rs1057519327

Orientation

plus

Stabilized

plus

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

Make rs1057519327(A;A)

Make rs1057519327(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

3

Position

69956454

Gene

MITF

is a	snp
is	mentioned by
dbSNP	rs1057519327
dbSNP (classic)	rs1057519327
ClinGen	rs1057519327
ebi	rs1057519327
HLI	rs1057519327
Exac	rs1057519327
Gnomad	rs1057519327
Varsome	rs1057519327
LitVar	rs1057519327
Map	rs1057519327
PheGenI	rs1057519327
Biobank	rs1057519327
1000 genomes	rs1057519327
hgdp	rs1057519327
ensembl	rs1057519327
geneview	rs1057519327
scholar	rs1057519327
google	rs1057519327
pharmgkb	rs1057519327
gwascentral	rs1057519327
openSNP	rs1057519327
23andMe	rs1057519327
SNPshot	rs1057519327
SNPdbe	rs1057519327
MSV3d	rs1057519327
GWAS Ctlg	rs1057519327

Max Magnitude

0

ClinVar
Risk	rs1057519327(A;A)
Alt	rs1057519327(A;A)
Reference	Rs1057519327(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.70005605G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000416298.1, RCV000416310.1,