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rs797044575

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797044575(-;AGCTGCGGC)
Make rs797044575(AGCTGCGGC;AGCTGCGGC)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position44915113
GeneGFAP
is asnp
is mentioned by
dbSNPrs797044575
dbSNP (old)rs797044575
ClinGenrs797044575
ebirs797044575
HLIrs797044575
Exacrs797044575
Varsomers797044575
Maprs797044575
PheGenIrs797044575
Biobankrs797044575
1000 genomesrs797044575
hgdprs797044575
ensemblrs797044575
gopubmedrs797044575
geneviewrs797044575
scholarrs797044575
googlers797044575
pharmgkbrs797044575
gwascentralrs797044575
openSNPrs797044575
23andMers797044575
23andMe allrs797044575
SNP Nexus

SNPshotrs797044575
SNPdbers797044575
MSV3drs797044575
GWAS Ctlgrs797044575
Max Magnitude0
ClinVar
Risk rs797044575(AGCTGCGGC;AGCTGCGGC)
Alt rs797044575(AGCTGCGGC;AGCTGCGGC)
Reference Rs797044575(-;-)
Significance Pathogenic
Disease Alexander's disease
Variation info
Gene GFAP
CLNDBN Alexander's disease
Reversed 1
HGVS NC_000017.10:g.42992482_42992490dupGCCGCAGCT
CLNSRC
CLNACC RCV000192124.1,