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rs104886351

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs104886351(-;-)
Make rs104886351(-;A)
Make rs104886351(A;A)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108606819
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886351
ebirs104886351
HLIrs104886351
Exacrs104886351
Varsomers104886351
Maprs104886351
PheGenIrs104886351
hapmaprs104886351
1000 genomesrs104886351
hgdprs104886351
ensemblrs104886351
gopubmedrs104886351
geneviewrs104886351
scholarrs104886351
googlers104886351
pharmgkbrs104886351
gwascentralrs104886351
openSNPrs104886351
23andMers104886351
23andMe allrs104886351
SNP Nexus

SNPshotrs104886351
SNPdbers104886351
MSV3drs104886351
GWAS Ctlgrs104886351
Max Magnitude0
ClinVar
Risk rs104886351(A;A)
Alt rs104886351(A;A)
Reference rs104886351(;)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107850049dupA
CLNSRC ClinVar
CLNACC RCV000021387.1,


[PMID 11462238] Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome.