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rs104886235

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886235(A;A)
Make rs104886235(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108666522
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886235
ebirs104886235
HLIrs104886235
Exacrs104886235
Varsomers104886235
Maprs104886235
PheGenIrs104886235
hapmaprs104886235
1000 genomesrs104886235
hgdprs104886235
ensemblrs104886235
gopubmedrs104886235
geneviewrs104886235
scholarrs104886235
googlers104886235
pharmgkbrs104886235
gwascentralrs104886235
openSNPrs104886235
23andMers104886235
23andMe allrs104886235
SNP Nexus

SNPshotrs104886235
SNPdbers104886235
MSV3drs104886235
GWAS Ctlgrs104886235
Max Magnitude0
ClinVar
Risk rs104886235(A;A)
Alt rs104886235(A;A)
Reference rs104886235(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107909752G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021515.1,


[PMID 10094548] Detection of mutations in COL4A5 in patients with Alport syndrome.

OMIM301050
Desc
Variant
Relatedalso