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rs104886194

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104886194(C;T)
Make rs104886194(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108622696
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886194
ebirs104886194
HLIrs104886194
Exacrs104886194
Varsomers104886194
Maprs104886194
PheGenIrs104886194
hapmaprs104886194
1000 genomesrs104886194
hgdprs104886194
ensemblrs104886194
gopubmedrs104886194
geneviewrs104886194
scholarrs104886194
googlers104886194
pharmgkbrs104886194
gwascentralrs104886194
openSNPrs104886194
23andMers104886194
23andMe allrs104886194
SNP Nexus

SNPshotrs104886194
SNPdbers104886194
MSV3drs104886194
GWAS Ctlgrs104886194
Max Magnitude0
ClinVar
Risk rs104886194(T;T)
Alt rs104886194(T;T)
Reference rs104886194(C;C)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107865926C>T
CLNSRC ARUP COL4A5
CLNACC RCV000021444.1,


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

OMIM301050
Desc
Variant
Relatedalso