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: rs2578673
rs2578673
LARS2
5 1.000 3 45527650 intron variant T/C snv 0.90 0.700 1.000 1 2019 2019
dbSNP: rs2662411
rs2662411 		5 1.000 5 10133592 upstream gene variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs2789845
rs2789845
VAV2
5 1.000 9 133934793 intron variant C/T snv 0.80 0.700 1.000 1 2019 2019
dbSNP: rs2800778
rs2800778
PBX1
5 1.000 1 164652278 intron variant T/G snv 0.91 0.700 1.000 1 2019 2019
dbSNP: rs2801270
rs2801270 		5 1.000 21 13297803 intergenic variant A/G snv 7.8E-02 0.700 1.000 1 2019 2019
dbSNP: rs28404523
rs28404523
LOC105371544
5 1.000 17 13627527 intergenic variant G/A snv 0.23 0.700 1.000 1 2019 2019
dbSNP: rs28508297
rs28508297 		5 1.000 14 106125683 upstream gene variant G/C snv 8.8E-02 0.700 1.000 1 2019 2019
dbSNP: rs28711761
rs28711761 		5 1.000 8 6894170 downstream gene variant A/G snv 8.3E-02 0.700 1.000 1 2019 2019
dbSNP: rs2883821
rs2883821
IGSF21
5 1.000 1 18240357 intron variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs28908768
rs28908768
CYP3A4
5 1.000 7 99771177 intron variant -/CT delins 0.700 1.000 1 2019 2019
dbSNP: rs2953235
rs2953235
LINC00937
5 1.000 12 8336986 intron variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs3025678
rs3025678
CREBBP
5 1.000 16 3739076 intron variant C/T snv 7.2E-02 0.700 1.000 1 2019 2019
dbSNP: rs3131103
rs3131103
TRIM27
5 1.000 6 28925757 upstream gene variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs35290534
rs35290534 		5 1.000 4 187219164 regulatory region variant T/C snv 0.43 0.700 1.000 1 2019 2019
dbSNP: rs3806400
rs3806400
SLC2A1 ; SLC2A1-AS1
5 1.000 1 42960707 intron variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs4287603
rs4287603
RAP1GAP2
5 1.000 17 2872448 intron variant G/A snv 0.36 0.700 1.000 1 2019 2019
dbSNP: rs429360
rs429360
PLD5
5 1.000 1 242242264 intron variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs548853
rs548853
NCBP2 ; NCBP2AS2 ; NCBP2-AS1
5 1.000 3 196941488 splice region variant C/A;T snv 0.53 0.700 1.000 1 2019 2019
dbSNP: rs552304070
rs552304070
POU2F1
5 1.000 1 167426238 3 prime UTR variant AAA/-;A;AA;AAAA;AAAAAAAAA delins 4.6E-02 0.700 1.000 1 2019 2019
dbSNP: rs56775982
rs56775982 		5 1.000 8 54303623 regulatory region variant C/T snv 8.5E-02 0.700 1.000 1 2019 2019
dbSNP: rs57541735
rs57541735
TSSK3 ; FAM229A
5 1.000 1 32362000 missense variant G/A;C snv 4.6E-03 0.700 1.000 1 2019 2019
dbSNP: rs57989216
rs57989216 		5 1.000 6 31368014 intron variant G/A snv 3.2E-02 0.700 1.000 1 2019 2019
dbSNP: rs5993499
rs5993499 		5 1.000 22 16587858 downstream gene variant C/T snv 6.8E-02 0.700 1.000 1 2019 2019
dbSNP: rs60463810
rs60463810 		5 1.000 6 148588135 intergenic variant C/T snv 0.12 0.700 1.000 1 2019 2019
dbSNP: rs61433759
rs61433759
LINC01150
5 1.000 11 1897978 intron variant T/G snv 7.7E-02 0.700 1.000 1 2019 2019