rs104893744

Orientation

plus

Stabilized

plus

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

Make rs104893744(C;C)

Make rs104893744(C;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

69959310

Gene

MITF

is a	snp
is	mentioned by
dbSNP	rs104893744
dbSNP (classic)	rs104893744
ClinGen	rs104893744
ebi	rs104893744
HLI	rs104893744
Exac	rs104893744
Gnomad	rs104893744
Varsome	rs104893744
LitVar	rs104893744
Map	rs104893744
PheGenI	rs104893744
Biobank	rs104893744
1000 genomes	rs104893744
hgdp	rs104893744
ensembl	rs104893744
geneview	rs104893744
scholar	rs104893744
google	rs104893744
pharmgkb	rs104893744
gwascentral	rs104893744
openSNP	rs104893744
23andMe	rs104893744
SNPshot	rs104893744
SNPdbe	rs104893744
MSV3d	rs104893744
GWAS Ctlg	rs104893744

Max Magnitude

0

OMIM	156845
Desc
Variant	0004
Related	also

ClinVar
Risk	rs104893744(C;C)
Alt	rs104893744(C;C)
Reference	Rs104893744(T;T)
Significance	Pathogenic
Disease	Waardenburg syndrome type 2A
Variation	info
Gene	MITF
CLNDBN	Waardenburg syndrome type 2A
Reversed	0
HGVS	NC_000003.11:g.70008461T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000015343.26,