARHGEF12 transcript variant X11	XM_047426665.1:c.-110-104… XM_047426665.1:c.-110-10450_-110-10447del	N/A	Intron Variant
ARHGEF12 transcript variant X12	XM_047426666.1:c.-111+853… XM_047426666.1:c.-111+853_-111+856del	N/A	Intron Variant
ARHGEF12 transcript variant X13	XM_047426667.1:c.-111+248… XM_047426667.1:c.-111+2480_-111+2483del	N/A	Intron Variant
ARHGEF12 transcript variant X14	XM_047426668.1:c.-111+248… XM_047426668.1:c.-111+2480_-111+2483del	N/A	Intron Variant
ARHGEF12 transcript variant X15	XM_047426669.1:c.-111+248… XM_047426669.1:c.-111+2480_-111+2483del	N/A	Intron Variant
ARHGEF12 transcript variant X16	XM_047426670.1:c.-111+853… XM_047426670.1:c.-111+853_-111+856del	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)₁₃=	del(T)₄	delTTT	delTT	delT	dupT	dupTT	dup(T)₇
GRCh38.p14 chr 11	NC_000011.10:g.120410294_120410306=	NC_000011.10:g.120410303_120410306del	NC_000011.10:g.120410304_120410306del	NC_000011.10:g.120410305_120410306del	NC_000011.10:g.120410306del	NC_000011.10:g.120410306dup	NC_000011.10:g.120410305_120410306dup	NC_000011.10:g.120410300_120410306dup
GRCh37.p13 chr 11	NC_000011.9:g.120281003_120281015=	NC_000011.9:g.120281012_120281015del	NC_000011.9:g.120281013_120281015del	NC_000011.9:g.120281014_120281015del	NC_000011.9:g.120281015del	NC_000011.9:g.120281015dup	NC_000011.9:g.120281014_120281015dup	NC_000011.9:g.120281009_120281015dup
ARHGEF12 RefSeqGene	NG_027960.1:g.78386_78398=	NG_027960.1:g.78395_78398del	NG_027960.1:g.78396_78398del	NG_027960.1:g.78397_78398del	NG_027960.1:g.78398del	NG_027960.1:g.78398dup	NG_027960.1:g.78397_78398dup	NG_027960.1:g.78392_78398dup
ARHGEF12 transcript variant 2	NM_001198665.1:c.142+2471=	NM_001198665.1:c.142+2480_142+2483del	NM_001198665.1:c.142+2481_142+2483del	NM_001198665.1:c.142+2482_142+2483del	NM_001198665.1:c.142+2483del	NM_001198665.1:c.142+2483dup	NM_001198665.1:c.142+2482_142+2483dup	NM_001198665.1:c.142+2477_142+2483dup
ARHGEF12 transcript variant 2	NM_001198665.2:c.142+2471=	NM_001198665.2:c.142+2480_142+2483del	NM_001198665.2:c.142+2481_142+2483del	NM_001198665.2:c.142+2482_142+2483del	NM_001198665.2:c.142+2483del	NM_001198665.2:c.142+2483dup	NM_001198665.2:c.142+2482_142+2483dup	NM_001198665.2:c.142+2477_142+2483dup
ARHGEF12 transcript variant 3	NM_001301084.2:c.-111+844=	NM_001301084.2:c.-111+853_-111+856del	NM_001301084.2:c.-111+854_-111+856del	NM_001301084.2:c.-111+855_-111+856del	NM_001301084.2:c.-111+856del	NM_001301084.2:c.-111+856dup	NM_001301084.2:c.-111+855_-111+856dup	NM_001301084.2:c.-111+850_-111+856dup
ARHGEF12 transcript variant 1	NM_015313.2:c.199+844=	NM_015313.2:c.199+853_199+856del	NM_015313.2:c.199+854_199+856del	NM_015313.2:c.199+855_199+856del	NM_015313.2:c.199+856del	NM_015313.2:c.199+856dup	NM_015313.2:c.199+855_199+856dup	NM_015313.2:c.199+850_199+856dup
ARHGEF12 transcript variant 1	NM_015313.3:c.199+844=	NM_015313.3:c.199+853_199+856del	NM_015313.3:c.199+854_199+856del	NM_015313.3:c.199+855_199+856del	NM_015313.3:c.199+856del	NM_015313.3:c.199+856dup	NM_015313.3:c.199+855_199+856dup	NM_015313.3:c.199+850_199+856dup
