KNG1, kininogen 1, 3827

N. diseases: 279; N. variants: 24
Source: ALL
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: rs797044429
rs797044429
1.000 0.040 3 186741888 frameshift variant A/- delins
High molecular weight kininogen deficiency
Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs797044430
rs797044430
1.000 0.040 3 186741608 frameshift variant -/C delins
High molecular weight kininogen deficiency
Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs869320718
rs869320718
1.000 0.040 3 186740984 intron variant TTGTTGTTGTTGTTGTTTGTTTTTTGT/GGTGGTGGTGGTGGTGGTTTGTTTTTGG delins
High molecular weight kininogen deficiency
Hemic and Lymphatic Diseases 0.700 0