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rs786204793

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786204793(A;A)
Make rs786204793(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome7
Position56021110
GenePSPH
is asnp
is mentioned by
dbSNPrs786204793
ebirs786204793
HLIrs786204793
Exacrs786204793
Varsomers786204793
Maprs786204793
PheGenIrs786204793
hapmaprs786204793
1000 genomesrs786204793
hgdprs786204793
ensemblrs786204793
gopubmedrs786204793
geneviewrs786204793
scholarrs786204793
googlers786204793
pharmgkbrs786204793
gwascentralrs786204793
openSNPrs786204793
23andMers786204793
23andMe allrs786204793
SNP Nexus

SNPshotrs786204793
SNPdbers786204793
MSV3drs786204793
GWAS Ctlgrs786204793
Max Magnitude0
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 RCV000169687.3,