Have questions? Visit https://www.reddit.com/r/SNPedia

rs373957300

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs373957300(A;A)
Make rs373957300(A;G)
ReferenceGRCh38 38.1/142
Chromosome14
Position105228832
GeneBRF1
is asnp
is mentioned by
dbSNPrs373957300
ebirs373957300
HLIrs373957300
Exacrs373957300
Varsomers373957300
Maprs373957300
PheGenIrs373957300
hapmaprs373957300
1000 genomesrs373957300
hgdprs373957300
ensemblrs373957300
gopubmedrs373957300
geneviewrs373957300
scholarrs373957300
googlers373957300
pharmgkbrs373957300
gwascentralrs373957300
openSNPrs373957300
23andMers373957300
23andMe allrs373957300
SNP Nexus

SNPshotrs373957300
SNPdbers373957300
MSV3drs373957300
GWAS Ctlgrs373957300
Max Magnitude0
ClinVar
Risk rs373957300(A;A)
Alt rs373957300(A;A)
Reference rs373957300(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.105695169G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000148934.1, RCV000150044.3,