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rs398122391

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs398122391(-;-)
Make rs398122391(-;CT)
ReferenceGRCh38 38.1/141
Chromosome21
Position45510091
GeneCOL18A1
is asnp
is mentioned by
dbSNPrs398122391
ebirs398122391
HLIrs398122391
Exacrs398122391
Varsomers398122391
Maprs398122391
PheGenIrs398122391
hapmaprs398122391
1000 genomesrs398122391
hgdprs398122391
ensemblrs398122391
gopubmedrs398122391
geneviewrs398122391
scholarrs398122391
googlers398122391
pharmgkbrs398122391
gwascentralrs398122391
openSNPrs398122391
23andMers398122391
23andMe allrs398122391
SNP Nexus

SNPshotrs398122391
SNPdbers398122391
MSV3drs398122391
GWAS Ctlgrs398122391
Max Magnitude0
ClinVar
Risk rs398122391(;)
Alt rs398122391(;)
Reference rs398122391(CT;CT)
Significance Pathogenic
Disease Knobloch syndrome 1
Variation info
Gene COL18A1
CLNDBN Knobloch syndrome 1
Reversed 0
HGVS NC_000021.8:g.46930005_46930006delCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000055632.29,