rs121912535

Orientation

minus

Stabilized

minus

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

Make rs121912535(G;G)

Make rs121912535(G;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

48688427

Gene	LHCGR, STON1-GTF2A1L

is a	snp
is	mentioned by
dbSNP	rs121912535
dbSNP (classic)	rs121912535
ClinGen	rs121912535
ebi	rs121912535
HLI	rs121912535
Exac	rs121912535
Gnomad	rs121912535
Varsome	rs121912535
LitVar	rs121912535
Map	rs121912535
PheGenI	rs121912535
Biobank	rs121912535
1000 genomes	rs121912535
hgdp	rs121912535
ensembl	rs121912535
geneview	rs121912535
scholar	rs121912535
google	rs121912535
pharmgkb	rs121912535
gwascentral	rs121912535
openSNP	rs121912535
23andMe	rs121912535
SNPshot	rs121912535
SNPdbe	rs121912535
MSV3d	rs121912535
GWAS Ctlg	rs121912535

Max Magnitude

0

OMIM	152790
Desc
Variant	0024
Related	also

ClinVar
Risk	rs121912535(G;G)
Alt	rs121912535(G;G)
Reference	Rs121912535(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.48915566A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015489.25,