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rs267606768

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267606768(C;T)
Make rs267606768(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position72022386
GeneDHODH
is asnp
is mentioned by
dbSNPrs267606768
dbSNP (classic)rs267606768
ClinGenrs267606768
ebirs267606768
HLIrs267606768
Exacrs267606768
Gnomadrs267606768
Varsomers267606768
LitVarrs267606768
Maprs267606768
PheGenIrs267606768
Biobankrs267606768
1000 genomesrs267606768
hgdprs267606768
ensemblrs267606768
geneviewrs267606768
scholarrs267606768
googlers267606768
pharmgkbrs267606768
gwascentralrs267606768
openSNPrs267606768
23andMers267606768
SNPshotrs267606768
SNPdbers267606768
MSV3drs267606768
GWAS Ctlgrs267606768
Max Magnitude0
ClinVar
Risk rs267606768(T;T)
Alt rs267606768(T;T)
Reference Rs267606768(C;C)
Significance Pathogenic
Disease Miller syndrome
Variation info
Gene DHODH
CLNDBN Miller syndrome
Reversed 0
HGVS NC_000016.9:g.72056285C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000018297.23,