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rs606231370

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs606231370(-;-)
Make rs606231370(-;AACC)
Make rs606231370(AACC;AACC)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position108677578
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs606231370
ebirs606231370
HLIrs606231370
Exacrs606231370
Varsomers606231370
Maprs606231370
PheGenIrs606231370
hapmaprs606231370
1000 genomesrs606231370
hgdprs606231370
ensemblrs606231370
gopubmedrs606231370
geneviewrs606231370
scholarrs606231370
googlers606231370
pharmgkbrs606231370
gwascentralrs606231370
openSNPrs606231370
23andMers606231370
23andMe allrs606231370
SNP Nexus

SNPshotrs606231370
SNPdbers606231370
MSV3drs606231370
GWAS Ctlgrs606231370
Max Magnitude0
ClinVar
Risk rs606231370(CCAA;CCAA)
Alt rs606231370(CCAA;CCAA)
Reference rs606231370(;)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107920805_107920808dupAACC
CLNSRC
CLNACC RCV000021566.1,