SNP Links for Nucleotide (Select 544186141) - SNP

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Links from Nucleotide

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Select item 14897798541.

rs1489779854 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 22:32370901 (GRCh38)
22:32766888 (GRCh37)
Canonical SPDI:: NC_000022.11:32370900:T:G
Gene:: RFPL3S (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.32370901T>G, NC_000022.10:g.32766888T>G, NR_001450.3:n.176A>C, NR_001450.2:n.85A>C, NR_002596.2:n.176A>C, NR_002596.1:n.176A>C, NR_104232.1:n.108A>C

Select item 14894792852.

rs1489479285 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 22:32360336 (GRCh38)
22:32756323 (GRCh37)
Canonical SPDI:: NC_000022.11:32360335:C:G
Gene:: RFPL3S (Varview), RFPL3 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000057/15 (TOPMED)
G=0.000071/10 (GnomAD)
HGVS:: NC_000022.11:g.32360336C>G, NC_000022.10:g.32756323C>G, NR_001450.3:n.778G>C, NR_001450.2:n.687G>C, NR_002596.2:n.865G>C, NR_002596.1:n.865G>C, NM_006604.2:c.371C>G, NM_001098535.1:c.458C>G, NR_104232.1:n.710G>C, NP_006595.1:p.Thr124Arg, NP_001092005.1:p.Thr153Arg

Select item 14886126463.

rs1488612646 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:32360120 (GRCh38)
22:32756107 (GRCh37)
Canonical SPDI:: NC_000022.11:32360119:A:G
Gene:: RFPL3S (Varview), RFPL3 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.32360120A>G, NC_000022.10:g.32756107A>G, NR_001450.3:n.994T>C, NR_001450.2:n.903T>C, NR_002596.2:n.1081T>C, NR_002596.1:n.1081T>C, NR_104232.1:n.926T>C

Select item 14850561464.

rs1485056146 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:32370960 (GRCh38)
22:32766947 (GRCh37)
Canonical SPDI:: NC_000022.11:32370959:G:C
Gene:: RFPL3S (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.32370960G>C, NC_000022.10:g.32766947G>C, NR_001450.3:n.117C>G, NR_001450.2:n.26C>G, NR_002596.2:n.117C>G, NR_002596.1:n.117C>G

Select item 14795880165.

rs1479588016 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:32368565 (GRCh38)
22:32764552 (GRCh37)
Canonical SPDI:: NC_000022.11:32368564:G:A
Gene:: RFPL3S (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000014/2 (GnomAD_exomes)
HGVS:: NC_000022.11:g.32368565G>A, NC_000022.10:g.32764552G>A, NR_001450.3:n.181C>T, NR_001450.2:n.90C>T, NR_002596.2:n.181C>T, NR_002596.1:n.181C>T, NR_104232.1:n.113C>T

Select item 14784240796.

rs1478424079 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 22:32360348 (GRCh38)
22:32756335 (GRCh37)
Canonical SPDI:: NC_000022.11:32360347:A:C
Gene:: RFPL3S (Varview), RFPL3 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.32360348A>C, NC_000022.10:g.32756335A>C, NR_001450.3:n.766T>G, NR_001450.2:n.675T>G, NR_002596.2:n.853T>G, NR_002596.1:n.853T>G, NM_006604.2:c.383A>C, NM_001098535.1:c.470A>C, NR_104232.1:n.698T>G, NP_006595.1:p.Gln128Pro, NP_001092005.1:p.Gln157Pro

Select item 14782124997.

rs1478212499 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 22:32368522 (GRCh38)
22:32764509 (GRCh37)
Canonical SPDI:: NC_000022.11:32368521:C:G
Gene:: RFPL3S (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.32368522C>G, NC_000022.10:g.32764509C>G, NR_001450.3:n.224G>C, NR_001450.2:n.133G>C, NR_002596.2:n.224G>C, NR_002596.1:n.224G>C, NR_104232.1:n.156G>C

Select item 14765154988.

rs1476515498 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:32360638 (GRCh38)
22:32756625 (GRCh37)
Canonical SPDI:: NC_000022.11:32360637:C:T
Gene:: RFPL3S (Varview), RFPL3 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,stop_gained
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.32360638C>T, NC_000022.10:g.32756625C>T, NR_001450.3:n.476G>A, NR_001450.2:n.385G>A, NR_002596.2:n.563G>A, NR_002596.1:n.563G>A, NM_006604.2:c.673C>T, NM_001098535.1:c.760C>T, NR_104232.1:n.408G>A, NP_006595.1:p.Gln225Ter, NP_001092005.1:p.Gln254Ter

Select item 14746074609.

rs1474607460 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 22:32371046 (GRCh38)
22:32767033 (GRCh37)
Canonical SPDI:: NC_000022.11:32371045:C:G,NC_000022.11:32371045:C:T
Gene:: RFPL3S (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000071/1 (TOMMO)
HGVS:: NC_000022.11:g.32371046C>G, NC_000022.11:g.32371046C>T, NC_000022.10:g.32767033C>G, NC_000022.10:g.32767033C>T, NR_001450.3:n.31G>C, NR_001450.3:n.31G>A, NR_002596.2:n.31G>C, NR_002596.2:n.31G>A, NR_002596.1:n.31G>C, NR_002596.1:n.31G>A

Select item 147305384410.

rs1473053844 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:32371060 (GRCh38)
22:32767047 (GRCh37)
Canonical SPDI:: NC_000022.11:32371059:G:A
Gene:: RFPL3S (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.32371060G>A, NC_000022.10:g.32767047G>A, NR_001450.3:n.17C>T, NR_002596.2:n.17C>T, NR_002596.1:n.17C>T

Select item 147221400411.