ARHGEF12 transcript variant X1	XM_005271478.1:c.199+844=	XM_005271478.1:c.199+853_199+856del	XM_005271478.1:c.199+854_199+856del	XM_005271478.1:c.199+855_199+856del	XM_005271478.1:c.199+856del	XM_005271478.1:c.199+856dup	XM_005271478.1:c.199+855_199+856dup	XM_005271478.1:c.199+850_199+856dup
ARHGEF12 transcript variant X2	XM_005271479.1:c.-111+844=	XM_005271479.1:c.-111+853_-111+856del	XM_005271479.1:c.-111+854_-111+856del	XM_005271479.1:c.-111+855_-111+856del	XM_005271479.1:c.-111+856del	XM_005271479.1:c.-111+856dup	XM_005271479.1:c.-111+855_-111+856dup	XM_005271479.1:c.-111+850_-111+856dup
ARHGEF12 transcript variant X3	XM_005271480.1:c.-111+844=	XM_005271480.1:c.-111+853_-111+856del	XM_005271480.1:c.-111+854_-111+856del	XM_005271480.1:c.-111+855_-111+856del	XM_005271480.1:c.-111+856del	XM_005271480.1:c.-111+856dup	XM_005271480.1:c.-111+855_-111+856dup	XM_005271480.1:c.-111+850_-111+856dup
ARHGEF12 transcript variant X1	XM_006718805.4:c.199+844=	XM_006718805.4:c.199+853_199+856del	XM_006718805.4:c.199+854_199+856del	XM_006718805.4:c.199+855_199+856del	XM_006718805.4:c.199+856del	XM_006718805.4:c.199+856dup	XM_006718805.4:c.199+855_199+856dup	XM_006718805.4:c.199+850_199+856dup
ARHGEF12 transcript variant X6	XM_011542720.3:c.-111+844=	XM_011542720.3:c.-111+853_-111+856del	XM_011542720.3:c.-111+854_-111+856del	XM_011542720.3:c.-111+855_-111+856del	XM_011542720.3:c.-111+856del	XM_011542720.3:c.-111+856dup	XM_011542720.3:c.-111+855_-111+856dup	XM_011542720.3:c.-111+850_-111+856dup
ARHGEF12 transcript variant X4	XM_017017420.2:c.142+2471=	XM_017017420.2:c.142+2480_142+2483del	XM_017017420.2:c.142+2481_142+2483del	XM_017017420.2:c.142+2482_142+2483del	XM_017017420.2:c.142+2483del	XM_017017420.2:c.142+2483dup	XM_017017420.2:c.142+2482_142+2483dup	XM_017017420.2:c.142+2477_142+2483dup
ARHGEF12 transcript variant X10	XM_017017421.2:c.-111+844=	XM_017017421.2:c.-111+853_-111+856del	XM_017017421.2:c.-111+854_-111+856del	XM_017017421.2:c.-111+855_-111+856del	XM_017017421.2:c.-111+856del	XM_017017421.2:c.-111+856dup	XM_017017421.2:c.-111+855_-111+856dup	XM_017017421.2:c.-111+850_-111+856dup
ARHGEF12 transcript variant X2	XM_047426659.1:c.199+844=	XM_047426659.1:c.199+853_199+856del	XM_047426659.1:c.199+854_199+856del	XM_047426659.1:c.199+855_199+856del	XM_047426659.1:c.199+856del	XM_047426659.1:c.199+856dup	XM_047426659.1:c.199+855_199+856dup	XM_047426659.1:c.199+850_199+856dup
ARHGEF12 transcript variant X3	XM_047426660.1:c.142+2471=	XM_047426660.1:c.142+2480_142+2483del	XM_047426660.1:c.142+2481_142+2483del	XM_047426660.1:c.142+2482_142+2483del	XM_047426660.1:c.142+2483del	XM_047426660.1:c.142+2483dup	XM_047426660.1:c.142+2482_142+2483dup	XM_047426660.1:c.142+2477_142+2483dup
ARHGEF12 transcript variant X5	XM_047426661.1:c.199+844=	XM_047426661.1:c.199+853_199+856del	XM_047426661.1:c.199+854_199+856del	XM_047426661.1:c.199+855_199+856del	XM_047426661.1:c.199+856del	XM_047426661.1:c.199+856dup	XM_047426661.1:c.199+855_199+856dup	XM_047426661.1:c.199+850_199+856dup
