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Select item 613619281.

rs61361928 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:69096657 (GRCh38)
4:69962375 (GRCh37)
Canonical SPDI:: NC_000004.12:69096656:T:C
Gene:: UGT2B7 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Clinical significance:: likely-benign,drug-response
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.004658/949 (ALFA)
C=0.000781/4 (1000Genomes)
C=0.000907/3 (PRJEB37766)
C=0.002617/658 (GnomAD_exomes)
C=0.002703/328 (ExAC)
C=0.002735/724 (TOPMED)
C=0.002839/398 (GnomAD)
C=0.003921/51 (GoESP)
C=0.004008/4 (GoNL)
C=0.004585/17 (TWINSUK)
C=0.00467/18 (ALSPAC)
C=0.006027/27 (Estonian)
C=0.008333/5 (NorthernSweden)
C=0.025/1 (GENOME_DK)
T=0.5/1 (SGDP_PRJ)
HGVS:: NC_000004.12:g.69096657T>C, NC_000004.11:g.69962375T>C, NM_001074.4:c.137T>C, NM_001074.3:c.137T>C, NM_001074.2:c.137T>C, NM_001330719.2:c.137T>C, NM_001330719.1:c.137T>C, NP_001065.2:p.Leu46Pro, NP_001317648.1:p.Leu46Pro

dbSNP