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Select item 123451.

rs12345 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 22:25459492 (GRCh38)
22:25855459 (GRCh37)
Canonical SPDI:: NC_000022.11:25459491:G:A,NC_000022.11:25459491:G:C
Gene:: CRYBB2P1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0135683/328 (ALFA)
A=0.0000129/1 (TOMMO)
A=0.0224719/12 (MGP)
A=0.0270541/27 (GoNL)
A=0.0283172/105 (TWINSUK)
A=0.0293917/39351 (GnomAD_exomes)
A=0.0311365/120 (ALSPAC)
A=0.037037/8 (Qatari)
A=0.0501198/251 (1000Genomes)
A=0.0516667/31 (NorthernSweden)
A=0.0519988/333 (1000Genomes_30X)
G=0.4074074/22 (SGDP_PRJ)
G=0.5/2 (Siberian)
HGVS:: NC_000022.11:g.25459492G>A, NC_000022.11:g.25459492G>C, NC_000022.10:g.25855459G>A, NC_000022.10:g.25855459G>C, NR_033733.1:n.666G>A, NR_033733.1:n.666G>C, NR_033734.1:n.547G>A, NR_033734.1:n.547G>C

Supplemental Content

dbSNP