Source: CLINVAR ×
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs113993993
rs113993993
9 0.851 0.040 7 66994210 splice donor variant A/C;G snv 4.0E-06; 3.9E-03 0.700 0
dbSNP: rs120074160
rs120074160
6 0.925 7 66994286 stop gained T/A snv 1.7E-04 1.0E-03 0.700 0
dbSNP: rs373730800
rs373730800
4 0.925 7 66995320 missense variant T/C;G snv 6.0E-05 0.700 0