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rs267607500

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267607500(A;A)
Make rs267607500(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position44913430
GeneGFAP
is asnp
is mentioned by
dbSNPrs267607500
dbSNP (classic)rs267607500
ClinGenrs267607500
ebirs267607500
HLIrs267607500
Exacrs267607500
Gnomadrs267607500
Varsomers267607500
LitVarrs267607500
Maprs267607500
PheGenIrs267607500
Biobankrs267607500
1000 genomesrs267607500
hgdprs267607500
ensemblrs267607500
geneviewrs267607500
scholarrs267607500
googlers267607500
pharmgkbrs267607500
gwascentralrs267607500
openSNPrs267607500
23andMers267607500
SNPshotrs267607500
SNPdbers267607500
MSV3drs267607500
GWAS Ctlgrs267607500
Max Magnitude0
ClinVar
Risk rs267607500(A;A) rs267607500(C;C)
Alt rs267607500(A;A) rs267607500(C;C)
Reference Rs267607500(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.42990798C>G; NC_000017.10:g.42990798C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000056893.1, RCV000192129.1, RCV000056892.1, RCV000192128.1,