rs1426488816, PLAA

N. diseases: 9
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Claw hand
CUI: C0221373
Disease: Claw hand
3 0.827 0.160 9 26913948 splice acceptor variant C/T snv 8.0E-06 0.700 0
Combined immunodeficiency
CUI: C0494261
Disease: Combined immunodeficiency
11 0.827 0.160 9 26913948 splice acceptor variant C/T snv 8.0E-06 0.700 0
Ectrodactyly
CUI: C0265554
Disease: Ectrodactyly
2 0.827 0.160 9 26913948 splice acceptor variant C/T snv 8.0E-06 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.827 0.160 9 26913948 splice acceptor variant C/T snv 8.0E-06 0.700 0
Growth delay
CUI: C0456070
Disease: Growth delay
40 0.827 0.160 9 26913948 splice acceptor variant C/T snv 8.0E-06 0.700 0
Lymphadenopathy
CUI: C0497156
Disease: Lymphadenopathy
5 0.827 0.160 9 26913948 splice acceptor variant C/T snv 8.0E-06 0.700 0
Lymphoproliferative Disorders
CUI: C0024314
Disease: Lymphoproliferative Disorders
14 0.827 0.160 9 26913948 splice acceptor variant C/T snv 8.0E-06 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.827 0.160 9 26913948 splice acceptor variant C/T snv 8.0E-06 0.700 0
Split foot
CUI: C0432028
Disease: Split foot
2 0.827 0.160 9 26913948 splice acceptor variant C/T snv 8.0E-06 0.700 0