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基因数据处理38之dbSnpId到omimId的映射表

发布时间:2021-03-09 10:48:28 所属栏目:资源 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 (

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 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

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:

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