ARHGEF12 transcript variant X7	XM_047426662.1:c.142+2471=	XM_047426662.1:c.142+2480_142+2483del	XM_047426662.1:c.142+2481_142+2483del	XM_047426662.1:c.142+2482_142+2483del	XM_047426662.1:c.142+2483del	XM_047426662.1:c.142+2483dup	XM_047426662.1:c.142+2482_142+2483dup	XM_047426662.1:c.142+2477_142+2483dup
ARHGEF12 transcript variant X8	XM_047426663.1:c.-111+2471=	XM_047426663.1:c.-111+2480_-111+2483del	XM_047426663.1:c.-111+2481_-111+2483del	XM_047426663.1:c.-111+2482_-111+2483del	XM_047426663.1:c.-111+2483del	XM_047426663.1:c.-111+2483dup	XM_047426663.1:c.-111+2482_-111+2483dup	XM_047426663.1:c.-111+2477_-111+2483dup
ARHGEF12 transcript variant X9	XM_047426664.1:c.-111+2471=	XM_047426664.1:c.-111+2480_-111+2483del	XM_047426664.1:c.-111+2481_-111+2483del	XM_047426664.1:c.-111+2482_-111+2483del	XM_047426664.1:c.-111+2483del	XM_047426664.1:c.-111+2483dup	XM_047426664.1:c.-111+2482_-111+2483dup	XM_047426664.1:c.-111+2477_-111+2483dup
ARHGEF12 transcript variant X11	XM_047426665.1:c.-110-10459=	XM_047426665.1:c.-110-10450_-110-10447del	XM_047426665.1:c.-110-10449_-110-10447del	XM_047426665.1:c.-110-10448_-110-10447del	XM_047426665.1:c.-110-10447del	XM_047426665.1:c.-110-10447dup	XM_047426665.1:c.-110-10448_-110-10447dup	XM_047426665.1:c.-110-10453_-110-10447dup
ARHGEF12 transcript variant X12	XM_047426666.1:c.-111+844=	XM_047426666.1:c.-111+853_-111+856del	XM_047426666.1:c.-111+854_-111+856del	XM_047426666.1:c.-111+855_-111+856del	XM_047426666.1:c.-111+856del	XM_047426666.1:c.-111+856dup	XM_047426666.1:c.-111+855_-111+856dup	XM_047426666.1:c.-111+850_-111+856dup
ARHGEF12 transcript variant X13	XM_047426667.1:c.-111+2471=	XM_047426667.1:c.-111+2480_-111+2483del	XM_047426667.1:c.-111+2481_-111+2483del	XM_047426667.1:c.-111+2482_-111+2483del	XM_047426667.1:c.-111+2483del	XM_047426667.1:c.-111+2483dup	XM_047426667.1:c.-111+2482_-111+2483dup	XM_047426667.1:c.-111+2477_-111+2483dup
ARHGEF12 transcript variant X14	XM_047426668.1:c.-111+2471=	XM_047426668.1:c.-111+2480_-111+2483del	XM_047426668.1:c.-111+2481_-111+2483del	XM_047426668.1:c.-111+2482_-111+2483del	XM_047426668.1:c.-111+2483del	XM_047426668.1:c.-111+2483dup	XM_047426668.1:c.-111+2482_-111+2483dup	XM_047426668.1:c.-111+2477_-111+2483dup
ARHGEF12 transcript variant X15	XM_047426669.1:c.-111+2471=	XM_047426669.1:c.-111+2480_-111+2483del	XM_047426669.1:c.-111+2481_-111+2483del	XM_047426669.1:c.-111+2482_-111+2483del	XM_047426669.1:c.-111+2483del	XM_047426669.1:c.-111+2483dup	XM_047426669.1:c.-111+2482_-111+2483dup	XM_047426669.1:c.-111+2477_-111+2483dup
ARHGEF12 transcript variant X16	XM_047426670.1:c.-111+844=	XM_047426670.1:c.-111+853_-111+856del	XM_047426670.1:c.-111+854_-111+856del	XM_047426670.1:c.-111+855_-111+856del	XM_047426670.1:c.-111+856del	XM_047426670.1:c.-111+856dup	XM_047426670.1:c.-111+855_-111+856dup	XM_047426670.1:c.-111+850_-111+856dup

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#.

