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Select item 25228331.

rs2522833 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:82824392 (GRCh38)
7:82453708 (GRCh37)
Canonical SPDI:: NC_000007.14:82824391:A:C
Gene:: PCLO (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.4155362/156043 (ALFA)
A=0.2619048/11 (Siberian)
A=0.2777778/220 (PRJEB37584)
A=0.2857143/112 (SGDP_PRJ)
A=0.3037543/890 (KOREAN)
A=0.3041251/2197 (Korea4K)
C=0.3052887/24025 (PAGE_STUDY)
A=0.3144105/576 (Korea1K)
C=0.3187448/3860 (GoESP)
A=0.3221239/182 (Vietnamese)
C=0.3341947/88458 (TOPMED)
C=0.3503348/52003 (GnomAD_genomes)
C=0.3712766/698 (HapMap)
C=0.3745318/200 (MGP)
C=0.3880387/2485 (1000Genomes_30X)
A=0.3957182/30646 (TOMMO)
C=0.4/16 (GENOME_DK)
C=0.4006696/1795 (Estonian)
C=0.4025559/2016 (1000Genomes)
C=0.4260509/1642 (ALSPAC)
C=0.4333333/260 (NorthernSweden)
C=0.433657/1608 (TWINSUK)
C=0.4408524/613849 (GnomAD_exomes)
C=0.4431473/53331 (ExAC)
C=0.4478958/447 (GoNL)
C=0.4583333/99 (Qatari)
C=0.4671053/142 (FINRISK)
C=0.4701923/978 (HGDP_Stanford)
A=0.4805996/545 (Daghestan)
A=0.5/18 (PRJEB36033)
HGVS:: NC_000007.14:g.82824392A>C, NC_000007.13:g.82453708A>C, NG_047145.1:g.343490T>G, NM_033026.6:c.14440T>G, NM_033026.5:c.14440T>G, NM_014510.3:c.14440T>G, NM_014510.2:c.14440T>G, XM_017012006.3:c.7345T>G, XM_017012006.2:c.7345T>G, XM_017012006.1:c.7345T>G, XM_047420210.1:c.14440T>G, XM_047420211.1:c.13966T>G, XM_047420212.1:c.14413T>G, NP_149015.2:p.Ser4814Ala, NP_055325.2:p.Ser4814Ala, XP_016867495.1:p.Ser2449Ala, XP_047276166.1:p.Ser4814Ala, XP_047276167.1:p.Ser4656Ala, XP_047276168.1:p.Ser4805Ala

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