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rs797044592

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GTTAGCTG;GTTAGCTG) 0 common in clinvar
Make rs797044592(ATC;ATC)
Make rs797044592(ATC;GTTAGCTG)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position44910133
GeneGFAP
is asnp
is mentioned by
dbSNPrs797044592
dbSNP (old)rs797044592
ClinGenrs797044592
ebirs797044592
HLIrs797044592
Exacrs797044592
Gnomadrs797044592
Varsomers797044592
Maprs797044592
PheGenIrs797044592
Biobankrs797044592
1000 genomesrs797044592
hgdprs797044592
ensemblrs797044592
gopubmedrs797044592
geneviewrs797044592
scholarrs797044592
googlers797044592
pharmgkbrs797044592
gwascentralrs797044592
openSNPrs797044592
23andMers797044592
23andMe allrs797044592
SNP Nexus

SNPshotrs797044592
SNPdbers797044592
MSV3drs797044592
GWAS Ctlgrs797044592
Max Magnitude0
ClinVar
Risk rs797044592(ATC;ATC)
Alt rs797044592(ATC;ATC)
Reference Rs797044592(GTTAGCTG;GTTAGCTG)
Significance Pathogenic
Disease Alexander's disease
Variation info
Gene GFAP
CLNDBN Alexander's disease
Reversed 1
HGVS NC_000017.10:g.42987501_42987508delCAGCTAACinsGAT
CLNSRC
CLNACC RCV000192189.1,