SNP Links for Gene (Select 100287098) - SNP

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Select item 14909275211.

rs1490927521 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 8:144439353 (GRCh38)
8:145664736 (GRCh37)
Canonical SPDI:: NC_000008.11:144439352:T:
Gene:: TONSL (Varview), TONSL-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.144439353del, NC_000008.10:g.145664736del

Select item 14901093052.

rs1490109305 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:144439734 (GRCh38)
8:145665117 (GRCh37)
Canonical SPDI:: NC_000008.11:144439733:C:T
Gene:: TONSL (Varview), TONSL-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000106/2 (TOMMO)
T=0.000546/1 (Korea1K)
HGVS:: NC_000008.11:g.144439734C>T, NC_000008.10:g.145665117C>T, NR_109770.1:n.1037C>T

Select item 14899476643.

rs1489947664 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:144440055 (GRCh38)
8:145665438 (GRCh37)
Canonical SPDI:: NC_000008.11:144440054:G:A
Gene:: TONSL (Varview), TONSL-AS1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000008.11:g.144440055G>A, NC_000008.10:g.145665438G>A, NM_013432.5:c.1446C>T, NM_013432.4:c.1446C>T, XM_011517048.3:c.474C>T, XM_011517048.2:c.474C>T, XM_011517048.1:c.474C>T, XM_011517049.3:c.438C>T, XM_011517049.2:c.438C>T, XM_011517049.1:c.438C>T, XM_011517050.3:c.1446C>T, XM_011517050.2:c.1446C>T, XM_011517050.1:c.1446C>T

Select item 14896782224.

rs1489678222 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 8:144433381 (GRCh38)
8:145658764 (GRCh37)
Canonical SPDI:: NC_000008.11:144433380:G:A,NC_000008.11:144433380:G:C
Gene:: TONSL (Varview), TONSL-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.144433381G>A, NC_000008.11:g.144433381G>C, NW_003315924.1:g.202640G>A, NW_003315924.1:g.202640G>C, NG_029456.2:g.164C>T, NG_029456.2:g.164C>G, NW_018654716.1:g.163983G>A, NW_018654716.1:g.163983G>C, NC_000008.10:g.145658764G>A, NC_000008.10:g.145658764G>C

Select item 14896267145.

rs1489626714 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 8:144434312 (GRCh38)
8:145659695 (GRCh37)
Canonical SPDI:: NC_000008.11:144434311:G:A,NC_000008.11:144434311:G:C,NC_000008.11:144434311:G:T
Gene:: TONSL (Varview), TONSL-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.144434312G>A, NC_000008.11:g.144434312G>C, NC_000008.11:g.144434312G>T, NW_003315924.1:g.203571G>A, NW_003315924.1:g.203571G>C, NW_003315924.1:g.203571G>T, NW_018654716.1:g.164914G>A, NW_018654716.1:g.164914G>C, NW_018654716.1:g.164914G>T, NC_000008.10:g.145659695G>A, NC_000008.10:g.145659695G>C, NC_000008.10:g.145659695G>T

Select item 14894705786.

rs1489470578 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 8:144438525 (GRCh38)
8:145663908 (GRCh37)
Canonical SPDI:: NC_000008.11:144438524:C:
Gene:: TONSL (Varview), TONSL-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.144438525del, NC_000008.10:g.145663908del, NM_013432.5:c.1599del, NM_013432.4:c.1599del, XM_011517048.3:c.627del, XM_011517048.2:c.627del, XM_011517048.1:c.627del, XM_011517049.3:c.591del, XM_011517049.2:c.591del, XM_011517049.1:c.591del, XM_011517050.3:c.1599del, XM_011517050.2:c.1599del, XM_011517050.1:c.1599del, NP_038460.4:p.His534fs, XP_011515350.1:p.His210fs, XP_011515351.1:p.His198fs, XP_011515352.1:p.His534fs

Select item 14893520217.

rs1489352021 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 8:144433792 (GRCh38)
8:145659175 (GRCh37)
Canonical SPDI:: NC_000008.11:144433791:A:T
Gene:: TONSL (Varview), TONSL-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000006/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000008.11:g.144433792A>T, NW_003315924.1:g.203051A>T, NW_018654716.1:g.164394A>T, NC_000008.10:g.145659175A>T

Select item 14893012048.

rs1489301204 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:144434774 (GRCh38)
8:145660157 (GRCh37)
Canonical SPDI:: NC_000008.11:144434773:G:A
Gene:: TONSL (Varview), TONSL-AS1 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000008.11:g.144434774G>A, NC_000008.10:g.145660157G>A

Select item 14890010969.