53 SubSNP, 17 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss38737936	Apr 25, 2013 (138)
2	HGSV	ss80807797	Sep 08, 2015 (146)
3	HGSV	ss81629960	Sep 08, 2015 (146)
4	HGSV	ss83312682	Sep 08, 2015 (146)
5	HGSV	ss83415668	Sep 08, 2015 (146)
6	HGSV	ss83503290	Sep 08, 2015 (146)
7	HUMANGENOME_JCVI	ss97440082	Dec 05, 2013 (138)
8	GMI	ss287883409	May 09, 2011 (137)
9	GMI	ss289100062	May 04, 2012 (137)
10	PJP	ss294726415	May 09, 2011 (137)
11	SSMP	ss664027509	Apr 01, 2015 (144)
12	BILGI_BIOE	ss666552403	Apr 25, 2013 (138)
13	1000GENOMES	ss1371595017	Aug 21, 2014 (142)
14	MCHAISSO	ss3063710732	Nov 08, 2017 (151)
15	MCHAISSO	ss3064537592	Nov 08, 2017 (151)
16	MCHAISSO	ss3065452728	Nov 08, 2017 (151)
17	BEROUKHIMLAB	ss3644330662	Oct 12, 2018 (152)
18	BIOINF_KMB_FNS_UNIBA	ss3645224378	Oct 12, 2018 (152)
19	URBANLAB	ss3649719537	Oct 12, 2018 (152)
20	EVA_DECODE	ss3692728225	Jul 13, 2019 (153)
21	EVA_DECODE	ss3692728226	Jul 13, 2019 (153)
22	EVA_DECODE	ss3692728227	Jul 13, 2019 (153)
23	EVA_DECODE	ss3692728228	Jul 13, 2019 (153)
24	ACPOP	ss3738596759	Jul 13, 2019 (153)
25	ACPOP	ss3738596760	Jul 13, 2019 (153)
26	PACBIO	ss3787085517	Jul 13, 2019 (153)
27	PACBIO	ss3792206947	Jul 13, 2019 (153)
28	PACBIO	ss3797089490	Jul 13, 2019 (153)
29	KHV_HUMAN_GENOMES	ss3815221159	Jul 13, 2019 (153)
30	EVA	ss3832871690	Apr 26, 2020 (154)
31	EVA	ss3839999053	Apr 26, 2020 (154)
32	EVA	ss3845481103	Apr 26, 2020 (154)
33	KOGIC	ss3970886928	Apr 26, 2020 (154)
34	KOGIC	ss3970886929	Apr 26, 2020 (154)
35	GNOMAD	ss4243724183	Apr 26, 2021 (155)
36	GNOMAD	ss4243724187	Apr 26, 2021 (155)
37	GNOMAD	ss4243724188	Apr 26, 2021 (155)
38	TOMMO_GENOMICS	ss5204185925	Apr 26, 2021 (155)
39	TOMMO_GENOMICS	ss5204185926	Apr 26, 2021 (155)
40	TOMMO_GENOMICS	ss5204185927	Apr 26, 2021 (155)
41	1000G_HIGH_COVERAGE	ss5289128530	Oct 16, 2022 (156)
42	1000G_HIGH_COVERAGE	ss5289128531	Oct 16, 2022 (156)
43	1000G_HIGH_COVERAGE	ss5289128532	Oct 16, 2022 (156)
44	HUGCELL_USP	ss5484094909	Oct 16, 2022 (156)
45	HUGCELL_USP	ss5484094910	Oct 16, 2022 (156)
46	HUGCELL_USP	ss5484094911	Oct 16, 2022 (156)
47	TOMMO_GENOMICS	ss5752721960	Oct 16, 2022 (156)
48	TOMMO_GENOMICS	ss5752721961	Oct 16, 2022 (156)
49	TOMMO_GENOMICS	ss5752721962	Oct 16, 2022 (156)
50	TOMMO_GENOMICS	ss5752721963	Oct 16, 2022 (156)
51	EVA	ss5837320060	Oct 16, 2022 (156)
52	EVA	ss5850178773	Oct 16, 2022 (156)
53	EVA	ss5921923557	Oct 16, 2022 (156)
54	1000Genomes	NC_000011.9 - 120281003	Oct 12, 2018 (152)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 393843624 (NC_000011.10:120410293::T 270/131632) Row 393843628 (NC_000011.10:120410293:T: 79027/131540) Row 393843629 (NC_000011.10:120410293:TT: 189/131614)...	-	Apr 26, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 393843624 (NC_000011.10:120410293::T 270/131632) Row 393843628 (NC_000011.10:120410293:T: 79027/131540) Row 393843629 (NC_000011.10:120410293:TT: 189/131614)...	-	Apr 26, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 393843624 (NC_000011.10:120410293::T 270/131632) Row 393843628 (NC_000011.10:120410293:T: 79027/131540) Row 393843629 (NC_000011.10:120410293:TT: 189/131614)...	-	Apr 26, 2021 (155)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 393843624 (NC_000011.10:120410293::T 270/131632) Row 393843628 (NC_000011.10:120410293:T: 79027/131540) Row 393843629 (NC_000011.10:120410293:TT: 189/131614)...	-	Apr 26, 2021 (155)
