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rs267606769

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267606769(C;T)
Make rs267606769(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position72021201
GeneDHODH
is asnp
is mentioned by
dbSNPrs267606769
dbSNP (classic)rs267606769
ClinGenrs267606769
ebirs267606769
HLIrs267606769
Exacrs267606769
Gnomadrs267606769
Varsomers267606769
LitVarrs267606769
Maprs267606769
PheGenIrs267606769
Biobankrs267606769
1000 genomesrs267606769
hgdprs267606769
ensemblrs267606769
geneviewrs267606769
scholarrs267606769
googlers267606769
pharmgkbrs267606769
gwascentralrs267606769
openSNPrs267606769
23andMers267606769
SNPshotrs267606769
SNPdbers267606769
MSV3drs267606769
GWAS Ctlgrs267606769
Max Magnitude0
ClinVar
Risk rs267606769(T;T)
Alt rs267606769(T;T)
Reference Rs267606769(C;C)
Significance Pathogenic
Disease Miller syndrome
Variation info
Gene DHODH
CLNDBN Miller syndrome
Reversed 0
HGVS NC_000016.9:g.72055100C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000018299.27,