rs12721427 - SNP

Select item 127214271.

rs12721427 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 12:47974758 (GRCh38)
12:48368541 (GRCh37)
Canonical SPDI:: NC_000012.12:47974757:C:G,NC_000012.12:47974757:C:T
Gene:: COL2A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.064597/21769 (ALFA)
T=0.018519/4 (Qatari)
T=0.019105/35 (Korea1K)
T=0.019849/58 (KOREAN)
T=0.021173/13 (Vietnamese)
T=0.023639/396 (TOMMO)
T=0.02399/19 (PRJEB37584)
T=0.024938/40 (HapMap)
T=0.024952/52 (HGDP_Stanford)
T=0.025/1 (GENOME_DK)
T=0.026341/2073 (PAGE_STUDY)
T=0.026858/135 (1000Genomes)
T=0.045589/12067 (TOPMED)
T=0.052434/28 (MGP)
T=0.053517/13459 (GnomAD_exomes)
T=0.053821/700 (GoESP)
T=0.053962/7564 (GnomAD)
T=0.054898/6665 (ExAC)
T=0.061667/37 (NorthernSweden)
T=0.079558/295 (TWINSUK)
T=0.082237/25 (FINRISK)
T=0.08517/85 (GoNL)
T=0.087442/337 (ALSPAC)
T=0.114732/514 (Estonian)
T=0.131579/10 (PRJEB36033)
C=0.40625/13 (SGDP_PRJ)
C=0.5/4 (Siberian)
HGVS:: NC_000012.12:g.47974758C>G, NC_000012.12:g.47974758C>T, NC_000012.11:g.48368541C>G, NC_000012.11:g.48368541C>T, NG_008072.1:g.34745G>C, NG_008072.1:g.34745G>A, NM_001844.5:c.3991G>C, NM_001844.5:c.3991G>A, NM_001844.4:c.3991G>C, NM_001844.4:c.3991G>A, NM_033150.3:c.3784G>C, NM_033150.3:c.3784G>A, NM_033150.2:c.3784G>C, NM_033150.2:c.3784G>A, XM_017018831.3:c.3445G>C, XM_017018831.3:c.3445G>A, XM_017018831.2:c.3445G>C, XM_017018831.2:c.3445G>A, XM_017018831.1:c.3445G>C, XM_017018831.1:c.3445G>A, XM_017018828.1:c.4135G>C, XM_017018828.1:c.4135G>A, XM_017018829.1:c.4132G>C, XM_017018829.1:c.4132G>A, XM_017018830.1:c.3925G>C, XM_017018830.1:c.3925G>A, XM_047428315.1:c.3445G>C, XM_047428315.1:c.3445G>A, NP_001835.3:p.Val1331Leu, NP_001835.3:p.Val1331Ile, NP_149162.2:p.Val1262Leu, NP_149162.2:p.Val1262Ile, XP_016874320.1:p.Val1149Leu, XP_016874320.1:p.Val1149Ile, XP_016874317.1:p.Val1379Leu, XP_016874317.1:p.Val1379Ile, XP_016874318.1:p.Val1378Leu, XP_016874318.1:p.Val1378Ile, XP_016874319.1:p.Val1309Leu, XP_016874319.1:p.Val1309Ile, XP_047284271.1:p.Val1149Leu, XP_047284271.1:p.Val1149Ile

Select item 3865257962.

