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: rs104894828
rs104894828
GLA ; RPL36A-HNRNPH2
3 0.882 0.160 X 101398467 missense variant C/A;T snv 0.700 0
dbSNP: rs104894830
rs104894830
GLA ; RPL36A-HNRNPH2
2 0.925 0.160 X 101398483 missense variant T/C snv 0.700 0
dbSNP: rs104894846
rs104894846
GLA ; RPL36A-HNRNPH2
2 0.925 0.160 X 101398481 missense variant C/T snv 0.700 0
dbSNP: rs104894847
rs104894847
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
2 0.925 0.160 X 101407846 missense variant C/G snv 0.700 0
dbSNP: rs28935485
rs28935485
GLA ; RPL36A-HNRNPH2
3 0.925 0.160 X 101398534 missense variant G/C snv 0.700 0