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rs1057518685

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057518685(A;G)
Make rs1057518685(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position44915272
GeneGFAP
is asnp
is mentioned by
dbSNPrs1057518685
dbSNP (old)rs1057518685
ClinGenrs1057518685
ebirs1057518685
HLIrs1057518685
Exacrs1057518685
Gnomadrs1057518685
Varsomers1057518685
Maprs1057518685
PheGenIrs1057518685
Biobankrs1057518685
1000 genomesrs1057518685
hgdprs1057518685
ensemblrs1057518685
gopubmedrs1057518685
geneviewrs1057518685
scholarrs1057518685
googlers1057518685
pharmgkbrs1057518685
gwascentralrs1057518685
openSNPrs1057518685
23andMers1057518685
23andMe allrs1057518685
SNPshotrs1057518685
SNPdbers1057518685
MSV3drs1057518685
GWAS Ctlgrs1057518685
Max Magnitude0
ClinVar
Risk rs1057518685(G;G)
Alt rs1057518685(G;G)
Reference Rs1057518685(A;A)
Significance Probable-Pathogenic
Disease Alexander's disease
Variation info
Gene GFAP
CLNDBN Alexander's disease
Reversed 1
HGVS NC_000017.10:g.42992640T>C
CLNSRC
CLNACC RCV000414950.1,