rs121912523

Orientation

minus

Stabilized

minus

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

Make rs121912523(A;A)

Make rs121912523(A;C)

Reference

GRCh38 38.1/141

Chromosome

2

Position

48688162

Gene	LHCGR, STON1-GTF2A1L

is a	snp
is	mentioned by
dbSNP	rs121912523
dbSNP (classic)	rs121912523
ClinGen	rs121912523
ebi	rs121912523
HLI	rs121912523
Exac	rs121912523
Gnomad	rs121912523
Varsome	rs121912523
LitVar	rs121912523
Map	rs121912523
PheGenI	rs121912523
Biobank	rs121912523
1000 genomes	rs121912523
hgdp	rs121912523
ensembl	rs121912523
geneview	rs121912523
scholar	rs121912523
google	rs121912523
pharmgkb	rs121912523
gwascentral	rs121912523
openSNP	rs121912523
23andMe	rs121912523
SNPshot	rs121912523
SNPdbe	rs121912523
MSV3d	rs121912523
GWAS Ctlg	rs121912523

Max Magnitude

0

OMIM	152790
Desc
Variant	0007
Related	also

ClinVar
Risk	rs121912523(A;A)
Alt	rs121912523(A;A)
Reference	Rs121912523(C;C)
Significance	Pathogenic
Disease	Leydig cell agenesis
Variation	info
Gene	STON1-GTF2A1L GTF2A1L LHCGR
CLNDBN	Leydig cell agenesis
Reversed	1
HGVS	NC_000002.11:g.48915301G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000015469.25,