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rs104886082

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886082(A;A)
Make rs104886082(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108581011
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886082
ebirs104886082
HLIrs104886082
Exacrs104886082
Varsomers104886082
Maprs104886082
PheGenIrs104886082
hapmaprs104886082
1000 genomesrs104886082
hgdprs104886082
ensemblrs104886082
gopubmedrs104886082
geneviewrs104886082
scholarrs104886082
googlers104886082
pharmgkbrs104886082
gwascentralrs104886082
openSNPrs104886082
23andMers104886082
23andMe allrs104886082
SNP Nexus

SNPshotrs104886082
SNPdbers104886082
MSV3drs104886082
GWAS Ctlgrs104886082
Max Magnitude0
ClinVar
Risk rs104886082(A;A)
Alt rs104886082(A;A)
Reference rs104886082(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107824241G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021220.1,


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

OMIM301050
Desc
Variant
Relatedalso