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rs606231416

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs606231416(C;T)
Make rs606231416(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome14
Position105241282
GeneBRF1
is asnp
is mentioned by
dbSNPrs606231416
ebirs606231416
HLIrs606231416
Exacrs606231416
Varsomers606231416
Maprs606231416
PheGenIrs606231416
hapmaprs606231416
1000 genomesrs606231416
hgdprs606231416
ensemblrs606231416
gopubmedrs606231416
geneviewrs606231416
scholarrs606231416
googlers606231416
pharmgkbrs606231416
gwascentralrs606231416
openSNPrs606231416
23andMers606231416
23andMe allrs606231416
SNP Nexus

SNPshotrs606231416
SNPdbers606231416
MSV3drs606231416
GWAS Ctlgrs606231416
Max Magnitude0
ClinVar
Risk rs606231416(T;T)
Alt rs606231416(T;T)
Reference rs606231416(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.105707619G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000148933.1, RCV000150043.2,