SNP Links for Gene (Select 91687) - SNP

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Select item 14909851121.

rs1490985112 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:173807479 (GRCh38)
1:173776617 (GRCh37)
Canonical SPDI:: NC_000001.11:173807478:T:C
Gene:: CENPL (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.173807479T>C, NC_000001.10:g.173776617T>C, NM_033319.4:c.208A>G, NM_033319.3:c.208A>G, NM_001127181.3:c.208A>G, NM_001127181.2:c.208A>G, NM_001171182.2:c.208A>G, NM_001171182.1:c.208A>G, NM_001387285.1:c.208A>G, NM_001387284.1:c.208A>G, NM_001387289.1:c.208A>G, NR_170629.1:n.981A>G, NR_170627.1:n.981A>G, NM_001387288.1:c.208A>G, NM_001387287.1:c.208A>G, NM_001387291.1:c.208A>G, NM_001387286.1:c.208A>G, NR_170628.1:n.981A>G, NM_001387290.1:c.208A>G, NM_001387293.1:c.208A>G, NM_001387292.1:c.208A>G, NP_201576.1:p.Lys70Glu, NP_001120653.1:p.Lys70Glu, NP_001164653.1:p.Lys70Glu, NP_001374214.1:p.Lys70Glu, NP_001374213.1:p.Lys70Glu, NP_001374218.1:p.Lys70Glu, NP_001374217.1:p.Lys70Glu, NP_001374216.1:p.Lys70Glu, NP_001374220.1:p.Lys70Glu, NP_001374215.1:p.Lys70Glu, NP_001374219.1:p.Lys70Glu, NP_001374222.1:p.Lys70Glu, NP_001374221.1:p.Lys70Glu

Select item 14909566722.

rs1490956672 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:173822781 (GRCh38)
1:173791919 (GRCh37)
Canonical SPDI:: NC_000001.11:173822780:A:G
Gene:: DARS2 (Varview), CENPL (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000001.11:g.173822781A>G, NC_000001.10:g.173791919A>G, NG_016138.1:g.3123A>G

Select item 14907511543.

rs1490751154 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:173812989 (GRCh38)
1:173782127 (GRCh37)
Canonical SPDI:: NC_000001.11:173812988:T:G
Gene:: CENPL (Varview)
Functional Consequence:: intron_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_000001.11:g.173812989T>G, NC_000001.10:g.173782127T>G

Select item 14906572824.

rs1490657282 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:173805177 (GRCh38)
1:173774315 (GRCh37)
Canonical SPDI:: NC_000001.11:173805176:A:C
Gene:: CENPL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.173805177A>C, NC_000001.10:g.173774315A>C

Select item 14906132885.

rs1490613288 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:173811799 (GRCh38)
1:173780937 (GRCh37)
Canonical SPDI:: NC_000001.11:173811798:C:T
Gene:: CENPL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
T=0.000106/2 (TOMMO)
HGVS:: NC_000001.11:g.173811799C>T, NC_000001.10:g.173780937C>T

Select item 14903062666.

rs1490306266 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:173819755 (GRCh38)
1:173788893 (GRCh37)
Canonical SPDI:: NC_000001.11:173819754:G:A
Gene:: CENPL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000036/5 (GnomAD)
A=0.000042/11 (TOPMED)
HGVS:: NC_000001.11:g.173819755G>A, NC_000001.10:g.173788893G>A, NG_016138.1:g.97G>A

Select item 14899907367.

rs1489990736 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:173811251 (GRCh38)
1:173780389 (GRCh37)
Canonical SPDI:: NC_000001.11:173811250:G:A
Gene:: CENPL (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_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_000001.11:g.173811251G>A, NC_000001.10:g.173780389G>A, NM_033319.4:c.49C>T, NM_033319.3:c.49C>T, NM_001127181.3:c.49C>T, NM_001127181.2:c.49C>T, NM_001171182.2:c.49C>T, NM_001171182.1:c.49C>T, NM_001387285.1:c.49C>T, NM_001387284.1:c.49C>T, NM_001387289.1:c.49C>T, NR_170629.1:n.822C>T, NR_170627.1:n.822C>T, NM_001387288.1:c.49C>T, NR_170626.1:n.1014C>T, NM_001387287.1:c.49C>T, NM_001387291.1:c.49C>T, NM_001387286.1:c.49C>T, NR_170628.1:n.822C>T, NM_001387290.1:c.49C>T, NM_001387293.1:c.49C>T, NM_001387292.1:c.49C>T, NP_201576.1:p.Pro17Ser, NP_001120653.1:p.Pro17Ser, NP_001164653.1:p.Pro17Ser, NP_001374214.1:p.Pro17Ser, NP_001374213.1:p.Pro17Ser, NP_001374218.1:p.Pro17Ser, NP_001374217.1:p.Pro17Ser, NP_001374216.1:p.Pro17Ser, NP_001374220.1:p.Pro17Ser, NP_001374215.1:p.Pro17Ser, NP_001374219.1:p.Pro17Ser, NP_001374222.1:p.Pro17Ser, NP_001374221.1:p.Pro17Ser

