rs121912525

Orientation

minus

Stabilized

minus

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

Make rs121912525(A;A)

Make rs121912525(A;C)

Reference

GRCh38 38.1/141

Chromosome

2

Position

48687950

Gene	LHCGR, STON1-GTF2A1L

is a	snp
is	mentioned by
dbSNP	rs121912525
dbSNP (classic)	rs121912525
ClinGen	rs121912525
ebi	rs121912525
HLI	rs121912525
Exac	rs121912525
Gnomad	rs121912525
Varsome	rs121912525
LitVar	rs121912525
Map	rs121912525
PheGenI	rs121912525
Biobank	rs121912525
1000 genomes	rs121912525
hgdp	rs121912525
ensembl	rs121912525
geneview	rs121912525
scholar	rs121912525
google	rs121912525
pharmgkb	rs121912525
gwascentral	rs121912525
openSNP	rs121912525
23andMe	rs121912525
SNPshot	rs121912525
SNPdbe	rs121912525
MSV3d	rs121912525
GWAS Ctlg	rs121912525

Max Magnitude

0

OMIM	152790
Desc
Variant	0009
Related	also

ClinVar
Risk	rs121912525(A;A)
Alt	rs121912525(A;A)
Reference	Rs121912525(C;C)
Significance	Pathogenic
Disease	Leydig hypoplasia
Variation	info
Gene	STON1-GTF2A1L GTF2A1L LHCGR
CLNDBN	Leydig hypoplasia, type I
Reversed	1
HGVS	NC_000002.11:g.48915089G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015472.25,