Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs559979281
rs559979281
CLASP1 ; RNU4ATAC ; LOC107985942
0.742 0.440 2 121530892 non coding transcript exon variant C/G;T snv 7.7E-06; 2.3E-05; 3.5E-04
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 0
dbSNP: rs587784347
rs587784347
PLA2G6
0.742 0.280 22 38113561 missense variant G/A snv 8.0E-06
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 0
dbSNP: rs753317536
rs753317536
EVC
0.790 0.160 4 5719239 intron variant G/A;C snv 8.0E-06; 4.0E-06
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 0
dbSNP: rs776720232
rs776720232
PGAP3
0.827 0.240 17 39673099 missense variant T/C;G snv 4.2E-06
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 0
dbSNP: rs794727931
rs794727931
ALG8
0.790 0.240 11 78112692 missense variant A/C snv
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 0
dbSNP: rs80338701
rs80338701
PMM2
0.776 0.360 16 8811088 stop gained C/A;T snv 4.4E-05; 5.4E-06
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 0
dbSNP: rs80338945
rs80338945
GJB2
0.695 0.440 13 20189313 missense variant A/G snv 6.4E-04 6.4E-04
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 0
dbSNP: rs863225422
rs863225422
CLASP1 ; RNU4ATAC ; LOC107985942
0.742 0.440 2 121530927 non coding transcript exon variant G/A snv 4.6E-05; 7.7E-06 4.9E-05
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 0
dbSNP: rs886039792
rs886039792
TXNDC15
0.807 0.280 5 134874531 splice donor variant G/A snv
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 0
dbSNP: rs886039909
rs886039909
HSPG2
0.882 0.120 1 21864095 splice region variant C/T snv
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 0
dbSNP: rs886041065
rs886041065
ASXL2
0.677 0.600 2 25743913 frameshift variant G/- delins
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 0
dbSNP: rs886041093
rs886041093
EHMT1
0.827 0.280 9 137815998 missense variant G/A snv
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 0
dbSNP: rs886043994
rs886043994
ASXL1
0.776 0.400 20 32433355 frameshift variant GT/- delins
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 0
dbSNP: rs912001256
rs912001256
SCN4A
0.851 0.240 17 63947062 stop gained G/A snv
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 0