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Select item 10568361.

rs1056836 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:38071060 (GRCh38)
2:38298203 (GRCh37)
Canonical SPDI:: NC_000002.12:38071059:G:A,NC_000002.12:38071059:G:C
Gene:: CYP1B1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Clinical significance:: benign,likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.4208903/45042 (ALFA)
C=0.1160122/839 (Korea4K)
C=0.1299127/238 (Korea1K)
C=0.148843/11527 (TOMMO)
C=0.4038101/2586 (1000Genomes_30X)
C=0.4178994/585447 (GnomAD_exomes)
C=0.466525/878 (HapMap)
C=0.4941505/73664 (GnomAD_genomes)
C=0.4945205/361 (PharmGKB)
C=0.4959718/39031 (PAGE_STUDY)
G=0.4966565/131460 (TOPMED)
HGVS:: NC_000002.12:g.38071060G>A, NC_000002.12:g.38071060G>C, NC_000002.11:g.38298203C>G, NC_000002.11:g.38298203C>A, NG_008386.2:g.10042C>T, NG_008386.2:g.10042C>G, NM_000104.4:c.1294C>T, NM_000104.4:c.1294C>G, NM_000104.3:c.1294C>T, NM_000104.3:c.1294C>G, NG_149745.1:g.237G>A, NG_149745.1:g.237G>C, NP_000095.2:p.Leu432Val

Supplemental Content

dbSNP