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rs104886409

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs104886409(-;-)
Make rs104886409(-;C)
Make rs104886409(C;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108681886
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886409
ebirs104886409
HLIrs104886409
Exacrs104886409
Varsomers104886409
Maprs104886409
PheGenIrs104886409
hapmaprs104886409
1000 genomesrs104886409
hgdprs104886409
ensemblrs104886409
gopubmedrs104886409
geneviewrs104886409
scholarrs104886409
googlers104886409
pharmgkbrs104886409
gwascentralrs104886409
openSNPrs104886409
23andMers104886409
23andMe allrs104886409
SNP Nexus

SNPshotrs104886409
SNPdbers104886409
MSV3drs104886409
GWAS Ctlgrs104886409
Max Magnitude0
ClinVar
Risk rs104886409(C;C)
Alt rs104886409(C;C)
Reference rs104886409(;)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107925116dupC
CLNSRC ClinVar
CLNACC RCV000021592.1,


[PMID 10955921] Sporadic case of X-chromosomal Alport syndrome in a consanguineous family.


[PMID 12105244] Meta-analysis of genotype-phenotype correlation in X-linked Alport syndrome: impact on clinical counselling.