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Select item 12563491.

rs1256349 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:21530123 (GRCh38)
1:21856616 (GRCh37)
Canonical SPDI:: NC_000001.11:21530122:C:T
Gene:: ALPL (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.146044/3706 (ALFA)
T=0.000103/8 (TOMMO)
T=0.056527/362 (1000Genomes_30X)
T=0.058107/291 (1000Genomes)
T=0.105833/28013 (TOPMED)
T=0.111307/16587 (GnomAD_genomes)
T=0.121667/73 (NorthernSweden)
T=0.148148/32 (Qatari)
T=0.154688/693 (Estonian)
T=0.16658/642 (ALSPAC)
T=0.168015/623 (TWINSUK)
T=0.193387/193 (GoNL)
T=0.275/11 (GENOME_DK)
C=0.471429/33 (SGDP_PRJ)
C=0.5/3 (Siberian)
HGVS:: NC_000001.11:g.21530123C>T, NC_000001.10:g.21856616C>T, NG_008940.2:g.26141C>T, NG_008940.1:g.25759C>T

Supplemental Content

dbSNP