rs121912527

Orientation

minus

Stabilized

minus

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

Make rs121912527(C;C)

Make rs121912527(C;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

48723689

Gene	LHCGR, STON1-GTF2A1L

is a	snp
is	mentioned by
dbSNP	rs121912527
dbSNP (classic)	rs121912527
ClinGen	rs121912527
ebi	rs121912527
HLI	rs121912527
Exac	rs121912527
Gnomad	rs121912527
Varsome	rs121912527
LitVar	rs121912527
Map	rs121912527
PheGenI	rs121912527
Biobank	rs121912527
1000 genomes	rs121912527
hgdp	rs121912527
ensembl	rs121912527
geneview	rs121912527
scholar	rs121912527
google	rs121912527
pharmgkb	rs121912527
gwascentral	rs121912527
openSNP	rs121912527
23andMe	rs121912527
SNPshot	rs121912527
SNPdbe	rs121912527
MSV3d	rs121912527
GWAS Ctlg	rs121912527

Max Magnitude

0

OMIM	152790
Desc
Variant	0012
Related	also

ClinVar
Risk	rs121912527(C;C)
Alt	rs121912527(C;C)
Reference	Rs121912527(T;T)
Significance	Pathogenic
Disease	Leydig cell hypoplasia
Variation	info
Gene	STON1-GTF2A1L GTF2A1L LHCGR
CLNDBN	Leydig cell hypoplasia, partial
Reversed	1
HGVS	NC_000002.11:g.48950828A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015475.25,