rs3138268 - SNP

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Select item 31382681.

rs3138268 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:91151736 (GRCh38)
12:91545513 (GRCh37)
Canonical SPDI:: NC_000012.12:91151735:G:A
Gene:: DCN (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00301/855 (ALFA)
A=0.000071/1 (TOMMO)
A=0.000259/1 (ALSPAC)
A=0.00027/1 (TWINSUK)
A=0.001873/1 (MGP)
A=0.004769/1199 (GnomAD_exomes)
A=0.005646/684 (ExAC)
A=0.017567/2463 (GnomAD)
A=0.018519/4 (Qatari)
A=0.01853/241 (GoESP)
A=0.018969/5021 (TOPMED)
A=0.021705/109 (1000Genomes)
A=0.02737/2154 (PAGE_STUDY)
A=0.047145/71 (HapMap)
G=0.3/3 (SGDP_PRJ)
HGVS:: NC_000012.12:g.91151736G>A, NC_000012.11:g.91545513G>A, NG_011672.1:g.36294C>T, NM_001920.5:c.803C>T, NM_001920.4:c.803C>T, NM_001920.3:c.803C>T, NM_133503.4:c.803C>T, NM_133503.3:c.803C>T, NM_133503.2:c.803C>T, NM_133504.3:c.476C>T, NM_133504.2:c.476C>T, NM_133505.3:c.362C>T, NM_133505.2:c.362C>T, NP_001911.1:p.Thr268Met, NP_598010.1:p.Thr268Met, NP_598011.1:p.Thr159Met, NP_598012.1:p.Thr121Met

Select item 528215952.

rs52821595 has merged into rs3138268 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:91151736 (GRCh38)
12:91545513 (GRCh37)
Canonical SPDI:: NC_000012.12:91151735:G:A
Gene:: DCN (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00301/855 (ALFA)
A=0.000071/1 (TOMMO)
A=0.000259/1 (ALSPAC)
A=0.00027/1 (TWINSUK)
A=0.001873/1 (MGP)
A=0.004769/1199 (GnomAD_exomes)
A=0.005646/684 (ExAC)
A=0.017567/2463 (GnomAD)
A=0.018519/4 (Qatari)
A=0.01853/241 (GoESP)
A=0.018969/5021 (TOPMED)
A=0.021705/109 (1000Genomes)
A=0.02737/2154 (PAGE_STUDY)
A=0.047145/71 (HapMap)
G=0.3/3 (SGDP_PRJ)
HGVS:: NC_000012.12:g.91151736G>A, NC_000012.11:g.91545513G>A, NG_011672.1:g.36294C>T, NM_001920.5:c.803C>T, NM_001920.4:c.803C>T, NM_001920.3:c.803C>T, NM_133503.4:c.803C>T, NM_133503.3:c.803C>T, NM_133503.2:c.803C>T, NM_133504.3:c.476C>T, NM_133504.2:c.476C>T, NM_133505.3:c.362C>T, NM_133505.2:c.362C>T, NP_001911.1:p.Thr268Met, NP_598010.1:p.Thr268Met, NP_598011.1:p.Thr159Met, NP_598012.1:p.Thr121Met