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: rs12310519
rs12310519
SOX5
1 12 23822285 intron variant C/T snv 0.17 0.700 1.000 1 2018 2018
dbSNP: rs1453867
rs1453867
DIS3L2
1 2 232053189 intron variant C/T snv 0.56 0.700 1.000 1 2018 2018
dbSNP: rs4384683
rs4384683
DCC
1 18 52852662 intron variant G/A snv 0.56 0.700 1.000 1 2018 2018
dbSNP: rs7833174
rs7833174
GSDMC
1 8 129706526 intron variant T/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs1163944538
rs1163944538
TMEM94
73 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
dbSNP: rs1352010373
rs1352010373
TMEM94
73 0.641 0.560 17 75489265 splice acceptor variant G/C snv 0.700 0
dbSNP: rs1563452941
rs1563452941
SLC20A2
13 0.882 0.120 8 42437137 stop gained C/A snv 0.700 0
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2019 2019
dbSNP: rs6746030
rs6746030
SCN9A ; SCN1A-AS1
16 0.763 0.320 2 166242648 missense variant A/G snv 0.88 0.88 0.010 1.000 1 2018 2018
dbSNP: rs998259
rs998259
GCH1
3 1.000 0.080 14 54888313 intron variant C/A;T snv 0.010 1.000 1 2010 2010