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Select item 2381.

rs238 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 9:96023994 (GRCh38)
9:98786276 (GRCh37)
Canonical SPDI:: NC_000009.12:96023993:A:C,NC_000009.12:96023993:A:G,NC_000009.12:96023993:A:T
Gene:: ERCC6L2 (Varview), LOC105376159 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.420342/66187 (ALFA)
A=0.214878/16641 (TOMMO)
A=0.217747/638 (KOREAN)
A=0.218107/106 (SGDP_PRJ)
A=0.221101/1599 (Korea4K)
A=0.239241/189 (PRJEB37584)
A=0.259555/20427 (PAGE_STUDY)
A=0.28/14 (Siberian)
A=0.282078/532 (HapMap)
A=0.28857/1848 (1000Genomes_30X)
A=0.28972/62 (Vietnamese)
A=0.291134/1458 (1000Genomes)
A=0.309798/645 (HGDP_Stanford)
A=0.333036/1492 (Estonian)
A=0.337448/89319 (TOPMED)
A=0.342365/51035 (GnomAD_genomes)
A=0.368421/14 (PRJEB36033)
A=0.423333/254 (NorthernSweden)
G=0.425/17 (GENOME_DK)
A=0.434094/1673 (ALSPAC)
A=0.442886/442 (GoNL)
A=0.463053/1717 (TWINSUK)
A=0.467593/101 (Qatari)
HGVS:: NC_000009.12:g.96023994A>C, NC_000009.12:g.96023994A>G, NC_000009.12:g.96023994A>T, NC_000009.11:g.98786276A>C, NC_000009.11:g.98786276A>G, NC_000009.11:g.98786276A>T, NG_034107.2:g.153305A>C, NG_034107.2:g.153305A>G, NG_034107.2:g.153305A>T, NR_188619.1:n.2303T>G, NR_188619.1:n.2303T>C, NR_188619.1:n.2303T>A

dbSNP