rs121912529

Orientation

minus

Stabilized

minus

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

Make rs121912529(A;A)

Make rs121912529(A;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

48688737

Gene	LHCGR, STON1-GTF2A1L

is a	snp
is	mentioned by
dbSNP	rs121912529
dbSNP (classic)	rs121912529
ClinGen	rs121912529
ebi	rs121912529
HLI	rs121912529
Exac	rs121912529
Gnomad	rs121912529
Varsome	rs121912529
LitVar	rs121912529
Map	rs121912529
PheGenI	rs121912529
Biobank	rs121912529
1000 genomes	rs121912529
hgdp	rs121912529
ensembl	rs121912529
geneview	rs121912529
scholar	rs121912529
google	rs121912529
pharmgkb	rs121912529
gwascentral	rs121912529
openSNP	rs121912529
23andMe	rs121912529
SNPshot	rs121912529
SNPdbe	rs121912529
MSV3d	rs121912529
GWAS Ctlg	rs121912529

Max Magnitude

0

OMIM	152790
Desc
Variant	0014
Related	also

ClinVar
Risk	rs121912529(A;A)
Alt	rs121912529(A;A)
Reference	Rs121912529(G;G)
Significance	Pathogenic
Disease	Leydig cell agenesis Luteinizing hormone resistance
Variation	info
Gene	STON1-GTF2A1L GTF2A1L LHCGR
CLNDBN	Leydig cell agenesis Luteinizing hormone resistance, female
Reversed	1
HGVS	NC_000002.11:g.48915876C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015477.25, RCV000015478.25,