rs786204793

Orientation

minus

Stabilized

minus

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

Make rs786204793(A;A)

Make rs786204793(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

7

Position

56021110

Gene

PSPH

is a	snp
is	mentioned by
dbSNP	rs786204793
dbSNP (classic)	rs786204793
ClinGen	rs786204793
ebi	rs786204793
HLI	rs786204793
Exac	rs786204793
Gnomad	rs786204793
Varsome	rs786204793
LitVar	rs786204793
Map	rs786204793
PheGenI	rs786204793
Biobank	rs786204793
1000 genomes	rs786204793
hgdp	rs786204793
ensembl	rs786204793
geneview	rs786204793
scholar	rs786204793
google	rs786204793
pharmgkb	rs786204793
gwascentral	rs786204793
openSNP	rs786204793
23andMe	rs786204793
SNPshot	rs786204793
SNPdbe	rs786204793
MSV3d	rs786204793
GWAS Ctlg	rs786204793

Max Magnitude

0

ClinVar
Risk	rs786204793(A;A)
Alt	rs786204793(A;A)
Reference	Rs786204793(G;G)
Significance	Pathogenic
Disease	Deficiency of phosphoserine phosphatase
Variation	info
Gene	PSPH
CLNDBN	Deficiency of phosphoserine phosphatase
Reversed	1
HGVS	NC_000007.13:g.56088803C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000169687.4,