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rs104886068

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886068(A;A)
Make rs104886068(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108578319
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886068
ebirs104886068
HLIrs104886068
Exacrs104886068
Varsomers104886068
Maprs104886068
PheGenIrs104886068
hapmaprs104886068
1000 genomesrs104886068
hgdprs104886068
ensemblrs104886068
gopubmedrs104886068
geneviewrs104886068
scholarrs104886068
googlers104886068
pharmgkbrs104886068
gwascentralrs104886068
openSNPrs104886068
23andMers104886068
23andMe allrs104886068
SNP Nexus

SNPshotrs104886068
SNPdbers104886068
MSV3drs104886068
GWAS Ctlgrs104886068
Max Magnitude0
ClinVar
Risk rs104886068(A;A)
Alt rs104886068(A;A)
Reference rs104886068(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107821549G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021195.1,


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

OMIM301050
Desc
Variant
Relatedalso