Gene: GLA ×
Source: CLINVAR ×
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: rs104894829
rs104894829
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
1 1.000 0.160 X 101407773 stop gained C/T snv 0.700 0
dbSNP: rs104894839
rs104894839
GLA ; RPL36A-HNRNPH2
1 1.000 0.160 X 101398508 stop gained C/A;T snv 0.700 0
dbSNP: rs104894842
rs104894842
GLA ; RPL36A-HNRNPH2
1 1.000 0.160 X 101398079 stop gained C/T snv 0.700 0
dbSNP: rs104894849
rs104894849
GLA ; RPL36A-HNRNPH2
1 1.000 0.160 X 101398004 stop gained A/G;T snv 5.5E-06 0.700 0
dbSNP: rs1057516429
rs1057516429
GLA ; RPL36A-HNRNPH2
1 1.000 0.160 X 101403936 stop gained T/A snv 0.700 0
dbSNP: rs1057519609
rs1057519609
GLA ; RPL36A-HNRNPH2
1 1.000 0.160 X 101397950 inframe deletion AAG/- delins 0.700 0
dbSNP: rs1060500747
rs1060500747
GLA ; RPL36A-HNRNPH2
1 1.000 0.160 X 101398851 stop gained C/T snv 0.700 0
dbSNP: rs1555985002
rs1555985002
GLA ; RPL36A-HNRNPH2
1 1.000 0.160 X 101398520 frameshift variant -/T delins 0.700 0
dbSNP: rs1555985091
rs1555985091
GLA ; RPL36A-HNRNPH2
1 1.000 0.160 X 101398799 frameshift variant -/C delins 0.700 0
dbSNP: rs1555985814
rs1555985814
GLA ; RPL36A-HNRNPH2
1 1.000 0.160 X 101401703 missense variant A/C snv 0.700 0
dbSNP: rs1555985827
rs1555985827
GLA ; RPL36A-HNRNPH2
1 1.000 0.160 X 101401723 stop gained G/A;T snv 0.700 0
dbSNP: rs1555986305
rs1555986305
GLA ; RPL36A-HNRNPH2
1 1.000 0.160 X 101403915 missense variant G/A snv 0.700 0
dbSNP: rs1555987175
rs1555987175
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
1 1.000 0.160 X 101407831 frameshift variant -/ACGAGGGCCAGGAA delins 0.700 0
dbSNP: rs1569302697
rs1569302697
GLA ; RPL36A-HNRNPH2
1 1.000 0.160 X 101398023 inframe deletion TCCTGCCGGTTTATC/- delins 0.700 0
dbSNP: rs1569303030
rs1569303030
GLA ; RPL36A-HNRNPH2
1 1.000 0.160 X 101398506 frameshift variant G/- del 0.700 0
dbSNP: rs387906483
rs387906483
GLA ; RPL36A-HNRNPH2
1 1.000 0.160 X 101403809 splice donor variant A/C snv 0.700 0
dbSNP: rs398123206
rs398123206
GLA ; RPL36A-HNRNPH2
1 1.000 0.160 X 101403986 splice acceptor variant C/A;G snv 0.700 0
dbSNP: rs398123228
rs398123228
GLA ; RPL36A-HNRNPH2
1 1.000 0.160 X 101398395 missense variant C/T snv 0.700 0
dbSNP: rs727504773
rs727504773
GLA ; RPL36A-HNRNPH2
1 1.000 0.160 X 101398565 splice acceptor variant TAACTG/AAAGTTGCC delins 0.700 0
dbSNP: rs797044499
rs797044499
GLA ; RPL36A-HNRNPH2
1 1.000 0.160 X 101398569 splice acceptor variant T/A;C snv 0.700 0
dbSNP: rs869025435
rs869025435
GLA ; RPL36A-HNRNPH2
1 1.000 0.160 X 101398546 frameshift variant G/- delins 0.700 0
dbSNP: rs869312316
rs869312316
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
1 1.000 0.160 X 101407850 frameshift variant AAGCG/- delins 0.700 0
dbSNP: rs869312396
rs869312396
GLA ; RPL36A-HNRNPH2
1 1.000 0.160 X 101398837 missense variant T/G snv 0.700 0
dbSNP: rs876661347
rs876661347
GLA ; RPL36A-HNRNPH2
1 1.000 0.160 X 101397959 frameshift variant AGGATTACAGGCCACT/- del 0.700 0
dbSNP: rs879254022
rs879254022
GLA ; RPL36A-HNRNPH2
1 1.000 0.160 X 101398879 stop gained C/T snv 0.700 0