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rs104886099

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886099(G;T)
Make rs104886099(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108591100
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886099
ebirs104886099
HLIrs104886099
Exacrs104886099
Varsomers104886099
Maprs104886099
PheGenIrs104886099
hapmaprs104886099
1000 genomesrs104886099
hgdprs104886099
ensemblrs104886099
gopubmedrs104886099
geneviewrs104886099
scholarrs104886099
googlers104886099
pharmgkbrs104886099
gwascentralrs104886099
openSNPrs104886099
23andMers104886099
23andMe allrs104886099
SNP Nexus

SNPshotrs104886099
SNPdbers104886099
MSV3drs104886099
GWAS Ctlgrs104886099
Max Magnitude0
ClinVar
Risk rs104886099(T;T)
Alt rs104886099(T;T)
Reference rs104886099(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107834330G>T
CLNSRC ARUP COL4A5
CLNACC RCV000021258.1,


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

OMIM301050
Desc
Variant
Relatedalso