rs104894119

Orientation

minus

Stabilized

minus

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

Make rs104894119(A;A)

Make rs104894119(A;G)

Reference

GRCh38 38.1/141

Chromosome

9

Position

124500685

Gene

NR5A1

is a	snp
is	mentioned by
dbSNP	rs104894119
dbSNP (classic)	rs104894119
ClinGen	rs104894119
ebi	rs104894119
HLI	rs104894119
Exac	rs104894119
Gnomad	rs104894119
Varsome	rs104894119
LitVar	rs104894119
Map	rs104894119
PheGenI	rs104894119
Biobank	rs104894119
1000 genomes	rs104894119
hgdp	rs104894119
ensembl	rs104894119
geneview	rs104894119
scholar	rs104894119
google	rs104894119
pharmgkb	rs104894119
gwascentral	rs104894119
openSNP	rs104894119
23andMe	rs104894119
SNPshot	rs104894119
SNPdbe	rs104894119
MSV3d	rs104894119
GWAS Ctlg	rs104894119

Max Magnitude

0

OMIM	184757
Desc
Variant	0003
Related	also

ClinVar
Risk	rs104894119(A;A)
Alt	rs104894119(A;A)
Reference	Rs104894119(G;G)
Significance	Pathogenic
Disease	46 ADRENAL INSUFFICIENCY
Variation	info
Gene	NR5A1
CLNDBN	46,XY sex reversal, type 3 46,XX sex reversal 4 ADRENAL INSUFFICIENCY, NR5A1-RELATED
Reversed	1
HGVS	NC_000009.11:g.127262964C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013640.27, RCV000490544.1, RCV000490549.1,