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rs104886119

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886119(A;A)
Make rs104886119(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108597052
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886119
ebirs104886119
HLIrs104886119
Exacrs104886119
Varsomers104886119
Maprs104886119
PheGenIrs104886119
hapmaprs104886119
1000 genomesrs104886119
hgdprs104886119
ensemblrs104886119
gopubmedrs104886119
geneviewrs104886119
scholarrs104886119
googlers104886119
pharmgkbrs104886119
gwascentralrs104886119
openSNPrs104886119
23andMers104886119
23andMe allrs104886119
SNP Nexus

SNPshotrs104886119
SNPdbers104886119
MSV3drs104886119
GWAS Ctlgrs104886119
Max Magnitude0
ClinVar
Risk rs104886119(A;A)
Alt rs104886119(A;A)
Reference rs104886119(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107840282G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021303.1,


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

OMIM301050
Desc
Variant
Relatedalso