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rs104886280

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886280(A;A)
Make rs104886280(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108687535
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886280
ebirs104886280
HLIrs104886280
Exacrs104886280
Varsomers104886280
Maprs104886280
PheGenIrs104886280
hapmaprs104886280
1000 genomesrs104886280
hgdprs104886280
ensemblrs104886280
gopubmedrs104886280
geneviewrs104886280
scholarrs104886280
googlers104886280
pharmgkbrs104886280
gwascentralrs104886280
openSNPrs104886280
23andMers104886280
23andMe allrs104886280
SNP Nexus

SNPshotrs104886280
SNPdbers104886280
MSV3drs104886280
GWAS Ctlgrs104886280
Max Magnitude0
ClinVar
Risk rs104886280(A;A)
Alt rs104886280(A;A)
Reference rs104886280(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107930765G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021610.1,


[PMID 9195222] The clinical spectrum of type IV collagen mutations.

OMIM301050
Desc
Variant
Relatedalso