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ClinVar

From SNPedia

70015 ClinVar snps


http://www.ncbi.nlm.nih.gov/clinvar/

CLNSIG # ClinVar Definition
0 Uncertain
1 Not provided
2 Benign
3 Likely benign
4 Likely pathogenic
5 Pathogenic
6 Drug-response related
7 Histocompatibility-related
255 Other (conflicts, flips, etc)


45738 ClinVar 5 snps

14289 ClinVar 4 snps

647 ClinVar 3 snps

1175 ClinVar 2 snps

1982 ClinVar 1 snps

3513 ClinVar 255 snps


2343 ClinVar 7 snps

70015 ClinVar snps

sourced from ftp://ftp.ncbi.nlm.nih.gov/pub/clinvar/vcf_GRCh38/clinvar.vcf.gz

ClinVar/Reports

http://www.ncbi.nlm.nih.gov/projects/SNP/docs/rs_attributes.html