基因数据处理38之dbSnpId到omimId的映射表
发布时间:2020-12-14 01:47:17 所属栏目:大数据 来源:网络整理
导读: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 (hu
1.下载: 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 Description
1 omim_id.
2 The locus id the SNP is on
3 omim variation id.
4 locus symbol
5 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 1 671
102560 71 0003 ACTG1 P 332 A 1 11549200
102574 89 0001 ACTN3 R 577 * 1 1815739
102680 118 0001 ADD1 G 460 W 1 4961
102770 270 0001 AMPD1 Q 12 * 1 17602729
103720 125 0002 ADH2 R 369 C 1 2066702
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