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rs104886218

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886218(G;T)
Make rs104886218(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108626291
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886218
ebirs104886218
HLIrs104886218
Exacrs104886218
Varsomers104886218
Maprs104886218
PheGenIrs104886218
hapmaprs104886218
1000 genomesrs104886218
hgdprs104886218
ensemblrs104886218
gopubmedrs104886218
geneviewrs104886218
scholarrs104886218
googlers104886218
pharmgkbrs104886218
gwascentralrs104886218
openSNPrs104886218
23andMers104886218
23andMe allrs104886218
SNP Nexus

SNPshotrs104886218
SNPdbers104886218
MSV3drs104886218
GWAS Ctlgrs104886218
Max Magnitude0
ClinVar
Risk rs104886218(T;T)
Alt rs104886218(T;T)
Reference rs104886218(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107869521G>T
CLNSRC ARUP COL4A5
CLNACC RCV000021480.1,


[PMID 15954103] Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome.

OMIM301050
Desc
Variant
Relatedalso