Select item 14899029798.

rs1489902979 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:173814390 (GRCh38)
1:173783528 (GRCh37)
Canonical SPDI:: NC_000001.11:173814389:C:G,NC_000001.11:173814389:C:T
Gene:: CENPL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000029/4 (GnomAD)
T=0.00003/8 (TOPMED)
HGVS:: NC_000001.11:g.173814390C>G, NC_000001.11:g.173814390C>T, NC_000001.10:g.173783528C>G, NC_000001.10:g.173783528C>T

Select item 14898749849.

rs1489874984 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 1:173826439 (GRCh38)
1:173795577 (GRCh37)
Canonical SPDI:: NC_000001.11:173826438:A:C,NC_000001.11:173826438:A:G
Gene:: DARS2 (Varview), CENPL (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.173826439A>C, NC_000001.11:g.173826439A>G, NC_000001.10:g.173795577A>C, NC_000001.10:g.173795577A>G, NG_016138.1:g.6781A>C, NG_016138.1:g.6781A>G

Select item 148980184010.

rs1489801840 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:173820165 (GRCh38)
1:173789303 (GRCh37)
Canonical SPDI:: NC_000001.11:173820164:G:C
Gene:: CENPL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.173820165G>C, NC_000001.10:g.173789303G>C, NG_016138.1:g.507G>C

Select item 148947562811.

rs1489475628 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:173821656 (GRCh38)
1:173790794 (GRCh37)
Canonical SPDI:: NC_000001.11:173821655:T:C
Gene:: CENPL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.173821656T>C, NC_000001.10:g.173790794T>C, NG_016138.1:g.1998T>C

Select item 148915019612.

rs1489150196 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:173825913 (GRCh38)
1:173795051 (GRCh37)
Canonical SPDI:: NC_000001.11:173825912:G:A
Gene:: DARS2 (Varview), CENPL (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000084/1 (ALFA)
A=0.000029/4 (GnomAD)
A=0.000053/14 (TOPMED)
HGVS:: NC_000001.11:g.173825913G>A, NC_000001.10:g.173795051G>A, NG_016138.1:g.6255G>A

Select item 148905740313.

rs1489057403 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:173822666 (GRCh38)
1:173791804 (GRCh37)
Canonical SPDI:: NC_000001.11:173822665:C:A,NC_000001.11:173822665:C:T
Gene:: CENPL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.173822666C>A, NC_000001.11:g.173822666C>T, NC_000001.10:g.173791804C>A, NC_000001.10:g.173791804C>T, NG_016138.1:g.3008C>A, NG_016138.1:g.3008C>T

Select item 148903672014.

rs1489036720 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:173809136 (GRCh38)
1:173778274 (GRCh37)
Canonical SPDI:: NC_000001.11:173809135:T:C
Gene:: CENPL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.173809136T>C, NC_000001.10:g.173778274T>C

Select item 148898601815.

rs1488986018 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:173819669 (GRCh38)
1:173788807 (GRCh37)
Canonical SPDI:: NC_000001.11:173819668:T:C
Gene:: CENPL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.173819669T>C, NC_000001.10:g.173788807T>C, NG_016138.1:g.11T>C

Select item 148880423316.

rs1488804233 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:173817425 (GRCh38)
1:173786563 (GRCh37)
Canonical SPDI:: NC_000001.11:173817424:C:T
Gene:: CENPL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000001.11:g.173817425C>T, NC_000001.10:g.173786563C>T

Select item 148876980417.

rs1488769804 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:173813507 (GRCh38)
1:173782645 (GRCh37)
Canonical SPDI:: NC_000001.11:173813506:T:C
Gene:: CENPL (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.173813507T>C, NC_000001.10:g.173782645T>C

Select item 148872966818.

rs1488729668 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:173823836 (GRCh38)
1:173792974 (GRCh37)
Canonical SPDI:: NC_000001.11:173823835:C:T
Gene:: DARS2 (Varview), CENPL (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.173823836C>T, NC_000001.10:g.173792974C>T, NG_016138.1:g.4178C>T

Select item 148869142519.

rs1488691425 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:173811524 (GRCh38)
1:173780662 (GRCh37)
Canonical SPDI:: NC_000001.11:173811523:A:G
Gene:: CENPL (Varview)
Functional Consequence:: intron_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_000001.11:g.173811524A>G, NC_000001.10:g.173780662A>G

Select item 148865570720.

rs1488655707 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:173799366 (GRCh38)
1:173768504 (GRCh37)
Canonical SPDI:: NC_000001.11:173799365:A:C
Gene:: CENPL (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.173799366A>C, NC_000001.10:g.173768504A>C

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