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: rs1202430946
rs1202430946
IGHMBP2
17 0.827 0.080 11 68930251 non coding transcript exon variant C/A;T snv 1.4E-05 0.700 0
dbSNP: rs1555783467
rs1555783467
SLC52A3
6 0.882 0.120 20 761120 missense variant C/T snv 0.700 0
dbSNP: rs375454176
rs375454176
TDRKH
2 1.000 0.040 1 151776497 missense variant C/T snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs771785420
rs771785420
GAN
8 0.851 0.120 16 81357848 missense variant C/G;T snv 4.0E-06 0.700 0