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rs104886128

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104886128(-;-)
Make rs104886128(-;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108597442
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886128
ebirs104886128
HLIrs104886128
Exacrs104886128
Varsomers104886128
Maprs104886128
PheGenIrs104886128
hapmaprs104886128
1000 genomesrs104886128
hgdprs104886128
ensemblrs104886128
gopubmedrs104886128
geneviewrs104886128
scholarrs104886128
googlers104886128
pharmgkbrs104886128
gwascentralrs104886128
openSNPrs104886128
23andMers104886128
23andMe allrs104886128
SNP Nexus

SNPshotrs104886128
SNPdbers104886128
MSV3drs104886128
GWAS Ctlgrs104886128
Max Magnitude0
ClinVar
Risk rs104886128(;)
Alt rs104886128(;)
Reference rs104886128(C;C)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107840672delC
CLNSRC ClinVar
CLNACC RCV000021312.1,


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

OMIM301050
Desc
Variant
Relatedalso