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rs387906972

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906972(C;T)
Make rs387906972(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position77367683
GeneADAMTS18
is asnp
is mentioned by
dbSNPrs387906972
ebirs387906972
HLIrs387906972
Exacrs387906972
Varsomers387906972
Maprs387906972
PheGenIrs387906972
hapmaprs387906972
1000 genomesrs387906972
hgdprs387906972
ensemblrs387906972
gopubmedrs387906972
geneviewrs387906972
scholarrs387906972
googlers387906972
pharmgkbrs387906972
gwascentralrs387906972
openSNPrs387906972
23andMers387906972
23andMe allrs387906972
SNP Nexus

SNPshotrs387906972
SNPdbers387906972
MSV3drs387906972
GWAS Ctlgrs387906972
Max Magnitude0
ClinVar
Risk rs387906972(A,T;A,T)
Alt rs387906972(A,T;A,T)
Reference rs387906972(C;C)
Significance Pathogenic
Disease Knobloch syndrome 1
Variation info
Gene ADAMTS18
CLNDBN Knobloch syndrome 1
Reversed 1
HGVS NC_000016.9:g.77401580G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023647.3,