Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1313319892
rs1313319892
1.000 1 151406306 stop gained G/A;T snv 7.0E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 13 1999 2017
dbSNP: rs1553212545
rs1553212545
1.000 1 151406046 stop gained G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 13 1999 2017
dbSNP: rs1553212626
rs1553212626
1.000 1 151406151 frameshift variant -/A delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 13 1999 2017
dbSNP: rs1553212978
rs1553212978
1.000 1 151406322 frameshift variant -/T delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 13 1999 2017
dbSNP: rs864321674
rs864321674
0.925 0.160 1 151406100 stop gained G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 13 1999 2017