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rs104886449

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs104886449(-;-)
Make rs104886449(-;T)
Make rs104886449(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108582892
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886449
ebirs104886449
HLIrs104886449
Exacrs104886449
Varsomers104886449
Maprs104886449
PheGenIrs104886449
hapmaprs104886449
1000 genomesrs104886449
hgdprs104886449
ensemblrs104886449
gopubmedrs104886449
geneviewrs104886449
scholarrs104886449
googlers104886449
pharmgkbrs104886449
gwascentralrs104886449
openSNPrs104886449
23andMers104886449
23andMe allrs104886449
SNP Nexus

SNPshotrs104886449
SNPdbers104886449
MSV3drs104886449
GWAS Ctlgrs104886449
Max Magnitude0
ClinVar
Risk rs104886449(T;T)
Alt rs104886449(T;T)
Reference rs104886449(;)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107826122dupT
CLNSRC ClinVar
CLNACC RCV000021225.1,


[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