rs386525796 has merged into rs12721427 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 12:47974758 (GRCh38)
12:48368541 (GRCh37)
Canonical SPDI:: NC_000012.12:47974757:C:G,NC_000012.12:47974757:C:T
Gene:: COL2A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.064597/21769 (ALFA)
T=0.018519/4 (Qatari)
T=0.019105/35 (Korea1K)
T=0.019849/58 (KOREAN)
T=0.021173/13 (Vietnamese)
T=0.023639/396 (TOMMO)
T=0.02399/19 (PRJEB37584)
T=0.024938/40 (HapMap)
T=0.024952/52 (HGDP_Stanford)
T=0.025/1 (GENOME_DK)
T=0.026341/2073 (PAGE_STUDY)
T=0.026858/135 (1000Genomes)
T=0.045589/12067 (TOPMED)
T=0.052434/28 (MGP)
T=0.053517/13459 (GnomAD_exomes)
T=0.053821/700 (GoESP)
T=0.053962/7564 (GnomAD)
T=0.054898/6665 (ExAC)
T=0.061667/37 (NorthernSweden)
T=0.079558/295 (TWINSUK)
T=0.082237/25 (FINRISK)
T=0.08517/85 (GoNL)
T=0.087442/337 (ALSPAC)
T=0.114732/514 (Estonian)
T=0.131579/10 (PRJEB36033)
C=0.40625/13 (SGDP_PRJ)
C=0.5/4 (Siberian)
HGVS:: NC_000012.12:g.47974758C>G, NC_000012.12:g.47974758C>T, NC_000012.11:g.48368541C>G, NC_000012.11:g.48368541C>T, NG_008072.1:g.34745G>C, NG_008072.1:g.34745G>A, NM_001844.5:c.3991G>C, NM_001844.5:c.3991G>A, NM_001844.4:c.3991G>C, NM_001844.4:c.3991G>A, NM_033150.3:c.3784G>C, NM_033150.3:c.3784G>A, NM_033150.2:c.3784G>C, NM_033150.2:c.3784G>A, XM_017018831.3:c.3445G>C, XM_017018831.3:c.3445G>A, XM_017018831.2:c.3445G>C, XM_017018831.2:c.3445G>A, XM_017018831.1:c.3445G>C, XM_017018831.1:c.3445G>A, XM_017018828.1:c.4135G>C, XM_017018828.1:c.4135G>A, XM_017018829.1:c.4132G>C, XM_017018829.1:c.4132G>A, XM_017018830.1:c.3925G>C, XM_017018830.1:c.3925G>A, XM_047428315.1:c.3445G>C, XM_047428315.1:c.3445G>A, NP_001835.3:p.Val1331Leu, NP_001835.3:p.Val1331Ile, NP_149162.2:p.Val1262Leu, NP_149162.2:p.Val1262Ile, XP_016874320.1:p.Val1149Leu, XP_016874320.1:p.Val1149Ile, XP_016874317.1:p.Val1379Leu, XP_016874317.1:p.Val1379Ile, XP_016874318.1:p.Val1378Leu, XP_016874318.1:p.Val1378Ile, XP_016874319.1:p.Val1309Leu, XP_016874319.1:p.Val1309Ile, XP_047284271.1:p.Val1149Leu, XP_047284271.1:p.Val1149Ile

Select item 604387273.

