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rs104886431

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886431(A;A)
Make rs104886431(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108575909
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886431
ebirs104886431
HLIrs104886431
Exacrs104886431
Varsomers104886431
Maprs104886431
PheGenIrs104886431
hapmaprs104886431
1000 genomesrs104886431
hgdprs104886431
ensemblrs104886431
gopubmedrs104886431
geneviewrs104886431
scholarrs104886431
googlers104886431
pharmgkbrs104886431
gwascentralrs104886431
openSNPrs104886431
23andMers104886431
23andMe allrs104886431
SNP Nexus

SNPshotrs104886431
SNPdbers104886431
MSV3drs104886431
GWAS Ctlgrs104886431
Max Magnitude0
ClinVar
Risk rs104886431(A;A)
Alt rs104886431(A;A)
Reference rs104886431(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107819139G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021165.1,


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

OMIM301050
Desc
Variant
Relatedalso