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: rs1060499539
rs1060499539
ENAM
2 0.925 0.080 4 70631707 missense variant T/G snv 0.700 1.000 1 2017 2017
dbSNP: rs121908109
rs121908109
ENAM
1 1.000 0.080 4 70631882 stop gained A/G;T snv 4.0E-06; 1.6E-05 0.700 0
dbSNP: rs1553887511
rs1553887511
ENAM
1 1.000 0.080 4 70631740 splice donor variant T/G snv 0.700 0
dbSNP: rs587776587
rs587776587
ENAM
1 1.000 0.080 4 70635895 splice donor variant G/A snv 0.700 0
dbSNP: rs587776588
rs587776588
ENAM
2 0.925 0.080 4 70642685 frameshift variant -/AG ins 4.1E-06; 2.9E-04 2.0E-04 0.700 0
dbSNP: rs867263935
rs867263935
ENAM
2 0.925 0.080 4 70642073 missense variant C/T snv 4.0E-06 0.700 0