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: rs1114167358
rs1114167358
LIFR
1 1.000 0.120 5 38505920 frameshift variant CTAA/- delins 0.700 1.000 1 2017 2017
dbSNP: rs1555879360
rs1555879360
NRIP1
1 1.000 0.120 21 14967914 frameshift variant C/- delins 0.700 1.000 1 2017 2017
dbSNP: rs3729751
rs3729751
LIFR
1 1.000 0.120 5 38481601 missense variant G/A;T snv 1.1E-03; 1.5E-03 0.700 1.000 1 2017 2017
dbSNP: rs79040751
rs79040751
LIFR
1 1.000 0.120 5 38493734 missense variant G/A;C;T snv 4.0E-06; 8.0E-06; 2.1E-03 0.700 1.000 1 2017 2017
dbSNP: rs869320624
rs869320624
EMC1 ; EMC1-AS1
13 0.776 0.400 1 19220814 frameshift variant AAGG/- delins 1.4E-05 0.700 1.000 1 2017 2017
dbSNP: rs4244341
rs4244341
PAX2
1 1.000 0.120 10 100748820 intron variant T/G snv 0.73 0.010 1.000 1 2014 2014
dbSNP: rs755770046
rs755770046
SMAD4
1 1.000 0.120 18 51058421 missense variant A/C snv 0.010 < 0.001 1 2017 2017
dbSNP: rs779583608
rs779583608
SMAD4
1 1.000 0.120 18 51058424 missense variant A/C snv 0.010 < 0.001 1 2017 2017