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rs267606767

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267606767(A;A)
Make rs267606767(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position72021211
GeneDHODH
is asnp
is mentioned by
dbSNPrs267606767
dbSNP (classic)rs267606767
ClinGenrs267606767
ebirs267606767
HLIrs267606767
Exacrs267606767
Gnomadrs267606767
Varsomers267606767
LitVarrs267606767
Maprs267606767
PheGenIrs267606767
Biobankrs267606767
1000 genomesrs267606767
hgdprs267606767
ensemblrs267606767
geneviewrs267606767
scholarrs267606767
googlers267606767
pharmgkbrs267606767
gwascentralrs267606767
openSNPrs267606767
23andMers267606767
SNPshotrs267606767
SNPdbers267606767
MSV3drs267606767
GWAS Ctlgrs267606767
Max Magnitude0
ClinVar
Risk rs267606767(A;A) rs267606767(C;C)
Alt rs267606767(A;A) rs267606767(C;C)
Reference Rs267606767(G;G)
Significance Pathogenic
Disease Miller syndrome
Variation info
Gene DHODH
CLNDBN Miller syndrome
Reversed 0
HGVS NC_000016.9:g.72055110G>A; NC_000016.9:g.72055110G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000018296.27, RCV000018295.27,