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: rs1554643168
rs1554643168
PUF60
7 0.851 0.160 8 143818077 splice acceptor variant T/C;G snv 0.700 0
dbSNP: rs1557570794
rs1557570794
ARID1A
15 0.742 0.120 1 26697152 frameshift variant -/GCCGCCTCCCTCCTCCAGCGCC delins 0.700 0
dbSNP: rs1563595095
rs1563595095
CHD7
10 0.776 0.320 8 60781285 frameshift variant AA/T delins 0.700 0
dbSNP: rs387906656
rs387906656
MYH6
6 0.807 0.120 14 23396970 missense variant G/A snv 2.1E-05 0.010 1.000 1 2018 2018
dbSNP: rs61751543
rs61751543
NOTCH1
1 1.000 0.080 9 136506781 missense variant C/T snv 1.5E-02 1.6E-02 0.010 1.000 1 2015 2015
dbSNP: rs753269427
rs753269427
PTPN11
1 1.000 0.080 12 112454578 synonymous variant C/T snv 2.8E-05 0.010 1.000 1 2005 2005