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rs104886145

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886145(A;A)
Make rs104886145(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108598817
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886145
ebirs104886145
HLIrs104886145
Exacrs104886145
Varsomers104886145
Maprs104886145
PheGenIrs104886145
hapmaprs104886145
1000 genomesrs104886145
hgdprs104886145
ensemblrs104886145
gopubmedrs104886145
geneviewrs104886145
scholarrs104886145
googlers104886145
pharmgkbrs104886145
gwascentralrs104886145
openSNPrs104886145
23andMers104886145
23andMe allrs104886145
SNP Nexus

SNPshotrs104886145
SNPdbers104886145
MSV3drs104886145
GWAS Ctlgrs104886145
Max Magnitude0
ClinVar
Risk rs104886145(A;A)
Alt rs104886145(A;A)
Reference rs104886145(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107842047G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021337.1,


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

OMIM301050
Desc
Variant
Relatedalso