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rs104886451

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886451(A;A)
Make rs104886451(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108580739
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886451
ebirs104886451
HLIrs104886451
Exacrs104886451
Varsomers104886451
Maprs104886451
PheGenIrs104886451
hapmaprs104886451
1000 genomesrs104886451
hgdprs104886451
ensemblrs104886451
gopubmedrs104886451
geneviewrs104886451
scholarrs104886451
googlers104886451
pharmgkbrs104886451
gwascentralrs104886451
openSNPrs104886451
23andMers104886451
23andMe allrs104886451
SNP Nexus

SNPshotrs104886451
SNPdbers104886451
MSV3drs104886451
GWAS Ctlgrs104886451
Max Magnitude0
ClinVar
Risk rs104886451(A;A)
Alt rs104886451(A;A)
Reference rs104886451(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107823969G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021215.1,


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

OMIM301050
Desc
Variant
Relatedalso