rs5030773

Orientation

minus

Stabilized

minus

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

Make rs5030773(A;G)

Make rs5030773(G;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

49016273

Gene	LHB, RUVBL2

is a	snp
is	mentioned by
dbSNP	rs5030773
dbSNP (classic)	rs5030773
ClinGen	rs5030773
ebi	rs5030773
HLI	rs5030773
Exac	rs5030773
Gnomad	rs5030773
Varsome	rs5030773
LitVar	rs5030773
Map	rs5030773
PheGenI	rs5030773
Biobank	rs5030773
1000 genomes	rs5030773
hgdp	rs5030773
ensembl	rs5030773
geneview	rs5030773
scholar	rs5030773
google	rs5030773
pharmgkb	rs5030773
gwascentral	rs5030773
openSNP	rs5030773
23andMe	rs5030773
SNPshot	rs5030773
SNPdbe	rs5030773
MSV3d	rs5030773
GWAS Ctlg	rs5030773

Max Magnitude

0

OMIM	152780
Desc
Variant	0001
Related	also

ClinVar
Risk	rs5030773(G;G)
Alt	rs5030773(G;G)
Reference	Rs5030773(A;A)
Significance	Pathogenic
Disease	Isolated lutropin deficiency
Variation	info
Gene	RUVBL2 LHB
CLNDBN	Isolated lutropin deficiency
Reversed	1
HGVS	NC_000019.9:g.49519530T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015494.26,