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rs104886293

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886293(A;A)
Make rs104886293(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108692850
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886293
ebirs104886293
HLIrs104886293
Exacrs104886293
Varsomers104886293
Maprs104886293
PheGenIrs104886293
hapmaprs104886293
1000 genomesrs104886293
hgdprs104886293
ensemblrs104886293
gopubmedrs104886293
geneviewrs104886293
scholarrs104886293
googlers104886293
pharmgkbrs104886293
gwascentralrs104886293
openSNPrs104886293
23andMers104886293
23andMe allrs104886293
SNP Nexus

SNPshotrs104886293
SNPdbers104886293
MSV3drs104886293
GWAS Ctlgrs104886293
Max Magnitude0
ClinVar
Risk rs104886293(A,C;A,C)
Alt rs104886293(A,C;A,C)
Reference rs104886293(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107936080G>C
CLNSRC ARUP COL4A5 OMIM Allelic Variant
CLNACC RCV000021630.4,


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