Gene: ITIH1 ×
Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1042779
rs1042779
ITIH1
4 0.882 0.040 3 52786995 missense variant A/G snv 0.40 0.42 0.800 1.000 1 2009 2009
dbSNP: rs2302417
rs2302417
ITIH1
1 1.000 0.040 3 52780240 non coding transcript exon variant T/A snv 0.44; 3.1E-03; 1.5E-04; 1.0E-05 0.42 0.700 1.000 2 2017 2019
dbSNP: rs2710323
rs2710323
ITIH1
7 0.851 0.080 3 52781889 intron variant T/C snv 0.49 0.54 0.700 1.000 1 2013 2013