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rs201947120

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs201947120(C;T)
Make rs201947120(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position72023536
GeneDHODH
is asnp
is mentioned by
dbSNPrs201947120
dbSNP (classic)rs201947120
ClinGenrs201947120
ebirs201947120
HLIrs201947120
Exacrs201947120
Gnomadrs201947120
Varsomers201947120
LitVarrs201947120
Maprs201947120
PheGenIrs201947120
Biobankrs201947120
1000 genomesrs201947120
hgdprs201947120
ensemblrs201947120
geneviewrs201947120
scholarrs201947120
googlers201947120
pharmgkbrs201947120
gwascentralrs201947120
openSNPrs201947120
23andMers201947120
SNPshotrs201947120
SNPdbers201947120
MSV3drs201947120
GWAS Ctlgrs201947120
Max Magnitude0
ClinVar
Risk rs201947120(T;T)
Alt rs201947120(T;T)
Reference Rs201947120(C;C)
Significance Pathogenic
Disease Miller syndrome
Variation info
Gene DHODH
CLNDBN Miller syndrome
Reversed 0
HGVS NC_000016.9:g.72057435C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000018291.27,