rs121912533

Orientation

minus

Stabilized

minus

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

Make rs121912533(C;C)

Make rs121912533(C;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

48688694

Gene	LHCGR, STON1-GTF2A1L

is a	snp
is	mentioned by
dbSNP	rs121912533
dbSNP (classic)	rs121912533
ClinGen	rs121912533
ebi	rs121912533
HLI	rs121912533
Exac	rs121912533
Gnomad	rs121912533
Varsome	rs121912533
LitVar	rs121912533
Map	rs121912533
PheGenI	rs121912533
Biobank	rs121912533
1000 genomes	rs121912533
hgdp	rs121912533
ensembl	rs121912533
geneview	rs121912533
scholar	rs121912533
google	rs121912533
pharmgkb	rs121912533
gwascentral	rs121912533
openSNP	rs121912533
23andMe	rs121912533
SNPshot	rs121912533
SNPdbe	rs121912533
MSV3d	rs121912533
GWAS Ctlg	rs121912533

Max Magnitude

0

OMIM	152790
Desc
Variant	0022
Related	also

ClinVar
Risk	rs121912533(C;C)
Alt	rs121912533(C;C)
Reference	Rs121912533(T;T)
Significance	Pathogenic
Disease	Gonadotropin-independent familial sexual precocity
Variation	info
Gene	STON1-GTF2A1L GTF2A1L LHCGR
CLNDBN	Gonadotropin-independent familial sexual precocity
Reversed	1
HGVS	NC_000002.11:g.48915833A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015487.25,