59	Korean Genome Project Submission ignored due to conflicting rows: Row 27264929 (NC_000011.10:120410295:T: 656/1832) Row 27264930 (NC_000011.10:120410296::T 86/1832)	-	Apr 26, 2020 (154)
60	Korean Genome Project Submission ignored due to conflicting rows: Row 27264929 (NC_000011.10:120410295:T: 656/1832) Row 27264930 (NC_000011.10:120410296::T 86/1832)	-	Apr 26, 2020 (154)
61	Northern Sweden Submission ignored due to conflicting rows: Row 11881624 (NC_000011.9:120281002:T: 298/598) Row 11881625 (NC_000011.9:120281002:TT: 1/598)	-	Jul 13, 2019 (153)
62	Northern Sweden Submission ignored due to conflicting rows: Row 11881624 (NC_000011.9:120281002:T: 298/598) Row 11881625 (NC_000011.9:120281002:TT: 1/598)	-	Jul 13, 2019 (153)
63	8.3KJPN Submission ignored due to conflicting rows: Row 62155232 (NC_000011.9:120281002:T: 5257/16758) Row 62155233 (NC_000011.9:120281002:TT: 4/16758) Row 62155234 (NC_000011.9:120281002::T 258/16758)	-	Apr 26, 2021 (155)
64	8.3KJPN Submission ignored due to conflicting rows: Row 62155232 (NC_000011.9:120281002:T: 5257/16758) Row 62155233 (NC_000011.9:120281002:TT: 4/16758) Row 62155234 (NC_000011.9:120281002::T 258/16758)	-	Apr 26, 2021 (155)
65	8.3KJPN Submission ignored due to conflicting rows: Row 62155232 (NC_000011.9:120281002:T: 5257/16758) Row 62155233 (NC_000011.9:120281002:TT: 4/16758) Row 62155234 (NC_000011.9:120281002::T 258/16758)	-	Apr 26, 2021 (155)
66	14KJPN Submission ignored due to conflicting rows: Row 86559064 (NC_000011.10:120410293:T: 8713/28230) Row 86559065 (NC_000011.10:120410293:TT: 3/28230) Row 86559066 (NC_000011.10:120410293::T 422/28230)...	-	Oct 16, 2022 (156)
67	14KJPN Submission ignored due to conflicting rows: Row 86559064 (NC_000011.10:120410293:T: 8713/28230) Row 86559065 (NC_000011.10:120410293:TT: 3/28230) Row 86559066 (NC_000011.10:120410293::T 422/28230)...	-	Oct 16, 2022 (156)
68	14KJPN Submission ignored due to conflicting rows: Row 86559064 (NC_000011.10:120410293:T: 8713/28230) Row 86559065 (NC_000011.10:120410293:TT: 3/28230) Row 86559066 (NC_000011.10:120410293::T 422/28230)...	-	Oct 16, 2022 (156)
69	14KJPN Submission ignored due to conflicting rows: Row 86559064 (NC_000011.10:120410293:T: 8713/28230) Row 86559065 (NC_000011.10:120410293:TT: 3/28230) Row 86559066 (NC_000011.10:120410293::T 422/28230)...	-	Oct 16, 2022 (156)
70	ALFA	NC_000011.10 - 120410294	Apr 26, 2021 (155)

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID	History Updated (Build)
rs145169753	May 11, 2012 (137)
rs368211917	May 13, 2013 (138)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
5399568560	NC_000011.10:120410293:TTTTTTTTTTT… NC_000011.10:120410293:TTTTTTTTTTTTT:TTTTTTTTT	NC_000011.10:120410293:TTTTTTTTTTT… NC_000011.10:120410293:TTTTTTTTTTTTT:TTTTTTTTT	(self)
ss4243724188	NC_000011.10:120410293:TTT:	NC_000011.10:120410293:TTTTTTTTTTT… NC_000011.10:120410293:TTTTTTTTTTTTT:TTTTTTTTTT	(self)
ss3738596760, ss5204185926	NC_000011.9:120281002:TT:	NC_000011.10:120410293:TTTTTTTTTTT… NC_000011.10:120410293:TTTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss3692728225, ss4243724187, ss5289128531, ss5484094911, ss5752721961	NC_000011.10:120410293:TT:	NC_000011.10:120410293:TTTTTTTTTTT… NC_000011.10:120410293:TTTTTTTTTTTTT:TTTTTTTTTTT	(self)
