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Select item 47797941.

rs4779794 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:30905361 (GRCh38)
15:31197564 (GRCh37)
Canonical SPDI:: NC_000015.10:30905360:G:A
Gene:: FAN1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,missense_variant,intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.427115/139090 (ALFA)
G=0.1706485/500 (KOREAN)
G=0.1737206/1256 (Korea4K)
G=0.1987784/15393 (TOMMO)
G=0.213355/131 (Vietnamese)
G=0.2604167/100 (SGDP_PRJ)
A=0.3195171/4155 (GoESP)
G=0.326087/15 (Siberian)
A=0.3583059/94840 (TOPMED)
A=0.3638789/28638 (PAGE_STUDY)
A=0.3658185/54515 (GnomAD_genomes)
A=0.3808263/719 (HapMap)
A=0.3842593/83 (Qatari)
A=0.4060268/1819 (Estonian)
A=0.406367/217 (MGP)
A=0.4072455/2608 (1000Genomes_30X)
A=0.422524/2116 (1000Genomes)
A=0.437972/1624 (TWINSUK)
A=0.4434458/621194 (GnomAD_exomes)
A=0.4439543/1711 (ALSPAC)
A=0.4498998/449 (GoNL)
A=0.4594048/55633 (ExAC)
G=0.4716667/283 (NorthernSweden)
G=0.475/19 (GENOME_DK)
A=0.4784069/997 (HGDP_Stanford)
A=0.4967105/151 (FINRISK)
G=0.5/22 (PRJEB36033)
HGVS:: NC_000015.10:g.30905361G>A, NC_000015.9:g.31197564G>A, NG_032946.2:g.6510G>A, NM_014967.5:c.698G>A, NM_014967.4:c.698G>A, NM_001146096.2:c.698G>A, NM_001146096.1:c.698G>A, NM_001146094.2:c.698G>A, NM_001146094.1:c.698G>A, NM_001146095.1:c.698G>A, NW_011332701.1:g.3078641G>A, NT_187660.1:g.3191093G>A, XM_011521372.3:c.698G>A, XM_011521372.2:c.698G>A, XM_011521372.1:c.698G>A, XM_047432250.1:c.698G>A, XM_054331739.1:c.698G>A, XM_054330002.1:c.698G>A, XM_054331742.1:c.698G>A, XM_054330005.1:c.698G>A, NP_055782.3:p.Gly233Glu, NP_001139568.1:p.Gly233Glu, NP_001139566.1:p.Gly233Glu, NP_001139567.1:p.Gly233Glu, XP_011519674.1:p.Gly233Glu, XP_047288206.1:p.Gly233Glu

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