rs121912536

Orientation

minus

Stabilized

minus

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

Make rs121912536(A;A)

Make rs121912536(A;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

48688770

Gene	LHCGR, STON1-GTF2A1L

is a	snp
is	mentioned by
dbSNP	rs121912536
dbSNP (classic)	rs121912536
ClinGen	rs121912536
ebi	rs121912536
HLI	rs121912536
Exac	rs121912536
Gnomad	rs121912536
Varsome	rs121912536
LitVar	rs121912536
Map	rs121912536
PheGenI	rs121912536
Biobank	rs121912536
1000 genomes	rs121912536
hgdp	rs121912536
ensembl	rs121912536
geneview	rs121912536
scholar	rs121912536
google	rs121912536
pharmgkb	rs121912536
gwascentral	rs121912536
openSNP	rs121912536
23andMe	rs121912536
SNPshot	rs121912536
SNPdbe	rs121912536
MSV3d	rs121912536
GWAS Ctlg	rs121912536

Max Magnitude

0

OMIM	152790
Desc
Variant	0025
Related	also

ClinVar
Risk	rs121912536(A;A)
Alt	rs121912536(A;A)
Reference	Rs121912536(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.48915909A>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015490.25,