Disease: Glycine measurement
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1047891
CPS1
0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 34
rs715
CPS1
1.000 0.040 2 210678331 3 prime UTR variant T/C snv 0.28 13
rs12613336 2 210704675 regulatory region variant T/C snv 0.19 6
rs10172053 2 210779923 intergenic variant T/C;G snv 2
rs1657863 2 210995002 intergenic variant T/G snv 0.52 2
rs4310999 2 210885574 intergenic variant G/A snv 0.21 2
rs4673546 2 210700968 intergenic variant C/T snv 0.15 2
rs4947534
PSPH
7 56011401 3 prime UTR variant T/A;C snv 2
rs651797 2 210992001 intergenic variant G/A snv 0.61 2
rs8059153
PKD1L2
16 81112070 non coding transcript exon variant T/C snv 0.90 2