Gene: RPL36A-HNRNPH2 ×
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: rs199473684
rs199473684
GLA ; RPL36A-HNRNPH2
3 0.925 0.160 X 101399747 3 prime UTR variant C/T snv 0.700 1.000 13 2002 2017
dbSNP: rs28935197
rs28935197
GLA ; RPL36A-HNRNPH2
10 0.776 0.280 X 101398942 missense variant T/C snv 5.5E-06 0.700 1.000 11 1993 2017
dbSNP: rs727504348
rs727504348
GLA ; RPL36A-HNRNPH2
2 0.925 0.160 X 101397982 missense variant C/T snv 0.700 1.000 3 1995 2007
dbSNP: rs104894833
rs104894833
GLA ; RPL36A-HNRNPH2
11 0.776 0.280 X 101403984 missense variant C/G snv 1.2E-04 1.9E-05 0.010 1.000 1 2016 2016
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
8 0.807 0.160 X 101401752 missense variant C/G;T snv 5.5E-04 0.010 1.000 1 2015 2015
dbSNP: rs397515871
rs397515871
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
1 1.000 0.040 X 101407834 missense variant A/T snv 0.010 1.000 1 2012 2012
dbSNP: rs398123226
rs398123226
GLA ; RPL36A-HNRNPH2
3 0.882 0.160 X 101398403 missense variant G/C;T snv 0.010 1.000 1 2017 2017