rs121912537

Orientation

minus

Stabilized

minus

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

Make rs121912537(C;C)

Make rs121912537(C;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

48688170

Gene	LHCGR, STON1-GTF2A1L

is a	snp
is	mentioned by
dbSNP	rs121912537
dbSNP (classic)	rs121912537
ClinGen	rs121912537
ebi	rs121912537
HLI	rs121912537
Exac	rs121912537
Gnomad	rs121912537
Varsome	rs121912537
LitVar	rs121912537
Map	rs121912537
PheGenI	rs121912537
Biobank	rs121912537
1000 genomes	rs121912537
hgdp	rs121912537
ensembl	rs121912537
geneview	rs121912537
scholar	rs121912537
google	rs121912537
pharmgkb	rs121912537
gwascentral	rs121912537
openSNP	rs121912537
23andMe	rs121912537
SNPshot	rs121912537
SNPdbe	rs121912537
MSV3d	rs121912537
GWAS Ctlg	rs121912537

Max Magnitude

0

OMIM	152790
Desc
Variant	0026
Related	also

ClinVar
Risk	rs121912537(C;C)
Alt	rs121912537(C;C)
Reference	Rs121912537(T;T)
Significance	Pathogenic
Disease	Leydig cell agenesis
Variation	info
Gene	STON1-GTF2A1L GTF2A1L LHCGR
CLNDBN	Leydig cell agenesis
Reversed	1
HGVS	NC_000002.11:g.48915309A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015464.26,