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rs104886318

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs104886318(-;-)
Make rs104886318(-;G)
Make rs104886318(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108591180
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886318
ebirs104886318
HLIrs104886318
Exacrs104886318
Varsomers104886318
Maprs104886318
PheGenIrs104886318
hapmaprs104886318
1000 genomesrs104886318
hgdprs104886318
ensemblrs104886318
gopubmedrs104886318
geneviewrs104886318
scholarrs104886318
googlers104886318
pharmgkbrs104886318
gwascentralrs104886318
openSNPrs104886318
23andMers104886318
23andMe allrs104886318
SNP Nexus

SNPshotrs104886318
SNPdbers104886318
MSV3drs104886318
GWAS Ctlgrs104886318
Max Magnitude0
ClinVar
Risk rs104886318(G;G)
Alt rs104886318(G;G)
Reference rs104886318(;)
Significance Probable-Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107834410dupG
CLNSRC
CLNACC


[PMID 15780079] Detection of mutations in the COL4A5 gene by analyzing cDNA of skin fibroblasts.