rs1564062144, HNRNPK

N. diseases: 7
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.
Aplasia/Hypoplasia of the corpus callosum
8 1.000 9 83972190 splice acceptor variant C/T snv 0.700 0
Atrial Septal Defects
CUI: C0018817
Disease: Atrial Septal Defects
96 1.000 9 83972190 splice acceptor variant C/T snv 0.700 0
AU-KLINE SYNDROME
CUI: C4225274
Disease: AU-KLINE SYNDROME
13 1.000 9 83972190 splice acceptor variant C/T snv 0.700 0
Central hypotonia
CUI: C1842364
Disease: Central hypotonia
25 1.000 9 83972190 splice acceptor variant C/T snv 0.700 0
Intrauterine retardation
CUI: C1386048
Disease: Intrauterine retardation
56 1.000 9 83972190 splice acceptor variant C/T snv 0.700 0
Small for gestational age (disorder)
34 1.000 9 83972190 splice acceptor variant C/T snv 0.700 0
Ventricular Septal Defects
CUI: C0018818
Disease: Ventricular Septal Defects
87 1.000 9 83972190 splice acceptor variant C/T snv 0.700 0