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rs104886329

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886329(A;A)
Make rs104886329(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108595508
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886329
ebirs104886329
HLIrs104886329
Exacrs104886329
Varsomers104886329
Maprs104886329
PheGenIrs104886329
hapmaprs104886329
1000 genomesrs104886329
hgdprs104886329
ensemblrs104886329
gopubmedrs104886329
geneviewrs104886329
scholarrs104886329
googlers104886329
pharmgkbrs104886329
gwascentralrs104886329
openSNPrs104886329
23andMers104886329
23andMe allrs104886329
SNP Nexus

SNPshotrs104886329
SNPdbers104886329
MSV3drs104886329
GWAS Ctlgrs104886329
Max Magnitude0
ClinVar
Risk rs104886329(A;A)
Alt rs104886329(A;A)
Reference rs104886329(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107838738G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021292.1,


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

OMIM301050
Desc
Variant
Relatedalso