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rs797044584

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797044584(-;CACTTG)
Make rs797044584(CACTTG;CACTTG)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position44911315
GeneGFAP
is asnp
is mentioned by
dbSNPrs797044584
dbSNP (old)rs797044584
ClinGenrs797044584
ebirs797044584
HLIrs797044584
Exacrs797044584
Gnomadrs797044584
Varsomers797044584
Maprs797044584
PheGenIrs797044584
Biobankrs797044584
1000 genomesrs797044584
hgdprs797044584
ensemblrs797044584
gopubmedrs797044584
geneviewrs797044584
scholarrs797044584
googlers797044584
pharmgkbrs797044584
gwascentralrs797044584
openSNPrs797044584
23andMers797044584
23andMe allrs797044584
SNP Nexus

SNPshotrs797044584
SNPdbers797044584
MSV3drs797044584
GWAS Ctlgrs797044584
Max Magnitude0
ClinVar
Risk rs797044584(CTTGCA;CTTGCA)
Alt rs797044584(CTTGCA;CTTGCA)
Reference Rs797044584(-;-)
Significance Pathogenic
Disease Alexander's disease
Variation info
Gene GFAP
CLNDBN Alexander's disease
Reversed 1
HGVS NC_000017.10:g.42988683_42988684insCAAGTG
CLNSRC
CLNACC RCV000192155.1,