rs28936704

Orientation

minus

Stabilized

minus

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

Make rs28936704(A;G)

Make rs28936704(G;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

57198214

Gene

HESX1

is a	snp
is	mentioned by
dbSNP	rs28936704
dbSNP (classic)	rs28936704
ClinGen	rs28936704
ebi	rs28936704
HLI	rs28936704
Exac	rs28936704
Gnomad	rs28936704
Varsome	rs28936704
LitVar	rs28936704
Map	rs28936704
PheGenI	rs28936704
Biobank	rs28936704
1000 genomes	rs28936704
hgdp	rs28936704
ensembl	rs28936704
geneview	rs28936704
scholar	rs28936704
google	rs28936704
pharmgkb	rs28936704
gwascentral	rs28936704
openSNP	rs28936704
23andMe	rs28936704
SNPshot	rs28936704
SNPdbe	rs28936704
MSV3d	rs28936704
GWAS Ctlg	rs28936704

Max Magnitude

0

OMIM	601802
Desc	GROWTH HORMONE DEFICIENCY, HESX1-RELATED
Variant	0003
Related	also

ClinVar
Risk	rs28936704(G;G)
Alt	rs28936704(G;G)
Reference	Rs28936704(A;A)
Significance	Pathogenic
Disease	Growth hormone deficiency with pituitary anomalies
Variation	info
Gene	HESX1
CLNDBN	Growth hormone deficiency with pituitary anomalies
Reversed	1
HGVS	NC_000003.11:g.57232242T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008132.2,