rs121912531

Orientation

minus

Stabilized

minus

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

Make rs121912531(A;C)

Make rs121912531(C;C)

Reference

GRCh38 38.1/141

Chromosome

2

Position

48688173

Gene	LHCGR, STON1-GTF2A1L

is a	snp
is	mentioned by
dbSNP	rs121912531
dbSNP (classic)	rs121912531
ClinGen	rs121912531
ebi	rs121912531
HLI	rs121912531
Exac	rs121912531
Gnomad	rs121912531
Varsome	rs121912531
LitVar	rs121912531
Map	rs121912531
PheGenI	rs121912531
Biobank	rs121912531
1000 genomes	rs121912531
hgdp	rs121912531
ensembl	rs121912531
geneview	rs121912531
scholar	rs121912531
google	rs121912531
pharmgkb	rs121912531
gwascentral	rs121912531
openSNP	rs121912531
23andMe	rs121912531
SNPshot	rs121912531
SNPdbe	rs121912531
MSV3d	rs121912531
GWAS Ctlg	rs121912531

Max Magnitude

0

OMIM	152790
Desc
Variant	0018
Related	also

ClinVar
Risk	rs121912531(C;C)
Alt	rs121912531(C;C)
Reference	Rs121912531(A;A)
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.48915312T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015483.26,