rs1554698878, HNRNPK

N. diseases: 4
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.
AU-KLINE SYNDROME
CUI: C4225274
Disease: AU-KLINE SYNDROME
13 0.925 9 83971976 stop gained G/A snv 0.700 0
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.925 9 83971976 stop gained G/A snv 0.700 1.000 30 1996 2018
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
350 0.925 9 83971976 stop gained G/A snv 0.700 1.000 30 1996 2018
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.925 9 83971976 stop gained G/A snv 0.700 1.000 30 1996 2018