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rs797044576

From SNPedia

Orientationminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797044576(-;GCGGCT)
Make rs797044576(GCGGCT;GCGGCT)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position44915106
GeneGFAP
is asnp
is mentioned by
dbSNPrs797044576
ClinGenrs797044576
ebirs797044576
HLIrs797044576
Exacrs797044576
Varsomers797044576
Maprs797044576
PheGenIrs797044576
hapmaprs797044576
1000 genomesrs797044576
hgdprs797044576
ensemblrs797044576
gopubmedrs797044576
geneviewrs797044576
scholarrs797044576
googlers797044576
pharmgkbrs797044576
gwascentralrs797044576
openSNPrs797044576
23andMers797044576
23andMe allrs797044576
SNP Nexus

SNPshotrs797044576
SNPdbers797044576
MSV3drs797044576
GWAS Ctlgrs797044576
Max Magnitude0
ClinVar
Risk rs797044576(GCGGCT;GCGGCT)
Alt rs797044576(GCGGCT;GCGGCT)
Reference Rs797044576(;)
Significance Pathogenic
Disease Alexander's disease
Variation info
Gene GFAP
CLNDBN Alexander's disease
Reversed 1
HGVS NC_000017.10:g.42992475_42992480dupAGCCGC
CLNSRC
CLNACC RCV000192125.1,