rs104893745

Orientation

plus

Stabilized

plus

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

Make rs104893745(C;G)

Make rs104893745(G;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

69951882

Gene

MITF

is a	snp
is	mentioned by
dbSNP	rs104893745
dbSNP (classic)	rs104893745
ClinGen	rs104893745
ebi	rs104893745
HLI	rs104893745
Exac	rs104893745
Gnomad	rs104893745
Varsome	rs104893745
LitVar	rs104893745
Map	rs104893745
PheGenI	rs104893745
Biobank	rs104893745
1000 genomes	rs104893745
hgdp	rs104893745
ensembl	rs104893745
geneview	rs104893745
scholar	rs104893745
google	rs104893745
pharmgkb	rs104893745
gwascentral	rs104893745
openSNP	rs104893745
23andMe	rs104893745
SNPshot	rs104893745
SNPdbe	rs104893745
MSV3d	rs104893745
GWAS Ctlg	rs104893745

Max Magnitude

0

OMIM	156845
Desc
Variant	0006
Related	also

ClinVar
Risk	rs104893745(G;G)
Alt	rs104893745(G;G)
Reference	Rs104893745(C;C)
Significance	Pathogenic
Disease	Tietz syndrome
Variation	info
Gene	MITF
CLNDBN	Tietz syndrome
Reversed	0
HGVS	NC_000003.11:g.70001033C>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000015345.27,