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rs104886429

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886429(A;A)
Make rs104886429(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108573655
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886429
ebirs104886429
HLIrs104886429
Exacrs104886429
Varsomers104886429
Maprs104886429
PheGenIrs104886429
hapmaprs104886429
1000 genomesrs104886429
hgdprs104886429
ensemblrs104886429
gopubmedrs104886429
geneviewrs104886429
scholarrs104886429
googlers104886429
pharmgkbrs104886429
gwascentralrs104886429
openSNPrs104886429
23andMers104886429
23andMe allrs104886429
SNP Nexus

SNPshotrs104886429
SNPdbers104886429
MSV3drs104886429
GWAS Ctlgrs104886429
Max Magnitude0
ClinVar
Risk rs104886429(A;A)
Alt rs104886429(A;A)
Reference rs104886429(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107816885G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021162.1,


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

OMIM301050
Desc
Variant
Relatedalso