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rs104886066

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886066(A;A)
Make rs104886066(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108577980
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886066
ebirs104886066
HLIrs104886066
Exacrs104886066
Varsomers104886066
Maprs104886066
PheGenIrs104886066
hapmaprs104886066
1000 genomesrs104886066
hgdprs104886066
ensemblrs104886066
gopubmedrs104886066
geneviewrs104886066
scholarrs104886066
googlers104886066
pharmgkbrs104886066
gwascentralrs104886066
openSNPrs104886066
23andMers104886066
23andMe allrs104886066
SNP Nexus

SNPshotrs104886066
SNPdbers104886066
MSV3drs104886066
GWAS Ctlgrs104886066
Max Magnitude0
ClinVar
Risk rs104886066(A;A)
Alt rs104886066(A;A)
Reference rs104886066(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107821210G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021182.1,


[PMID 16941480] A two-tier approach to mutation detection in the COL4A5 gene for Alport syndrome.

OMIM301050
Desc
Variant
Relatedalso