rs606231412

Orientation

plus

Stabilized

plus

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

Make rs606231412(C;C)

Make rs606231412(C;T)

Reference

GRCh38.p2 38.2/144

Chromosome

7

Position

30971170

Gene

GHRHR

is a	snp
is	mentioned by
dbSNP	rs606231412
dbSNP (classic)	rs606231412
ClinGen	rs606231412
ebi	rs606231412
HLI	rs606231412
Exac	rs606231412
Gnomad	rs606231412
Varsome	rs606231412
LitVar	rs606231412
Map	rs606231412
PheGenI	rs606231412
Biobank	rs606231412
1000 genomes	rs606231412
hgdp	rs606231412
ensembl	rs606231412
geneview	rs606231412
scholar	rs606231412
google	rs606231412
pharmgkb	rs606231412
gwascentral	rs606231412
openSNP	rs606231412
23andMe	rs606231412
SNPshot	rs606231412
SNPdbe	rs606231412
MSV3d	rs606231412
GWAS Ctlg	rs606231412

Max Magnitude

0

ClinVar
Risk	rs606231412(C;C)
Alt	rs606231412(C;C)
Reference	Rs606231412(T;T)
Significance	Probable-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.31010785T>C
CLNSRC
CLNACC	RCV000148940.1,