Source: CURATED ×
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: rs10196867
rs10196867
CTNNA2
5 0.925 0.080 2 79751234 intron variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs147247472
rs147247472
AGBL4 ; AGBL4-IT1
5 0.925 0.080 1 49441901 intron variant G/A snv 7.3E-04 0.700 1.000 1 2019 2019
dbSNP: rs2133896
rs2133896
ANKS1B
5 0.925 0.080 12 99455122 intron variant G/T snv 7.6E-02 0.700 1.000 1 2019 2019
dbSNP: rs2288156
rs2288156
CCDC42
1 1.000 0.080 17 8741536 missense variant C/A;T snv 4.0E-06; 8.8E-02 0.700 1.000 1 2016 2016
dbSNP: rs4791746
rs4791746 		1 1.000 0.080 17 8723039 intergenic variant T/A;C snv 0.700 1.000 1 2016 2016