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rs104886209

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886209(G;T)
Make rs104886209(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108625768
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886209
ebirs104886209
HLIrs104886209
Exacrs104886209
Varsomers104886209
Maprs104886209
PheGenIrs104886209
hapmaprs104886209
1000 genomesrs104886209
hgdprs104886209
ensemblrs104886209
gopubmedrs104886209
geneviewrs104886209
scholarrs104886209
googlers104886209
pharmgkbrs104886209
gwascentralrs104886209
openSNPrs104886209
23andMers104886209
23andMe allrs104886209
SNP Nexus

SNPshotrs104886209
SNPdbers104886209
MSV3drs104886209
GWAS Ctlgrs104886209
Max Magnitude0
ClinVar
Risk rs104886209(T;T)
Alt rs104886209(T;T)
Reference rs104886209(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107868998G>T
CLNSRC ARUP COL4A5
CLNACC RCV000021469.1,


[PMID 15780079] Detection of mutations in the COL4A5 gene by analyzing cDNA of skin fibroblasts.

OMIM301050
Desc
Variant
Relatedalso