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rs587776400

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587776400(A;G)
Make rs587776400(G;G)
ReferenceGRCh38 38.1/142
ChromosomeX
Position108680677
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs587776400
ebirs587776400
HLIrs587776400
Exacrs587776400
Varsomers587776400
Maprs587776400
PheGenIrs587776400
hapmaprs587776400
1000 genomesrs587776400
hgdprs587776400
ensemblrs587776400
gopubmedrs587776400
geneviewrs587776400
scholarrs587776400
googlers587776400
pharmgkbrs587776400
gwascentralrs587776400
openSNPrs587776400
23andMers587776400
23andMe allrs587776400
SNP Nexus

SNPshotrs587776400
SNPdbers587776400
MSV3drs587776400
GWAS Ctlgrs587776400
Max Magnitude0
ClinVar
Risk rs587776400(G;G)
Alt rs587776400(G;G)
Reference rs587776400(A;A)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107923907A>G
CLNSRC ARUP COL4A5
CLNACC RCV000021570.1,