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rs606231450

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs606231450(A;A)
Make rs606231450(A;C)
ReferenceGRCh38.p2 38.2/144
Chromosome14
Position105226674
GeneBRF1
is asnp
is mentioned by
dbSNPrs606231450
ebirs606231450
HLIrs606231450
Exacrs606231450
Varsomers606231450
Maprs606231450
PheGenIrs606231450
hapmaprs606231450
1000 genomesrs606231450
hgdprs606231450
ensemblrs606231450
gopubmedrs606231450
geneviewrs606231450
scholarrs606231450
googlers606231450
pharmgkbrs606231450
gwascentralrs606231450
openSNPrs606231450
23andMers606231450
23andMe allrs606231450
SNP Nexus

SNPshotrs606231450
SNPdbers606231450
MSV3drs606231450
GWAS Ctlgrs606231450
Max Magnitude0
ClinVar
Risk rs606231450(A;A)
Alt rs606231450(A;A)
Reference rs606231450(C;C)
Significance Pathogenic
Disease cerebellar-facial-dental syndrome Cerebellofaciodental syndrome
Variation info
Gene BRF1
CLNDBN cerebellar-facial-dental syndrome Cerebellofaciodental syndrome
Reversed 1
HGVS NC_000014.8:g.105693011G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000148936.1, RCV000150045.3,