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: rs727504256
rs727504256
3 0.882 0.080 7 55173984 missense variant G/A snv 8.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs748491031
rs748491031
8 0.827 0.120 7 55200384 stop gained C/G;T snv 1.2E-05 0.010 1.000 1 2019 2019
dbSNP: rs757699239
rs757699239
3 0.882 0.080 7 55201269 missense variant G/A;C snv 8.0E-06; 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs770443325
rs770443325
3 0.882 0.080 7 55172994 missense variant C/G;T snv 2.8E-05 0.010 1.000 1 2011 2011
dbSNP: rs776375114
rs776375114
4 0.851 0.080 7 55202577 missense variant G/A;C snv 4.0E-06; 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs884225
rs884225
5 0.827 0.160 7 55206391 3 prime UTR variant T/C;G snv 0.010 1.000 1 2019 2019