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rs104886071

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104886071(C;T)
Make rs104886071(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108580548
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886071
ebirs104886071
HLIrs104886071
Exacrs104886071
Varsomers104886071
Maprs104886071
PheGenIrs104886071
hapmaprs104886071
1000 genomesrs104886071
hgdprs104886071
ensemblrs104886071
gopubmedrs104886071
geneviewrs104886071
scholarrs104886071
googlers104886071
pharmgkbrs104886071
gwascentralrs104886071
openSNPrs104886071
23andMers104886071
23andMe allrs104886071
SNP Nexus

SNPshotrs104886071
SNPdbers104886071
MSV3drs104886071
GWAS Ctlgrs104886071
Max Magnitude0
ClinVar
Risk rs104886071(G,T;G,T)
Alt rs104886071(G,T;G,T)
Reference rs104886071(C;C)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107823778C>T
CLNSRC ARUP COL4A5
CLNACC RCV000021203.1,


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

OMIM301050
Desc
Variant
Relatedalso