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: rs606231416
rs606231416
BRF1
0.882 0.160 14 105241282 missense variant G/A snv 8.1E-06
CUI: C4015495
Disease: CEREBELLOFACIODENTAL SYNDROME
CEREBELLOFACIODENTAL SYNDROME 		0.800 0
dbSNP: rs606231416
rs606231416
BRF1
0.882 0.160 14 105241282 missense variant G/A snv 8.1E-06
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs606231416
rs606231416
BRF1
0.882 0.160 14 105241282 missense variant G/A snv 8.1E-06
CUI: C0266039
Disease: Taurodontism
Taurodontism 		0.700 0
dbSNP: rs606231416
rs606231416
BRF1
0.882 0.160 14 105241282 missense variant G/A snv 8.1E-06
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs606231416
rs606231416
BRF1
0.882 0.160 14 105241282 missense variant G/A snv 8.1E-06
CUI: C3279422
Disease: Prominent incisors
Prominent incisors 		0.700 0
dbSNP: rs606231416
rs606231416
BRF1
0.882 0.160 14 105241282 missense variant G/A snv 8.1E-06
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs606231416
rs606231416
BRF1
0.882 0.160 14 105241282 missense variant G/A snv 8.1E-06
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		0.700 0