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rs104886141

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886141(G;T)
Make rs104886141(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108598783
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886141
ebirs104886141
HLIrs104886141
Exacrs104886141
Varsomers104886141
Maprs104886141
PheGenIrs104886141
hapmaprs104886141
1000 genomesrs104886141
hgdprs104886141
ensemblrs104886141
gopubmedrs104886141
geneviewrs104886141
scholarrs104886141
googlers104886141
pharmgkbrs104886141
gwascentralrs104886141
openSNPrs104886141
23andMers104886141
23andMe allrs104886141
SNP Nexus

SNPshotrs104886141
SNPdbers104886141
MSV3drs104886141
GWAS Ctlgrs104886141
Max Magnitude0
ClinVar
Risk rs104886141(T;T)
Alt rs104886141(T;T)
Reference rs104886141(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107842013G>T
CLNSRC ARUP COL4A5
CLNACC RCV000021333.1,


[PMID 8940267OA-icon.png] Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome.

OMIM301050
Desc
Variant
Relatedalso