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rs104886296

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104886296(G;G)
Make rs104886296(G;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108694886
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886296
ebirs104886296
HLIrs104886296
Exacrs104886296
Varsomers104886296
Maprs104886296
PheGenIrs104886296
hapmaprs104886296
1000 genomesrs104886296
hgdprs104886296
ensemblrs104886296
gopubmedrs104886296
geneviewrs104886296
scholarrs104886296
googlers104886296
pharmgkbrs104886296
gwascentralrs104886296
openSNPrs104886296
23andMers104886296
23andMe allrs104886296
SNP Nexus

SNPshotrs104886296
SNPdbers104886296
MSV3drs104886296
GWAS Ctlgrs104886296
Max Magnitude0
ClinVar
Risk rs104886296(G;G)
Alt rs104886296(G;G)
Reference rs104886296(T;T)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107938116T>G
CLNSRC ARUP COL4A5
CLNACC RCV000021648.1,


OMIM301050
Desc
Variant
Relatedalso

[PMID 16941480] A two-tier approach to mutation detection in the COL4A5 gene for Alport syndrome.