Hemochromatosis SNPdbe SNP TABLE

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dbSNP ID Sequence Type Amino acid change Position Effect Experimental evidence
rs149342416 NP_000401 Non-synonymous Arg-Ser 6 Disease causing freq
rs143662783 NP_000401 Non-synonymous Thr-Ile 17 Disease causing freq
rs148161858 NP_000401 Non-synonymous Arg-His 23 No effect cluster,freq,1000Genome
N/A Q30201 Non-synonymous Arg-Leu 26 No effect Not validated
rs2242956 NP_000401 Non-synonymous Met-Thr 35 No effect cluster
N/A Q30201 Non-synonymous Gly-Asp 43 Disease causing Not validated
rs28934889 NP_000401 Non-synonymous Val-Met 53 Disease causing cluster,freq,1000Genome
rs28934890 NP_000401 Non-synonymous Val-Met 59 No effect cluster
rs1799945 NP_000401 Non-synonymous His-Asp 63 Disease causing cluster,freq,1000Genome
rs1800730 NP_000401 Non-synonymous Ser-Cys 65 Disease causing cluster,freq,1000Genome
N/A Q30201 Non-synonymous Arg-Cys 66 Disease causing Not validated
N/A B990874 Non-synonymous Arg-Glu 66 No effect Not validated
rs139523708 NP_000401 Non-synonymous Arg-His 67 No effect Not validated
rs28934597 NP_000401 Non-synonymous Gly-Arg 93 Disease causing cluster
N/A B990874 Non-synonymous Val-Ala 100 No effect Not validated
N/A A001949 Non-synonymous Trp-Ala 103 No effect Not validated
rs28934596 NP_000401 Non-synonymous Ile-Thr 105 Disease causing cluster
N/A NP_000401 Non-synonymous Met-Thr 106 No effect Not validated
rs28934595 NP_000401 Non-synonymous Gln-His 127 Disease causing cluster
rs149662565 NP_000401 Non-synonymous Pro-Thr 160 No effect Not validated
rs145475682 NP_000401 Non-synonymous Ala-Ser 162 No effect freq
N/A B990874 Non-synonymous Trp-Ala 163 No effect Not validated
rs144170531 NP_000401 Non-synonymous Lys-Glu 166 No effect freq
rs146519482 NP_000401 Non-synonymous Glu-Gln 168 No effect Not validated
N/A Q30201 Non-synonymous Ala-Val 176 Disease causing Not validated
N/A NP_000401 Non-synonymous Leu-Pro 183 No effect Not validated
N/A B990874 Non-synonymous Pro-Val 188 No effect Not validated
rs4986950 NP_000401 Non-synonymous Thr-Ile 217 No effect cluster,freq
N/A Q30201 Non-synonymous Arg-Gly 224 Disease causing Not validated
rs144797937 NP_000401 Non-synonymous Arg-Trp 224 No effect freq
rs62625346 NP_000401 Non-synonymous Arg-Gln 224 No effect cluster,freq
N/A Q30201 Non-synonymous Tyr-His 230 No effect Not validated
rs140515012 NP_000401 Non-synonymous Pro-Ala 245 No effect Not validated
N/A Q30201 Non-synonymous Ala-Thr 248 No effect Not validated
rs150402693 NP_000401 Non-synonymous Phe-Leu 251 No effect Not validated
rs138176635 NP_000401 Non-synonymous Glu-Gly 252 No effect Not validated
N/A Q30201 Non-synonymous Val-Ala 256 No effect Not validated
rs143846467 NP_000401 Non-synonymous Asn-Ser 259 Disease causing Not validated
N/A Q30201 Non-synonymous Gly-Glu 275 No effect Not validated
rs140080192 NP_000401 Non-synonymous Glu-Lys 277 No effect cluster,freq,1000Genome
rs1800562 NP_000401 Non-synonymous Cys-Tyr 282 Disease causing cluster,freq,1000Genome
rs111033563 NP_000401 Non-synonymous Gln-Pro 283 Disease causing cluster
rs143175221 NP_000401 Non-synonymous Val-Ala 295 Disease causing freq
N/A Q30201 Non-synonymous Ser-Arg 311 No effect Not validated
rs147519426 NP_000401 Non-synonymous Val-Gly 315 Disease causing freq
rs141229562 NP_000401 Non-synonymous Val-Ile 318 No effect Not validated
rs150716212 NP_000401 Non-synonymous Ile-Thr 322 Disease causing Not validated
rs138993448 NP_000401 Non-synonymous Ile-Thr 327 No effect Not validated
rs111033558 NP_000401 Non-synonymous Arg-Met 330 Disease causing cluster
N/A Q30201 Non-synonymous Met-Val 339 No effect Not validated
rs146508927 NP_000401 Non-synonymous Arg-His 347 No effect freq
Table 1: List of all (unique) SNPs for HFE from SNPdbe. Query terms used were Q30201, NP_000401, and HFE. Only results for the human organism were selected. All the positions are adjusted to fit the Q30201 sequence. For a SNP to be "disease causing" the wild type had to have a residue conservation of over 40 or it had to be already listed as "disease hemochromatosis".

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