rs121912521

Orientation

minus

Stabilized

minus

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

Make rs121912521(C;T)

Make rs121912521(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

48688067

Gene	LHCGR, STON1-GTF2A1L

is a	snp
is	mentioned by
dbSNP	rs121912521
dbSNP (classic)	rs121912521
ClinGen	rs121912521
ebi	rs121912521
HLI	rs121912521
Exac	rs121912521
Gnomad	rs121912521
Varsome	rs121912521
LitVar	rs121912521
Map	rs121912521
PheGenI	rs121912521
Biobank	rs121912521
1000 genomes	rs121912521
hgdp	rs121912521
ensembl	rs121912521
geneview	rs121912521
scholar	rs121912521
google	rs121912521
pharmgkb	rs121912521
gwascentral	rs121912521
openSNP	rs121912521
23andMe	rs121912521
SNPshot	rs121912521
SNPdbe	rs121912521
MSV3d	rs121912521
GWAS Ctlg	rs121912521

Max Magnitude

0

OMIM	152790
Desc
Variant	0005
Related	also

ClinVar
Risk	rs121912521(T;T)
Alt	rs121912521(T;T)
Reference	Rs121912521(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.48915206G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015467.25,