rs121912539

Orientation

minus

Stabilized

minus

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

Make rs121912539(G;T)

Make rs121912539(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

48723650

Gene	LHCGR, STON1-GTF2A1L

is a	snp
is	mentioned by
dbSNP	rs121912539
dbSNP (classic)	rs121912539
ClinGen	rs121912539
ebi	rs121912539
HLI	rs121912539
Exac	rs121912539
Gnomad	rs121912539
Varsome	rs121912539
LitVar	rs121912539
Map	rs121912539
PheGenI	rs121912539
Biobank	rs121912539
1000 genomes	rs121912539
hgdp	rs121912539
ensembl	rs121912539
geneview	rs121912539
scholar	rs121912539
google	rs121912539
pharmgkb	rs121912539
gwascentral	rs121912539
openSNP	rs121912539
23andMe	rs121912539
SNPshot	rs121912539
SNPdbe	rs121912539
MSV3d	rs121912539
GWAS Ctlg	rs121912539

GMAF

0.0004591

Max Magnitude

0

OMIM	152790
Desc
Variant	0028
Related	also

ClinVar
Risk	rs121912539(A;A) rs121912539(T;T)
Alt	rs121912539(A;A) rs121912539(T;T)
Reference	Rs121912539(G;G)
Significance	Pathogenic
Disease	Leydig cell agenesis Gonadotropin-independent familial sexual precocity Hypergonadotropic hypogonadism
Variation	info
Gene	STON1-GTF2A1L GTF2A1L LHCGR
CLNDBN	Leydig cell agenesis Gonadotropin-independent familial sexual precocity Hypergonadotropic hypogonadism
Reversed	1
HGVS	NC_000002.11:g.48950789C>A; NC_000002.11:g.48950789C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015492.25, RCV000280904.1, RCV000338998.1, RCV000401542.1,