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: rs1555354198
rs1555354198
SRP54
1.000 14 35007369 inframe deletion ACA/- delins
CUI: C4692625
Disease: SHWACHMAN-DIAMOND SYNDROME 1
SHWACHMAN-DIAMOND SYNDROME 1 		0.700 1.000 1 2017 2017