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Select item 48181.

rs4818 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 22:19963684 (GRCh38)
22:19951207 (GRCh37)
Canonical SPDI:: NC_000022.11:19963683:C:G,NC_000022.11:19963683:C:T
Gene:: COMT (Varview), MIR4761 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,synonymous_variant,coding_sequence_variant
Clinical significance:: benign,drug-response,uncertain-risk-allele
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.375486/18341 (ALFA)
G=0.180384/583 (PRJEB37766)
G=0.262221/20566 (PAGE_STUDY)
G=0.275/11 (GENOME_DK)
G=0.281921/21832 (TOMMO)
G=0.291667/63 (Qatari)
G=0.293254/1878 (1000Genomes_30X)
G=0.296925/1487 (1000Genomes)
G=0.31719/83957 (TOPMED)
G=0.322932/48135 (GnomAD_genomes)
G=0.327541/4260 (GoESP)
G=0.327815/99 (FINRISK)
G=0.332424/609 (Korea1K)
C=0.333333/12 (Siberian)
G=0.333482/1494 (Estonian)
G=0.333562/974 (KOREAN)
G=0.33573/2428 (Korea4K)
G=0.33917/40522 (ExAC)
G=0.355372/258 (PRJEB37584)
G=0.358333/215 (NorthernSweden)
G=0.359935/221 (Vietnamese)
C=0.380597/102 (SGDP_PRJ)
G=0.402958/1553 (ALSPAC)
G=0.404494/216 (MGP)
G=0.40982/409 (GoNL)
G=0.415858/1542 (TWINSUK)
C=0.428191/1288 (PharmGKB)
HGVS:: NC_000022.11:g.19963684C>G, NC_000022.11:g.19963684C>T, NC_000022.10:g.19951207C>G, NC_000022.10:g.19951207C>T, NG_023326.2:g.58139G>C, NG_023326.2:g.58139G>A, NG_011526.1:g.26945C>G, NG_011526.1:g.26945C>T, NM_000754.4:c.408C>G, NM_000754.4:c.408C>T, NM_000754.3:c.408C>G, NM_000754.3:c.408C>T, NM_007310.3:c.258C>G, NM_007310.3:c.258C>T, NM_007310.2:c.258C>G, NM_007310.2:c.258C>T, NM_001362828.2:c.408C>G, NM_001362828.2:c.408C>T, NM_001362828.1:c.408C>G, NM_001362828.1:c.408C>T, NM_001135161.2:c.408C>G, NM_001135161.2:c.408C>T, NM_001135161.1:c.408C>G, NM_001135161.1:c.408C>T, NM_001135162.2:c.408C>G, NM_001135162.2:c.408C>T, NM_001135162.1:c.408C>G, NM_001135162.1:c.408C>T, NG_144958.1:g.259C>G, NG_144958.1:g.259C>T

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