rs104894123

Orientation

minus

Stabilized

minus

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

Make rs104894123(A;A)

Make rs104894123(A;C)

Reference

GRCh38 38.1/141

Chromosome

9

Position

124503348

Gene

NR5A1

is a	snp
is	mentioned by
dbSNP	rs104894123
dbSNP (classic)	rs104894123
ClinGen	rs104894123
ebi	rs104894123
HLI	rs104894123
Exac	rs104894123
Gnomad	rs104894123
Varsome	rs104894123
LitVar	rs104894123
Map	rs104894123
PheGenI	rs104894123
Biobank	rs104894123
1000 genomes	rs104894123
hgdp	rs104894123
ensembl	rs104894123
geneview	rs104894123
scholar	rs104894123
google	rs104894123
pharmgkb	rs104894123
gwascentral	rs104894123
openSNP	rs104894123
23andMe	rs104894123
SNPshot	rs104894123
SNPdbe	rs104894123
MSV3d	rs104894123
GWAS Ctlg	rs104894123

Max Magnitude

0

OMIM	184757
Desc
Variant	0005
Related	also

ClinVar
Risk	rs104894123(A;A) rs104894123(T;T)
Alt	rs104894123(A;A) rs104894123(T;T)
Reference	Rs104894123(C;C)
Significance	Pathogenic
Disease	46
Variation	info
Gene	NR5A1
CLNDBN	46,XY sex reversal, type 3
Reversed	1
HGVS	NC_000009.11:g.127265627G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000013642.24,