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: rs606231450
rs606231450
BRF1
0.882 0.160 14 105226674 missense variant G/C;T snv 4.0E-06; 4.0E-06
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs606231450
rs606231450
BRF1
0.882 0.160 14 105226674 missense variant G/C;T snv 4.0E-06; 4.0E-06
CUI: C0266039
Disease: Taurodontism
Taurodontism 		0.700 0
dbSNP: rs606231450
rs606231450
BRF1
0.882 0.160 14 105226674 missense variant G/C;T snv 4.0E-06; 4.0E-06
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0