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: rs10001410
rs10001410
ADGRL3
1 1.000 0.040 4 61608511 intron variant C/A snv 0.55 0.010 1.000 1 2019 2019
dbSNP: rs1006737
rs1006737
CACNA1C
27 0.695 0.120 12 2236129 intron variant G/A snv 0.36 0.800 1.000 1 2013 2013
dbSNP: rs104894396
rs104894396
GJB2
28 0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04 0.700 0
dbSNP: rs10489744
rs10489744
RXRG
2 0.925 0.040 1 165411386 intron variant G/A snv 0.55 0.700 1.000 1 2017 2017
dbSNP: rs10492664
rs10492664 		2 0.925 0.040 13 108163877 intergenic variant C/A;T snv 0.700 1.000 1 2008 2008
dbSNP: rs1049522
rs1049522
SLC1A3
1 1.000 0.040 5 36686784 3 prime UTR variant A/C snv 0.35 0.010 1.000 1 2019 2019
dbSNP: rs10503253
rs10503253
CSMD1
5 0.851 0.040 8 4323322 intron variant C/A snv 0.18 0.800 1.000 1 2013 2013
dbSNP: rs1051266
rs1051266
SLC19A1
41 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.030 1.000 3 2014 2018
dbSNP: rs1051312
rs1051312
SNAP25 ; SNAP25-AS1
5 0.827 0.120 20 10306440 3 prime UTR variant T/C snv 0.20 0.030 0.667 3 2007 2013
dbSNP: rs10514604
rs10514604
ATP2C2
1 1.000 0.040 16 84412778 intron variant C/A;G snv 0.800 1.000 1 2008 2008
dbSNP: rs1057517991
rs1057517991
MC4R
2 0.925 0.120 18 60371539 missense variant A/G snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1057518083
rs1057518083
DYNC1H1
21 0.851 0.120 14 101986552 missense variant C/T snv 0.700 0
dbSNP: rs1057519438
rs1057519438
CDK20
4 0.925 0.080 9 87969919 stop gained C/G;T snv 4.9E-06 0.700 0
dbSNP: rs10762524
rs10762524
PRKG1
1 1.000 0.040 10 52014152 intron variant T/A;C;G snv 0.700 1.000 1 2010 2010
dbSNP: rs10823964
rs10823964
PRKG1
1 1.000 0.040 10 52017283 intron variant T/G snv 0.51 0.700 1.000 1 2010 2010
dbSNP: rs10823973
rs10823973
PRKG1
1 1.000 0.040 10 52019720 intron variant C/G;T snv 0.700 1.000 1 2010 2010
dbSNP: rs10826548
rs10826548 		1 1.000 0.040 10 28966665 intergenic variant C/A snv 0.13 0.700 1.000 1 2016 2016
dbSNP: rs1085307845
rs1085307845
PHIP
21 0.752 0.320 6 79025582 missense variant G/T snv 0.700 0
dbSNP: rs1085308045
rs1085308045
PTEN
8 0.807 0.160 10 87933128 missense variant C/G;T snv 0.700 0
dbSNP: rs1085308050
rs1085308050
PTEN
7 0.827 0.160 10 87933178 frameshift variant -/A delins 0.700 0
dbSNP: rs1085308056
rs1085308056
PTEN
8 0.851 0.160 10 87957850 splice region variant C/G snv 0.700 0
dbSNP: rs10891819
rs10891819
CADM1
1 1.000 0.040 11 115266527 intron variant T/G snv 0.33 0.010 1.000 1 2019 2019
dbSNP: rs10910623
rs10910623
MAP10
1 1.000 0.040 1 232802953 upstream gene variant G/A snv 7.5E-02 0.700 1.000 1 2016 2016
dbSNP: rs10956838
rs10956838 		2 1.000 0.040 8 92392214 intergenic variant A/C snv 0.28 0.700 1.000 1 2019 2019
dbSNP: rs10983238
rs10983238
ASTN2 ; LOC107987015
1 1.000 0.040 9 116571404 intron variant C/A;G snv 0.16 0.800 1.000 1 2008 2008