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rs104886096

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886096(A;A)
Make rs104886096(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108586676
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886096
ebirs104886096
HLIrs104886096
Exacrs104886096
Varsomers104886096
Maprs104886096
PheGenIrs104886096
hapmaprs104886096
1000 genomesrs104886096
hgdprs104886096
ensemblrs104886096
gopubmedrs104886096
geneviewrs104886096
scholarrs104886096
googlers104886096
pharmgkbrs104886096
gwascentralrs104886096
openSNPrs104886096
23andMers104886096
23andMe allrs104886096
SNP Nexus

SNPshotrs104886096
SNPdbers104886096
MSV3drs104886096
GWAS Ctlgrs104886096
Max Magnitude0
ClinVar
Risk rs104886096(A;A)
Alt rs104886096(A;A)
Reference rs104886096(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107829906G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021243.2,


[PMID 9195222] The clinical spectrum of type IV collagen mutations.

OMIM301050
Desc
Variant
Relatedalso