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rs797045476

From SNPedia

Orientationplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045476(-;C)
Make rs797045476(C;C)
ReferenceGRCh38.p2 38.2/147
Chromosome21
Position45491275
GeneCOL18A1
is asnp
is mentioned by
dbSNPrs797045476
ClinGenrs797045476
ebirs797045476
HLIrs797045476
Exacrs797045476
Varsomers797045476
Maprs797045476
PheGenIrs797045476
hapmaprs797045476
1000 genomesrs797045476
hgdprs797045476
ensemblrs797045476
gopubmedrs797045476
geneviewrs797045476
scholarrs797045476
googlers797045476
pharmgkbrs797045476
gwascentralrs797045476
openSNPrs797045476
23andMers797045476
23andMe allrs797045476
SNP Nexus

SNPshotrs797045476
SNPdbers797045476
MSV3drs797045476
GWAS Ctlgrs797045476
Max Magnitude0
ClinVar
Risk rs797045476(C;C)
Alt rs797045476(C;C)
Reference Rs797045476(;)
Significance Pathogenic
Disease Knobloch syndrome 1 Knobloch syndrome
Variation info
Gene COL18A1
CLNDBN Knobloch syndrome 1 Knobloch syndrome, type 1
Reversed 0
HGVS NC_000021.8:g.46911189dupC
CLNSRC OMIM Allelic Variant
CLNACC RCV000055633.24, RCV000193047.1,