Source: ALL

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: rs1057516049
rs1057516049
KAT6A
0.851 0.040 8 41933963 frameshift variant CACT/- delins
CUI: C0266011
Disease: Accessory nipple
Accessory nipple 		0.700 0
dbSNP: rs1555789019
rs1555789019
TCF4
0.882 0.320 18 55269829 splice donor variant ACCCAT/GGGAC delins
CUI: C0266011
Disease: Accessory nipple
Accessory nipple 		0.700 0
dbSNP: rs397515415
rs397515415
HDAC8
0.807 0.240 X 72495216 stop gained G/A;T snv
CUI: C0266011
Disease: Accessory nipple
Accessory nipple 		0.700 0