SNP Links for Protein (Select 384081577) - SNP

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Links from Protein

Items: 1 to 20 of 202

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Select item 14863723021.

rs1486372302 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:57147772 (GRCh38)
18:54815003 (GRCh37)
Canonical SPDI:: NC_000018.10:57147771:G:A
Gene:: BOD1L2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.57147772G>A, NC_000018.9:g.54815003G>A, NM_001257964.2:c.460G>A, NM_001257964.1:c.460G>A, NM_175906.2:c.460G>A, NR_033372.1:n.711G>A, NM_175906.1:c.460G>A, NP_001244893.1:p.Ala154Thr

Select item 14819675532.

rs1481967553 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:57147539 (GRCh38)
18:54814770 (GRCh37)
Canonical SPDI:: NC_000018.10:57147538:C:T
Gene:: BOD1L2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000018.10:g.57147539C>T, NC_000018.9:g.54814770C>T, NM_001257964.2:c.227C>T, NM_001257964.1:c.227C>T, NM_175906.2:c.227C>T, NR_033372.1:n.478C>T, NM_175906.1:c.227C>T, NP_001244893.1:p.Ala76Val

Select item 14783190043.

rs1478319004 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:57147549 (GRCh38)
18:54814780 (GRCh37)
Canonical SPDI:: NC_000018.10:57147548:T:C
Gene:: BOD1L2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.57147549T>C, NC_000018.9:g.54814780T>C, NM_001257964.2:c.237T>C, NM_001257964.1:c.237T>C, NM_175906.2:c.237T>C, NR_033372.1:n.488T>C, NM_175906.1:c.237T>C

Select item 14754301714.

rs1475430171 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:57147676 (GRCh38)
18:54814907 (GRCh37)
Canonical SPDI:: NC_000018.10:57147675:C:T
Gene:: BOD1L2 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.57147676C>T, NC_000018.9:g.54814907C>T, NM_001257964.2:c.364C>T, NM_001257964.1:c.364C>T, NM_175906.2:c.364C>T, NR_033372.1:n.615C>T, NM_175906.1:c.364C>T, NP_001244893.1:p.Gln122Ter

Select item 14742229485.

rs1474222948 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 18:57147477 (GRCh38)
18:54814708 (GRCh37)
Canonical SPDI:: NC_000018.10:57147476:C:A
Gene:: BOD1L2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000011/2 (GnomAD_exomes)
HGVS:: NC_000018.10:g.57147477C>A, NC_000018.9:g.54814708C>A, NM_001257964.2:c.165C>A, NM_001257964.1:c.165C>A, NM_175906.2:c.165C>A, NR_033372.1:n.416C>A, NM_175906.1:c.165C>A, NP_001244893.1:p.Phe55Leu

Select item 14741293306.

rs1474129330 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:57147666 (GRCh38)
18:54814897 (GRCh37)
Canonical SPDI:: NC_000018.10:57147665:G:A
Gene:: BOD1L2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.57147666G>A, NC_000018.9:g.54814897G>A, NM_001257964.2:c.354G>A, NM_001257964.1:c.354G>A, NM_175906.2:c.354G>A, NR_033372.1:n.605G>A, NM_175906.1:c.354G>A

Select item 14727101407.

rs1472710140 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 18:57147408 (GRCh38)
18:54814639 (GRCh37)
Canonical SPDI:: NC_000018.10:57147407:C:A,NC_000018.10:57147407:C:T
Gene:: BOD1L2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000018.10:g.57147408C>A, NC_000018.10:g.57147408C>T, NC_000018.9:g.54814639C>A, NC_000018.9:g.54814639C>T, NM_001257964.2:c.96C>A, NM_001257964.2:c.96C>T, NM_001257964.1:c.96C>A, NM_001257964.1:c.96C>T, NM_175906.2:c.96C>A, NM_175906.2:c.96C>T, NR_033372.1:n.347C>A, NR_033372.1:n.347C>T, NM_175906.1:c.96C>A, NM_175906.1:c.96C>T

Select item 14649427358.

rs1464942735 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:57147781 (GRCh38)
18:54815012 (GRCh37)
Canonical SPDI:: NC_000018.10:57147780:C:T
Gene:: BOD1L2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.57147781C>T, NC_000018.9:g.54815012C>T, NM_001257964.2:c.469C>T, NM_001257964.1:c.469C>T, NM_175906.2:c.469C>T, NR_033372.1:n.720C>T, NM_175906.1:c.469C>T, NP_001244893.1:p.Pro157Ser

Select item 14604566529.

rs1460456652 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:57147625 (GRCh38)
18:54814856 (GRCh37)
Canonical SPDI:: NC_000018.10:57147624:A:G
Gene:: BOD1L2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000018.10:g.57147625A>G, NC_000018.9:g.54814856A>G, NM_001257964.2:c.313A>G, NM_001257964.1:c.313A>G, NM_175906.2:c.313A>G, NR_033372.1:n.564A>G, NM_175906.1:c.313A>G, NP_001244893.1:p.Ser105Gly

Select item 145967150210.

rs1459671502 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:57147615 (GRCh38)
18:54814846 (GRCh37)
Canonical SPDI:: NC_000018.10:57147614:T:C
Gene:: BOD1L2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.57147615T>C, NC_000018.9:g.54814846T>C, NM_001257964.2:c.303T>C, NM_001257964.1:c.303T>C, NM_175906.2:c.303T>C, NR_033372.1:n.554T>C, NM_175906.1:c.303T>C

