rs121918117

Orientation

plus

Stabilized

plus

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

Make rs121918117(G;T)

Make rs121918117(T;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

30969116

Gene

GHRHR

is a	snp
is	mentioned by
dbSNP	rs121918117
dbSNP (classic)	rs121918117
ClinGen	rs121918117
ebi	rs121918117
HLI	rs121918117
Exac	rs121918117
Gnomad	rs121918117
Varsome	rs121918117
LitVar	rs121918117
Map	rs121918117
PheGenI	rs121918117
Biobank	rs121918117
1000 genomes	rs121918117
hgdp	rs121918117
ensembl	rs121918117
geneview	rs121918117
scholar	rs121918117
google	rs121918117
pharmgkb	rs121918117
gwascentral	rs121918117
openSNP	rs121918117
23andMe	rs121918117
SNPshot	rs121918117
SNPdbe	rs121918117
MSV3d	rs121918117
GWAS Ctlg	rs121918117

Max Magnitude

0

OMIM	139191
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121918117(A;A) rs121918117(T;T)
Alt	rs121918117(A;A) rs121918117(T;T)
Reference	Rs121918117(G;G)
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.31008731G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000017360.27,