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rs104886279

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886279(A;A)
Make rs104886279(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108687526
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886279
ebirs104886279
HLIrs104886279
Exacrs104886279
Varsomers104886279
Maprs104886279
PheGenIrs104886279
hapmaprs104886279
1000 genomesrs104886279
hgdprs104886279
ensemblrs104886279
gopubmedrs104886279
geneviewrs104886279
scholarrs104886279
googlers104886279
pharmgkbrs104886279
gwascentralrs104886279
openSNPrs104886279
23andMers104886279
23andMe allrs104886279
SNP Nexus

SNPshotrs104886279
SNPdbers104886279
MSV3drs104886279
GWAS Ctlgrs104886279
Max Magnitude0
ClinVar
Risk rs104886279(A;A)
Alt rs104886279(A;A)
Reference rs104886279(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107930756G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021613.1,


OMIM301050
Desc
Variant
Relatedalso

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