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: rs141627694
rs141627694
SLC5A2
1 16 31488637 missense variant T/C snv 6.6E-05 1.0E-04 0.700 1.000 1 2019 2019
dbSNP: rs201938902
rs201938902
ITGAD
1 16 31424046 non coding transcript exon variant A/G snv 0.26 0.700 1.000 1 2019 2019
dbSNP: rs752992795
rs752992795
N4BP1
1 16 48548859 intron variant T/A snv 4.1E-04 0.700 1.000 1 2019 2019
dbSNP: rs763092306
rs763092306
NEUROD1 ; CERKL
2 1.000 0.080 2 181678533 missense variant C/T snv 0.700 1.000 1 2019 2019
dbSNP: rs766982432
rs766982432
HNF1A
1 12 120994315 frameshift variant C/-;CC;CCC delins 0.700 1.000 1 2019 2019
dbSNP: rs780518365
rs780518365
HNF1A
1 12 120992362 intron variant A/G snv 0.700 1.000 1 2019 2019
dbSNP: rs7903146
rs7903146
TCF7L2
93 0.554 0.680 10 112998590 intron variant C/G;T snv 0.700 1.000 1 2019 2019