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: rs478093
rs478093
PHGDH ; LOC105378937
3 1.000 0.040 1 119712503 5 prime UTR variant A/G snv 0.73 0.700 1.000 1 2013 2013
dbSNP: rs742642
rs742642
CDKAL1
3 1.000 0.080 6 20664850 intron variant G/A snv 0.21 0.700 1.000 1 2014 2014
dbSNP: rs7578326
rs7578326
LOC646736
7 0.882 0.080 2 226155937 TF binding site variant A/G snv 0.36 0.700 1.000 1 2016 2016
dbSNP: rs174541
rs174541
FADS2
8 1.000 0.080 11 61798436 intron variant T/C snv 0.29 0.700 1.000 1 2013 2013
dbSNP: rs12454712
rs12454712
BCL2
9 0.925 0.120 18 63178651 intron variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs715
rs715
CPS1
13 1.000 0.040 2 210678331 3 prime UTR variant T/C snv 0.28 0.700 1.000 1 2013 2013
dbSNP: rs10830963
rs10830963
MTNR1B
27 0.776 0.400 11 92975544 intron variant C/G snv 0.22 0.700 1.000 1 2014 2014