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Select item 28536691.

rs2853669 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 5:1295234 (GRCh38)
5:1295349 (GRCh37)
Canonical SPDI:: NC_000005.10:1295233:A:C,NC_000005.10:1295233:A:G,NC_000005.10:1295233:A:T
Gene:: TERT (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.266408/7623 (ALFA)
G=0.239732/1074 (Estonian)
G=0.241738/33822 (GnomAD)
G=0.246095/65139 (TOPMED)
G=0.254798/4269 (TOMMO)
G=0.266667/160 (NorthernSweden)
G=0.291849/1462 (1000Genomes)
A=0.309859/88 (SGDP_PRJ)
G=0.320542/568 (Korea1K)
G=0.322276/1195 (TWINSUK)
G=0.324857/1252 (ALSPAC)
G=0.325678/936 (KOREAN)
G=0.35/14 (GENOME_DK)
A=0.394737/15 (Siberian)
G=0.398148/86 (Qatari)
G=0.471698/100 (Vietnamese)
HGVS:: NC_000005.10:g.1295234A>C, NC_000005.10:g.1295234A>G, NC_000005.10:g.1295234A>T, NC_000005.9:g.1295349A>C, NC_000005.9:g.1295349A>G, NC_000005.9:g.1295349A>T, NG_009265.1:g.4814T>G, NG_009265.1:g.4814T>C, NG_009265.1:g.4814T>A, NG_055467.1:g.707A>C, NG_055467.1:g.707A>G, NG_055467.1:g.707A>T

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