Gene: MSH2 ×
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: rs1064793981
rs1064793981
MSH2
1 1.000 0.040 2 47475030 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs1295445617
rs1295445617
MSH2
1 1.000 0.040 2 47403398 synonymous variant G/A;C;T snv 4.5E-06; 4.5E-06 0.010 1.000 1 2015 2015
dbSNP: rs3732183
rs3732183
MSH2
1 1.000 0.040 2 47466820 intron variant G/A;T snv 0.34; 4.0E-06 0.40 0.010 1.000 1 2019 2019
dbSNP: rs549467183
rs549467183
MSH2
2 0.925 0.080 2 47475228 missense variant G/A snv 1.3E-04 3.5E-05 0.010 1.000 1 2015 2015