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rs104894035

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894035(A;A)
Make rs104894035(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position56021119
GenePSPH
is asnp
is mentioned by
dbSNPrs104894035
ebirs104894035
HLIrs104894035
Exacrs104894035
Varsomers104894035
Maprs104894035
PheGenIrs104894035
hapmaprs104894035
1000 genomesrs104894035
hgdprs104894035
ensemblrs104894035
gopubmedrs104894035
geneviewrs104894035
scholarrs104894035
googlers104894035
pharmgkbrs104894035
gwascentralrs104894035
openSNPrs104894035
23andMers104894035
23andMe allrs104894035
SNP Nexus

SNPshotrs104894035
SNPdbers104894035
MSV3drs104894035
GWAS Ctlgrs104894035
Merged fromRs28933976
Max Magnitude0
OMIM172480
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894035(A;A)
Alt rs104894035(A;A)
Reference rs104894035(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.56088812C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014593.26,