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: rs1240512008
rs1240512008
HNF4A
2 1.000 0.040 20 44413780 missense variant G/A snv 0.010 1.000 1 2000 2000
dbSNP: rs1260236
rs1260236 		2 1.000 0.040 9 6023030 intergenic variant A/G snv 0.010 1.000 1 2018 2018
dbSNP: rs1264347
rs1264347
LINC00243
4 1.000 0.040 6 30830920 upstream gene variant C/T snv 7.9E-02 0.700 1.000 1 2019 2019
dbSNP: rs1282596664
rs1282596664
HNF1B
2 1.000 0.040 17 37731616 missense variant A/G snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs12910524
rs12910524 		2 1.000 0.040 15 101262360 intergenic variant T/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs12922822
rs12922822
UMOD
5 1.000 0.040 16 20356323 upstream gene variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1309065326
rs1309065326
TGM2
2 1.000 0.040 20 38141383 missense variant T/C snv 5.4E-06 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs13146355
rs13146355
SHROOM3
6 1.000 0.040 4 76490987 intron variant G/A snv 0.33 0.700 1.000 1 2019 2019
dbSNP: rs13427836
rs13427836
HS6ST1
2 1.000 0.040 2 128270387 intron variant C/T snv 0.11 0.700 1.000 1 2016 2016
dbSNP: rs1388926124
rs1388926124
HNF1A ; HNF1A-AS1
2 1.000 0.040 12 120978862 missense variant G/A snv 0.010 < 0.001 1 2006 2006
dbSNP: rs1406167595
rs1406167595
TCF7
2 1.000 0.040 5 134114958 missense variant G/A snv 1.5E-05 0.010 1.000 1 2000 2000
dbSNP: rs142318174
rs142318174
HNF1A ; HNF1A-AS1
2 1.000 0.040 12 120978923 missense variant G/C snv 2.0E-04 8.1E-04 0.010 1.000 1 2000 2000
dbSNP: rs143517122
rs143517122
PDX1
2 1.000 0.040 13 27924267 missense variant G/A;T snv 2.1E-04; 4.2E-06 0.010 1.000 1 2000 2000
dbSNP: rs145590578
rs145590578
SLC22A2
3 1.000 0.040 6 160236104 intron variant GTT/- delins 9.8E-02 0.700 1.000 1 2019 2019
dbSNP: rs148529020
rs148529020
ABCC8
2 1.000 0.040 11 17460613 missense variant C/T snv 1.2E-05 1.4E-05 0.010 1.000 1 2012 2012
dbSNP: rs149131600
rs149131600
HPN ; HPN-AS1
2 1.000 0.040 19 35058218 intron variant C/A;T snv 0.10 0.700 1.000 1 2019 2019
dbSNP: rs150179526
rs150179526
GCG ; LOC101929532
2 1.000 0.040 2 162144091 missense variant T/C;G snv 2.7E-03 0.010 < 0.001 1 2002 2002
dbSNP: rs1543654
rs1543654 		2 1.000 0.040 21 34426752 upstream gene variant T/C snv 0.010 1.000 1 2016 2016
dbSNP: rs1556751
rs1556751
PIP5K1B
3 1.000 0.040 9 68818296 intron variant G/A snv 0.63 0.700 1.000 1 2019 2019
dbSNP: rs15673
rs15673
SLC16A6 ; ARSG
2 1.000 0.040 17 68267123 3 prime UTR variant C/A;T snv 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs161827
rs161827
TNFRSF9
2 1.000 0.040 1 7921974 3 prime UTR variant T/C snv 0.12 0.010 1.000 1 2017 2017
dbSNP: rs17137004
rs17137004
FOXP2
2 1.000 0.040 7 114389196 intron variant A/G snv 0.38 0.700 1.000 1 2019 2019
dbSNP: rs17238540
rs17238540
HMGCR ; CERT1
2 1.000 0.040 5 75359673 non coding transcript exon variant T/G snv 4.0E-02 0.010 1.000 1 2008 2008
dbSNP: rs1744
rs1744
HLA-DQA2
2 1.000 0.040 6 32747257 downstream gene variant A/T snv 1.2E-02 0.010 1.000 1 2017 2017
dbSNP: rs17791685
rs17791685
APPL1 ; ASB14 ; LOC105377102
2 1.000 0.040 3 57272583 3 prime UTR variant C/A snv 0.19 0.010 1.000 1 2007 2007