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SNPs (single nucleotide polymorphism)

Basic Search

Search Type：

dbSNP rsid:   (e.g. rs161022335, rs407528697, rs161279544)

Or Gene symbol:   (e.g. D2HGDH, ABCB6, AAMDC)

Or Chrom location:   (e.g. 6:30050621, 13:42288512, 15:79787650-79787750)

Advanced Search

Minor Allele Frequency    (range: 0-0.5)

Consequence Type:

Gene Variant
  • Coding Variant
    • missense_variant
    • start_lost
    • stop_gained
    • stop_lost
    • stop_retained_variant
    • synonymous_variant
    • initiator_codon_variantn
  • Non-coding Variant
    • 5_prime_UTR_variant
    • 3_prime_UTR_variant
    • 5_prime_UTR_premature_start_codon_gain_variant
    • intron_variant
    • non_coding_transcript_exon_variant
  • Splice Variant
    • splice_acceptor_variant
    • splice_donor_variant
    • splice_region_variant
Intergenic Variant
  • upstream_gene_variant
  • downstream_gene_variant
  • intergenic_variant
Intragenic Variant
  • intragenic_variant