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: rs142336618
rs142336618
GMPPB
5 0.827 0.120 3 49723648 missense variant C/G snv 4.5E-06; 7.0E-04 5.3E-04 0.800 1.000 7 2013 2017
dbSNP: rs202160208
rs202160208
GMPPB
9 0.827 0.160 3 49722056 missense variant C/T snv 2.9E-04 1.8E-04 0.800 1.000 6 2013 2017
dbSNP: rs761714818
rs761714818
GMPPB
3 0.882 3 49722343 missense variant A/G snv 6.4E-05 4.2E-05 0.800 1.000 6 2013 2017
dbSNP: rs142908436
rs142908436
GMPPB
4 0.851 0.120 3 49722057 missense variant G/A;T snv 1.0E-04; 1.2E-05 0.800 1.000 5 2013 2017
dbSNP: rs397509424
rs397509424
GMPPB
1 1.000 3 49723663 missense variant G/A snv 0.800 1.000 4 2013 2017
dbSNP: rs875989850
rs875989850
GMPPB
1 1.000 3 49722239 missense variant C/T snv 1.4E-05 0.800 1.000 4 2013 2017
dbSNP: rs199922550
rs199922550
GMPPB ; RNF123
3 0.882 3 49721847 missense variant C/T snv 6.0E-05 4.9E-05 0.800 1.000 3 2013 2016
dbSNP: rs771861177
rs771861177
GMPPB ; RNF123
3 0.882 3 49721765 missense variant C/T snv 3.7E-05 1.4E-05 0.800 1.000 1 2017 2017
dbSNP: rs559784211
rs559784211
GMPPB ; RNF123
1 1.000 3 49721882 missense variant A/G snv 1.6E-05 4.2E-05 0.700 1.000 4 2013 2017
dbSNP: rs781114909
rs781114909
GMPPB ; RNF123
1 1.000 3 49721869 missense variant G/A;T snv 1.6E-05; 4.0E-06 0.700 1.000 4 2013 2017
dbSNP: rs397509422
rs397509422
GMPPB ; RNF123
4 0.851 0.080 3 49721835 missense variant C/G;T snv 4.0E-06; 7.6E-05 0.700 1.000 3 2013 2015
dbSNP: rs145564018
rs145564018
GMPPB
3 0.882 3 49722971 splice donor variant C/T snv 1.4E-05 0.700 1.000 2 2013 2015
dbSNP: rs1064796834
rs1064796834
GMPPB ; RNF123
1 1.000 3 49721817 missense variant C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs145535498
rs145535498
GMPPB
1 1.000 3 49722979 missense variant G/A;C snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs1553691918
rs1553691918
GMPPB
3 0.882 3 49722698 frameshift variant GT/- delins 0.700 0
dbSNP: rs1553691975
rs1553691975
GMPPB
3 0.882 3 49723007 frameshift variant -/CT delins 0.700 0
dbSNP: rs397509425
rs397509425
GMPPB
4 0.882 3 49722604 missense variant G/A snv 3.6E-05 1.4E-05 0.700 0
dbSNP: rs397509426
rs397509426
GMPPB
7 0.882 0.080 3 49723632 missense variant G/A snv 8.0E-05 7.0E-06 0.700 0
dbSNP: rs756682220
rs756682220
GMPPB
1 1.000 3 49722039 missense variant G/A snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs763971677
rs763971677
GMPPB
3 0.882 3 49722126 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs875989851
rs875989851
GMPPB
1 1.000 3 49723066 missense variant G/A snv 0.700 0