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rs104886072

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104886072(-;-)
Make rs104886072(-;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108580564
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886072
ebirs104886072
HLIrs104886072
Exacrs104886072
Varsomers104886072
Maprs104886072
PheGenIrs104886072
hapmaprs104886072
1000 genomesrs104886072
hgdprs104886072
ensemblrs104886072
gopubmedrs104886072
geneviewrs104886072
scholarrs104886072
googlers104886072
pharmgkbrs104886072
gwascentralrs104886072
openSNPrs104886072
23andMers104886072
23andMe allrs104886072
SNP Nexus

SNPshotrs104886072
SNPdbers104886072
MSV3drs104886072
GWAS Ctlgrs104886072
Max Magnitude0
ClinVar
Risk rs104886072(;)
Alt rs104886072(;)
Reference rs104886072(C;C)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107823794delC
CLNSRC ClinVar
CLNACC RCV000021204.1,


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

OMIM301050
Desc
Variant
Relatedalso