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: rs121908525
rs121908525
AGXT
7 0.790 0.160 2 240875159 missense variant T/C snv 4.4E-05 5.6E-05 0.010 1.000 1 2004 2004
dbSNP: rs796052077
rs796052077
GRHPR
1 1.000 0.160 9 37422747 5 prime UTR variant GC/AT mnv 0.700 0
dbSNP: rs1554746094
rs1554746094
GRHPR
1 1.000 0.160 9 37422751 start lost A/G;T snv 0.700 0
dbSNP: rs1554746097
rs1554746097
GRHPR
1 1.000 0.160 9 37422752 start lost T/G snv 0.700 0
dbSNP: rs180177311
rs180177311
GRHPR
1 1.000 0.160 9 37422795 frameshift variant A/- del 0.700 0
dbSNP: rs180177319
rs180177319
GRHPR
1 1.000 0.160 9 37424843 splice acceptor variant A/G snv 0.700 1.000 3 2003 2015
dbSNP: rs80356708
rs80356708
GRHPR
3 0.882 0.160 9 37424862 frameshift variant G/- delins 0.700 1.000 5 1999 2008
dbSNP: rs180177304
rs180177304
GRHPR
1 1.000 0.160 9 37424863 stop gained G/A snv 7.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs751101495
rs751101495
GRHPR
1 1.000 0.160 9 37424911 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs1554746565
rs1554746565
GRHPR
1 1.000 0.160 9 37424948 frameshift variant TG/- delins 0.700 0
dbSNP: rs180177305
rs180177305
GRHPR
1 1.000 0.160 9 37424964 missense variant T/C snv 8.1E-06 0.700 0
dbSNP: rs1244822375
rs1244822375
GRHPR
1 1.000 0.160 9 37424976 splice donor variant G/C;T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs1057517398
rs1057517398
GRHPR
1 1.000 0.160 9 37424977 splice donor variant T/G snv 0.700 0
dbSNP: rs1554746793
rs1554746793
GRHPR
1 1.000 0.160 9 37425920 splice acceptor variant AG/- del 0.700 0
dbSNP: rs1057517238
rs1057517238
GRHPR
1 1.000 0.160 9 37425932 frameshift variant -/A delins 0.700 0
dbSNP: rs672601351
rs672601351
GRHPR
1 1.000 0.160 9 37425953 frameshift variant TG/- delins 0.700 0
dbSNP: rs796052078
rs796052078
GRHPR
1 1.000 0.160 9 37425994 missense variant G/A;T snv 4.0E-06 0.700 0
dbSNP: rs796052081
rs796052081
GRHPR
1 1.000 0.160 9 37426534 splice acceptor variant AGT/- delins 0.700 0
dbSNP: rs119490108
rs119490108
GRHPR
2 0.925 0.160 9 37426545 stop gained C/T snv 1.4E-05 0.700 0
dbSNP: rs180177307
rs180177307
GRHPR
1 1.000 0.160 9 37426587 stop gained G/A;T snv 4.0E-06 0.700 1.000 2 2007 2015
dbSNP: rs1554746962
rs1554746962
GRHPR
1 1.000 0.160 9 37426600 frameshift variant -/TACTTACCACCTGC delins 0.700 0
dbSNP: rs180177308
rs180177308
GRHPR
1 1.000 0.160 9 37426624 frameshift variant G/- delins 0.700 0
dbSNP: rs180177309
rs180177309
GRHPR
1 1.000 0.160 9 37426653 splice region variant AAGT/- delins 2.8E-05 7.0E-06 0.700 1.000 1 2003 2003
dbSNP: rs1057516299
rs1057516299
GRHPR
1 1.000 0.160 9 37426653 frameshift variant A/- delins 0.700 0
dbSNP: rs779208888
rs779208888
GRHPR
1 1.000 0.160 9 37428483 splice acceptor variant G/A snv 4.0E-06 0.700 0