rs121912538

Orientation

minus

Stabilized

minus

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

Make rs121912538(C;C)

Make rs121912538(C;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

48688292

Gene	LHCGR, STON1-GTF2A1L

is a	snp
is	mentioned by
dbSNP	rs121912538
dbSNP (classic)	rs121912538
ClinGen	rs121912538
ebi	rs121912538
HLI	rs121912538
Exac	rs121912538
Gnomad	rs121912538
Varsome	rs121912538
LitVar	rs121912538
Map	rs121912538
PheGenI	rs121912538
Biobank	rs121912538
1000 genomes	rs121912538
hgdp	rs121912538
ensembl	rs121912538
geneview	rs121912538
scholar	rs121912538
google	rs121912538
pharmgkb	rs121912538
gwascentral	rs121912538
openSNP	rs121912538
23andMe	rs121912538
SNPshot	rs121912538
SNPdbe	rs121912538
MSV3d	rs121912538
GWAS Ctlg	rs121912538

Max Magnitude

0

OMIM	152790
Desc
Variant	0027
Related	also

ClinVar
Risk	rs121912538(C;C)
Alt	rs121912538(C;C)
Reference	Rs121912538(T;T)
Significance	Pathogenic
Disease	Leydig cell agenesis
Variation	info
Gene	STON1-GTF2A1L GTF2A1L LHCGR
CLNDBN	Leydig cell agenesis
Reversed	1
HGVS	NC_000002.11:g.48915431A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015491.25,