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rs104886103

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886103(A;A)
Make rs104886103(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108591135
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886103
ebirs104886103
HLIrs104886103
Exacrs104886103
Varsomers104886103
Maprs104886103
PheGenIrs104886103
hapmaprs104886103
1000 genomesrs104886103
hgdprs104886103
ensemblrs104886103
gopubmedrs104886103
geneviewrs104886103
scholarrs104886103
googlers104886103
pharmgkbrs104886103
gwascentralrs104886103
openSNPrs104886103
23andMers104886103
23andMe allrs104886103
SNP Nexus

SNPshotrs104886103
SNPdbers104886103
MSV3drs104886103
GWAS Ctlgrs104886103
Max Magnitude0
ClinVar
Risk rs104886103(A;A)
Alt rs104886103(A;A)
Reference rs104886103(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107834365G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021267.1,


OMIM301050
Desc
Variant
Relatedalso

[PMID 10862091] Spectrum of COL4A5 mutations in Finnish Alport syndrome patients.