5399568560	NC_000011.10:120410293:TTTTTTTTTTT… NC_000011.10:120410293:TTTTTTTTTTTTT:TTTTTTTTTTT	NC_000011.10:120410293:TTTTTTTTTTT… NC_000011.10:120410293:TTTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss289100062, ss294726415	NC_000011.8:119786212:T:	NC_000011.10:120410293:TTTTTTTTTTT… NC_000011.10:120410293:TTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss80807797, ss81629960, ss83312682, ss83415668, ss83503290	NC_000011.8:119786224:T:	NC_000011.10:120410293:TTTTTTTTTTT… NC_000011.10:120410293:TTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
55819342, ss664027509, ss666552403, ss1371595017, ss3644330662, ss3738596759, ss3787085517, ss3792206947, ss3797089490, ss3832871690, ss3839999053, ss5204185925, ss5837320060	NC_000011.9:120281002:T:	NC_000011.10:120410293:TTTTTTTTTTT… NC_000011.10:120410293:TTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss3063710732, ss3064537592, ss3065452728, ss3645224378, ss3649719537, ss3815221159, ss3845481103, ss5289128530, ss5484094909, ss5752721960, ss5850178773, ss5921923557	NC_000011.10:120410293:T:	NC_000011.10:120410293:TTTTTTTTTTT… NC_000011.10:120410293:TTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
5399568560	NC_000011.10:120410293:TTTTTTTTTTT… NC_000011.10:120410293:TTTTTTTTTTTTT:TTTTTTTTTTTT	NC_000011.10:120410293:TTTTTTTTTTT… NC_000011.10:120410293:TTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss3692728226	NC_000011.10:120410294:T:	NC_000011.10:120410293:TTTTTTTTTTT… NC_000011.10:120410293:TTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss3970886928	NC_000011.10:120410295:T:	NC_000011.10:120410293:TTTTTTTTTTT… NC_000011.10:120410293:TTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss38737936, ss287883409	NT_033899.8:23843418:T:	NC_000011.10:120410293:TTTTTTTTTTT… NC_000011.10:120410293:TTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss97440082	NT_033899.8:23843430:T:	NC_000011.10:120410293:TTTTTTTTTTT… NC_000011.10:120410293:TTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss5204185927	NC_000011.9:120281002::T	NC_000011.10:120410293:TTTTTTTTTTT… NC_000011.10:120410293:TTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss4243724183, ss5289128532, ss5484094910, ss5752721962	NC_000011.10:120410293::T	NC_000011.10:120410293:TTTTTTTTTTT… NC_000011.10:120410293:TTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
5399568560	NC_000011.10:120410293:TTTTTTTTTTT… NC_000011.10:120410293:TTTTTTTTTTTTT:TTTTTTTTTTTTTT	NC_000011.10:120410293:TTTTTTTTTTT… NC_000011.10:120410293:TTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss3692728227	NC_000011.10:120410295::T	NC_000011.10:120410293:TTTTTTTTTTT… NC_000011.10:120410293:TTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss3970886929	NC_000011.10:120410296::T	NC_000011.10:120410293:TTTTTTTTTTT… NC_000011.10:120410293:TTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss5752721963	NC_000011.10:120410293::TT	NC_000011.10:120410293:TTTTTTTTTTT… NC_000011.10:120410293:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT
ss3692728228	NC_000011.10:120410295::TTTTTTT	NC_000011.10:120410293:TTTTTTTTTTT… NC_000011.10:120410293:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(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 rs61347520

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

rs61347520