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rs104886140

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886140(G;T)
Make rs104886140(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108598748
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886140
ebirs104886140
HLIrs104886140
Exacrs104886140
Varsomers104886140
Maprs104886140
PheGenIrs104886140
hapmaprs104886140
1000 genomesrs104886140
hgdprs104886140
ensemblrs104886140
gopubmedrs104886140
geneviewrs104886140
scholarrs104886140
googlers104886140
pharmgkbrs104886140
gwascentralrs104886140
openSNPrs104886140
23andMers104886140
23andMe allrs104886140
SNP Nexus

SNPshotrs104886140
SNPdbers104886140
MSV3drs104886140
GWAS Ctlgrs104886140
Max Magnitude0
ClinVar
Risk rs104886140(T;T)
Alt rs104886140(T;T)
Reference rs104886140(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107841978G>T
CLNSRC ARUP COL4A5
CLNACC RCV000021331.1,


[PMID 9195222] The clinical spectrum of type IV collagen mutations.