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rs28932769

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0
(T;T) 0 common in clinvar
Make rs28932769(C;C)
Make rs28932769(C;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position44911308
GeneGFAP
is asnp
is mentioned by
dbSNPrs28932769
ebirs28932769
HLIrs28932769
Exacrs28932769
Varsomers28932769
Maprs28932769
PheGenIrs28932769
hapmaprs28932769
1000 genomesrs28932769
hgdprs28932769
ensemblrs28932769
gopubmedrs28932769
geneviewrs28932769
scholarrs28932769
googlers28932769
pharmgkbrs28932769
gwascentralrs28932769
openSNPrs28932769
23andMers28932769
23andMe allrs28932769
SNP Nexus

SNPshotrs28932769
SNPdbers28932769
MSV3drs28932769
GWAS Ctlgrs28932769
Max Magnitude0
OMIM137780
DescALEXANDER DISEASE
Variant0012
Relatedalso
Neighborrs28932768
Distance31
Neighborrs28933071
Distance443


ClinVar
Risk rs28932769(C;C)
Alt rs28932769(C;C)
Reference rs28932769(T;T)
Significance Pathogenic
Disease Alexander's disease not provided
Variation info
Gene GFAP
CLNDBN Alexander's disease not provided
Reversed 1
HGVS NC_000017.10:g.42988676A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000017561.29, RCV000056820.1,