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: rs753611141
rs753611141
PMPCA
14 0.827 0.280 9 136418847 missense variant G/A;T snv 2.4E-05; 4.0E-06 0.700 0
dbSNP: rs768643552
rs768643552
PMPCA
13 0.851 0.240 9 136418630 missense variant G/A;C snv 4.0E-06 0.700 0
dbSNP: rs1215288938
rs1215288938
NPHP1
1 1.000 0.040 2 110144533 stop gained A/C;G snv 4.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs547352656
rs547352656
NPHP1
1 1.000 0.040 2 110131733 stop gained G/A snv 8.0E-06 2.1E-05 0.010 1.000 1 2000 2000
dbSNP: rs587777353
rs587777353
PAM16 ; GLIS2
3 0.882 0.120 16 4335060 missense variant T/C snv 0.010 1.000 1 2016 2016
dbSNP: rs955853011
rs955853011
ZNF253
2 0.925 0.120 19 19891767 missense variant T/C snv 0.010 1.000 1 2016 2016