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: rs104894655
rs104894655
TCAP
3 0.925 0.120 17 39665762 stop gained C/T snv 1.4E-05 0.700 0
dbSNP: rs1555606959
rs1555606959
TCAP
2 1.000 0.120 17 39665391 frameshift variant -/G delins 0.700 0
dbSNP: rs45495192
rs45495192
TCAP
1 1.000 0.120 17 39665391 stop gained C/A;G;T snv 4.0E-06; 2.7E-04; 1.0E-03 0.700 0
dbSNP: rs786205076
rs786205076
TCAP
1 1.000 0.120 17 39665467 splice donor variant GG/- delins 0.700 0
dbSNP: rs863224933
rs863224933
TCAP
1 1.000 0.120 17 39665383 stop gained -/GAGGTGT delins 0.700 0