rs1057519325

Orientation

plus

Stabilized

plus

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

Make rs1057519325(C;C)

Make rs1057519325(C;G)

Reference

GRCh38.p7 38.3/150

Chromosome

3

Position

69951870

Gene

MITF

is a	snp
is	mentioned by
dbSNP	rs1057519325
dbSNP (classic)	rs1057519325
ClinGen	rs1057519325
ebi	rs1057519325
HLI	rs1057519325
Exac	rs1057519325
Gnomad	rs1057519325
Varsome	rs1057519325
LitVar	rs1057519325
Map	rs1057519325
PheGenI	rs1057519325
Biobank	rs1057519325
1000 genomes	rs1057519325
hgdp	rs1057519325
ensembl	rs1057519325
geneview	rs1057519325
scholar	rs1057519325
google	rs1057519325
pharmgkb	rs1057519325
gwascentral	rs1057519325
openSNP	rs1057519325
23andMe	rs1057519325
SNPshot	rs1057519325
SNPdbe	rs1057519325
MSV3d	rs1057519325
GWAS Ctlg	rs1057519325

Max Magnitude

0

ClinVar
Risk	rs1057519325(C;C)
Alt	rs1057519325(C;C)
Reference	Rs1057519325(G;G)
Significance	Pathogenic
Disease	Coloboma Waardenburg syndrome type 2A
Variation	info
Gene	MITF
CLNDBN	Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness Waardenburg syndrome type 2A
Reversed	0
HGVS	NC_000003.11:g.70001021G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000416286.1, RCV000416300.1,