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: rs72558181
rs72558181
MAT1A
2 1.000 0.080 10 80275177 missense variant C/T snv 0.810 1.000 12 1995 2015
dbSNP: rs118204005
rs118204005
MAT1A
1 1.000 0.080 10 80275178 missense variant G/A snv 0.800 1.000 3 2000 2015
dbSNP: rs118204003
rs118204003
MAT1A
1 1.000 0.080 10 80274535 missense variant G/A snv 3.2E-05 2.1E-05 0.800 1.000 1 1995 1995
dbSNP: rs138556525
rs138556525
MAT1A
1 1.000 0.080 10 80275192 missense variant G/A;C snv 1.2E-05; 4.0E-06 0.700 1.000 5 2011 2017
dbSNP: rs138742870
rs138742870
MAT1A
1 1.000 0.080 10 80274538 missense variant C/G;T snv 8.0E-06; 1.2E-05 0.700 1.000 4 1995 2000
dbSNP: rs376757912
rs376757912
MAT1A
1 1.000 0.080 10 80280193 missense variant G/A;T snv 7.6E-05 0.700 1.000 3 2014 2017
dbSNP: rs1170028069
rs1170028069
MAT1A
1 1.000 0.080 10 80273837 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs118204001
rs118204001
MAT1A
1 1.000 0.080 10 80274639 missense variant A/C snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs118204002
rs118204002
MAT1A
1 1.000 0.080 10 80285517 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs118204004
rs118204004
MAT1A
1 1.000 0.080 10 80275054 missense variant A/G snv 0.700 0
dbSNP: rs118204006
rs118204006
MAT1A
1 1.000 0.080 10 80274599 missense variant C/T snv 8.0E-06 0.700 0
dbSNP: rs376993881
rs376993881
MAT1A
1 1.000 0.080 10 80275073 missense variant G/A snv 2.6E-05 2.8E-05 0.700 0
dbSNP: rs773267230
rs773267230
MAT1A
1 1.000 0.080 10 80276549 missense variant G/A snv 4.4E-05 1.4E-05 0.700 0
dbSNP: rs121964972
rs121964972
CBS
5 0.851 0.160 21 43060528 missense variant G/A snv 2.9E-05 0.010 1.000 1 2003 2003
dbSNP: rs1417529866
rs1417529866
ADK
2 1.000 0.080 10 74394294 missense variant T/C snv 8.0E-06 0.010 1.000 1 2019 2019