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Select item 134069351.

rs13406935 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 2:85548885 (GRCh38)
2:85776008 (GRCh37)
Canonical SPDI:: NC_000002.12:85548884:A:G,NC_000002.12:85548884:A:T
Gene:: GGCX (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.050115/869 (ALFA)
T=0.046309/335 (Korea4K)
T=0.050853/149 (KOREAN)
T=0.067662/5240 (TOMMO)
T=0.075/3 (GENOME_DK)
T=0.081667/49 (NorthernSweden)
T=0.090062/29 (HapMap)
T=0.09308/417 (Estonian)
T=0.097222/21 (Vietnamese)
T=0.112598/16796 (GnomAD_genomes)
T=0.1128/29857 (TOPMED)
T=0.116502/449 (ALSPAC)
T=0.11881/595 (1000Genomes)
T=0.118832/761 (1000Genomes_30X)
T=0.130261/130 (GoNL)
T=0.132686/492 (TWINSUK)
T=0.175926/38 (Qatari)
A=0.444444/48 (SGDP_PRJ)
A=0.5/5 (Siberian)
HGVS:: NC_000002.12:g.85548885A>G, NC_000002.12:g.85548885A>T, NC_000002.11:g.85776008A>G, NC_000002.11:g.85776008A>T, NG_011811.2:g.17650T>C, NG_011811.2:g.17650T>A, NM_000821.7:c.*1049T>C, NM_000821.7:c.*1049T>A, NM_000821.6:c.*1049T>C, NM_000821.6:c.*1049T>A, NM_000821.5:c.*1049T>C, NM_000821.5:c.*1049T>A, NM_001142269.4:c.*1049T>C, NM_001142269.4:c.*1049T>A, NM_001142269.3:c.*1049T>C, NM_001142269.3:c.*1049T>A, NM_001142269.2:c.*1049T>C, NM_001142269.2:c.*1049T>A, XM_005264259.6:c.*1049T>C, XM_005264259.6:c.*1049T>A, XM_005264259.4:c.*1049T>C, XM_005264259.4:c.*1049T>A, XM_017003803.3:c.*1049T>C, XM_017003803.3:c.*1049T>A, XM_017003803.1:c.*1049T>C, XM_017003803.1:c.*1049T>A, XM_047443919.1:c.*1049T>C, XM_047443919.1:c.*1049T>A

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