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rs267607520

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs267607520(A;C)
Make rs267607520(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position44908071
GeneGFAP
is asnp
is mentioned by
dbSNPrs267607520
dbSNP (classic)rs267607520
ClinGenrs267607520
ebirs267607520
HLIrs267607520
Exacrs267607520
Gnomadrs267607520
Varsomers267607520
LitVarrs267607520
Maprs267607520
PheGenIrs267607520
Biobankrs267607520
1000 genomesrs267607520
hgdprs267607520
ensemblrs267607520
geneviewrs267607520
scholarrs267607520
googlers267607520
pharmgkbrs267607520
gwascentralrs267607520
openSNPrs267607520
23andMers267607520
SNPshotrs267607520
SNPdbers267607520
MSV3drs267607520
GWAS Ctlgrs267607520
Max Magnitude0
ClinVar
Risk rs267607520(C;C)
Alt rs267607520(C;C)
Reference Rs267607520(A;A)
Significance Pathogenic
Disease not provided Alexander's disease
Variation info
Gene GFAP
CLNDBN not provided Alexander's disease
Reversed 1
HGVS NC_000017.10:g.42985439T>G
CLNSRC
CLNACC RCV000056849.1, RCV000192186.1,