rs60438727 has merged into rs12721427 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 12:47974758 (GRCh38)
12:48368541 (GRCh37)
Canonical SPDI:: NC_000012.12:47974757:C:G,NC_000012.12:47974757:C:T
Gene:: COL2A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.064597/21769 (ALFA)
T=0.018519/4 (Qatari)
T=0.019105/35 (Korea1K)
T=0.019849/58 (KOREAN)
T=0.021173/13 (Vietnamese)
T=0.023639/396 (TOMMO)
T=0.02399/19 (PRJEB37584)
T=0.024938/40 (HapMap)
T=0.024952/52 (HGDP_Stanford)
T=0.025/1 (GENOME_DK)
T=0.026341/2073 (PAGE_STUDY)
T=0.026858/135 (1000Genomes)
T=0.045589/12067 (TOPMED)
T=0.052434/28 (MGP)
T=0.053517/13459 (GnomAD_exomes)
T=0.053821/700 (GoESP)
T=0.053962/7564 (GnomAD)
T=0.054898/6665 (ExAC)
T=0.061667/37 (NorthernSweden)
T=0.079558/295 (TWINSUK)
T=0.082237/25 (FINRISK)
T=0.08517/85 (GoNL)
T=0.087442/337 (ALSPAC)
T=0.114732/514 (Estonian)
T=0.131579/10 (PRJEB36033)
C=0.40625/13 (SGDP_PRJ)
C=0.5/4 (Siberian)
HGVS:: NC_000012.12:g.47974758C>G, NC_000012.12:g.47974758C>T, NC_000012.11:g.48368541C>G, NC_000012.11:g.48368541C>T, NG_008072.1:g.34745G>C, NG_008072.1:g.34745G>A, NM_001844.5:c.3991G>C, NM_001844.5:c.3991G>A, NM_001844.4:c.3991G>C, NM_001844.4:c.3991G>A, NM_033150.3:c.3784G>C, NM_033150.3:c.3784G>A, NM_033150.2:c.3784G>C, NM_033150.2:c.3784G>A, XM_017018831.3:c.3445G>C, XM_017018831.3:c.3445G>A, XM_017018831.2:c.3445G>C, XM_017018831.2:c.3445G>A, XM_017018831.1:c.3445G>C, XM_017018831.1:c.3445G>A, XM_017018828.1:c.4135G>C, XM_017018828.1:c.4135G>A, XM_017018829.1:c.4132G>C, XM_017018829.1:c.4132G>A, XM_017018830.1:c.3925G>C, XM_017018830.1:c.3925G>A, XM_047428315.1:c.3445G>C, XM_047428315.1:c.3445G>A, NP_001835.3:p.Val1331Leu, NP_001835.3:p.Val1331Ile, NP_149162.2:p.Val1262Leu, NP_149162.2:p.Val1262Ile, XP_016874320.1:p.Val1149Leu, XP_016874320.1:p.Val1149Ile, XP_016874317.1:p.Val1379Leu, XP_016874317.1:p.Val1379Ile, XP_016874318.1:p.Val1378Leu, XP_016874318.1:p.Val1378Ile, XP_016874319.1:p.Val1309Leu, XP_016874319.1:p.Val1309Ile, XP_047284271.1:p.Val1149Leu, XP_047284271.1:p.Val1149Ile

Select item 528210384.

rs52821038 has merged into rs12721427 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 12:47974758 (GRCh38)
12:48368541 (GRCh37)
Canonical SPDI:: NC_000012.12:47974757:C:G,NC_000012.12:47974757:C:T
Gene:: COL2A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.064597/21769 (ALFA)
T=0.018519/4 (Qatari)
T=0.019105/35 (Korea1K)
T=0.019849/58 (KOREAN)
T=0.021173/13 (Vietnamese)
T=0.023639/396 (TOMMO)
T=0.02399/19 (PRJEB37584)
T=0.024938/40 (HapMap)
T=0.024952/52 (HGDP_Stanford)
T=0.025/1 (GENOME_DK)
T=0.026341/2073 (PAGE_STUDY)
T=0.026858/135 (1000Genomes)
T=0.045589/12067 (TOPMED)
T=0.052434/28 (MGP)
T=0.053517/13459 (GnomAD_exomes)
T=0.053821/700 (GoESP)
T=0.053962/7564 (GnomAD)
T=0.054898/6665 (ExAC)
T=0.061667/37 (NorthernSweden)
T=0.079558/295 (TWINSUK)
T=0.082237/25 (FINRISK)
T=0.08517/85 (GoNL)
T=0.087442/337 (ALSPAC)
T=0.114732/514 (Estonian)
T=0.131579/10 (PRJEB36033)
C=0.40625/13 (SGDP_PRJ)
C=0.5/4 (Siberian)
HGVS:: NC_000012.12:g.47974758C>G, NC_000012.12:g.47974758C>T, NC_000012.11:g.48368541C>G, NC_000012.11:g.48368541C>T, NG_008072.1:g.34745G>C, NG_008072.1:g.34745G>A, NM_001844.5:c.3991G>C, NM_001844.5:c.3991G>A, NM_001844.4:c.3991G>C, NM_001844.4:c.3991G>A, NM_033150.3:c.3784G>C, NM_033150.3:c.3784G>A, NM_033150.2:c.3784G>C, NM_033150.2:c.3784G>A, XM_017018831.3:c.3445G>C, XM_017018831.3:c.3445G>A, XM_017018831.2:c.3445G>C, XM_017018831.2:c.3445G>A, XM_017018831.1:c.3445G>C, XM_017018831.1:c.3445G>A, XM_017018828.1:c.4135G>C, XM_017018828.1:c.4135G>A, XM_017018829.1:c.4132G>C, XM_017018829.1:c.4132G>A, XM_017018830.1:c.3925G>C, XM_017018830.1:c.3925G>A, XM_047428315.1:c.3445G>C, XM_047428315.1:c.3445G>A, NP_001835.3:p.Val1331Leu, NP_001835.3:p.Val1331Ile, NP_149162.2:p.Val1262Leu, NP_149162.2:p.Val1262Ile, XP_016874320.1:p.Val1149Leu, XP_016874320.1:p.Val1149Ile, XP_016874317.1:p.Val1379Leu, XP_016874317.1:p.Val1379Ile, XP_016874318.1:p.Val1378Leu, XP_016874318.1:p.Val1378Ile, XP_016874319.1:p.Val1309Leu, XP_016874319.1:p.Val1309Ile, XP_047284271.1:p.Val1149Leu, XP_047284271.1:p.Val1149Ile

