rs121912528

Orientation

minus

Stabilized

minus

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

Make rs121912528(C;T)

Make rs121912528(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

48688679

Gene	LHCGR, STON1-GTF2A1L

is a	snp
is	mentioned by
dbSNP	rs121912528
dbSNP (classic)	rs121912528
ClinGen	rs121912528
ebi	rs121912528
HLI	rs121912528
Exac	rs121912528
Gnomad	rs121912528
Varsome	rs121912528
LitVar	rs121912528
Map	rs121912528
PheGenI	rs121912528
Biobank	rs121912528
1000 genomes	rs121912528
hgdp	rs121912528
ensembl	rs121912528
geneview	rs121912528
scholar	rs121912528
google	rs121912528
pharmgkb	rs121912528
gwascentral	rs121912528
openSNP	rs121912528
23andMe	rs121912528
SNPshot	rs121912528
SNPdbe	rs121912528
MSV3d	rs121912528
GWAS Ctlg	rs121912528

Max Magnitude

0

OMIM	152790
Desc
Variant	0013
Related	also

ClinVar
Risk	rs121912528(T;T)
Alt	rs121912528(T;T)
Reference	Rs121912528(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.48915818G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015476.21,