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: rs138326449
rs138326449
1 0.851 0.080 11 116830638 splice donor variant G/A snv 1.4E-03 1.5E-03 0.700 1.000 2 2017 2018
dbSNP: rs76353203
rs76353203
2 1.000 0.040 11 116830637 stop gained C/G;T snv 8.0E-06; 6.6E-04 0.700 1.000 2 2017 2019