rs1057518765

Orientation

plus

Stabilized

plus

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

Make rs1057518765(A;G)

Make rs1057518765(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

3

Position

69949082

Gene

MITF

is a	snp
is	mentioned by
dbSNP	rs1057518765
dbSNP (classic)	rs1057518765
ClinGen	rs1057518765
ebi	rs1057518765
HLI	rs1057518765
Exac	rs1057518765
Gnomad	rs1057518765
Varsome	rs1057518765
LitVar	rs1057518765
Map	rs1057518765
PheGenI	rs1057518765
Biobank	rs1057518765
1000 genomes	rs1057518765
hgdp	rs1057518765
ensembl	rs1057518765
geneview	rs1057518765
scholar	rs1057518765
google	rs1057518765
pharmgkb	rs1057518765
gwascentral	rs1057518765
openSNP	rs1057518765
23andMe	rs1057518765
SNPshot	rs1057518765
SNPdbe	rs1057518765
MSV3d	rs1057518765
GWAS Ctlg	rs1057518765

Max Magnitude

0

ClinVar
Risk	rs1057518765(G;G)
Alt	rs1057518765(G;G)
Reference	Rs1057518765(A;A)
Significance	Probable-Pathogenic
Disease	Waardenburg syndrome
Variation	info
Gene	MITF
CLNDBN	Waardenburg syndrome
Reversed	0
HGVS	NC_000003.11:g.69998233A>G
CLNSRC
CLNACC	RCV000415280.1,