rs104893747

Orientation

plus

Stabilized

plus

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

Make rs104893747(C;C)

Make rs104893747(C;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

69964880

Gene

MITF

is a	snp
is	mentioned by
dbSNP	rs104893747
dbSNP (classic)	rs104893747
ClinGen	rs104893747
ebi	rs104893747
HLI	rs104893747
Exac	rs104893747
Gnomad	rs104893747
Varsome	rs104893747
LitVar	rs104893747
Map	rs104893747
PheGenI	rs104893747
Biobank	rs104893747
1000 genomes	rs104893747
hgdp	rs104893747
ensembl	rs104893747
geneview	rs104893747
scholar	rs104893747
google	rs104893747
pharmgkb	rs104893747
gwascentral	rs104893747
openSNP	rs104893747
23andMe	rs104893747
SNPshot	rs104893747
SNPdbe	rs104893747
MSV3d	rs104893747
GWAS Ctlg	rs104893747

Max Magnitude

0

OMIM	156845
Desc
Variant	0008
Related	also

ClinVar
Risk	rs104893747(C;C)
Alt	rs104893747(C;C)
Reference	Rs104893747(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.70014031T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000015347.26,