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rs267607501

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AAGG;AAGG) 0 common in clinvar
Make rs267607501(AAGG;GAGT)
Make rs267607501(GAGT;GAGT)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position44915228
GeneGFAP
is asnp
is mentioned by
dbSNPrs267607501
dbSNP (old)rs267607501
ClinGenrs267607501
ebirs267607501
HLIrs267607501
Exacrs267607501
Gnomadrs267607501
Varsomers267607501
Maprs267607501
PheGenIrs267607501
Biobankrs267607501
1000 genomesrs267607501
hgdprs267607501
ensemblrs267607501
gopubmedrs267607501
geneviewrs267607501
scholarrs267607501
googlers267607501
pharmgkbrs267607501
gwascentralrs267607501
openSNPrs267607501
23andMers267607501
23andMe allrs267607501
SNP Nexus

SNPshotrs267607501
SNPdbers267607501
MSV3drs267607501
GWAS Ctlgrs267607501
Max Magnitude0
ClinVar
Risk rs267607501(GAGT;GAGT)
Alt rs267607501(GAGT;GAGT)
Reference Rs267607501(AAGG;AAGG)
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.42992596_42992599delCCTTinsACTC
CLNSRC
CLNACC RCV000056874.1, RCV000192116.1,