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: rs11038357
rs11038357
PRDM11
1 1.000 0.040 11 45216307 intron variant T/A;G snv 0.700 1.000 1 2018 2018
dbSNP: rs118039499
rs118039499
TMEM71
2 1.000 0.040 8 132759389 5 prime UTR variant A/C snv 1.4E-02 0.700 1.000 1 2018 2018
dbSNP: rs12138950
rs12138950
MICOS10 ; LOC105376817 ; LOC105376818 ; LOC105376819
3 0.925 0.040 1 19512621 intron variant A/C snv 5.4E-03 0.700 1.000 1 2018 2018
dbSNP: rs17477923
rs17477923
FAM227B
1 1.000 0.040 15 49418988 intron variant T/C snv 0.22 0.700 1.000 1 2018 2018
dbSNP: rs2046045
rs2046045
PDE8B
3 0.925 0.080 5 77239986 intron variant T/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs2983514
rs2983514
PDE10A
2 0.925 0.040 6 165636631 intron variant A/G snv 0.34 0.700 1.000 1 2018 2018
dbSNP: rs66760320
rs66760320
LINC01512
1 1.000 0.040 6 43938518 regulatory region variant C/T snv 0.28 0.700 1.000 1 2018 2018
dbSNP: rs8077245
rs8077245
LINC00511
1 1.000 0.040 17 72380036 intron variant G/T snv 0.63 0.700 1.000 1 2018 2018
dbSNP: rs925488
rs925488
PTCSC2
2 1.000 0.040 9 97784109 intron variant G/A snv 0.71 0.700 1.000 1 2018 2018