Source: CLINVAR

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: rs1555377234
rs1555377234
IRF2BPL
1.000 14 77025641 frameshift variant A/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 5 2000 2017
dbSNP: rs1555377234
rs1555377234
IRF2BPL
1.000 14 77025641 frameshift variant A/- delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 5 2000 2017
dbSNP: rs1555377234
rs1555377234
IRF2BPL
1.000 14 77025641 frameshift variant A/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 5 2000 2017