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rs370270828

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs370270828(A;A)
Make rs370270828(A;G)
ReferenceGRCh38 38.1/142
Chromosome14
Position105241292
GeneBRF1
is asnp
is mentioned by
dbSNPrs370270828
ebirs370270828
HLIrs370270828
Exacrs370270828
Varsomers370270828
Maprs370270828
PheGenIrs370270828
hapmaprs370270828
1000 genomesrs370270828
hgdprs370270828
ensemblrs370270828
gopubmedrs370270828
geneviewrs370270828
scholarrs370270828
googlers370270828
pharmgkbrs370270828
gwascentralrs370270828
openSNPrs370270828
23andMers370270828
23andMe allrs370270828
SNP Nexus

SNPshotrs370270828
SNPdbers370270828
MSV3drs370270828
GWAS Ctlgrs370270828
Max Magnitude0
ClinVar
Risk rs370270828(A;A)
Alt rs370270828(A;A)
Reference rs370270828(G;G)
Significance Pathogenic
Disease cerebellar-facial-dental syndrome Cerebellofaciodental syndrome
Variation info
Gene BRF1
CLNDBN cerebellar-facial-dental syndrome Cerebellofaciodental syndrome
Reversed 0
HGVS NC_000014.8:g.105707629G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000148935.1, RCV000150046.3,