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: rs121918118
rs121918118
GHRHR
3 0.882 0.120 7 30971183 missense variant T/A snv 2.4E-05 2.8E-05 0.800 1.000 5 1996 2003
dbSNP: rs121918119
rs121918119
GHRHR
1 1.000 7 30974112 missense variant T/G snv 8.0E-06 7.0E-06 0.800 1.000 5 1996 2003
dbSNP: rs121918120
rs121918120
GHRHR
1 1.000 7 30974052 missense variant C/A snv 2.0E-05 7.0E-06 0.800 1.000 5 1996 2003
dbSNP: rs121918121
rs121918121
GHRHR
1 1.000 7 30976439 missense variant A/G snv 4.0E-06 0.800 1.000 5 1996 2003
dbSNP: rs121918117
rs121918117
GHRHR
4 0.851 0.160 7 30969116 stop gained G/A;T snv 1.8E-04 0.700 0
dbSNP: rs200848306
rs200848306
GHRHR
1 1.000 7 30969879 missense variant G/A;T snv 8.0E-06; 8.0E-06 0.700 0
dbSNP: rs483352872
rs483352872 		1 1.000 7 62535490 intergenic variant A/G snv 0.700 0
dbSNP: rs606231412
rs606231412
GHRHR
1 1.000 7 30971170 missense variant T/C snv 0.700 0
dbSNP: rs606231413
rs606231413
GHRHR
1 1.000 7 30971993 missense variant C/A snv 0.700 0
dbSNP: rs774281185
rs774281185
GHRHR
1 1.000 7 30972025 missense variant C/T snv 4.0E-05 2.8E-05 0.700 0
dbSNP: rs797044449
rs797044449
CSHL1 ; GH1 ; LOC112268204
1 1.000 17 63917759 splice donor variant C/A;G snv 0.700 0
dbSNP: rs863223308
rs863223308
CSHL1 ; GH1 ; LOC112268204
1 1.000 17 63917755 splice region variant C/G;T snv 1.2E-05 0.700 0