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rs1057516191

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(TT;TT) 0 common in clinvar
Make rs1057516191(-;-)
Make rs1057516191(-;TT)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position207761315
GeneCD46
is asnp
is mentioned by
dbSNPrs1057516191
dbSNP (old)rs1057516191
ClinGenrs1057516191
ebirs1057516191
HLIrs1057516191
Exacrs1057516191
Gnomadrs1057516191
Varsomers1057516191
Maprs1057516191
PheGenIrs1057516191
Biobankrs1057516191
1000 genomesrs1057516191
hgdprs1057516191
ensemblrs1057516191
gopubmedrs1057516191
geneviewrs1057516191
scholarrs1057516191
googlers1057516191
pharmgkbrs1057516191
gwascentralrs1057516191
openSNPrs1057516191
23andMers1057516191
23andMe allrs1057516191
SNPshotrs1057516191
SNPdbers1057516191
MSV3drs1057516191
GWAS Ctlgrs1057516191
Max Magnitude0
ClinVar
Risk rs1057516191(-;-)
Alt rs1057516191(-;-)
Reference Rs1057516191(TT;TT)
Significance Pathogenic
Disease Atypical hemolytic-uremic syndrome 2
Variation info
Gene CD46
CLNDBN Atypical hemolytic-uremic syndrome 2
Reversed 0
HGVS NC_000001.10:g.207934660_207934661delTT
CLNSRC
CLNACC RCV000408782.1,