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: rs771063992
rs771063992
DNAJC21
0.827 0.240 5 34937431 stop gained C/T snv 2.8E-05 2.8E-05
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.700 0
dbSNP: rs771063992
rs771063992
DNAJC21
0.827 0.240 5 34937431 stop gained C/T snv 2.8E-05 2.8E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs771063992
rs771063992
DNAJC21
0.827 0.240 5 34937431 stop gained C/T snv 2.8E-05 2.8E-05
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		0.700 0
dbSNP: rs771063992
rs771063992
DNAJC21
0.827 0.240 5 34937431 stop gained C/T snv 2.8E-05 2.8E-05
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.700 0
dbSNP: rs771063992
rs771063992
DNAJC21
0.827 0.240 5 34937431 stop gained C/T snv 2.8E-05 2.8E-05
CUI: C0878638
Disease: Abnormality of the tongue
Abnormality of the tongue 		0.700 0
dbSNP: rs771063992
rs771063992
DNAJC21
0.827 0.240 5 34937431 stop gained C/T snv 2.8E-05 2.8E-05
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 0
dbSNP: rs771063992
rs771063992
DNAJC21
0.827 0.240 5 34937431 stop gained C/T snv 2.8E-05 2.8E-05
CUI: C0221217
Disease: Neck webbing
Neck webbing 		0.700 0