rs121913684

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar

Make rs121913684(A;G)

Make rs121913684(G;G)

Reference

GRCh38 38.1/141

Chromosome

4

Position

54733094

Gene

KIT

is a	snp
is	mentioned by
dbSNP	rs121913684
dbSNP (classic)	rs121913684
ClinGen	rs121913684
ebi	rs121913684
HLI	rs121913684
Exac	rs121913684
Gnomad	rs121913684
Varsome	rs121913684
LitVar	rs121913684
Map	rs121913684
PheGenI	rs121913684
Biobank	rs121913684
1000 genomes	rs121913684
hgdp	rs121913684
ensembl	rs121913684
geneview	rs121913684
scholar	rs121913684
google	rs121913684
pharmgkb	rs121913684
gwascentral	rs121913684
openSNP	rs121913684
23andMe	rs121913684
SNPshot	rs121913684
SNPdbe	rs121913684
MSV3d	rs121913684
GWAS Ctlg	rs121913684

Max Magnitude

0

OMIM	164920
Desc
Variant	0016
Related	also

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 UniProtKB (protein)
CLNACC	RCV000014872.21,