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rs797044877

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797044877(A;A)
Make rs797044877(A;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position18940029
GenePHKA2
is asnp
is mentioned by
dbSNPrs797044877
dbSNP (classic)rs797044877
ClinGenrs797044877
ebirs797044877
HLIrs797044877
Exacrs797044877
Gnomadrs797044877
Varsomers797044877
LitVarrs797044877
Maprs797044877
PheGenIrs797044877
Biobankrs797044877
1000 genomesrs797044877
hgdprs797044877
ensemblrs797044877
geneviewrs797044877
scholarrs797044877
googlers797044877
pharmgkbrs797044877
gwascentralrs797044877
openSNPrs797044877
23andMers797044877
SNPshotrs797044877
SNPdbers797044877
MSV3drs797044877
GWAS Ctlgrs797044877
Max Magnitude0
ClinVar
Risk rs797044877(A;A)
Alt rs797044877(A;A)
Reference Rs797044877(G;G)
Significance Pathogenic
Disease Inborn genetic diseases
Variation info
Gene PHKA2
CLNDBN Inborn genetic diseases
Reversed 1
HGVS NC_000023.10:g.18958147C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000190690.1,