rs1489001096 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:144436756 (GRCh38)
8:145662139 (GRCh37)
Canonical SPDI:: NC_000008.11:144436755:C:T
Gene:: TONSL (Varview), TONSL-AS1 (Varview), MIR6893 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,splice_donor_variant,upstream_transcript_variant
HGVS:: NC_000008.11:g.144436756C>T, NC_000008.10:g.145662139C>T, NR_109770.1:n.279C>T

Select item 148883370710.

rs1488833707 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:144433881 (GRCh38)
8:145659264 (GRCh37)
Canonical SPDI:: NC_000008.11:144433880:G:A
Gene:: TONSL (Varview), TONSL-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000008.11:g.144433881G>A, NW_003315924.1:g.203140G>A, NW_018654716.1:g.164483G>A, NC_000008.10:g.145659264G>A

Select item 148777224311.

rs1487772243 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:144439229 (GRCh38)
8:145664612 (GRCh37)
Canonical SPDI:: NC_000008.11:144439228:C:T
Gene:: TONSL (Varview), TONSL-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.144439229C>T, NC_000008.10:g.145664612C>T

Select item 148765670712.

rs1487656707 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:144435172 (GRCh38)
8:145660555 (GRCh37)
Canonical SPDI:: NC_000008.11:144435171:T:C
Gene:: TONSL (Varview), TONSL-AS1 (Varview), MIR6893 (Varview)
Functional Consequence:: 500B_downstream_variant,splice_acceptor_variant,non_coding_transcript_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_000008.11:g.144435172T>C, NC_000008.10:g.145660555T>C, NR_109770.1:n.5T>C

Select item 148763228413.

rs1487632284 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:144439353 (GRCh38)
8:145664736 (GRCh37)
Canonical SPDI:: NC_000008.11:144439352:T:G
Gene:: TONSL (Varview), TONSL-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.144439353T>G, NC_000008.10:g.145664736T>G

Select item 148758267814.

rs1487582678 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:144437250 (GRCh38)
8:145662633 (GRCh37)
Canonical SPDI:: NC_000008.11:144437249:T:C
Gene:: TONSL (Varview), TONSL-AS1 (Varview), MIR6893 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.144437250T>C, NC_000008.10:g.145662633T>C

Select item 148710682815.

rs1487106828 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:144435598 (GRCh38)
8:145660981 (GRCh37)
Canonical SPDI:: NC_000008.11:144435597:C:T
Gene:: TONSL (Varview), TONSL-AS1 (Varview), MIR6893 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.144435598C>T, NC_000008.10:g.145660981C>T, NR_106953.1:n.22G>A

Select item 148705872116.

rs1487058721 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:144440305 (GRCh38)
8:145665688 (GRCh37)
Canonical SPDI:: NC_000008.11:144440304:G:A
Gene:: TONSL (Varview), TONSL-AS1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant
HGVS:: NC_000008.11:g.144440305G>A, NC_000008.10:g.145665688G>A

Select item 148588259517.

rs1485882595 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:144436501 (GRCh38)
8:145661884 (GRCh37)
Canonical SPDI:: NC_000008.11:144436500:C:T
Gene:: TONSL (Varview), TONSL-AS1 (Varview), MIR6893 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000008.11:g.144436501C>T, NC_000008.10:g.145661884C>T

Select item 148561861318.

rs1485618613 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:144435805 (GRCh38)
8:145661188 (GRCh37)
Canonical SPDI:: NC_000008.11:144435804:G:T
Gene:: TONSL (Varview), TONSL-AS1 (Varview), MIR6893 (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.144435805G>T, NC_000008.10:g.145661188G>T, NM_013432.5:c.2628C>A, NM_013432.4:c.2628C>A, XM_011517048.3:c.1656C>A, XM_011517048.2:c.1656C>A, XM_011517048.1:c.1656C>A, XM_011517049.3:c.1620C>A, XM_011517049.2:c.1620C>A, XM_011517049.1:c.1620C>A, XM_011517050.3:c.2628C>A, XM_011517050.2:c.2628C>A, XM_011517050.1:c.2628C>A

Select item 148503659319.

rs1485036593 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 8:144434988 (GRCh38)
8:145660371 (GRCh37)
Canonical SPDI:: NC_000008.11:144434987:C:A,NC_000008.11:144434987:C:G,NC_000008.11:144434987:C:T
Gene:: TONSL (Varview), TONSL-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.144434988C>A, NC_000008.11:g.144434988C>G, NC_000008.11:g.144434988C>T, NC_000008.10:g.145660371C>A, NC_000008.10:g.145660371C>G, NC_000008.10:g.145660371C>T

Select item 148502895820.

rs1485028958 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 8:144433773 (GRCh38)
8:145659156 (GRCh37)
Canonical SPDI:: NC_000008.11:144433772:A:
Gene:: TONSL (Varview), TONSL-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.144433773del, NW_003315924.1:g.203032del, NW_018654716.1:g.164375del, NC_000008.10:g.145659156del

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