Source: ALL
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: rs1057517696
rs1057517696
TMTC3
1 1.000 12 88188871 frameshift variant A/- delins 0.700 0
dbSNP: rs1057517697
rs1057517697
TMTC3
1 1.000 12 88195521 stop gained C/T snv 0.700 0
dbSNP: rs1057517698
rs1057517698
TMTC3
1 1.000 12 88148318 start lost G/A snv 0.700 0
dbSNP: rs1057519417
rs1057519417
TMTC3
1 1.000 12 88194862 frameshift variant -/TT delins 0.700 0
dbSNP: rs754200057
rs754200057
TMTC3
1 1.000 12 88153300 missense variant C/G;T snv 4.0E-06 0.700 0