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: rs10449752
rs10449752 		1 1 56152275 intron variant T/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs10710459
rs10710459 		1 1 56467292 intron variant AAAAA/-;A;AA;AAA;AAAA;AAAAAA;AAAAAAA;AAAAAAAA delins 0.87 0.700 1.000 1 2016 2016
dbSNP: rs10911457
rs10911457
RGL1
1 1 183873970 intron variant T/C snv 0.55 0.700 1.000 1 2016 2016
dbSNP: rs11325774
rs11325774
EPRS1
1 1 220015795 intron variant AAA/-;A;AA;AAAA delins 0.64 0.700 1.000 1 2016 2016
dbSNP: rs1151786
rs1151786
TMCC2
1 1 205258632 intron variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs11587735
rs11587735
TENT5C
1 1 117610389 intron variant A/C snv 0.14 0.700 1.000 1 2016 2016
dbSNP: rs116100695
rs116100695
PKLR
3 0.925 0.120 1 155291918 missense variant G/A snv 3.0E-03 2.8E-03 0.700 1.000 1 2016 2016
dbSNP: rs1175550
rs1175550
SMIM1
5 1 3774964 intron variant A/G snv 0.31 0.700 1.000 1 2016 2016
dbSNP: rs12140703
rs12140703 		1 1 205213737 upstream gene variant G/C snv 0.27 0.700 1.000 1 2016 2016
dbSNP: rs12239179
rs12239179
LINC01222
1 1 199007363 non coding transcript exon variant C/T snv 0.70 0.700 1.000 1 2016 2016
dbSNP: rs12568930
rs12568930 		4 1.000 0.040 1 22375738 intergenic variant T/C snv 0.21 0.700 1.000 1 2016 2016
dbSNP: rs1339847
rs1339847
TRIM58
2 1 247875992 missense variant G/A snv 0.12 0.10 0.700 1.000 1 2016 2016
dbSNP: rs140446749
rs140446749
SPTA1
2 1 158668470 intron variant G/A snv 8.0E-03 0.700 1.000 1 2016 2016
dbSNP: rs141119689
rs141119689
PKLR
1 1 155301643 upstream gene variant A/- del 4.4E-02 0.700 1.000 1 2016 2016
dbSNP: rs1434282
rs1434282
LINC01221
6 1 199041592 non coding transcript exon variant C/T snv 0.76 0.700 1.000 1 2016 2016
dbSNP: rs145589976
rs145589976
RGL1
1 1 183878145 intron variant TTCTTTCT/-;TTCT;TTCTTTCTTTCT delins 0.700 1.000 1 2016 2016
dbSNP: rs17423390
rs17423390
USP48
1 1 21687978 intron variant G/T snv 0.44 0.700 1.000 1 2016 2016
dbSNP: rs17534202
rs17534202 		7 1.000 0.120 1 203312047 downstream gene variant G/C snv 0.40 0.700 1.000 1 2016 2016
dbSNP: rs17853159
rs17853159
TESK2
2 1 45345193 missense variant G/A snv 5.2E-02 5.1E-02 0.700 1.000 1 2016 2016
dbSNP: rs201514157
rs201514157
SPTA1
1 1 158613814 missense variant C/A snv 3.5E-04 4.0E-04 0.700 1.000 1 2016 2016
dbSNP: rs2022003
rs2022003
SPTA1
5 1 158617176 intron variant A/T snv 0.28 0.700 1.000 1 2016 2016
dbSNP: rs2251963
rs2251963
SPTA1
1 1 158612753 non coding transcript exon variant G/A snv 0.26 0.700 1.000 1 2016 2016
dbSNP: rs28513325
rs28513325
RHCE
1 1 25406057 intron variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs2991971
rs2991971 		1 1 45547076 upstream gene variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs34754277
rs34754277
TENT5C ; LOC100996263
1 1 117605270 intron variant T/C snv 0.14 0.700 1.000 1 2016 2016