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rs1057516187

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(CC;CC) 0 common in clinvar
Make rs1057516187(CC;G)
Make rs1057516187(G;G)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position108666528
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs1057516187
dbSNP (old)rs1057516187
ClinGenrs1057516187
ebirs1057516187
HLIrs1057516187
Exacrs1057516187
Gnomadrs1057516187
Varsomers1057516187
Maprs1057516187
PheGenIrs1057516187
Biobankrs1057516187
1000 genomesrs1057516187
hgdprs1057516187
ensemblrs1057516187
gopubmedrs1057516187
geneviewrs1057516187
scholarrs1057516187
googlers1057516187
pharmgkbrs1057516187
gwascentralrs1057516187
openSNPrs1057516187
23andMers1057516187
23andMe allrs1057516187
SNPshotrs1057516187
SNPdbers1057516187
MSV3drs1057516187
GWAS Ctlgrs1057516187
Max Magnitude0
ClinVar
Risk rs1057516187(G;G)
Alt rs1057516187(G;G)
Reference Rs1057516187(CC;CC)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107909758_107909759delCCinsG
CLNSRC
CLNACC RCV000408880.1,