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rs104886058

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104886058(-;-)
Make rs104886058(-;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108573641
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886058
ebirs104886058
HLIrs104886058
Exacrs104886058
Varsomers104886058
Maprs104886058
PheGenIrs104886058
hapmaprs104886058
1000 genomesrs104886058
hgdprs104886058
ensemblrs104886058
gopubmedrs104886058
geneviewrs104886058
scholarrs104886058
googlers104886058
pharmgkbrs104886058
gwascentralrs104886058
openSNPrs104886058
23andMers104886058
23andMe allrs104886058
SNP Nexus

SNPshotrs104886058
SNPdbers104886058
MSV3drs104886058
GWAS Ctlgrs104886058
Max Magnitude0
ClinVar
Risk rs104886058(;)
Alt rs104886058(;)
Reference rs104886058(C;C)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107816871delC
CLNSRC ClinVar
CLNACC RCV000021159.1,


[PMID 8940267OA-icon.png] Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome.

OMIM301050
Desc
Variant
Relatedalso