Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs370270828
rs370270828
BRF1
0.882 0.160 14 105241292 missense variant G/A snv 8.0E-06 2.8E-05
CUI: C4015495
Disease: CEREBELLOFACIODENTAL SYNDROME
CEREBELLOFACIODENTAL SYNDROME 		0.800 1.000 0 2015 2015
dbSNP: rs373957300
rs373957300
BRF1
0.882 0.160 14 105228832 missense variant G/A snv 1.6E-05 2.8E-05
CUI: C4015495
Disease: CEREBELLOFACIODENTAL SYNDROME
CEREBELLOFACIODENTAL SYNDROME 		0.800 1.000 0 2015 2015
dbSNP: rs606231450
rs606231450
BRF1
0.882 0.160 14 105226674 missense variant G/C;T snv 4.0E-06; 4.0E-06
CUI: C4015495
Disease: CEREBELLOFACIODENTAL SYNDROME
CEREBELLOFACIODENTAL SYNDROME 		0.800 1.000 0 2015 2015