rs104893742

Orientation

minus

Stabilized

minus

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

Make rs104893742(A;A)

Make rs104893742(A;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

57198405

Gene

HESX1

is a	snp
is	mentioned by
dbSNP	rs104893742
dbSNP (classic)	rs104893742
ClinGen	rs104893742
ebi	rs104893742
HLI	rs104893742
Exac	rs104893742
Gnomad	rs104893742
Varsome	rs104893742
LitVar	rs104893742
Map	rs104893742
PheGenI	rs104893742
Biobank	rs104893742
1000 genomes	rs104893742
hgdp	rs104893742
ensembl	rs104893742
geneview	rs104893742
scholar	rs104893742
google	rs104893742
pharmgkb	rs104893742
gwascentral	rs104893742
openSNP	rs104893742
23andMe	rs104893742
SNPshot	rs104893742
SNPdbe	rs104893742
MSV3d	rs104893742
GWAS Ctlg	rs104893742

Max Magnitude

0

OMIM	601802
Desc
Variant	0009
Related	also

ClinVar
Risk	rs104893742(A;A)
Alt	rs104893742(A;A)
Reference	Rs104893742(G;G)
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.57232433C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008138.2,