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Select item 46801.

rs4680 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:19963748 (GRCh38)
22:19951271 (GRCh37)
Canonical SPDI:: NC_000022.11:19963747:G:A
Gene:: COMT (Varview), MIR4761 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Clinical significance:: benign,drug-response
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.4870715/145196 (ALFA)
A=0.2407895/183 (PRJEB37584)
A=0.2540717/156 (Vietnamese)
A=0.268559/492 (Korea1K)
G=0.275/11 (GENOME_DK)
A=0.2824343/2042 (Korea4K)
A=0.2849829/835 (KOREAN)
G=0.3095238/13 (Siberian)
A=0.3203089/24806 (TOMMO)
G=0.3494318/123 (SGDP_PRJ)
A=0.3495076/27472 (PAGE_STUDY)
A=0.3513228/664 (HapMap)
A=0.3692093/1849 (1000Genomes)
A=0.3700812/2370 (1000Genomes_30X)
A=0.378119/788 (HGDP_Stanford)
A=0.392638/1280 (PRJEB37766)
A=0.4203937/111274 (TOPMED)
A=0.4363296/233 (MGP)
A=0.4384745/65352 (GnomAD_genomes)
G=0.4506696/2019 (Estonian)
G=0.4583333/99 (Qatari)
G=0.4589041/134 (FINRISK)
G=0.4616667/277 (NorthernSweden)
A=0.4651163/40 (PRJEB36033)
A=0.4727464/55317 (ExAC)
G=0.4829659/482 (GoNL)
G=0.4878049/1880 (ALSPAC)
A=0.4970986/695078 (GnomAD_exomes)
G=0.4983819/1848 (TWINSUK)
G=0.4993211/1471 (PharmGKB)
HGVS:: NC_000022.11:g.19963748G>A, NC_000022.10:g.19951271G>A, NG_023326.2:g.58075C>T, NG_011526.1:g.27009G>A, NM_000754.4:c.472G>A, NM_000754.3:c.472G>A, NM_007310.3:c.322G>A, NM_007310.2:c.322G>A, NM_001362828.2:c.472G>A, NM_001362828.1:c.472G>A, NM_001135161.2:c.472G>A, NM_001135161.1:c.472G>A, NM_001135162.2:c.472G>A, NM_001135162.1:c.472G>A, NG_144958.1:g.323G>A, NP_000745.1:p.Val158Met, NP_009294.1:p.Val108Met, NP_001349757.1:p.Val158Met, NP_001128633.1:p.Val158Met, NP_001128634.1:p.Val158Met

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