rs121912522

Orientation

minus

Stabilized

minus

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

Make rs121912522(C;T)

Make rs121912522(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

48688082

Gene	LHCGR, STON1-GTF2A1L

is a	snp
is	mentioned by
dbSNP	rs121912522
dbSNP (classic)	rs121912522
ClinGen	rs121912522
ebi	rs121912522
HLI	rs121912522
Exac	rs121912522
Gnomad	rs121912522
Varsome	rs121912522
LitVar	rs121912522
Map	rs121912522
PheGenI	rs121912522
Biobank	rs121912522
1000 genomes	rs121912522
hgdp	rs121912522
ensembl	rs121912522
geneview	rs121912522
scholar	rs121912522
google	rs121912522
pharmgkb	rs121912522
gwascentral	rs121912522
openSNP	rs121912522
23andMe	rs121912522
SNPshot	rs121912522
SNPdbe	rs121912522
MSV3d	rs121912522
GWAS Ctlg	rs121912522

Max Magnitude

0

OMIM	152790
Desc
Variant	0006
Related	also

ClinVar
Risk	rs121912522(T;T)
Alt	rs121912522(T;T)
Reference	Rs121912522(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.48915221G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015468.21,