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rs104886285

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886285(A;A)
Make rs104886285(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108692769
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886285
ebirs104886285
HLIrs104886285
Exacrs104886285
Varsomers104886285
Maprs104886285
PheGenIrs104886285
hapmaprs104886285
1000 genomesrs104886285
hgdprs104886285
ensemblrs104886285
gopubmedrs104886285
geneviewrs104886285
scholarrs104886285
googlers104886285
pharmgkbrs104886285
gwascentralrs104886285
openSNPrs104886285
23andMers104886285
23andMe allrs104886285
SNP Nexus

SNPshotrs104886285
SNPdbers104886285
MSV3drs104886285
GWAS Ctlgrs104886285
Max Magnitude0
ClinVar
Risk rs104886285(A;A)
Alt rs104886285(A;A)
Reference rs104886285(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107935999G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021627.1,


[PMID 10684360] Mutational analysis of COL4A5 gene in Korean Alport syndrome.

OMIM301050
Desc
Variant
Relatedalso