rs373957300

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs373957300(A;A)

Make rs373957300(A;G)

Reference

GRCh38 38.1/142

Chromosome

14

Position

105228832

Gene

BRF1

is a	snp
is	mentioned by
dbSNP	rs373957300
dbSNP (classic)	rs373957300
ClinGen	rs373957300
ebi	rs373957300
HLI	rs373957300
Exac	rs373957300
Gnomad	rs373957300
Varsome	rs373957300
LitVar	rs373957300
Map	rs373957300
PheGenI	rs373957300
Biobank	rs373957300
1000 genomes	rs373957300
hgdp	rs373957300
ensembl	rs373957300
geneview	rs373957300
scholar	rs373957300
google	rs373957300
pharmgkb	rs373957300
gwascentral	rs373957300
openSNP	rs373957300
23andMe	rs373957300
SNPshot	rs373957300
SNPdbe	rs373957300
MSV3d	rs373957300
GWAS Ctlg	rs373957300

Max Magnitude

0

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 UniProtKB (protein)
CLNACC	RCV000148934.1, RCV000150044.3,