Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1555354198
rs1555354198
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
dbSNP: rs1555354200
rs1555354200
1.000 14 35007370 missense variant A/G snv
CUI: C4692625
Disease: SHWACHMAN-DIAMOND SYNDROME 1
SHWACHMAN-DIAMOND SYNDROME 1
0.700 1.000 1 2017 2017
dbSNP: rs1555354750
rs1555354750
1.000 14 35013386 missense variant G/A snv
CUI: C4692625
Disease: SHWACHMAN-DIAMOND SYNDROME 1
SHWACHMAN-DIAMOND SYNDROME 1
0.700 1.000 1 2017 2017