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: rs202042867
rs202042867
POMC
1 1.000 0.080 2 25161630 missense variant G/C snv 8.6E-05 4.7E-04 0.010 1.000 1 2008 2008
dbSNP: rs206118
rs206118
BRCA2
2 0.925 0.080 13 32315655 5 prime UTR variant A/C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs2111398
rs2111398 		3 0.882 0.080 12 12922268 downstream gene variant A/G snv 0.49 0.700 1.000 1 2015 2015
dbSNP: rs2290419
rs2290419
LOC338694
3 0.882 0.080 11 69152181 intron variant A/G snv 4.6E-02 0.700 1.000 1 2015 2015
dbSNP: rs2357176
rs2357176
SYNE2
3 0.882 0.080 14 63942595 intron variant G/A snv 0.68 0.700 1.000 1 2018 2018
dbSNP: rs251464
rs251464
PPARGC1B
5 0.851 0.080 5 149816671 intron variant G/C snv 0.36 0.700 1.000 1 2018 2018
dbSNP: rs267600971
rs267600971
CYP21A2 ; DXO ; STK19
3 0.882 0.080 6 31972346 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs2695237
rs2695237 		3 0.882 0.080 1 226415934 upstream gene variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs2995264
rs2995264
STN1
4 0.851 0.080 10 103909085 intron variant G/A snv 0.88 0.700 1.000 1 2015 2015
dbSNP: rs34466956
rs34466956
NFIC
4 0.882 0.080 19 3353624 intron variant C/T snv 0.49 0.700 1.000 1 2018 2018
dbSNP: rs35158985
rs35158985
CDH1
6 0.882 0.080 16 68762843 intron variant A/G snv 0.38 0.700 1.000 1 2015 2015
dbSNP: rs3752447
rs3752447
N4BP2L1
2 0.925 0.080 13 32407005 non coding transcript exon variant C/T snv 0.17 0.010 1.000 1 2015 2015
dbSNP: rs416981
rs416981
MX2
3 0.882 0.080 21 41373487 intron variant G/A snv 0.48 0.700 1.000 1 2018 2018
dbSNP: rs45575338
rs45575338
TASOR2
3 0.882 0.080 10 5742188 missense variant A/C;G snv 0.19 0.700 1.000 1 2018 2018
dbSNP: rs4670813
rs4670813
CYP1B1 ; CYP1B1-AS1
3 0.882 0.080 2 38090568 intron variant G/A snv 0.40 0.700 1.000 1 2018 2018
dbSNP: rs4731207
rs4731207
GPR37
3 0.882 0.080 7 124756591 intron variant G/A snv 0.47 0.700 1.000 1 2015 2015
dbSNP: rs4731742
rs4731742
LINC-PINT
3 0.882 0.080 7 131070053 intron variant G/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs4778138
rs4778138
OCA2
6 0.851 0.080 15 28090674 intron variant A/G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs55875066
rs55875066
HDAC4
3 0.882 0.080 2 239154306 intron variant C/T snv 6.6E-02 0.700 1.000 1 2018 2018
dbSNP: rs56238684
rs56238684
PIGU
4 0.882 0.080 20 34648892 intron variant G/C snv 4.2E-02 0.700 1.000 1 2018 2018
dbSNP: rs600951
rs600951
DOCK8
3 0.882 0.080 9 224742 intron variant A/G snv 0.61 0.700 1.000 1 2018 2018
dbSNP: rs62068372
rs62068372
VPS9D1 ; ZNF276
2 0.925 0.080 16 89718699 intron variant T/C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs6750047
rs6750047
RMDN2
4 0.851 0.080 2 38049406 intron variant A/G snv 0.61 0.700 1.000 1 2015 2015
dbSNP: rs6914598
rs6914598
CDKAL1
4 0.851 0.080 6 21163688 intron variant T/C snv 0.38 0.700 1.000 1 2015 2015
dbSNP: rs7041168
rs7041168 		3 0.882 0.080 9 107936435 intergenic variant G/A;T snv 0.700 1.000 1 2015 2015