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: rs10876550
rs10876550
COPZ1
2 12 54318524 intron variant G/A snv 0.68 0.700 1.000 1 2018 2018
dbSNP: rs10893909
rs10893909
FLI1 ; SENCR
1 11 128695139 intron variant C/T snv 0.18 0.700 1.000 1 2016 2016
dbSNP: rs10914144
rs10914144
DNM3
3 1 171980610 intron variant T/C snv 0.78 0.800 1.000 1 2011 2011
dbSNP: rs10919585
rs10919585
MIR181A1HG
1 1 198806192 intron variant T/C snv 0.52 0.700 1.000 1 2018 2018
dbSNP: rs10940072
rs10940072
MAST4
2 5 66620956 intron variant G/A snv 0.37 0.700 1.000 1 2016 2016
dbSNP: rs10974808
rs10974808
RCL1
3 9 4840380 intron variant A/G snv 9.0E-02 0.700 1.000 1 2016 2016
dbSNP: rs10984466
rs10984466
HEMGN
1 9 97945710 upstream gene variant A/G snv 0.31 0.700 1.000 1 2016 2016
dbSNP: rs11066301
rs11066301
PTPN11
12 0.827 0.200 12 112433568 intron variant A/G snv 0.30 0.700 1.000 1 2009 2009
dbSNP: rs11071720
rs11071720
TPM1 ; TPM1-AS
3 15 63049797 intron variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs11082304
rs11082304
CABLES1
6 18 23141009 intron variant G/C;T snv 0.800 1.000 4 2011 2019
dbSNP: rs11083766
rs11083766
MARK4 ; EXOC3L2 ; BLOC1S3
2 19 45212232 intron variant T/C snv 0.26 0.700 1.000 1 2016 2016
dbSNP: rs11121845
rs11121845
PLOD1
1 1 11968598 intron variant C/T snv 0.50 0.700 1.000 1 2016 2016
dbSNP: rs111350029
rs111350029
PIEZO1 ; LOC100289580
1 16 88730362 intron variant -/AGGCGG delins 0.700 1.000 1 2016 2016
dbSNP: rs11142444
rs11142444
LOC101927086
1 9 70451220 intergenic variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs11175492
rs11175492
RASSF3
1 12 64641442 intron variant A/G snv 0.19 0.700 1.000 1 2016 2016
dbSNP: rs111941366
rs111941366
RHCE
2 1 25409878 intron variant C/T snv 0.30 0.700 1.000 1 2016 2016
dbSNP: rs11217191
rs11217191
CBL
1 11 119223937 intron variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs11240408
rs11240408 		1 1 205295408 intergenic variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs112505971
rs112505971
ANKRD26
13 10 27068541 intron variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs112790992
rs112790992
BRF1
1 14 105291880 intron variant A/C snv 0.31 0.700 1.000 1 2016 2016
dbSNP: rs11294619
rs11294619
PAK2
1 3 196784238 intron variant A/- delins 0.700 1.000 1 2016 2016
dbSNP: rs113128512
rs113128512
PDGFC
1 4 156761036 3 prime UTR variant T/C snv 6.7E-02 0.700 1.000 1 2016 2016
dbSNP: rs113373353
rs113373353
RASSF3
1 12 64613902 intron variant C/T snv 6.9E-02 0.700 1.000 1 2016 2016
dbSNP: rs11348701
rs11348701
ATXN2
1 12 111452430 3 prime UTR variant TTTT/-;T;TT;TTT;TTTTT;TTTTTT delins 0.31 0.700 1.000 1 2016 2016
dbSNP: rs11382616
rs11382616
RCOR1
1 14 102615129 intron variant C/-;CC;CCC;CCCC;CCCCC delins 0.700 1.000 1 2016 2016