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Select item 18012801.

rs1801280 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 8:18400344 (GRCh38)
8:18257854 (GRCh37)
Canonical SPDI:: NC_000008.11:18400343:T:A,NC_000008.11:18400343:T:C
Gene:: NAT2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: benign,drug-response
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.423703/93352 (ALFA)
C=0.012526/970 (TOMMO)
C=0.019105/35 (Korea1K)
C=0.019165/56 (KOREAN)
C=0.021288/154 (Korea4K)
C=0.02904/23 (PRJEB37584)
C=0.063725/39 (Vietnamese)
C=0.202247/72 (PharmGKB)
C=0.27439/90 (HapMap)
C=0.284355/22112 (PAGE_STUDY)
C=0.292732/1466 (1000Genomes)
C=0.299813/1920 (1000Genomes_30X)
C=0.357143/405 (Daghestan)
T=0.362903/90 (SGDP_PRJ)
T=0.363636/16 (Siberian)
C=0.369625/97836 (TOPMED)
C=0.384624/46561 (ExAC)
C=0.425/17 (GENOME_DK)
C=0.438765/1691 (ALSPAC)
C=0.441948/236 (MGP)
C=0.44795/1661 (TWINSUK)
C=0.457916/457 (GoNL)
C=0.464955/2083 (Estonian)
C=0.470395/143 (FINRISK)
C=0.48/288 (NorthernSweden)
C=0.481481/104 (Qatari)
HGVS:: NC_000008.11:g.18400344T>A, NC_000008.11:g.18400344T>C, NC_000008.10:g.18257854T>A, NC_000008.10:g.18257854T>C, NG_012246.1:g.14100T>A, NG_012246.1:g.14100T>C, NM_000015.3:c.341T>A, NM_000015.3:c.341T>C, NM_000015.2:c.341T>A, NM_000015.2:c.341T>C, XM_017012938.2:c.341T>A, XM_017012938.2:c.341T>C, XM_017012938.1:c.341T>A, XM_017012938.1:c.341T>C, NP_000006.2:p.Ile114Asn, NP_000006.2:p.Ile114Thr, XP_016868427.1:p.Ile114Asn, XP_016868427.1:p.Ile114Thr

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