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rs104886434

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886434(A;A)
Make rs104886434(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108575973
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886434
ebirs104886434
HLIrs104886434
Exacrs104886434
Varsomers104886434
Maprs104886434
PheGenIrs104886434
hapmaprs104886434
1000 genomesrs104886434
hgdprs104886434
ensemblrs104886434
gopubmedrs104886434
geneviewrs104886434
scholarrs104886434
googlers104886434
pharmgkbrs104886434
gwascentralrs104886434
openSNPrs104886434
23andMers104886434
23andMe allrs104886434
SNP Nexus

SNPshotrs104886434
SNPdbers104886434
MSV3drs104886434
GWAS Ctlgrs104886434
Max Magnitude0
ClinVar
Risk rs104886434(A;A)
Alt rs104886434(A;A)
Reference rs104886434(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107819203G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021173.1,


[PMID 11462238] Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome.

OMIM301050
Desc
Variant
Relatedalso