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rs104886177

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886177(A;A)
Make rs104886177(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108606883
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886177
ebirs104886177
HLIrs104886177
Exacrs104886177
Varsomers104886177
Maprs104886177
PheGenIrs104886177
hapmaprs104886177
1000 genomesrs104886177
hgdprs104886177
ensemblrs104886177
gopubmedrs104886177
geneviewrs104886177
scholarrs104886177
googlers104886177
pharmgkbrs104886177
gwascentralrs104886177
openSNPrs104886177
23andMers104886177
23andMe allrs104886177
SNP Nexus

SNPshotrs104886177
SNPdbers104886177
MSV3drs104886177
GWAS Ctlgrs104886177
Max Magnitude0
ClinVar
Risk rs104886177(A;A)
Alt rs104886177(A;A)
Reference rs104886177(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107850113G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021392.1,


[PMID 10094548] Detection of mutations in COL4A5 in patients with Alport syndrome.

OMIM301050
Desc
Variant
Relatedalso