rs1472214004 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 22:32368536 (GRCh38)
22:32764523 (GRCh37)
Canonical SPDI:: NC_000022.11:32368535:G:A,NC_000022.11:32368535:G:C
Gene:: RFPL3S (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.000013/2 (GnomAD_exomes)
A=0.000035/1 (TOMMO)
C=0.000156/1 (1000Genomes)
HGVS:: NC_000022.11:g.32368536G>A, NC_000022.11:g.32368536G>C, NC_000022.10:g.32764523G>A, NC_000022.10:g.32764523G>C, NR_001450.3:n.210C>T, NR_001450.3:n.210C>G, NR_001450.2:n.119C>T, NR_001450.2:n.119C>G, NR_002596.2:n.210C>T, NR_002596.2:n.210C>G, NR_002596.1:n.210C>T, NR_002596.1:n.210C>G, NR_104232.1:n.142C>T, NR_104232.1:n.142C>G

Select item 147213064312.

rs1472130643 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:32360613 (GRCh38)
22:32756600 (GRCh37)
Canonical SPDI:: NC_000022.11:32360612:G:A
Gene:: RFPL3S (Varview), RFPL3 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.32360613G>A, NC_000022.10:g.32756600G>A, NR_001450.3:n.501C>T, NR_001450.2:n.410C>T, NR_002596.2:n.588C>T, NR_002596.1:n.588C>T, NM_006604.2:c.648G>A, NM_001098535.1:c.735G>A, NR_104232.1:n.433C>T

Select item 147066160113.

rs1470661601 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:32360183 (GRCh38)
22:32756170 (GRCh37)
Canonical SPDI:: NC_000022.11:32360182:T:C
Gene:: RFPL3S (Varview), RFPL3 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.32360183T>C, NC_000022.10:g.32756170T>C, NR_001450.3:n.931A>G, NR_001450.2:n.840A>G, NR_002596.2:n.1018A>G, NR_002596.1:n.1018A>G, NR_104232.1:n.863A>G

Select item 146822284814.

rs1468222848 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:32370928 (GRCh38)
22:32766915 (GRCh37)
Canonical SPDI:: NC_000022.11:32370927:A:G
Gene:: RFPL3S (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.32370928A>G, NC_000022.10:g.32766915A>G, NR_001450.3:n.149T>C, NR_001450.2:n.58T>C, NR_002596.2:n.149T>C, NR_002596.1:n.149T>C, NR_104232.1:n.81T>C

Select item 146660107615.

rs1466601076 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:32359933 (GRCh38)
22:32755920 (GRCh37)
Canonical SPDI:: NC_000022.11:32359932:C:T
Gene:: RFPL3S (Varview), RFPL3 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.32359933C>T, NC_000022.10:g.32755920C>T, NR_001450.3:n.1181G>A, NR_001450.2:n.1090G>A, NR_002596.2:n.1268G>A, NR_002596.1:n.1268G>A, NR_104232.1:n.1113G>A

Select item 146108773516.

rs1461087735 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 22:32360203 (GRCh38)
22:32756190 (GRCh37)
Canonical SPDI:: NC_000022.11:32360202:G:A,NC_000022.11:32360202:G:C
Gene:: RFPL3S (Varview), RFPL3 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.32360203G>A, NC_000022.11:g.32360203G>C, NC_000022.10:g.32756190G>A, NC_000022.10:g.32756190G>C, NR_001450.3:n.911C>T, NR_001450.3:n.911C>G, NR_001450.2:n.820C>T, NR_001450.2:n.820C>G, NR_002596.2:n.998C>T, NR_002596.2:n.998C>G, NR_002596.1:n.998C>T, NR_002596.1:n.998C>G, NR_104232.1:n.843C>T, NR_104232.1:n.843C>G

Select item 146101946217.

rs1461019462 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:32360819 (GRCh38)
22:32756806 (GRCh37)
Canonical SPDI:: NC_000022.11:32360818:G:A
Gene:: RFPL3S (Varview), RFPL3 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000022.11:g.32360819G>A, NC_000022.10:g.32756806G>A, NR_001450.3:n.295C>T, NR_001450.2:n.204C>T, NR_002596.2:n.382C>T, NR_002596.1:n.382C>T, NM_006604.2:c.854G>A, NM_001098535.1:c.941G>A, NR_104232.1:n.227C>T, NP_006595.1:p.Gly285Glu, NP_001092005.1:p.Gly314Glu

Select item 145733619818.

rs1457336198 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:32371006 (GRCh38)
22:32766993 (GRCh37)
Canonical SPDI:: NC_000022.11:32371005:G:A
Gene:: RFPL3S (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.32371006G>A, NC_000022.10:g.32766993G>A, NR_001450.3:n.71C>T, NR_002596.2:n.71C>T, NR_002596.1:n.71C>T

Select item 145334554019.

rs1453345540 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 22:32367698 (GRCh38)
22:32763685 (GRCh37)
Canonical SPDI:: NC_000022.11:32367697:G:T
Gene:: RFPL3S (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000007/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.32367698G>T, NC_000022.10:g.32763685G>T, NR_001450.3:n.266C>A, NR_001450.2:n.175C>A, NR_002596.2:n.266C>A, NR_002596.1:n.266C>A, NR_104232.1:n.198C>A

Select item 145211182220.

rs1452111822 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:32359906 (GRCh38)
22:32755893 (GRCh37)
Canonical SPDI:: NC_000022.11:32359905:T:C
Gene:: RFPL3S (Varview), RFPL3 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000022.11:g.32359906T>C, NC_000022.10:g.32755893T>C, NR_001450.3:n.1208A>G, NR_002596.2:n.1295A>G, NR_002596.1:n.1295A>G, NR_104232.1:n.1140A>G