rs1057519326

Orientation

plus

Stabilized

plus

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

Make rs1057519326(A;G)

Make rs1057519326(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

3

Position

69956469

Gene

MITF

is a	snp
is	mentioned by
dbSNP	rs1057519326
dbSNP (classic)	rs1057519326
ClinGen	rs1057519326
ebi	rs1057519326
HLI	rs1057519326
Exac	rs1057519326
Gnomad	rs1057519326
Varsome	rs1057519326
LitVar	rs1057519326
Map	rs1057519326
PheGenI	rs1057519326
Biobank	rs1057519326
1000 genomes	rs1057519326
hgdp	rs1057519326
ensembl	rs1057519326
geneview	rs1057519326
scholar	rs1057519326
google	rs1057519326
pharmgkb	rs1057519326
gwascentral	rs1057519326
openSNP	rs1057519326
23andMe	rs1057519326
SNPshot	rs1057519326
SNPdbe	rs1057519326
MSV3d	rs1057519326
GWAS Ctlg	rs1057519326

Max Magnitude

0

ClinVar
Risk	rs1057519326(G;G)
Alt	rs1057519326(G;G)
Reference	Rs1057519326(A;A)
Significance	Pathogenic
Disease	Waardenburg syndrome type 2A Coloboma
Variation	info
Gene	MITF
CLNDBN	Waardenburg syndrome type 2A Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness
Reversed	0
HGVS	NC_000003.11:g.70005620A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000416288.1, RCV000416308.1,