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: rs13047590
rs13047590
ADARB1
1 21 45143905 intron variant C/T snv 0.19 0.700 1.000 1 2019 2019
dbSNP: rs1377817
rs1377817
MYH14
1 19 50300809 intron variant T/G snv 0.15 0.700 1.000 1 2019 2019
dbSNP: rs138013532
rs138013532
TENM3
1 4 182631880 intron variant C/T snv 5.9E-03 0.700 1.000 1 2019 2019
dbSNP: rs150691387
rs150691387
SEM1
1 7 96538498 intron variant A/G snv 7.8E-03 0.700 1.000 1 2019 2019
dbSNP: rs36116683
rs36116683 		1 15 70518645 regulatory region variant A/G snv 0.27 0.700 1.000 1 2019 2019
dbSNP: rs61878760
rs61878760
TEAD1
1 11 12785642 intron variant G/A;C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs6759709
rs6759709
MYT1L
1 2 2043625 intron variant A/G snv 0.28 0.700 1.000 1 2019 2019