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rs104886105

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886105(A;A)
Make rs104886105(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108586730
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886105
ebirs104886105
HLIrs104886105
Exacrs104886105
Varsomers104886105
Maprs104886105
PheGenIrs104886105
hapmaprs104886105
1000 genomesrs104886105
hgdprs104886105
ensemblrs104886105
gopubmedrs104886105
geneviewrs104886105
scholarrs104886105
googlers104886105
pharmgkbrs104886105
gwascentralrs104886105
openSNPrs104886105
23andMers104886105
23andMe allrs104886105
SNP Nexus

SNPshotrs104886105
SNPdbers104886105
MSV3drs104886105
GWAS Ctlgrs104886105
Max Magnitude0
ClinVar
Risk rs104886105(A;A)
Alt rs104886105(A;A)
Reference rs104886105(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107829960G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021249.1,


OMIM301050
Desc
Variant
Relatedalso

[PMID 8648925] The COL4A5 gene in Japanese Alport syndrome patients: spectrum of mutations of all exons. The Japanese Alport Network.