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rs104886262

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886262(A;A)
Make rs104886262(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108668468
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886262
ebirs104886262
HLIrs104886262
Exacrs104886262
Varsomers104886262
Maprs104886262
PheGenIrs104886262
hapmaprs104886262
1000 genomesrs104886262
hgdprs104886262
ensemblrs104886262
gopubmedrs104886262
geneviewrs104886262
scholarrs104886262
googlers104886262
pharmgkbrs104886262
gwascentralrs104886262
openSNPrs104886262
23andMers104886262
23andMe allrs104886262
SNP Nexus

SNPshotrs104886262
SNPdbers104886262
MSV3drs104886262
GWAS Ctlgrs104886262
Max Magnitude0
ClinVar
Risk rs104886262(A;A)
Alt rs104886262(A;A)
Reference rs104886262(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107911698G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021558.1,


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

OMIM301050
Desc
Variant
Relatedalso