SNP Links for Nucleotide (Select 545479172) - SNP

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Links from Nucleotide

Items: 1 to 20 of 139

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Select item 14828643141.

rs1482864314 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:14628899 (GRCh38)
20:14609545 (GRCh37)
Canonical SPDI:: NC_000020.11:14628898:G:A
Gene:: MACROD2 (Varview), MACROD2-IT1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000020.11:g.14628899G>A, NC_000020.10:g.14609545G>A, NG_054905.1:g.638400G>A, NR_104193.2:n.656G>A, NR_104193.1:n.658G>A

Select item 14811864772.

rs1481186477 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:14554426 (GRCh38)
20:14535072 (GRCh37)
Canonical SPDI:: NC_000020.11:14554425:G:A
Gene:: MACROD2 (Varview), MACROD2-IT1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.14554426G>A, NC_000020.10:g.14535072G>A, NG_054905.1:g.563927G>A, NR_104193.2:n.43G>A, NR_104193.1:n.43G>A

Select item 14619429633.

rs1461942963 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:14627097 (GRCh38)
20:14607743 (GRCh37)
Canonical SPDI:: NC_000020.11:14627096:C:T
Gene:: MACROD2 (Varview), MACROD2-IT1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.14627097C>T, NC_000020.10:g.14607743C>T, NG_054905.1:g.636598C>T, NR_104193.2:n.384C>T, NR_104193.1:n.386C>T

Select item 14556697584.

rs1455669758 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:14554415 (GRCh38)
20:14535061 (GRCh37)
Canonical SPDI:: NC_000020.11:14554414:G:T
Gene:: MACROD2 (Varview), MACROD2-IT1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000020.11:g.14554415G>T, NC_000020.10:g.14535061G>T, NG_054905.1:g.563916G>T, NR_104193.2:n.32G>T, NR_104193.1:n.32G>T

Select item 14514796695.

rs1451479669 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:14628717 (GRCh38)
20:14609363 (GRCh37)
Canonical SPDI:: NC_000020.11:14628716:G:T
Gene:: MACROD2 (Varview), MACROD2-IT1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000020.11:g.14628717G>T, NC_000020.10:g.14609363G>T, NG_054905.1:g.638218G>T, NR_104193.2:n.474G>T, NR_104193.1:n.476G>T

Select item 14491069736.

rs1449106973 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 20:14622946 (GRCh38)
20:14603592 (GRCh37)
Canonical SPDI:: NC_000020.11:14622945:T:G
Gene:: MACROD2 (Varview), MACROD2-IT1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
G=0.001092/2 (Korea1K)
G=0.001711/5 (KOREAN)
G=0.003716/62 (TOMMO)
HGVS:: NC_000020.11:g.14622946T>G, NC_000020.10:g.14603592T>G, NG_054905.1:g.632447T>G, NR_104193.2:n.282T>G, NR_104193.1:n.282T>G

Select item 14478790377.

rs1447879037 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 20:14628860 (GRCh38)
20:14609506 (GRCh37)
Canonical SPDI:: NC_000020.11:14628859:A:C
Gene:: MACROD2 (Varview), MACROD2-IT1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.14628860A>C, NC_000020.10:g.14609506A>C, NG_054905.1:g.638361A>C, NR_104193.2:n.617A>C, NR_104193.1:n.619A>C

Select item 14430111798.

rs1443011179 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 20:14622902 (GRCh38)
20:14603549 (GRCh37)
Canonical SPDI:: NC_000020.11:14622902::C
Gene:: MACROD2 (Varview), MACROD2-IT1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000021/3 (GnomAD)
HGVS:: NC_000020.11:g.14622902_14622903insC, NC_000020.10:g.14603548_14603549insC, NG_054905.1:g.632403_632404insC, NR_104193.2:n.238_239insC, NR_104193.1:n.238_239insC

Select item 14388330819.

rs1438833081 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 20:14622993 (GRCh38)
20:14603639 (GRCh37)
Canonical SPDI:: NC_000020.11:14622992:G:A,NC_000020.11:14622992:G:T
Gene:: MACROD2 (Varview), MACROD2-IT1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.14622993G>A, NC_000020.11:g.14622993G>T, NC_000020.10:g.14603639G>A, NC_000020.10:g.14603639G>T, NG_054905.1:g.632494G>A, NG_054905.1:g.632494G>T, NR_104193.2:n.329G>A, NR_104193.2:n.329G>T, NR_104193.1:n.329G>A, NR_104193.1:n.329G>T

Select item 143867593810.

rs1438675938 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 20:14621798 (GRCh38)
20:14602444 (GRCh37)
Canonical SPDI:: NC_000020.11:14621797:T:A,NC_000020.11:14621797:T:C
Gene:: MACROD2 (Varview), MACROD2-IT1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.14621798T>A, NC_000020.11:g.14621798T>C, NC_000020.10:g.14602444T>A, NC_000020.10:g.14602444T>C, NG_054905.1:g.631299T>A, NG_054905.1:g.631299T>C, NR_104193.2:n.78T>A, NR_104193.2:n.78T>C, NR_104193.1:n.78T>A, NR_104193.1:n.78T>C

