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: rs796052686
rs796052686
KCTD7
22 0.776 0.280 7 66638394 missense variant G/A snv 1.2E-05 0.700 0
dbSNP: rs775011495
rs775011495
GLDN
5 0.925 0.040 15 51404403 stop gained G/A snv 1.6E-05 7.0E-06 0.700 0
dbSNP: rs781417096
rs781417096
RARS2
9 0.807 0.200 6 87514995 frameshift variant T/- delins 1.6E-05 7.0E-06 0.700 0
dbSNP: rs150168522
rs150168522
COL6A2
4 0.925 0.160 21 46132367 missense variant G/A;C snv 4.9E-05; 2.9E-05 0.700 0
dbSNP: rs752298579
rs752298579
TANGO2
48 0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 0.700 0
dbSNP: rs368313959
rs368313959
OTUD6B
8 0.851 0.080 8 91078383 stop gained C/T snv 1.6E-04 1.0E-04 0.700 0
dbSNP: rs772887102
rs772887102
RARS2
9 0.807 0.200 6 87548623 missense variant A/C snv 2.2E-04 2.8E-05 0.700 0