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: rs57246956
rs57246956
0.882 0.080 19 855649 missense variant G/A;T snv
Neutropenia, Severe Congenital, Autosomal Dominant 1
Hemic and Lymphatic Diseases 0.800 1.000 16 2000 2015
dbSNP: rs137854447
rs137854447
0.925 0.040 19 852990 missense variant C/A;G;T snv
Neutropenia, Severe Congenital, Autosomal Dominant 1
Hemic and Lymphatic Diseases 0.800 1.000 15 1999 2016
dbSNP: rs137854450
rs137854450
0.882 0.080 19 855574 stop gained C/A;T snv
Neutropenia, Severe Congenital, Autosomal Dominant 1
Hemic and Lymphatic Diseases 0.800 1.000 14 2000 2013
dbSNP: rs137854448
rs137854448
0.925 0.040 19 855613 missense variant C/T snv
Neutropenia, Severe Congenital, Autosomal Dominant 1
Hemic and Lymphatic Diseases 0.800 1.000 13 2000 2013
dbSNP: rs137854451
rs137854451
0.925 0.080 19 856000 missense variant G/A snv
Neutropenia, Severe Congenital, Autosomal Dominant 1
Hemic and Lymphatic Diseases 0.800 1.000 13 2000 2013
dbSNP: rs28931611
rs28931611
0.925 0.080 19 853019 missense variant T/C snv
Neutropenia, Severe Congenital, Autosomal Dominant 1
Hemic and Lymphatic Diseases 0.800 1.000 13 2000 2013
dbSNP: rs1057520110
rs1057520110
1.000 0.040 19 852978 missense variant C/T snv
Neutropenia, Severe Congenital, Autosomal Dominant 1
Hemic and Lymphatic Diseases 0.700 1.000 13 2000 2013
dbSNP: rs137854445
rs137854445
0.925 0.040 19 856019 missense variant G/A;C snv
Neutropenia, Severe Congenital, Autosomal Dominant 1
Hemic and Lymphatic Diseases 0.700 1.000 13 2000 2013
dbSNP: rs137854449
rs137854449
1.000 0.040 19 853338 missense variant G/A;T snv
Neutropenia, Severe Congenital, Autosomal Dominant 1
Hemic and Lymphatic Diseases 0.700 1.000 13 2000 2013
dbSNP: rs1396230082
rs1396230082
1.000 0.040 19 852882 missense variant C/A;T snv 4.5E-06; 4.5E-06
Neutropenia, Severe Congenital, Autosomal Dominant 1
Hemic and Lymphatic Diseases 0.700 1.000 13 2000 2013
dbSNP: rs1555710077
rs1555710077
1.000 0.040 19 855974 missense variant C/G snv
Neutropenia, Severe Congenital, Autosomal Dominant 1
Hemic and Lymphatic Diseases 0.700 1.000 13 2000 2013
dbSNP: rs201729066
rs201729066
1.000 0.040 19 855588 missense variant G/A;T snv 1.3E-05
Neutropenia, Severe Congenital, Autosomal Dominant 1
Hemic and Lymphatic Diseases 0.700 1.000 13 2000 2013
dbSNP: rs201788817
rs201788817
1.000 0.040 19 855693 missense variant G/A snv 1.6E-05 7.0E-06
Neutropenia, Severe Congenital, Autosomal Dominant 1
Hemic and Lymphatic Diseases 0.700 1.000 13 2000 2013
dbSNP: rs878855315
rs878855315
1.000 0.040 19 853020 missense variant G/T snv
Neutropenia, Severe Congenital, Autosomal Dominant 1
Hemic and Lymphatic Diseases 0.700 1.000 13 2000 2013
dbSNP: rs878855319
rs878855319
1.000 0.040 19 852948 missense variant T/C snv
Neutropenia, Severe Congenital, Autosomal Dominant 1
Hemic and Lymphatic Diseases 0.700 1.000 13 2000 2013
dbSNP: rs878855320
rs878855320
0.925 0.040 19 852945 missense variant C/A;T snv
Neutropenia, Severe Congenital, Autosomal Dominant 1
Hemic and Lymphatic Diseases 0.700 1.000 13 2000 2013
dbSNP: rs879253882
rs879253882
0.925 0.040 19 855799 splice region variant G/A snv
Neutropenia, Severe Congenital, Autosomal Dominant 1
Hemic and Lymphatic Diseases 0.700 1.000 3 1999 2013
dbSNP: rs1555710005
rs1555710005
0.925 0.040 19 855795 splice donor variant G/A;C snv
Neutropenia, Severe Congenital, Autosomal Dominant 1
Hemic and Lymphatic Diseases 0.700 1.000 2 1999 2013
dbSNP: rs797045009
rs797045009
1.000 0.040 19 855758 stop gained C/A snv
Neutropenia, Severe Congenital, Autosomal Dominant 1
Hemic and Lymphatic Diseases 0.700 1.000 1 2007 2007
dbSNP: rs1064793108
rs1064793108
1.000 0.040 19 853288 missense variant T/C snv
Neutropenia, Severe Congenital, Autosomal Dominant 1
Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1131691520
rs1131691520
0.925 0.040 19 853395 missense variant A/T snv
Neutropenia, Severe Congenital, Autosomal Dominant 1
Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1131691882
rs1131691882
1.000 0.040 19 852965 missense variant C/T snv
Neutropenia, Severe Congenital, Autosomal Dominant 1
Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs201139487
rs201139487
1.000 0.040 19 855967 missense variant G/A snv 4.0E-06 7.0E-06
Neutropenia, Severe Congenital, Autosomal Dominant 1
Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs387906553
rs387906553
0.827 0.120 19 853022 missense variant G/A;C snv 1.2E-05
Neutropenia, Severe Congenital, Autosomal Dominant 1
Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs745455816
rs745455816
1.000 0.040 19 853345 missense variant G/A;T snv 4.2E-06
Neutropenia, Severe Congenital, Autosomal Dominant 1
Hemic and Lymphatic Diseases 0.700 0