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rs104886442

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886442(G;T)
Make rs104886442(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108580591
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886442
ebirs104886442
HLIrs104886442
Exacrs104886442
Varsomers104886442
Maprs104886442
PheGenIrs104886442
hapmaprs104886442
1000 genomesrs104886442
hgdprs104886442
ensemblrs104886442
gopubmedrs104886442
geneviewrs104886442
scholarrs104886442
googlers104886442
pharmgkbrs104886442
gwascentralrs104886442
openSNPrs104886442
23andMers104886442
23andMe allrs104886442
SNP Nexus

SNPshotrs104886442
SNPdbers104886442
MSV3drs104886442
GWAS Ctlgrs104886442
Max Magnitude0
ClinVar
Risk rs104886442(T;T)
Alt rs104886442(T;T)
Reference rs104886442(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107823821G>T
CLNSRC ARUP COL4A5
CLNACC RCV000021206.1,


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

OMIM301050
Desc
Variant
Relatedalso