rs121912520

Orientation

minus

Stabilized

minus

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

Make rs121912520(C;C)

Make rs121912520(C;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

48688020

Gene	LHCGR, STON1-GTF2A1L

is a	snp
is	mentioned by
dbSNP	rs121912520
dbSNP (classic)	rs121912520
ClinGen	rs121912520
ebi	rs121912520
HLI	rs121912520
Exac	rs121912520
Gnomad	rs121912520
Varsome	rs121912520
LitVar	rs121912520
Map	rs121912520
PheGenI	rs121912520
Biobank	rs121912520
1000 genomes	rs121912520
hgdp	rs121912520
ensembl	rs121912520
geneview	rs121912520
scholar	rs121912520
google	rs121912520
pharmgkb	rs121912520
gwascentral	rs121912520
openSNP	rs121912520
23andMe	rs121912520
SNPshot	rs121912520
SNPdbe	rs121912520
MSV3d	rs121912520
GWAS Ctlg	rs121912520

Max Magnitude

0

OMIM	152790
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121912520(C;C)
Alt	rs121912520(C;C)
Reference	Rs121912520(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.48915159C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015465.25, RCV000015466.25,