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rs281874723

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281874723(A;A)
Make rs281874723(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108571414
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874723
ebirs281874723
HLIrs281874723
Exacrs281874723
Varsomers281874723
Maprs281874723
PheGenIrs281874723
hapmaprs281874723
1000 genomesrs281874723
hgdprs281874723
ensemblrs281874723
gopubmedrs281874723
geneviewrs281874723
scholarrs281874723
googlers281874723
pharmgkbrs281874723
gwascentralrs281874723
openSNPrs281874723
23andMers281874723
23andMe allrs281874723
SNP Nexus

SNPshotrs281874723
SNPdbers281874723
MSV3drs281874723
GWAS Ctlgrs281874723
Max Magnitude0
ClinVar
Risk rs281874723(A,T;A,T)
Alt rs281874723(A,T;A,T)
Reference rs281874723(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107814644G>A; NC_000023.10:g.107814644G>T
CLNSRC ARUP COL4A5
CLNACC RCV000021144.1, RCV000021145.1,


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