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rs104886075

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886075(A;A)
Make rs104886075(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108578087
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886075
ebirs104886075
HLIrs104886075
Exacrs104886075
Varsomers104886075
Maprs104886075
PheGenIrs104886075
hapmaprs104886075
1000 genomesrs104886075
hgdprs104886075
ensemblrs104886075
gopubmedrs104886075
geneviewrs104886075
scholarrs104886075
googlers104886075
pharmgkbrs104886075
gwascentralrs104886075
openSNPrs104886075
23andMers104886075
23andMe allrs104886075
SNP Nexus

SNPshotrs104886075
SNPdbers104886075
MSV3drs104886075
GWAS Ctlgrs104886075
Max Magnitude0
ClinVar
Risk rs104886075(A;A)
Alt rs104886075(A;A)
Reference rs104886075(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107821317G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021189.1,


[PMID 8651296OA-icon.png] X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene.

OMIM301050
Desc
Variant
Relatedalso