Source: CURATED ×
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: rs869320624
rs869320624
EMC1 ; EMC1-AS1
13 0.776 0.400 1 19220814 frameshift variant AAGG/- delins 1.4E-05 0.700 1.000 2 2016 2017
dbSNP: rs587779351
rs587779351
XRCC4
6 0.851 0.200 5 83105046 missense variant T/C snv 1.6E-05 0.700 1.000 1 2014 2014
dbSNP: rs121909224
rs121909224
PTEN
35 0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 0.700 0
dbSNP: rs56144125
rs56144125
TPP1
6 0.827 0.240 11 6617154 splice acceptor variant C/A;G;T snv 4.0E-04; 1.2E-05 0.700 0
dbSNP: rs794726710
rs794726710
SCN1A ; SCN1A-AS1 ; LOC102724058
4 0.882 0.160 2 166013812 stop gained G/A snv 0.700 0
dbSNP: rs863225082
rs863225082
MEA1 ; PPP2R5D
7 0.827 0.160 6 43007265 missense variant G/A snv 0.700 0
dbSNP: rs869312702
rs869312702
DNM1 ; CIZ1
10 0.827 0.160 9 128203609 missense variant G/A snv 0.700 0
dbSNP: rs878853161
rs878853161
SLC2A1
7 0.851 0.240 1 42929977 frameshift variant AT/- del 0.700 0