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rs797044569

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797044569(A;A)
Make rs797044569(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position44915290
GeneGFAP
is asnp
is mentioned by
dbSNPrs797044569
dbSNP (classic)rs797044569
ClinGenrs797044569
ebirs797044569
HLIrs797044569
Exacrs797044569
Gnomadrs797044569
Varsomers797044569
LitVarrs797044569
Maprs797044569
PheGenIrs797044569
Biobankrs797044569
1000 genomesrs797044569
hgdprs797044569
ensemblrs797044569
geneviewrs797044569
scholarrs797044569
googlers797044569
pharmgkbrs797044569
gwascentralrs797044569
openSNPrs797044569
23andMers797044569
SNPshotrs797044569
SNPdbers797044569
MSV3drs797044569
GWAS Ctlgrs797044569
Max Magnitude0
ClinVar
Risk rs797044569(A;A) rs797044569(C;C)
Alt rs797044569(A;A) rs797044569(C;C)
Reference Rs797044569(G;G)
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.42992658C>G; NC_000017.10:g.42992658C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000413147.1, RCV000192097.1,