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rs104886433

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs104886433(-;-)
Make rs104886433(-;C)
Make rs104886433(C;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108575913
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886433
ebirs104886433
HLIrs104886433
Exacrs104886433
Varsomers104886433
Maprs104886433
PheGenIrs104886433
hapmaprs104886433
1000 genomesrs104886433
hgdprs104886433
ensemblrs104886433
gopubmedrs104886433
geneviewrs104886433
scholarrs104886433
googlers104886433
pharmgkbrs104886433
gwascentralrs104886433
openSNPrs104886433
23andMers104886433
23andMe allrs104886433
SNP Nexus

SNPshotrs104886433
SNPdbers104886433
MSV3drs104886433
GWAS Ctlgrs104886433
Max Magnitude0
ClinVar
Risk rs104886433(C;C)
Alt rs104886433(C;C)
Reference rs104886433(;)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107819143dupC
CLNSRC ClinVar
CLNACC RCV000021168.1,


[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