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rs104886298

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104886298(A;G)
Make rs104886298(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108694908
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886298
ebirs104886298
HLIrs104886298
Exacrs104886298
Varsomers104886298
Maprs104886298
PheGenIrs104886298
hapmaprs104886298
1000 genomesrs104886298
hgdprs104886298
ensemblrs104886298
gopubmedrs104886298
geneviewrs104886298
scholarrs104886298
googlers104886298
pharmgkbrs104886298
gwascentralrs104886298
openSNPrs104886298
23andMers104886298
23andMe allrs104886298
SNP Nexus

SNPshotrs104886298
SNPdbers104886298
MSV3drs104886298
GWAS Ctlgrs104886298
Max Magnitude0
ClinVar
Risk rs104886298(G;G)
Alt rs104886298(G;G)
Reference Rs104886298(A;A)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107938138A>G
CLNSRC ARUP COL4A5
CLNACC RCV000021650.1,


OMIM301050
Desc
Variant
Relatedalso
[PMID 12105244] Meta-analysis of genotype-phenotype correlation in X-linked Alport syndrome: impact on clinical counselling.