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: rs137853223
rs137853223
CSHL1 ; GH1 ; LOC112268204
4 0.851 0.160 17 63917337 missense variant C/T snv 7.0E-06 0.800 1.000 2 1997 2001
dbSNP: rs71640277
rs71640277
CSHL1 ; GH1 ; LOC112268204
1 1.000 0.120 17 63918016 splice donor variant C/G;T snv 0.700 0
dbSNP: rs797044450
rs797044450
CSHL1 ; GH1 ; LOC112268204
1 1.000 0.120 17 63918011 splice region variant A/C;G snv 0.700 0
dbSNP: rs863223306
rs863223306
CSHL1 ; GH1 ; LOC112268204
1 1.000 0.120 17 63917989 intron variant C/T snv 0.700 0
dbSNP: rs863223307
rs863223307
CSHL1 ; GH1 ; LOC112268204
1 1.000 0.120 17 63918012 splice region variant C/T snv 0.700 0
dbSNP: rs863223309
rs863223309
CSHL1 ; GH1 ; LOC112268204
1 1.000 0.120 17 63918138 splice acceptor variant T/A snv 0.700 0
dbSNP: rs863223310
rs863223310
CSHL1 ; GH1 ; LOC112268204
1 1.000 0.120 17 63918015 splice donor variant A/G snv 0.700 0