Select item 145920089611.

rs1459200896 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CGGCAGCGGCGG [Show Flanks]
Chromosome:: 18:57147325 (GRCh38)
18:54814557 (GRCh37)
Canonical SPDI:: NC_000018.10:57147325:GCGGCGGCGGCAGCGGCGG:GCGGCGGCGGCAGCGGCGGCGGCAGCGGCGG
Gene:: BOD1L2 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_insertion
HGVS:: NC_000018.10:g.57147333_57147344dup, NC_000018.9:g.54814564_54814575dup, NM_001257964.2:c.21_32dup, NM_001257964.1:c.21_32dup, NM_175906.2:c.21_32dup, NR_033372.1:n.272_283dup, NM_175906.1:c.21_32dup, NP_001244893.1:p.Gly8_Gly11dup

Select item 145855831412.

rs1458558314 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 18:57147685 (GRCh38)
18:54814916 (GRCh37)
Canonical SPDI:: NC_000018.10:57147684:G:C
Gene:: BOD1L2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.57147685G>C, NC_000018.9:g.54814916G>C, NM_001257964.2:c.373G>C, NM_001257964.1:c.373G>C, NM_175906.2:c.373G>C, NR_033372.1:n.624G>C, NM_175906.1:c.373G>C, NP_001244893.1:p.Asp125His

Select item 145839037713.

rs1458390377 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:57147778 (GRCh38)
18:54815009 (GRCh37)
Canonical SPDI:: NC_000018.10:57147777:C:T
Gene:: BOD1L2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000018.10:g.57147778C>T, NC_000018.9:g.54815009C>T, NM_001257964.2:c.466C>T, NM_001257964.1:c.466C>T, NM_175906.2:c.466C>T, NR_033372.1:n.717C>T, NM_175906.1:c.466C>T, NP_001244893.1:p.Pro156Ser

Select item 145655415214.

rs1456554152 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:57147555 (GRCh38)
18:54814786 (GRCh37)
Canonical SPDI:: NC_000018.10:57147554:G:A
Gene:: BOD1L2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000018.10:g.57147555G>A, NC_000018.9:g.54814786G>A, NM_001257964.2:c.243G>A, NM_001257964.1:c.243G>A, NM_175906.2:c.243G>A, NR_033372.1:n.494G>A, NM_175906.1:c.243G>A

Select item 144899387715.

rs1448993877 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:57147757 (GRCh38)
18:54814988 (GRCh37)
Canonical SPDI:: NC_000018.10:57147756:G:A
Gene:: BOD1L2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000624/13 (ALFA)
A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000018.10:g.57147757G>A, NC_000018.9:g.54814988G>A, NM_001257964.2:c.445G>A, NM_001257964.1:c.445G>A, NM_175906.2:c.445G>A, NR_033372.1:n.696G>A, NM_175906.1:c.445G>A, NP_001244893.1:p.Glu149Lys

Select item 144853084116.

rs1448530841 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 18:57147424 (GRCh38)
18:54814655 (GRCh37)
Canonical SPDI:: NC_000018.10:57147423:C:G
Gene:: BOD1L2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000018.10:g.57147424C>G, NC_000018.9:g.54814655C>G, NM_001257964.2:c.112C>G, NM_001257964.1:c.112C>G, NM_175906.2:c.112C>G, NR_033372.1:n.363C>G, NM_175906.1:c.112C>G, NP_001244893.1:p.Leu38Val

Select item 143964738317.

rs1439647383 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 18:57147317 (GRCh38)
18:54814549 (GRCh37)
Canonical SPDI:: NC_000018.10:57147317:GG:GGG
Gene:: BOD1L2 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGG=0./0 (ALFA)
G=0.000053/14 (TOPMED)
G=0.000101/14 (GnomAD)
G=0.000408/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.57147319dup, NC_000018.9:g.54814550dup, NM_001257964.2:c.7dup, NM_001257964.1:c.7dup, NM_175906.2:c.7dup, NR_033372.1:n.258dup, NM_175906.1:c.7dup, NP_001244893.1:p.Asp3fs

Select item 143571971918.

rs1435719719 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:57147482 (GRCh38)
18:54814713 (GRCh37)
Canonical SPDI:: NC_000018.10:57147481:G:A
Gene:: BOD1L2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000018.10:g.57147482G>A, NC_000018.9:g.54814713G>A, NM_001257964.2:c.170G>A, NM_001257964.1:c.170G>A, NM_175906.2:c.170G>A, NR_033372.1:n.421G>A, NM_175906.1:c.170G>A, NP_001244893.1:p.Arg57Gln

Select item 143109720919.

rs1431097209 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:57147417 (GRCh38)
18:54814648 (GRCh37)
Canonical SPDI:: NC_000018.10:57147416:C:T
Gene:: BOD1L2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.57147417C>T, NC_000018.9:g.54814648C>T, NM_001257964.2:c.105C>T, NM_001257964.1:c.105C>T, NM_175906.2:c.105C>T, NR_033372.1:n.356C>T, NM_175906.1:c.105C>T

Select item 142918146020.

rs1429181460 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:57147699 (GRCh38)
18:54814930 (GRCh37)
Canonical SPDI:: NC_000018.10:57147698:C:T
Gene:: BOD1L2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.57147699C>T, NC_000018.9:g.54814930C>T, NM_001257964.2:c.387C>T, NM_001257964.1:c.387C>T, NM_175906.2:c.387C>T, NR_033372.1:n.638C>T, NM_175906.1:c.387C>T

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