rs104894126

Orientation

minus

Stabilized

minus

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

Make rs104894126(A;A)

Make rs104894126(A;G)

Reference

GRCh38 38.1/141

Chromosome

9

Position

124500689

Gene

NR5A1

is a	snp
is	mentioned by
dbSNP	rs104894126
dbSNP (classic)	rs104894126
ClinGen	rs104894126
ebi	rs104894126
HLI	rs104894126
Exac	rs104894126
Gnomad	rs104894126
Varsome	rs104894126
LitVar	rs104894126
Map	rs104894126
PheGenI	rs104894126
Biobank	rs104894126
1000 genomes	rs104894126
hgdp	rs104894126
ensembl	rs104894126
geneview	rs104894126
scholar	rs104894126
google	rs104894126
pharmgkb	rs104894126
gwascentral	rs104894126
openSNP	rs104894126
23andMe	rs104894126
SNPshot	rs104894126
SNPdbe	rs104894126
MSV3d	rs104894126
GWAS Ctlg	rs104894126

Max Magnitude

0

OMIM	184757
Desc
Variant	0009
Related	also

ClinVar
Risk	rs104894126(A;A)
Alt	rs104894126(A;A)
Reference	Rs104894126(G;G)
Significance	Pathogenic
Disease	46
Variation	info
Gene	NR5A1
CLNDBN	46,XY sex reversal, type 3
Reversed	1
HGVS	NC_000009.11:g.127262968C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013646.24,