Variant Gene dbSNP Most severe consequence Allele frequency in 1000 Genomes
12:103232156:G/T

PAH

rs535715056 3_prime_UTR_variant 0.00019968
12:103232178:TTAC/-

PAH

rs551502562 3_prime_UTR_variant 0.0059904
12:103232218:A/G

PAH

rs185081299 3_prime_UTR_variant 0.0013978
12:103232766:C/T

PAH

rs1801153 3_prime_UTR_variant 0.2925
12:103232809:T/C

PAH

rs375319584 3_prime_UTR_variant 0.0033946
12:103232874:C/T

PAH

rs569495604 3_prime_UTR_variant 0.00019968
12:103232934:C/A

PAH

rs372637021 3_prime_UTR_variant 0.0025959
12:103232951:CTTTA/-

PAH

rs794727086 coding_sequence_variant -
12:103232956:-/T

PAH

rs199475641 frameshift_variant -
12:103232972:G/T

PAH

rs76542238 missense_variant -
12:103232973:C/G

PAH

missense_variant -
12:103232981:A/G

PAH

missense_variant -
12:103232982:G/A

PAH

missense_variant -
12:103232994:C/A

PAH

stop_gained -
12:103232998:T/G

PAH

splice_acceptor_variant -
12:103233001:A/G

PAH

rs62509020 intron_variant -
12:103233011:A/G

PAH

rs62508635 intron_variant -
12:103233031:G/A

PAH

rs62509021 intron_variant 0.010583
12:103234172:A/T

PAH

rs62508650 intron_variant -
12:103234173:C/G

PAH

intron_variant -
12:103234174:T/C

PAH

rs62508649 intron_variant -
12:103234174:TTACTG/-

PAH

splice_donor_variant -
12:103234176:A/G

PAH

rs1799970 splice_donor_variant -
12:103234177:C/A

PAH

splice_donor_variant -
12:103234177:C/T

PAH

rs5030861 splice_donor_variant -
12:103234187:A/-

PAH

frameshift_variant -
12:103234192:G/A

PAH

missense_variant -
12:103234192:G/T

PAH

rs199475659 missense_variant -
12:103234194:-/A

PAH

frameshift_variant -
12:103234204:A/G

PAH

rs199475607 missense_variant -
12:103234207:T/G

PAH

rs794727047 missense_variant -
12:103234208:G/T

PAH

rs764974157 missense_variant -
12:103234211:G/-

PAH

frameshift_variant -
12:103234211:G/A

PAH

stop_gained -
12:103234215:A/G

PAH

rs59326968 synonymous_variant 0.0465
12:103234222:A/G

PAH

rs199475670 missense_variant -
12:103234222:A/T

PAH

stop_gained -
12:103234224:G/-

PAH

frameshift_variant -
12:103234229:C/T

PAH

rs199475621 missense_variant -
12:103234231:A/C

PAH

missense_variant -
12:103234231:A/G

PAH

rs199475696 missense_variant -
12:103234234:C/A

PAH

rs767075719 missense_variant -
12:103234237:T/C

PAH

rs752255985 missense_variant -
12:103234237:T/G

PAH

missense_variant -
12:103234240:G/T

PAH

missense_variant -
12:103234241:T/G

PAH

rs62644501 missense_variant -
12:103234243:T/C

PAH

missense_variant -
12:103234244:A/C

PAH

missense_variant -
12:103234244:A/G

PAH

rs62644471 missense_variant -
12:103234244:A/T

PAH

rs62644471 missense_variant -