1.下载：
首先收到【2】，来源是【2】
【1】中有描述：

You can also get those SNPs with an OMIM ID number by downloading from the dbSNP FTP site: the OmimVarLocusIdSNP table contains the information you need for your organisim of interest (human, in this case). This table is located in your organism’s organism_data directory on the dbSNP FTP site.Column definitions for this table are as follows:Column Description1 omim_id.2 The locus id the SNP is on3 omim variation id.4 locus symbol5 Amino acid using the contig reference allele.6 Amino acid position in the protein.7 Amino acid of the snp variance.8 var class (used for internal dbSNP processing)9 snp_id (rs#)Below is an extract from the OmimVarLocusIdSNP table, showing data arranged in columns from left to right in the order mentioned above:100650 217 0001 ALDH2 E 487 K 1 671102560 71 0003 ACTG1 P 332 A 1 11549200102574 89 0001 ACTN3 R 577 * 1 1815739102680 118 0001 ADD1 G 460 W 1 4961102770 270 0001 AMPD1 Q 12 * 1 17602729103720 125 0002 ADH2 R 369 C 1 2066702

2.下载地址：
ftp://ftp.ncbi.nlm.nih.gov/snp/organisms/human_9606/database/organism_data/OmimVarLocusIdSNP.bcp.gz

最新版没解决

参考：
【1】http://www.ncbi.nlm.nih.gov/books/NBK44379/#Search.Finding_Records_with_OMIM_DataLin
【2】https://www.biostars.org/p/5636/

附录：

这里写代码片