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: rs397516908
rs397516908
1 5 173233142 frameshift variant CCG/AT delins 0.700 1.000 2 1998 1999
dbSNP: rs11752813
rs11752813
1 6 42960279 upstream gene variant C/G snv 0.41 0.010 1.000 1 2017 2017
dbSNP: rs1176869
rs1176869
1 14 40807221 intron variant C/G snv 0.19 0.700 1.000 1 2017 2017
dbSNP: rs11895588
rs11895588
1 2 141204588 intron variant G/T snv 0.12 0.700 1.000 1 2017 2017
dbSNP: rs12438477
rs12438477
1 15 79885941 intron variant C/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1245314
rs1245314
1 14 27023434 intron variant A/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs145687528
rs145687528
1 9 125915818 missense variant C/T snv 7.2E-03 6.1E-03 0.010 1.000 1 2012 2012
dbSNP: rs17111230
rs17111230
1 14 40922047 intergenic variant G/C snv 0.56 0.700 1.000 1 2017 2017
dbSNP: rs1941023
rs1941023
1 11 60508428 downstream gene variant G/A snv 0.50 0.700 1.000 1 2017 2017
dbSNP: rs2844660
rs2844660
1 6 30855983 regulatory region variant T/C snv 7.9E-02 0.700 1.000 1 2017 2017
dbSNP: rs2850144
rs2850144
CBS
1 21 43076866 5 prime UTR variant C/G snv 0.88 0.010 1.000 1 2017 2017
dbSNP: rs492842
rs492842
1 5 79114164 intron variant C/T snv 0.59 0.010 1.000 1 2017 2017
dbSNP: rs542852
rs542852
1 5 79113573 intron variant T/C snv 0.63 0.010 1.000 1 2017 2017
dbSNP: rs56409046
rs56409046
1 6 9320073 intergenic variant C/T snv 0.27 0.700 1.000 1 2017 2017
dbSNP: rs6602178
rs6602178
1 10 17138170 3 prime UTR variant A/C snv 0.51 0.010 1.000 1 2017 2017
dbSNP: rs66678247
rs66678247
1 3 114227412 intron variant T/C snv 9.9E-02 0.700 1.000 1 2017 2017
dbSNP: rs7294985
rs7294985
1 12 16349610 intron variant A/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs75661265
rs75661265
1 8 59275232 regulatory region variant C/T snv 0.11 0.700 1.000 1 2017 2017
dbSNP: rs7941395
rs7941395
1 11 67579946 upstream gene variant A/G snv 0.38 0.010 1.000 1 2017 2017
dbSNP: rs876657934
rs876657934
1 5 173233212 splice region variant G/C snv 0.700 0
dbSNP: rs1343372308
rs1343372308
2 14 23413792 missense variant C/G snv 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs146189703
rs146189703
2 1.000 0.080 4 175023930 downstream gene variant T/C snv 0.14 0.700 1.000 1 2017 2017
dbSNP: rs200478425
rs200478425
2 1.000 0.040 17 44075780 missense variant G/A;C snv 4.0E-06; 5.6E-05 0.010 1.000 1 2013 2013
dbSNP: rs3832879
rs3832879
2 12 4372733 non coding transcript exon variant -/A;G ins 4.0E-06; 0.12; 4.0E-06; 4.0E-06 0.10 0.010 1.000 1 2013 2013
dbSNP: rs4720169
rs4720169
2 1.000 0.040 7 35247689 intron variant G/A snv 0.53 0.010 1.000 1 2019 2019