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rs104886076

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886076(C;C)
Make rs104886076(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108578291
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886076
ebirs104886076
HLIrs104886076
Exacrs104886076
Varsomers104886076
Maprs104886076
PheGenIrs104886076
hapmaprs104886076
1000 genomesrs104886076
hgdprs104886076
ensemblrs104886076
gopubmedrs104886076
geneviewrs104886076
scholarrs104886076
googlers104886076
pharmgkbrs104886076
gwascentralrs104886076
openSNPrs104886076
23andMers104886076
23andMe allrs104886076
SNP Nexus

SNPshotrs104886076
SNPdbers104886076
MSV3drs104886076
GWAS Ctlgrs104886076
Max Magnitude0
ClinVar
Risk rs104886076(C;C)
Alt rs104886076(C;C)
Reference rs104886076(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107821521G>C
CLNSRC ARUP COL4A5
CLNACC RCV000021192.1,


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

OMIM301050
Desc
Variant
Relatedalso