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Select item 81377141.

rs8137714 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 22:32475396 (GRCh38)
22:32871383 (GRCh37)
Canonical SPDI:: NC_000022.11:32475395:T:A,NC_000022.11:32475395:T:C,NC_000022.11:32475395:T:G
Gene:: FBXO7 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.20456/50363 (ALFA)
G=0.126632/97 (PRJEB37584)
G=0.135179/83 (Vietnamese)
G=0.146091/426 (KOREAN)
G=0.154279/988 (1000Genomes_30X)
G=0.154952/776 (1000Genomes)
G=0.158419/1146 (Korea4K)
G=0.162162/12 (PRJEB36033)
G=0.166961/189 (Daghestan)
G=0.176774/13910 (PAGE_STUDY)
G=0.185598/49126 (TOPMED)
G=0.18715/2205 (GoESP)
G=0.187295/21860 (ExAC)
G=0.18965/28287 (GnomAD_genomes)
G=0.194757/104 (MGP)
G=0.195312/875 (Estonian)
G=0.211704/785 (TWINSUK)
G=0.216139/833 (ALSPAC)
G=0.225/135 (NorthernSweden)
G=0.228477/69 (FINRISK)
G=0.230425/17845 (TOMMO)
G=0.325/13 (GENOME_DK)
G=0.333333/72 (Qatari)
T=0.406667/61 (SGDP_PRJ)
T=0.5/11 (Siberian)
HGVS:: NC_000022.11:g.32475396T>A, NC_000022.11:g.32475396T>C, NC_000022.11:g.32475396T>G, NC_000022.10:g.32871383T>A, NC_000022.10:g.32871383T>C, NC_000022.10:g.32871383T>G, NG_016001.2:g.5677T>A, NG_016001.2:g.5677T>C, NG_016001.2:g.5677T>G, NM_001257990.2:c.-223T>A, NM_001257990.2:c.-223T>C, NM_001257990.2:c.-223T>G, NM_001257990.1:c.-223T>A, NM_001257990.1:c.-223T>C, NM_001257990.1:c.-223T>G, NM_001033024.2:c.35T>A, NM_001033024.2:c.35T>C, NM_001033024.2:c.35T>G, NM_001033024.1:c.35T>A, NM_001033024.1:c.35T>C, NM_001033024.1:c.35T>G, NG_145487.1:g.425T>A, NG_145487.1:g.425T>C, NG_145487.1:g.425T>G, NP_001028196.1:p.Leu12His, NP_001028196.1:p.Leu12Pro, NP_001028196.1:p.Leu12Arg

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