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rs104886452

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886452(C;C)
Make rs104886452(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108580982
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886452
ebirs104886452
HLIrs104886452
Exacrs104886452
Varsomers104886452
Maprs104886452
PheGenIrs104886452
hapmaprs104886452
1000 genomesrs104886452
hgdprs104886452
ensemblrs104886452
gopubmedrs104886452
geneviewrs104886452
scholarrs104886452
googlers104886452
pharmgkbrs104886452
gwascentralrs104886452
openSNPrs104886452
23andMers104886452
23andMe allrs104886452
SNP Nexus

SNPshotrs104886452
SNPdbers104886452
MSV3drs104886452
GWAS Ctlgrs104886452
Max Magnitude0
ClinVar
Risk rs104886452(C;C)
Alt rs104886452(C;C)
Reference rs104886452(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107824212G>C
CLNSRC ARUP COL4A5
CLNACC RCV000021217.1,


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

OMIM301050
Desc
Variant
Relatedalso