rs104894346

Orientation

minus

Stabilized

minus

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

Make rs104894346(C;C)

Make rs104894346(C;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

49094511

Gene	DHH, LOC105369759

is a	snp
is	mentioned by
dbSNP	rs104894346
dbSNP (classic)	rs104894346
ClinGen	rs104894346
ebi	rs104894346
HLI	rs104894346
Exac	rs104894346
Gnomad	rs104894346
Varsome	rs104894346
LitVar	rs104894346
Map	rs104894346
PheGenI	rs104894346
Biobank	rs104894346
1000 genomes	rs104894346
hgdp	rs104894346
ensembl	rs104894346
geneview	rs104894346
scholar	rs104894346
google	rs104894346
pharmgkb	rs104894346
gwascentral	rs104894346
openSNP	rs104894346
23andMe	rs104894346
SNPshot	rs104894346
SNPdbe	rs104894346
MSV3d	rs104894346
GWAS Ctlg	rs104894346

Max Magnitude

0

OMIM	605423
Desc
Variant	0001
Related	also

ClinVar
Risk	rs104894346(C;C)
Alt	rs104894346(C;C)
Reference	Rs104894346(T;T)
Significance	Pathogenic
Disease	46
Variation	info
Gene	DHH
CLNDBN	46,XY gonadal dysgenesis, partial, with minifascicular neuropathy
Reversed	1
HGVS	NC_000012.11:g.49488294A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005313.2,