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: rs200089714
rs200089714
IGHMBP2
1 1.000 0.040 11 68906109 stop gained C/G;T snv 3.2E-05 0.700 1.000 1 2003 2003
dbSNP: rs372181708
rs372181708
IGHMBP2
3 0.882 0.120 11 68933399 stop gained C/G;T snv 4.0E-06; 1.2E-05 0.700 1.000 1 2014 2014
dbSNP: rs375454176
rs375454176
TDRKH
2 1.000 0.040 1 151776497 missense variant C/T snv 1.2E-05 7.0E-06 0.700 0