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rs201230446

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs201230446(C;T)
Make rs201230446(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position72014641
GeneDHODH
is asnp
is mentioned by
dbSNPrs201230446
ebirs201230446
HLIrs201230446
Exacrs201230446
Varsomers201230446
Maprs201230446
PheGenIrs201230446
hapmaprs201230446
1000 genomesrs201230446
hgdprs201230446
ensemblrs201230446
gopubmedrs201230446
geneviewrs201230446
scholarrs201230446
googlers201230446
pharmgkbrs201230446
gwascentralrs201230446
openSNPrs201230446
23andMers201230446
23andMe allrs201230446
SNP Nexus

SNPshotrs201230446
SNPdbers201230446
MSV3drs201230446
GWAS Ctlgrs201230446
GMAF0.0
Max Magnitude0
ClinVar
Risk rs201230446(T;T)
Alt rs201230446(T;T)
Reference rs201230446(C;C)
Significance Pathogenic
Disease Miller syndrome
Variation info
Gene DHODH
CLNDBN Miller syndrome
Reversed 0
HGVS NC_000016.9:g.72048540C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018292.27,