rs104893746

Orientation

plus

Stabilized

plus

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

Make rs104893746(C;T)

Make rs104893746(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

69956460

Gene

MITF

is a	snp
is	mentioned by
dbSNP	rs104893746
dbSNP (classic)	rs104893746
ClinGen	rs104893746
ebi	rs104893746
HLI	rs104893746
Exac	rs104893746
Gnomad	rs104893746
Varsome	rs104893746
LitVar	rs104893746
Map	rs104893746
PheGenI	rs104893746
Biobank	rs104893746
1000 genomes	rs104893746
hgdp	rs104893746
ensembl	rs104893746
geneview	rs104893746
scholar	rs104893746
google	rs104893746
pharmgkb	rs104893746
gwascentral	rs104893746
openSNP	rs104893746
23andMe	rs104893746
SNPshot	rs104893746
SNPdbe	rs104893746
MSV3d	rs104893746
GWAS Ctlg	rs104893746

Max Magnitude

0

OMIM	156845
Desc
Variant	0007
Related	also

ClinVar
Risk	rs104893746(T;T)
Alt	rs104893746(T;T)
Reference	Rs104893746(C;C)
Significance	Pathogenic
Disease	Waardenburg syndrome type 2A Hearing impairment Heterochromia iridis Poliosis Prelingual sensorineural hearing impairment
Variation	info
Gene	MITF
CLNDBN	Waardenburg syndrome type 2A Hearing impairment Heterochromia iridis Poliosis Prelingual sensorineural hearing impairment
Reversed	0
HGVS	NC_000003.11:g.70005611C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000015346.27, RCV000414854.1, RCV000415265.1,