Select item 172244545.

rs17224454 has merged into rs12721427 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 12:47974758 (GRCh38)
12:48368541 (GRCh37)
Canonical SPDI:: NC_000012.12:47974757:C:G,NC_000012.12:47974757:C:T
Gene:: COL2A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.064597/21769 (ALFA)
T=0.018519/4 (Qatari)
T=0.019105/35 (Korea1K)
T=0.019849/58 (KOREAN)
T=0.021173/13 (Vietnamese)
T=0.023639/396 (TOMMO)
T=0.02399/19 (PRJEB37584)
T=0.024938/40 (HapMap)
T=0.024952/52 (HGDP_Stanford)
T=0.025/1 (GENOME_DK)
T=0.026341/2073 (PAGE_STUDY)
T=0.026858/135 (1000Genomes)
T=0.045589/12067 (TOPMED)
T=0.052434/28 (MGP)
T=0.053517/13459 (GnomAD_exomes)
T=0.053821/700 (GoESP)
T=0.053962/7564 (GnomAD)
T=0.054898/6665 (ExAC)
T=0.061667/37 (NorthernSweden)
T=0.079558/295 (TWINSUK)
T=0.082237/25 (FINRISK)
T=0.08517/85 (GoNL)
T=0.087442/337 (ALSPAC)
T=0.114732/514 (Estonian)
T=0.131579/10 (PRJEB36033)
C=0.40625/13 (SGDP_PRJ)
C=0.5/4 (Siberian)
HGVS:: NC_000012.12:g.47974758C>G, NC_000012.12:g.47974758C>T, NC_000012.11:g.48368541C>G, NC_000012.11:g.48368541C>T, NG_008072.1:g.34745G>C, NG_008072.1:g.34745G>A, NM_001844.5:c.3991G>C, NM_001844.5:c.3991G>A, NM_001844.4:c.3991G>C, NM_001844.4:c.3991G>A, NM_033150.3:c.3784G>C, NM_033150.3:c.3784G>A, NM_033150.2:c.3784G>C, NM_033150.2:c.3784G>A, XM_017018831.3:c.3445G>C, XM_017018831.3:c.3445G>A, XM_017018831.2:c.3445G>C, XM_017018831.2:c.3445G>A, XM_017018831.1:c.3445G>C, XM_017018831.1:c.3445G>A, XM_017018828.1:c.4135G>C, XM_017018828.1:c.4135G>A, XM_017018829.1:c.4132G>C, XM_017018829.1:c.4132G>A, XM_017018830.1:c.3925G>C, XM_017018830.1:c.3925G>A, XM_047428315.1:c.3445G>C, XM_047428315.1:c.3445G>A, NP_001835.3:p.Val1331Leu, NP_001835.3:p.Val1331Ile, NP_149162.2:p.Val1262Leu, NP_149162.2:p.Val1262Ile, XP_016874320.1:p.Val1149Leu, XP_016874320.1:p.Val1149Ile, XP_016874317.1:p.Val1379Leu, XP_016874317.1:p.Val1379Ile, XP_016874318.1:p.Val1378Leu, XP_016874318.1:p.Val1378Ile, XP_016874319.1:p.Val1309Leu, XP_016874319.1:p.Val1309Ile, XP_047284271.1:p.Val1149Leu, XP_047284271.1:p.Val1149Ile

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