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rs104886050

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104886050(A;G)
Make rs104886050(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108440126
GeneCOL4A5, COL4A6
is asnp
is mentioned by
dbSNPrs104886050
ebirs104886050
HLIrs104886050
Exacrs104886050
Varsomers104886050
Maprs104886050
PheGenIrs104886050
hapmaprs104886050
1000 genomesrs104886050
hgdprs104886050
ensemblrs104886050
gopubmedrs104886050
geneviewrs104886050
scholarrs104886050
googlers104886050
pharmgkbrs104886050
gwascentralrs104886050
openSNPrs104886050
23andMers104886050
23andMe allrs104886050
SNP Nexus

SNPshotrs104886050
SNPdbers104886050
MSV3drs104886050
GWAS Ctlgrs104886050
Max Magnitude0
ClinVar
Risk rs104886050(G;G)
Alt rs104886050(G;G)
Reference rs104886050(A;A)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5 COL4A6
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107683356A>G
CLNSRC ARUP COL4A5
CLNACC RCV000021092.1,


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

OMIM301050
Desc
Variant
Relatedalso