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rs587776401

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587776401(A;A)
Make rs587776401(A;G)
ReferenceGRCh38 38.1/142
ChromosomeX
Position108680957
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs587776401
ebirs587776401
HLIrs587776401
Exacrs587776401
Varsomers587776401
Maprs587776401
PheGenIrs587776401
hapmaprs587776401
1000 genomesrs587776401
hgdprs587776401
ensemblrs587776401
gopubmedrs587776401
geneviewrs587776401
scholarrs587776401
googlers587776401
pharmgkbrs587776401
gwascentralrs587776401
openSNPrs587776401
23andMers587776401
23andMe allrs587776401
SNP Nexus

SNPshotrs587776401
SNPdbers587776401
MSV3drs587776401
GWAS Ctlgrs587776401
Max Magnitude0
ClinVar
Risk rs587776401(A,C;A,C)
Alt rs587776401(A,C;A,C)
Reference rs587776401(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107924187G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021581.1,