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rs104886113

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104886113(-;-)
Make rs104886113(-;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108591597
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886113
ebirs104886113
HLIrs104886113
Exacrs104886113
Varsomers104886113
Maprs104886113
PheGenIrs104886113
hapmaprs104886113
1000 genomesrs104886113
hgdprs104886113
ensemblrs104886113
gopubmedrs104886113
geneviewrs104886113
scholarrs104886113
googlers104886113
pharmgkbrs104886113
gwascentralrs104886113
openSNPrs104886113
23andMers104886113
23andMe allrs104886113
SNP Nexus

SNPshotrs104886113
SNPdbers104886113
MSV3drs104886113
GWAS Ctlgrs104886113
Max Magnitude0
ClinVar
Risk rs104886113(;)
Alt rs104886113(;)
Reference rs104886113(C;C)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107834827delC
CLNSRC ClinVar
CLNACC RCV000021283.1,


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

OMIM301050
Desc
Variant
Relatedalso