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Select item 10427141.

rs1042714 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 5:148826910 (GRCh38)
5:148206473 (GRCh37)
Canonical SPDI:: NC_000005.10:148826909:G:A,NC_000005.10:148826909:G:C,NC_000005.10:148826909:G:T
Gene:: ADRB2 (Varview)
Functional Consequence:: stop_gained,missense_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.3972325/19578 (ALFA)
T=0./0 (KOREAN)
G=0.0634652/4915 (TOMMO)
G=0.0684039/42 (Vietnamese)
G=0.0967653/700 (Korea4K)
G=0.1031659/189 (Korea1K)
G=0.1189873/94 (PRJEB37584)
G=0.1351351/70 (SGDP_PRJ)
G=0.1978746/15566 (PAGE_STUDY)
G=0.2042732/1023 (1000Genomes)
G=0.2062773/1321 (1000Genomes_30X)
G=0.2314815/50 (Qatari)
G=0.2560976/84 (HapMap)
C=0.275/11 (GENOME_DK)
G=0.2916667/14 (Siberian)
G=0.3045752/80618 (TOPMED)
G=0.3166172/38431 (ExAC)
G=0.3169439/47295 (GnomAD_genomes)
G=0.3327229/8539 (PharmGKB)
G=0.3675497/111 (FINRISK)
G=0.3997749/560227 (GnomAD_exomes)
G=0.4066667/244 (NorthernSweden)
G=0.4238839/1899 (Estonian)
G=0.4285714/42 (PRJEB36033)
G=0.4382022/234 (MGP)
G=0.4619238/461 (GoNL)
HGVS:: NC_000005.10:g.148826910G>A, NC_000005.10:g.148826910G>C, NC_000005.10:g.148826910G>T, NC_000005.9:g.148206473G>A, NC_000005.9:g.148206473G>C, NC_000005.9:g.148206473G>T, NG_016421.2:g.5318G>A, NG_016421.2:g.5318G>C, NG_016421.2:g.5318G>T, NM_000024.6:c.79G>A, NM_000024.6:c.79G>C, NM_000024.6:c.79G>T, NM_000024.5:c.79C>G, NM_000024.5:c.79C>A, NM_000024.5:c.79C>T, NG_106171.1:g.85G>A, NG_106171.1:g.85G>C, NG_106171.1:g.85G>T, NG_174398.1:g.271G>A, NG_174398.1:g.271G>C, NG_174398.1:g.271G>T, NP_000015.2:p.Glu27Lys, NP_000015.2:p.Glu27Gln, NP_000015.2:p.Glu27Ter

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