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rs606231374

From SNPedia

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Geno Mag Summary
(ATTCCCC;ATTCCCC) 0 common in clinvar
Make rs606231374(-;-)
Make rs606231374(-;CCCCATT)
Make rs606231374(CCCCATT;CCCCATT)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position108694868
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs606231374
ebirs606231374
HLIrs606231374
Exacrs606231374
Varsomers606231374
Maprs606231374
PheGenIrs606231374
hapmaprs606231374
1000 genomesrs606231374
hgdprs606231374
ensemblrs606231374
gopubmedrs606231374
geneviewrs606231374
scholarrs606231374
googlers606231374
pharmgkbrs606231374
gwascentralrs606231374
openSNPrs606231374
23andMers606231374
23andMe allrs606231374
SNP Nexus

SNPshotrs606231374
SNPdbers606231374
MSV3drs606231374
GWAS Ctlgrs606231374
Max Magnitude0
ClinVar
Risk rs606231374(;)
Alt rs606231374(;)
Reference rs606231374(ATTCCCC;ATTCCCC)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107938098_107938104delCCCCATT
CLNSRC
CLNACC RCV000021643.1,