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: rs441460
rs441460
CARMIL1
1 6 25548060 intron variant G/A snv 0.45 0.800 1.000 1 2011 2011
dbSNP: rs4731120
rs4731120
HYAL4
1 7 123771169 intergenic variant A/C snv 6.5E-02 0.800 1.000 1 2011 2011
dbSNP: rs4938642
rs4938642
CBL
2 1.000 0.040 11 119229196 intron variant G/C snv 6.0E-02 0.800 1.000 1 2011 2011
dbSNP: rs4968031
rs4968031
CHP2
1 16 23754453 non coding transcript exon variant G/A snv 7.7E-02 0.800 1.000 1 2011 2011
dbSNP: rs625132
rs625132
EHD3
1 2 31259434 intron variant A/G snv 0.82 0.800 1.000 1 2011 2011
dbSNP: rs6995402
rs6995402
PLEC
1 8 143931393 intron variant T/C snv 0.800 1.000 1 2011 2011
dbSNP: rs700585
rs700585
MEF2C
1 5 88856300 intron variant C/A;T snv 0.800 1.000 1 2011 2011
dbSNP: rs708382
rs708382
FAM171A2
2 1.000 0.040 17 44364976 upstream gene variant T/C snv 0.39 0.800 1.000 1 2011 2011
dbSNP: rs7149242
rs7149242 		1 14 100693079 intergenic variant T/G snv 0.62 0.800 1.000 1 2011 2011
dbSNP: rs7550918
rs7550918
GCSAML
1 1 247512257 intron variant C/T snv 0.70 0.800 1.000 1 2011 2011
dbSNP: rs7616006
rs7616006 		2 3 12226148 intergenic variant A/G snv 0.48 0.800 1.000 1 2011 2011
dbSNP: rs7694379
rs7694379 		3 1.000 4 87265357 intron variant G/A snv 0.40 0.800 1.000 1 2011 2011
dbSNP: rs7961894
rs7961894
WDR66
2 12 121927677 intron variant C/T snv 7.3E-02 0.800 1.000 1 2011 2011
dbSNP: rs8006385
rs8006385
ITPK1
1 14 93034681 intron variant A/G snv 0.13 0.800 1.000 1 2011 2011
dbSNP: rs8022206
rs8022206
RAD51B
2 14 68054189 intron variant G/A snv 0.18 0.800 1.000 1 2011 2011
dbSNP: rs941207
rs941207
BAZ2A
1 12 56629500 intron variant C/G snv 0.20 0.800 1.000 1 2011 2011
dbSNP: rs12526480
rs12526480
CARMIL1
2 6 25533306 intron variant T/G snv 0.32 0.700 1.000 1 2012 2012
dbSNP: rs151361
rs151361
PRELID3B ; SLMO2-ATP5E
2 20 59038947 intron variant A/G snv 0.24 0.700 1.000 1 2012 2012
dbSNP: rs477895
rs477895
BAD ; GPR137
2 11 64281440 intron variant C/T snv 0.74 0.700 1.000 1 2012 2012
dbSNP: rs1203981
rs1203981
LUC7L
1 16 215160 intron variant C/T snv 0.61 0.700 1.000 1 2013 2013
dbSNP: rs457287
rs457287
RCL1
1 9 4834394 intron variant A/G;T snv 0.800 1.000 1 2013 2013
dbSNP: rs505404
rs505404
PSMD13
2 11 243268 non coding transcript exon variant T/G snv 0.28 0.800 1.000 2 2011 2014
dbSNP: rs739496
rs739496
ATXN2 ; SH2B3
10 0.790 0.160 12 111449855 3 prime UTR variant A/G snv 0.27 0.700 1.000 2 2010 2014
dbSNP: rs3733606
rs3733606
KIAA0232
1 4 6881285 3 prime UTR variant C/T snv 0.15 0.700 1.000 1 2014 2014
dbSNP: rs423955
rs423955
RCL1
1 9 4792339 upstream gene variant C/A;G;T snv 0.56 0.800 1.000 1 2014 2014