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rs104886284

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104886284(A;A)
Make rs104886284(A;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108687677
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886284
ebirs104886284
HLIrs104886284
Exacrs104886284
Varsomers104886284
Maprs104886284
PheGenIrs104886284
hapmaprs104886284
1000 genomesrs104886284
hgdprs104886284
ensemblrs104886284
gopubmedrs104886284
geneviewrs104886284
scholarrs104886284
googlers104886284
pharmgkbrs104886284
gwascentralrs104886284
openSNPrs104886284
23andMers104886284
23andMe allrs104886284
SNP Nexus

SNPshotrs104886284
SNPdbers104886284
MSV3drs104886284
GWAS Ctlgrs104886284
Max Magnitude0
ClinVar
Risk rs104886284(A;A)
Alt rs104886284(A;A)
Reference rs104886284(C;C)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107930907C>A
CLNSRC ARUP COL4A5
CLNACC RCV000021621.1,


OMIM301050
Desc
Variant
Relatedalso

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