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rs104886135

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886135(C;C)
Make rs104886135(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108598747
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886135
ebirs104886135
HLIrs104886135
Exacrs104886135
Varsomers104886135
Maprs104886135
PheGenIrs104886135
hapmaprs104886135
1000 genomesrs104886135
hgdprs104886135
ensemblrs104886135
gopubmedrs104886135
geneviewrs104886135
scholarrs104886135
googlers104886135
pharmgkbrs104886135
gwascentralrs104886135
openSNPrs104886135
23andMers104886135
23andMe allrs104886135
SNP Nexus

SNPshotrs104886135
SNPdbers104886135
MSV3drs104886135
GWAS Ctlgrs104886135
Max Magnitude0
ClinVar
Risk rs104886135(C;C)
Alt rs104886135(C;C)
Reference rs104886135(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107841977G>C
CLNSRC ARUP COL4A5
CLNACC RCV000021330.1,


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

OMIM301050
Desc
Variant
Relatedalso