Select item 143747778111.

rs1437477781 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:14628703 (GRCh38)
20:14609349 (GRCh37)
Canonical SPDI:: NC_000020.11:14628702:T:C
Gene:: MACROD2 (Varview), MACROD2-IT1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000020.11:g.14628703T>C, NC_000020.10:g.14609349T>C, NG_054905.1:g.638204T>C, NR_104193.2:n.460T>C, NR_104193.1:n.462T>C

Select item 143396966712.

rs1433969667 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:14622979 (GRCh38)
20:14603625 (GRCh37)
Canonical SPDI:: NC_000020.11:14622978:A:G
Gene:: MACROD2 (Varview), MACROD2-IT1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,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_000020.11:g.14622979A>G, NC_000020.10:g.14603625A>G, NG_054905.1:g.632480A>G, NR_104193.2:n.315A>G, NR_104193.1:n.315A>G

Select item 143176622313.

rs1431766223 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 20:14554416 (GRCh38)
20:14535062 (GRCh37)
Canonical SPDI:: NC_000020.11:14554415:C:G,NC_000020.11:14554415:C:T
Gene:: MACROD2 (Varview), MACROD2-IT1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000020.11:g.14554416C>G, NC_000020.11:g.14554416C>T, NC_000020.10:g.14535062C>G, NC_000020.10:g.14535062C>T, NG_054905.1:g.563917C>G, NG_054905.1:g.563917C>T, NR_104193.2:n.33C>G, NR_104193.2:n.33C>T, NR_104193.1:n.33C>G, NR_104193.1:n.33C>T

Select item 142995295314.

rs1429952953 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:14627085 (GRCh38)
20:14607731 (GRCh37)
Canonical SPDI:: NC_000020.11:14627084:C:T
Gene:: MACROD2 (Varview), MACROD2-IT1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.14627085C>T, NC_000020.10:g.14607731C>T, NG_054905.1:g.636586C>T, NR_104193.2:n.372C>T, NR_104193.1:n.374C>T

Select item 142969388015.

rs1429693880 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:14621923 (GRCh38)
20:14602569 (GRCh37)
Canonical SPDI:: NC_000020.11:14621922:T:C
Gene:: MACROD2 (Varview), MACROD2-IT1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000020.11:g.14621923T>C, NC_000020.10:g.14602569T>C, NG_054905.1:g.631424T>C, NR_104193.2:n.203T>C, NR_104193.1:n.203T>C

Select item 142877156016.

rs1428771560 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:14628714 (GRCh38)
20:14609360 (GRCh37)
Canonical SPDI:: NC_000020.11:14628713:G:A
Gene:: MACROD2 (Varview), MACROD2-IT1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.14628714G>A, NC_000020.10:g.14609360G>A, NG_054905.1:g.638215G>A, NR_104193.2:n.471G>A, NR_104193.1:n.473G>A

Select item 142342351917.

rs1423423519 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:14628736 (GRCh38)
20:14609382 (GRCh37)
Canonical SPDI:: NC_000020.11:14628735:C:T
Gene:: MACROD2 (Varview), MACROD2-IT1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000020.11:g.14628736C>T, NC_000020.10:g.14609382C>T, NG_054905.1:g.638237C>T, NR_104193.2:n.493C>T, NR_104193.1:n.495C>T

Select item 141526170218.

rs1415261702 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:14628889 (GRCh38)
20:14609535 (GRCh37)
Canonical SPDI:: NC_000020.11:14628888:C:G
Gene:: MACROD2 (Varview), MACROD2-IT1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.14628889C>G, NC_000020.10:g.14609535C>G, NG_054905.1:g.638390C>G, NR_104193.2:n.646C>G, NR_104193.1:n.648C>G

Select item 141440161119.

rs1414401611 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 20:14628724 (GRCh38)
20:14609370 (GRCh37)
Canonical SPDI:: NC_000020.11:14628723:A:G,NC_000020.11:14628723:A:T
Gene:: MACROD2 (Varview), MACROD2-IT1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,non_coding_transcript_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_000020.11:g.14628724A>G, NC_000020.11:g.14628724A>T, NC_000020.10:g.14609370A>G, NC_000020.10:g.14609370A>T, NG_054905.1:g.638225A>G, NG_054905.1:g.638225A>T, NR_104193.2:n.481A>G, NR_104193.2:n.481A>T, NR_104193.1:n.483A>G, NR_104193.1:n.483A>T

Select item 140340045020.

rs1403400450 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:14622911 (GRCh38)
20:14603557 (GRCh37)
Canonical SPDI:: NC_000020.11:14622910:G:A
Gene:: MACROD2 (Varview), MACROD2-IT1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.14622911G>A, NC_000020.10:g.14603557G>A, NG_054905.1:g.632412G>A, NR_104193.2:n.247G>A, NR_104193.1:n.247G>A