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rs104886069

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886069(C;C)
Make rs104886069(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108580542
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886069
ebirs104886069
HLIrs104886069
Exacrs104886069
Varsomers104886069
Maprs104886069
PheGenIrs104886069
hapmaprs104886069
1000 genomesrs104886069
hgdprs104886069
ensemblrs104886069
gopubmedrs104886069
geneviewrs104886069
scholarrs104886069
googlers104886069
pharmgkbrs104886069
gwascentralrs104886069
openSNPrs104886069
23andMers104886069
23andMe allrs104886069
SNP Nexus

SNPshotrs104886069
SNPdbers104886069
MSV3drs104886069
GWAS Ctlgrs104886069
Max Magnitude0
ClinVar
Risk rs104886069(C;C)
Alt rs104886069(C;C)
Reference rs104886069(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107823772G>C
CLNSRC ARUP COL4A5
CLNACC RCV000021201.1,


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

OMIM301050
Desc
Variant
Relatedalso