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rs121913684

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121913684(A;G)
Make rs121913684(G;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position54733094
GeneKIT
is asnp
is mentioned by
dbSNPrs121913684
ebirs121913684
HLIrs121913684
Exacrs121913684
Varsomers121913684
Maprs121913684
PheGenIrs121913684
hapmaprs121913684
1000 genomesrs121913684
hgdprs121913684
ensemblrs121913684
gopubmedrs121913684
geneviewrs121913684
scholarrs121913684
googlers121913684
pharmgkbrs121913684
gwascentralrs121913684
openSNPrs121913684
23andMers121913684
23andMe allrs121913684
SNP Nexus

SNPshotrs121913684
SNPdbers121913684
MSV3drs121913684
GWAS Ctlgrs121913684
Max Magnitude0
OMIM164920
Desc
Variant0016
Relatedalso
ClinVar
Risk rs121913684(G;G)
Alt rs121913684(G;G)
Reference rs121913684(A;A)
Significance Pathogenic
Disease Piebaldism with sensorineural deafness
Variation info
Gene KIT
CLNDBN Piebaldism with sensorineural deafness
Reversed 0
HGVS NC_000004.11:g.55599260A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000014872.21,