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Select item 32190141.

rs3219014 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:9757076 (GRCh38)
3:9798760 (GRCh37)
Canonical SPDI:: NC_000003.12:9757075:G:A
Gene:: OGG1 (Varview), CAMK1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant,500B_downstream_variant,missense_variant,coding_sequence_variant,synonymous_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0004007/91 (ALFA)
A=0.0001706/239 (GnomAD_exomes)
A=0.0003994/2 (1000Genomes)
A=0.0004245/51 (ExAC)
A=0.0004685/3 (1000Genomes_30X)
A=0.000603/90 (GnomAD_genomes)
A=0.0007178/190 (TOPMED)
A=0.0008458/11 (GoESP)
A=0.000864/68 (PAGE_STUDY)
A=0.0215311/18 (HapMap)
HGVS:: NC_000003.12:g.9757076G>A, NC_000003.11:g.9798760G>A, NG_012106.2:g.12126G>A, NG_012106.1:g.12133G>A, NM_002542.6:c.964G>A, NM_002542.5:c.964G>A, NM_016819.4:c.*233G>A, NM_016819.3:c.*233G>A, NM_016820.4:c.981G>A, NM_016820.3:c.981G>A, NR_148932.2:n.1361G>A, NR_148932.1:n.1369G>A, NR_148930.2:n.1295G>A, NR_148930.1:n.1303G>A, NM_001354648.2:c.*233G>A, NM_001354648.1:c.*233G>A, NM_001354649.2:c.631G>A, NM_001354649.1:c.631G>A, NR_148931.2:n.933G>A, NR_148931.1:n.941G>A, XM_017006495.3:c.830G>A, XM_017006495.2:c.830G>A, XM_017006495.1:c.830G>A, XM_017006493.3:c.813G>A, XM_017006493.2:c.813G>A, XM_017006493.1:c.813G>A, NP_002533.1:p.Asp322Asn, NP_001341578.1:p.Asp211Asn, XP_016861984.1:p.Arg277Gln

dbSNP