rs121918118

Orientation

plus

Stabilized

plus

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

Make rs121918118(A;A)

Make rs121918118(A;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

30971183

Gene

GHRHR

is a	snp
is	mentioned by
dbSNP	rs121918118
dbSNP (classic)	rs121918118
ClinGen	rs121918118
ebi	rs121918118
HLI	rs121918118
Exac	rs121918118
Gnomad	rs121918118
Varsome	rs121918118
LitVar	rs121918118
Map	rs121918118
PheGenI	rs121918118
Biobank	rs121918118
1000 genomes	rs121918118
hgdp	rs121918118
ensembl	rs121918118
geneview	rs121918118
scholar	rs121918118
google	rs121918118
pharmgkb	rs121918118
gwascentral	rs121918118
openSNP	rs121918118
23andMe	rs121918118
SNPshot	rs121918118
SNPdbe	rs121918118
MSV3d	rs121918118
GWAS Ctlg	rs121918118

GMAF

0.0004591

Max Magnitude

0

OMIM	139191
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121918118(A;A)
Alt	rs121918118(A;A)
Reference	Rs121918118(T;T)
Significance	Pathogenic
Disease	Isolated growth hormone deficiency type 1B
Variation	info
Gene	GHRHR
CLNDBN	Isolated growth hormone deficiency type 1B
Reversed	0
HGVS	NC_000007.13:g.31010798T>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000017362.26,