SNP Links for Gene (Select 103689912) - SNP

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Items: 1 to 20 of 2384

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Select item 14904212291.

rs1490421229 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:61395499 (GRCh38)
17:59472860 (GRCh37)
Canonical SPDI:: NC_000017.11:61395498:C:G
Gene:: TBX2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.61395499C>G, NC_000017.10:g.59472860C>G

Select item 14901898792.

rs1490189879 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:61396598 (GRCh38)
17:59473959 (GRCh37)
Canonical SPDI:: NC_000017.11:61396597:C:A,NC_000017.11:61396597:C:T
Gene:: TBX2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.61396598C>A, NC_000017.11:g.61396598C>T, NC_000017.10:g.59473959C>A, NC_000017.10:g.59473959C>T

Select item 14900348053.

rs1490034805 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:61399849 (GRCh38)
17:59477210 (GRCh37)
Canonical SPDI:: NC_000017.11:61399848:G:T
Gene:: TBX2 (Varview), TBX2-AS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.61399849G>T, NC_000017.10:g.59477210G>T, NG_052563.1:g.1150G>T, NM_005994.4:c.-328G>T

Select item 14899837704.

rs1489983770 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 17:61400769 (GRCh38)
17:59478130 (GRCh37)
Canonical SPDI:: NC_000017.11:61400768:C:
Gene:: TBX2 (Varview), TBX2-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.61400769del, NC_000017.10:g.59478130del

Select item 14898705395.

rs1489870539 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:61399004 (GRCh38)
17:59476365 (GRCh37)
Canonical SPDI:: NC_000017.11:61399003:T:C
Gene:: TBX2 (Varview), TBX2-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.61399004T>C, NC_000017.10:g.59476365T>C, NG_052563.1:g.305T>C

Select item 14894106226.

rs1489410622 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:61394129 (GRCh38)
17:59471490 (GRCh37)
Canonical SPDI:: NC_000017.11:61394128:C:T
Gene:: TBX2-AS1 (Varview)
Functional Consequence:: intron_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_000017.11:g.61394129C>T, NC_000017.10:g.59471490C>T

Select item 14892518337.

rs1489251833 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CC [Show Flanks]
Chromosome:: 17:61398703 (GRCh38)
17:59476065 (GRCh37)
Canonical SPDI:: NC_000017.11:61398703:C:CCC
Gene:: TBX2 (Varview), TBX2-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCC=0.00143/17 (ALFA)
CC=0.00004/1 (TOMMO)
CC=0.00615/230 (GnomAD)
HGVS:: NC_000017.11:g.61398704_61398705insCC, NC_000017.10:g.59476065_59476066insCC, NG_052563.1:g.5_6insCC

Select item 14890572318.

rs1489057231 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:61400284 (GRCh38)
17:59477645 (GRCh37)
Canonical SPDI:: NC_000017.11:61400283:C:A
Gene:: TBX2 (Varview), TBX2-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.61400284C>A, NC_000017.10:g.59477645C>A, NM_005994.4:c.108C>A, NM_005994.3:c.108C>A

Select item 14888203099.

rs1488820309 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:61393653 (GRCh38)
17:59471014 (GRCh37)
Canonical SPDI:: NC_000017.11:61393652:C:A
Gene:: TBX2-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.61393653C>A, NC_000017.10:g.59471014C>A, NR_125749.1:n.665G>T, NR_125750.1:n.580G>T, NR_125751.1:n.463G>T

Select item 148857476410.

rs1488574764 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:61399453 (GRCh38)
17:59476814 (GRCh37)
Canonical SPDI:: NC_000017.11:61399452:C:T
Gene:: TBX2 (Varview), TBX2-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_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_000017.11:g.61399453C>T, NC_000017.10:g.59476814C>T, NG_052563.1:g.754C>T, NR_125749.1:n.154G>A, NR_125750.1:n.154G>A, NR_125751.1:n.154G>A

Select item 148828164211.

rs1488281642 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:61400341 (GRCh38)
17:59477702 (GRCh37)
Canonical SPDI:: NC_000017.11:61400340:G:C
Gene:: TBX2 (Varview), TBX2-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.61400341G>C, NC_000017.10:g.59477702G>C, NM_005994.4:c.165G>C, NM_005994.3:c.165G>C

Select item 148692606112.

rs1486926061 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:61395948 (GRCh38)
17:59473309 (GRCh37)
Canonical SPDI:: NC_000017.11:61395947:A:G
Gene:: TBX2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000026/7 (TOPMED)
HGVS:: NC_000017.11:g.61395948A>G, NC_000017.10:g.59473309A>G

Select item 148666646213.

rs1486666462 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACGCGCGCGCGCGC>- [Show Flanks]
Chromosome:: 17:61397903 (GRCh38)
17:59475264 (GRCh37)
Canonical SPDI:: NC_000017.11:61397901:CACGCGCGCGCGCGC:C
Gene:: TBX2 (Varview), TBX2-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.005058/60 (ALFA)
-=0.000566/9 (TOMMO)
-=0.006293/684 (GnomAD)
HGVS:: NC_000017.11:g.61397903_61397916del, NC_000017.10:g.59475264_59475277del

Select item 148660329314.

rs1486603293 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:61401480 (GRCh38)
17:59478841 (GRCh37)
Canonical SPDI:: NC_000017.11:61401479:C:G
Gene:: TBX2 (Varview), TBX2-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000066/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000017.11:g.61401480C>G, NC_000017.10:g.59478841C>G

Select item 148635258915.

rs1486352589 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:61396403 (GRCh38)
17:59473764 (GRCh37)
Canonical SPDI:: NC_000017.11:61396402:G:A
Gene:: TBX2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.61396403G>A, NC_000017.10:g.59473764G>A

Select item 148559701316.

rs1485597013 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 17:61399013 (GRCh38)
17:59476374 (GRCh37)
Canonical SPDI:: NC_000017.11:61399012:G:
Gene:: TBX2 (Varview), TBX2-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000017.11:g.61399013del, NC_000017.10:g.59476374del, NG_052563.1:g.314del

Select item 148486200517.

rs1484862005 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:61393144 (GRCh38)
17:59470505 (GRCh37)
Canonical SPDI:: NC_000017.11:61393143:T:C
Gene:: BCAS3 (Varview), TBX2-AS1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.61393144T>C, NC_000017.10:g.59470505T>C

Select item 148449046718.

rs1484490467 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:61393666 (GRCh38)
17:59471027 (GRCh37)
Canonical SPDI:: NC_000017.11:61393665:T:C
Gene:: TBX2-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000142/2 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.61393666T>C, NC_000017.10:g.59471027T>C, NR_125749.1:n.652A>G, NR_125750.1:n.567A>G, NR_125751.1:n.450A>G

Select item 148384847319.

rs1483848473 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 17:61396126 (GRCh38)
17:59473487 (GRCh37)
Canonical SPDI:: NC_000017.11:61396125:A:C,NC_000017.11:61396125:A:G
Gene:: TBX2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000017.11:g.61396126A>C, NC_000017.11:g.61396126A>G, NC_000017.10:g.59473487A>C, NC_000017.10:g.59473487A>G

Select item 148380521420.

rs1483805214 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:61400601 (GRCh38)
17:59477962 (GRCh37)
Canonical SPDI:: NC_000017.11:61400600:C:T
Gene:: TBX2 (Varview), TBX2-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: T=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.61400601C>T, NC_000017.10:g.59477962C>T

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