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rs281865426

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GG;GG) 0 common in clinvar
Make rs281865426(GG;TT)
Make rs281865426(TT;TT)
ReferenceGRCh38 38.1/141
Chromosome13
Position110187292
GeneCOL4A1
is asnp
is mentioned by
dbSNPrs281865426
ebirs281865426
HLIrs281865426
Exacrs281865426
Varsomers281865426
Maprs281865426
PheGenIrs281865426
hapmaprs281865426
1000 genomesrs281865426
hgdprs281865426
ensemblrs281865426
gopubmedrs281865426
geneviewrs281865426
scholarrs281865426
googlers281865426
pharmgkbrs281865426
gwascentralrs281865426
openSNPrs281865426
23andMers281865426
23andMe allrs281865426
SNP Nexus

SNPshotrs281865426
SNPdbers281865426
MSV3drs281865426
GWAS Ctlgrs281865426
Max Magnitude0
ClinVar
Risk rs281865426(TT;TT)
Alt rs281865426(TT;TT)
Reference rs281865426(GG;GG)
Significance Pathogenic
Disease Angiopathy
Variation info
Gene COL4A1
CLNDBN Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps
Reversed 1
HGVS NC_000013.10:g.110839639_110839640delCCinsAA
CLNSRC OMIM Allelic Variant
CLNACC RCV000018968.28,