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rs104886339

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886339(A;A)
Make rs104886339(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108598871
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886339
ebirs104886339
HLIrs104886339
Exacrs104886339
Varsomers104886339
Maprs104886339
PheGenIrs104886339
hapmaprs104886339
1000 genomesrs104886339
hgdprs104886339
ensemblrs104886339
gopubmedrs104886339
geneviewrs104886339
scholarrs104886339
googlers104886339
pharmgkbrs104886339
gwascentralrs104886339
openSNPrs104886339
23andMers104886339
23andMe allrs104886339
SNP Nexus

SNPshotrs104886339
SNPdbers104886339
MSV3drs104886339
GWAS Ctlgrs104886339
Max Magnitude0
ClinVar
Risk rs104886339(A;A)
Alt rs104886339(A;A)
Reference rs104886339(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107842101G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021343.1,


[PMID 15780079] Detection of mutations in the COL4A5 gene by analyzing cDNA of skin fibroblasts.

OMIM301050
Desc
Variant
Relatedalso