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rs104886310

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104886310(C;C)
Make rs104886310(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108696352
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886310
ebirs104886310
HLIrs104886310
Exacrs104886310
Varsomers104886310
Maprs104886310
PheGenIrs104886310
hapmaprs104886310
1000 genomesrs104886310
hgdprs104886310
ensemblrs104886310
gopubmedrs104886310
geneviewrs104886310
scholarrs104886310
googlers104886310
pharmgkbrs104886310
gwascentralrs104886310
openSNPrs104886310
23andMers104886310
23andMe allrs104886310
SNP Nexus

SNPshotrs104886310
SNPdbers104886310
MSV3drs104886310
GWAS Ctlgrs104886310
Max Magnitude0
ClinVar
Risk rs104886310(C;C)
Alt rs104886310(C;C)
Reference rs104886310(T;T)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107939582T>C
CLNSRC ARUP COL4A5
CLNACC RCV000021669.1,


OMIM301050
Desc
Variant
Relatedalso

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