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: rs755919784
rs755919784
SPTLC3
2 1.000 0.080 20 13072400 missense variant T/C snv 2.6E-05 1.4E-05 0.700 1.000 1 2015 2015
dbSNP: rs104894080
rs104894080
GDAP1
9 0.790 0.120 8 74364005 missense variant C/T snv 3.2E-05 4.2E-05 0.700 0
dbSNP: rs1057518780
rs1057518780
GJB1
8 0.882 0.200 X 71224209 missense variant T/G snv 0.700 0
dbSNP: rs121908096
rs121908096
CYP27A1
10 0.827 0.320 2 218814186 missense variant C/A;T snv 8.0E-06; 2.9E-04 0.700 0
dbSNP: rs121913589
rs121913589
MPZ
7 0.827 0.200 1 161306863 missense variant C/A;G;T snv 0.700 0
dbSNP: rs267607261
rs267607261
MPV17
28 0.807 0.280 2 27312753 stop gained C/T snv 8.0E-06 0.700 0
dbSNP: rs368900406
rs368900406
MPV17
27 0.827 0.160 2 27312255 non coding transcript exon variant A/C snv 8.0E-06 2.1E-05 0.700 0
dbSNP: rs754081544
rs754081544
TWNK ; MRPL43
5 0.925 0.080 10 100988947 missense variant A/G snv 1.6E-05 7.0E-06 0.700 0
dbSNP: rs886556800
rs886556800
CYP27A1
10 0.827 0.320 2 218809576 splice acceptor variant G/T snv 0.700 0
dbSNP: rs10771973
rs10771973
FGD4
1 1.000 0.080 12 32640040 intron variant G/A snv 0.27 0.010 1.000 1 2012 2012
dbSNP: rs121913602
rs121913602
MPZ
5 0.851 0.120 1 161307308 missense variant T/A snv 0.010 1.000 1 1999 1999
dbSNP: rs4680
rs4680
COMT ; MIR4761
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.010 1.000 1 2019 2019
dbSNP: rs7349683
rs7349683
EPHA5
3 0.925 0.080 4 65332086 synonymous variant C/A;T snv 0.35 0.010 1.000 1 2012 2012
dbSNP: rs777050623
rs777050623
BCL11B
1 1.000 0.080 14 99175768 missense variant G/C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs8099917
rs8099917 		60 0.581 0.600 19 39252525 upstream gene variant T/G snv 0.16 0.010 1.000 1 2013 2013