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: rs786205724
rs786205724
ANK2
1 4 113282730 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs1800497
rs1800497
ANKK1
56 0.620 0.400 11 113400106 missense variant G/A snv 0.26 0.26 0.010 1.000 1 2018 2018
dbSNP: rs1553709380
rs1553709380
ATP6V1A
3 0.925 0.040 3 113778833 missense variant C/G snv 0.010 1.000 1 2018 2018
dbSNP: rs886040971
rs886040971
TRPS1
56 0.683 0.280 8 115604339 stop gained G/A;T snv 0.700 0
dbSNP: rs1555247672
rs1555247672
MED13L
14 0.827 0.200 12 116007542 stop gained G/A snv 0.700 0
dbSNP: rs4986791
rs4986791
TLR4
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.020 1.000 2 2013 2015
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2018 2020
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.030 1.000 3 2011 2020
dbSNP: rs1555206402
rs1555206402
HMBS
26 0.790 0.320 11 119093274 stop lost GCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCT/- delins 0.700 0
dbSNP: rs397515327
rs397515327
DPAGT1 ; LOC107984397
2 1.000 0.080 11 119100785 missense variant G/A;C snv 8.0E-06; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs886041874
rs886041874
PHGDH
2 1.000 0.040 1 119721323 splice donor variant T/C snv 4.0E-06 0.700 0
dbSNP: rs764618040
rs764618040
PHGDH ; LOC105378936
2 1.000 0.040 1 119726868 missense variant C/T snv 1.6E-05 2.1E-05 0.700 0
dbSNP: rs121434616
rs121434616
CUL4B
6 0.925 0.080 X 120544179 stop gained G/A snv 0.700 0
dbSNP: rs1057518443
rs1057518443
CUL4B
3 1.000 0.040 X 120557964 missense variant T/C snv 0.010 1.000 1 2018 2018
dbSNP: rs534517447
rs534517447
GRIK4 ; LOC101929208
4 0.925 0.160 11 120956935 missense variant G/A snv 2.9E-05 7.0E-06 0.700 0
dbSNP: rs869312699
rs869312699
GRIK4
4 0.925 0.160 11 120986102 protein altering variant CTGGCGCAGGAGGCC/GCT delins 0.700 0
dbSNP: rs776300630
rs776300630
HIVEP1
4 0.925 0.080 6 12123884 missense variant G/C;T snv 8.0E-06 0.700 0
dbSNP: rs370079169
rs370079169
CACNA1H
1 16 1213792 missense variant G/A;C snv 3.7E-04; 1.2E-05 0.010 1.000 1 2009 2009
dbSNP: rs3755724
rs3755724
SYN2 ; TIMP4
8 0.790 0.360 3 12159406 intron variant C/T snv 0.31 0.010 1.000 1 2015 2015
dbSNP: rs113993970
rs113993970
HTRA1
5 0.925 0.240 10 122506817 stop gained C/T snv 8.0E-06 3.5E-05 0.700 0
dbSNP: rs752134549
rs752134549
RSRC2
6 0.827 0.200 12 122517404 missense variant C/T snv 1.6E-05 7.0E-06 0.700 0
dbSNP: rs796052243
rs796052243
SPATA5
54 0.695 0.520 4 122934574 inframe deletion CAA/- delins 0.700 0
dbSNP: rs1555155556
rs1555155556
BORCS5
6 0.851 0.120 12 12435627 splice acceptor variant G/T snv 0.700 0
dbSNP: rs1556620697
rs1556620697
SH2D1A ; STAG2
10 0.827 0.360 X 124365758 splice region variant C/G snv 0.700 0
dbSNP: rs1565339091
rs1565339091
HEPACAM ; LOC107984406
4 1.000 0.200 11 124924796 missense variant T/C snv 0.700 0