rs104894118

Orientation

minus

Stabilized

minus

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

Make rs104894118(G;T)

Make rs104894118(T;T)

Reference

GRCh38 38.1/141

Chromosome

9

Position

124500196

Gene

NR5A1

is a	snp
is	mentioned by
dbSNP	rs104894118
dbSNP (classic)	rs104894118
ClinGen	rs104894118
ebi	rs104894118
HLI	rs104894118
Exac	rs104894118
Gnomad	rs104894118
Varsome	rs104894118
LitVar	rs104894118
Map	rs104894118
PheGenI	rs104894118
Biobank	rs104894118
1000 genomes	rs104894118
hgdp	rs104894118
ensembl	rs104894118
geneview	rs104894118
scholar	rs104894118
google	rs104894118
pharmgkb	rs104894118
gwascentral	rs104894118
openSNP	rs104894118
23andMe	rs104894118
SNPshot	rs104894118
SNPdbe	rs104894118
MSV3d	rs104894118
GWAS Ctlg	rs104894118

Max Magnitude

0

OMIM	184757
Desc
Variant	0002
Related	also

ClinVar
Risk	rs104894118(A;A) rs104894118(T;T)
Alt	rs104894118(A;A) rs104894118(T;T)
Reference	Rs104894118(G;G)
Significance	Pathogenic
Disease	ADRENAL INSUFFICIENCY
Variation	info
Gene	NR5A1
CLNDBN	ADRENAL INSUFFICIENCY, NR5A1-RELATED
Reversed	1
HGVS	NC_000009.11:g.127262475C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013639.18,