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: rs113994063
rs113994063
EIF2B5
5 0.882 0.160 3 184140517 missense variant C/G;T snv 1.6E-05 2.8E-05 0.700 0
dbSNP: rs1247665387
rs1247665387
FA2H
14 0.807 0.360 16 74774623 missense variant C/A snv 7.0E-06 0.700 0
dbSNP: rs267606826
rs267606826
FOXG1
38 0.708 0.520 14 28767903 stop gained C/A;G;T snv 0.700 0
dbSNP: rs1085307993
rs1085307993
GABRB2
53 0.716 0.440 5 161331056 missense variant C/T snv 0.700 0
dbSNP: rs796052505
rs796052505
GABRG2
57 0.724 0.440 5 162095551 missense variant G/A;C snv 0.700 0
dbSNP: rs786205861
rs786205861
GCDH
3 1.000 0.120 19 12896913 missense variant C/T snv 0.700 0
dbSNP: rs104894442
rs104894442
GCH1
3 1.000 0.040 14 54844023 missense variant C/G snv 4.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs1566658823
rs1566658823
GCH1
4 1.000 0.120 14 54844138 missense variant A/G snv 0.700 0
dbSNP: rs1566687487
rs1566687487
GCH1
1 14 54902537 frameshift variant -/G delins 0.700 0
dbSNP: rs753374463
rs753374463
GNAL
2 18 11689847 missense variant T/C snv 2.2E-05 2.1E-05 0.010 1.000 1 2013 2013
dbSNP: rs1555507479
rs1555507479
GNAO1
12 0.807 0.160 16 56336799 missense variant C/A snv 0.700 0
dbSNP: rs1135401746
rs1135401746
GNB1
7 0.827 0.400 1 1806512 missense variant C/G snv 0.700 0
dbSNP: rs752746786
rs752746786
GNB1
30 0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 0.700 0
dbSNP: rs1296383102
rs1296383102
HIBCH
2 2 190208898 missense variant G/C snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs550921485
rs550921485
HPCA
3 1.000 0.080 1 32893848 missense variant G/A snv 4.9E-04 7.0E-05 0.010 1.000 1 2017 2017
dbSNP: rs574658589
rs574658589
HPCA
2 1 32888928 synonymous variant C/T snv 1.2E-05 0.010 1.000 1 2018 2018
dbSNP: rs775863165
rs775863165
HPCA
3 1.000 0.080 1 32889110 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs786205675
rs786205675
HPCA
3 1.000 0.080 1 32889123 missense variant C/A snv 0.010 1.000 1 2019 2019
dbSNP: rs1057519279
rs1057519279
KMT2B
3 1.000 19 35720980 stop gained C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs1057519281
rs1057519281
KMT2B
3 1.000 19 35721775 stop gained C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs1555731819
rs1555731819
KMT2B
26 0.807 0.200 19 35729980 missense variant G/T snv 0.700 0
dbSNP: rs34015634
rs34015634
LRRK2
8 0.851 0.120 12 40340380 missense variant T/C snv 3.2E-05 1.4E-05 0.010 1.000 1 2016 2016
dbSNP: rs1569548274
rs1569548274
MECP2
43 0.701 0.520 X 154030553 splice acceptor variant TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/- delins 0.700 0
dbSNP: rs1114167290
rs1114167290
MYO5A
5 0.882 0.080 15 52340235 missense variant G/C snv 0.700 0
dbSNP: rs80358259
rs80358259
NPC1
9 0.851 0.320 18 23536736 missense variant A/G snv 2.0E-04 2.4E-04 0.010 1.000 1 2003 2003