Source: CURATED ×
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: rs10114314
rs10114314
LOC107987037
1 9 124046509 intergenic variant C/T snv 0.24 0.700 1.000 1 2018 2018
dbSNP: rs1015362
rs1015362 		2 0.925 0.080 20 34150806 regulatory region variant C/T snv 0.42 0.700 1.000 1 2008 2008
dbSNP: rs10169459
rs10169459 		1 2 221186699 intergenic variant T/C snv 0.56 0.700 1.000 1 2018 2018
dbSNP: rs1026872
rs1026872
ARHGAP24
1 4 85680478 intron variant A/T snv 0.49 0.700 1.000 1 2018 2018
dbSNP: rs1036464
rs1036464 		1 20 59266631 intergenic variant G/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs1042602
rs1042602
TYR ; LOC107984363
5 0.925 0.080 11 89178528 missense variant C/A snv 0.25 0.24 0.700 1.000 1 2018 2018
dbSNP: rs1060435
rs1060435
TPCN2
2 11 69088127 3 prime UTR variant A/G snv 0.28 0.700 1.000 1 2018 2018
dbSNP: rs10815302
rs10815302
KIAA2026
1 9 5887074 intron variant A/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs10818930
rs10818930 		1 9 124228906 intergenic variant T/G snv 0.65 0.700 1.000 1 2018 2018
dbSNP: rs10873172
rs10873172
SYNE2
1 14 63923312 intron variant G/C snv 0.68 0.700 1.000 1 2018 2018
dbSNP: rs10897275
rs10897275
AHNAK
1 11 62436393 intron variant G/A snv 0.32 0.700 1.000 1 2018 2018
dbSNP: rs10954300
rs10954300
LINC-PINT
1 7 131076476 intron variant G/A snv 0.50 0.700 1.000 1 2018 2018
dbSNP: rs10962599
rs10962599
BNC2
1 9 16795288 intron variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs11041426
rs11041426
PPFIBP2
1 11 7522288 intron variant G/A snv 0.63 0.700 1.000 1 2018 2018
dbSNP: rs11066284
rs11066284 		1 12 112404471 downstream gene variant T/A snv 0.37 0.700 1.000 1 2018 2018
dbSNP: rs11068059
rs11068059 		1 12 116529865 upstream gene variant A/C;T snv 0.32 0.700 1.000 1 2018 2018
dbSNP: rs1110400
rs1110400
MC1R
2 1.000 0.040 16 89919722 missense variant T/C snv 5.6E-03 6.6E-03 0.700 1.000 1 2018 2018
dbSNP: rs11158717
rs11158717
RAD51B
1 14 68047559 intron variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs11203346
rs11203346
PADI3
1 1 17274327 intron variant A/G snv 0.13 0.700 1.000 1 2018 2018
dbSNP: rs112115136
rs112115136
C1orf127
1 1 10977377 intron variant G/A snv 0.33 0.700 1.000 1 2018 2018
dbSNP: rs112535818
rs112535818
PIGV
1 1 26795661 intron variant C/G snv 7.4E-02 0.700 1.000 1 2018 2018
dbSNP: rs1129038
rs1129038
HERC2
8 0.851 0.120 15 28111713 3 prime UTR variant C/T snv 0.49 0.50 0.700 1.000 1 2018 2018
dbSNP: rs113060680
rs113060680 		1 8 42130366 upstream gene variant C/T snv 9.7E-02 0.700 1.000 1 2018 2018
dbSNP: rs1146927
rs1146927
EDNRB-AS1 ; LOC112268121
1 13 77791809 intron variant A/G snv 0.50 0.700 1.000 1 2013 2013
dbSNP: rs1154746
rs1154746 		1 3 178102968 intron variant T/A;C snv 0.700 1.000 1 2018 2018