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rs104886084

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886084(A;A)
Make rs104886084(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108582884
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886084
ebirs104886084
HLIrs104886084
Exacrs104886084
Varsomers104886084
Maprs104886084
PheGenIrs104886084
hapmaprs104886084
1000 genomesrs104886084
hgdprs104886084
ensemblrs104886084
gopubmedrs104886084
geneviewrs104886084
scholarrs104886084
googlers104886084
pharmgkbrs104886084
gwascentralrs104886084
openSNPrs104886084
23andMers104886084
23andMe allrs104886084
SNP Nexus

SNPshotrs104886084
SNPdbers104886084
MSV3drs104886084
GWAS Ctlgrs104886084
Max Magnitude0
ClinVar
Risk rs104886084(A;A)
Alt rs104886084(A;A)
Reference rs104886084(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107826114G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021224.1,


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

OMIM301050
Desc
Variant
Relatedalso