Have questions? Visit https://www.reddit.com/r/SNPedia

rs104894036

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894036(C;C)
Make rs104894036(C;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position56019720
GenePSPH
is asnp
is mentioned by
dbSNPrs104894036
ebirs104894036
HLIrs104894036
Exacrs104894036
Varsomers104894036
Maprs104894036
PheGenIrs104894036
hapmaprs104894036
1000 genomesrs104894036
hgdprs104894036
ensemblrs104894036
gopubmedrs104894036
geneviewrs104894036
scholarrs104894036
googlers104894036
pharmgkbrs104894036
gwascentralrs104894036
openSNPrs104894036
23andMers104894036
23andMe allrs104894036
SNP Nexus

SNPshotrs104894036
SNPdbers104894036
MSV3drs104894036
GWAS Ctlgrs104894036
Max Magnitude0
OMIM172480
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104894036(C;C)
Alt rs104894036(C;C)
Reference rs104894036(T;T)
Significance Pathogenic
Disease Deficiency of phosphoserine phosphatase
Variation info
Gene PSPH
CLNDBN Deficiency of phosphoserine phosphatase
Reversed 1
HGVS NC_000007.13:g.56087413A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000014594.21,