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: rs121918460
rs121918460
PTPN11
27 0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs1057518938
rs1057518938
MYH11 ; NDE1
5 0.882 0.080 16 15724166 missense variant C/G snv 0.700 0
dbSNP: rs113422242
rs113422242
FBN1
14 0.763 0.240 15 48510065 stop gained G/A snv 7.0E-06 0.700 0
dbSNP: rs1566911709
rs1566911709
FBN1
15 0.742 0.240 15 48495502 frameshift variant T/- delins 0.700 0
dbSNP: rs397515804
rs397515804
FBN1
11 0.776 0.200 15 48472628 missense variant C/A;T snv 0.700 0