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ClinVar

From SNPedia

41546 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)


30308 ClinVar 5 snps

7581 ClinVar 4 snps

114 ClinVar 3 snps

383 ClinVar 2 snps

1813 ClinVar 1 snps

1087 ClinVar 255 snps


1 ClinVar 7 snps

41546 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