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rs104886098

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886098(A;A)
Make rs104886098(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108586721
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886098
ebirs104886098
HLIrs104886098
Exacrs104886098
Varsomers104886098
Maprs104886098
PheGenIrs104886098
hapmaprs104886098
1000 genomesrs104886098
hgdprs104886098
ensemblrs104886098
gopubmedrs104886098
geneviewrs104886098
scholarrs104886098
googlers104886098
pharmgkbrs104886098
gwascentralrs104886098
openSNPrs104886098
23andMers104886098
23andMe allrs104886098
SNP Nexus

SNPshotrs104886098
SNPdbers104886098
MSV3drs104886098
GWAS Ctlgrs104886098
Max Magnitude0
ClinVar
Risk rs104886098(A;A)
Alt rs104886098(A;A)
Reference rs104886098(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107829951G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021248.1,


[PMID 17660027] Genetic testing for X-linked Alport syndrome by direct sequencing of COL4A5 cDNA from hair root RNA samples.