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rs104886294

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886294(A;A)
Make rs104886294(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108692851
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886294
ebirs104886294
HLIrs104886294
Exacrs104886294
Varsomers104886294
Maprs104886294
PheGenIrs104886294
hapmaprs104886294
1000 genomesrs104886294
hgdprs104886294
ensemblrs104886294
gopubmedrs104886294
geneviewrs104886294
scholarrs104886294
googlers104886294
pharmgkbrs104886294
gwascentralrs104886294
openSNPrs104886294
23andMers104886294
23andMe allrs104886294
SNP Nexus

SNPshotrs104886294
SNPdbers104886294
MSV3drs104886294
GWAS Ctlgrs104886294
Max Magnitude0
ClinVar
Risk rs104886294(A;A)
Alt rs104886294(A;A)
Reference rs104886294(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107936081G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021631.1,


OMIM301050
Desc
Variant
Relatedalso
[PMID 8940267OA-icon.png] Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome.