rs121912534

Orientation

minus

Stabilized

minus

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

Make rs121912534(C;T)

Make rs121912534(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

48688094

Gene	LHCGR, STON1-GTF2A1L

is a	snp
is	mentioned by
dbSNP	rs121912534
dbSNP (classic)	rs121912534
ClinGen	rs121912534
ebi	rs121912534
HLI	rs121912534
Exac	rs121912534
Gnomad	rs121912534
Varsome	rs121912534
LitVar	rs121912534
Map	rs121912534
PheGenI	rs121912534
Biobank	rs121912534
1000 genomes	rs121912534
hgdp	rs121912534
ensembl	rs121912534
geneview	rs121912534
scholar	rs121912534
google	rs121912534
pharmgkb	rs121912534
gwascentral	rs121912534
openSNP	rs121912534
23andMe	rs121912534
SNPshot	rs121912534
SNPdbe	rs121912534
MSV3d	rs121912534
GWAS Ctlg	rs121912534

Max Magnitude

0

OMIM	152790
Desc
Variant	0023
Related	also

ClinVar
Risk	rs121912534(T;T)
Alt	rs121912534(T;T)
Reference	Rs121912534(C;C)
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.48915233G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015488.25,