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rs1057518828

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057518828(A;C)
Make rs1057518828(C;C)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position44911317
GeneGFAP
is asnp
is mentioned by
dbSNPrs1057518828
dbSNP (classic)rs1057518828
ClinGenrs1057518828
ebirs1057518828
HLIrs1057518828
Exacrs1057518828
Gnomadrs1057518828
Varsomers1057518828
LitVarrs1057518828
Maprs1057518828
PheGenIrs1057518828
Biobankrs1057518828
1000 genomesrs1057518828
hgdprs1057518828
ensemblrs1057518828
geneviewrs1057518828
scholarrs1057518828
googlers1057518828
pharmgkbrs1057518828
gwascentralrs1057518828
openSNPrs1057518828
23andMers1057518828
SNPshotrs1057518828
SNPdbers1057518828
MSV3drs1057518828
GWAS Ctlgrs1057518828
Max Magnitude0
ClinVar
Risk rs1057518828(C;C)
Alt rs1057518828(C;C)
Reference Rs1057518828(A;A)
Significance Probable-Pathogenic
Disease Scoliosis
Variation info
Gene GFAP
CLNDBN Scoliosis
Reversed 1
HGVS NC_000017.10:g.42988685T>G
CLNSRC
CLNACC RCV000415341.1,