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rs104886233

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104886233(A;T)
Make rs104886233(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108655373
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886233
ebirs104886233
HLIrs104886233
Exacrs104886233
Varsomers104886233
Maprs104886233
PheGenIrs104886233
hapmaprs104886233
1000 genomesrs104886233
hgdprs104886233
ensemblrs104886233
gopubmedrs104886233
geneviewrs104886233
scholarrs104886233
googlers104886233
pharmgkbrs104886233
gwascentralrs104886233
openSNPrs104886233
23andMers104886233
23andMe allrs104886233
SNP Nexus

SNPshotrs104886233
SNPdbers104886233
MSV3drs104886233
GWAS Ctlgrs104886233
Max Magnitude0
ClinVar
Risk rs104886233(T;T)
Alt rs104886233(T;T)
Reference rs104886233(A;A)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107898603A>T
CLNSRC ARUP COL4A5
CLNACC RCV000021494.1,


[PMID 9848783] High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA sequencing.

OMIM301050
Desc
Variant
Relatedalso