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: rs880315
rs880315
CASZ1
9 0.925 0.120 1 10736809 intron variant T/C snv 0.32 0.700 1.000 8 2011 2018
dbSNP: rs17367504
rs17367504
MTHFR
9 1.000 0.040 1 11802721 intron variant A/G snv 0.14 0.700 1.000 5 2009 2018
dbSNP: rs17035646
rs17035646
CASZ1
6 1 10736490 intron variant G/A;T snv 0.700 1.000 3 2018 2019
dbSNP: rs2932538
rs2932538
MOV10
4 1 112673921 intron variant A/C;G snv 0.700 1.000 3 2011 2017
dbSNP: rs3790604
rs3790604
WNT2B
5 1 112504257 intron variant C/A snv 7.8E-02 0.700 1.000 3 2018 2019
dbSNP: rs10776752
rs10776752
WNT2B
4 1 112501706 intron variant G/T snv 8.8E-02 0.700 1.000 2 2018 2019
dbSNP: rs11210029
rs11210029 		1 1 41399621 regulatory region variant A/G;T snv 0.700 1.000 2 2018 2019
dbSNP: rs12035750
rs12035750
GTF2B
1 1 88866416 intron variant T/C snv 0.27 0.700 1.000 2 2019 2019
dbSNP: rs2004776
rs2004776
AGT
5 1 230712956 intron variant C/G;T snv 0.700 1.000 2 2017 2018
dbSNP: rs35479618
rs35479618
NPR1 ; MIR8083
3 1 153689947 missense variant G/A snv 9.5E-03 1.1E-02 0.700 1.000 2 2016 2019
dbSNP: rs3820068
rs3820068
CELA2B ; CELA2A
1 1 15471702 intron variant A/G snv 0.23 0.700 1.000 2 2017 2017
dbSNP: rs4651224
rs4651224
C1orf21 ; LOC107985236
1 1 184616048 intron variant C/T snv 0.58 0.700 1.000 2 2018 2019
dbSNP: rs72640287
rs72640287 		4 1 11905735 upstream gene variant C/T snv 2.6E-02 0.700 1.000 2 2018 2018
dbSNP: rs1014988
rs1014988
LOC112268218
1 1 1748780 upstream gene variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs10158347
rs10158347 		1 1 232393998 downstream gene variant A/G snv 0.31 0.700 1.000 1 2019 2019
dbSNP: rs1042010
rs1042010
CELA2B ; CELA2A ; LOC105376767
1 1 15467418 synonymous variant G/A;C snv 0.18 0.700 1.000 1 2017 2017
dbSNP: rs10429910
rs10429910
ZBTB41
1 1 197172123 intron variant A/C snv 0.28 0.21 0.700 1.000 1 2019 2019
dbSNP: rs1043069
rs1043069
XPR1
1 1 180890232 3 prime UTR variant T/G snv 0.38 0.700 1.000 1 2018 2018
dbSNP: rs1048238
rs1048238
HSPB7
1 1 16015154 3 prime UTR variant C/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs10745332
rs10745332
CAPZA1
3 1 112646431 intron variant G/A snv 0.77 0.700 1.000 1 2015 2015
dbSNP: rs10863578
rs10863578 		1 1 221040655 intergenic variant G/C snv 0.74 0.700 1.000 1 2019 2019
dbSNP: rs10911356
rs10911356
DNM3
1 1 172240607 intron variant A/G snv 0.16 0.700 1.000 1 2019 2019
dbSNP: rs10917420
rs10917420
ELOA-AS1
1 1 23736497 intron variant C/T snv 0.48 0.700 1.000 1 2019 2019
dbSNP: rs10922502
rs10922502 		1 1 88894475 upstream gene variant A/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs10923038
rs10923038
PKN2-AS1
1 1 88186088 intron variant C/A snv 0.47 0.700 1.000 1 2018 2018