SNP Links for Gene (Select 6909) - SNP

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Items: 1 to 20 of 3659

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Select item 14912464351.

rs1491246435 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 17:61406747 (GRCh38)
17:59484108 (GRCh37)
Canonical SPDI:: NC_000017.11:61406745:GTG:G
Gene:: TBX2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.05488/651 (ALFA)
-=0.01308/194 (TOMMO)
-=0.10718/8084 (GnomAD)
HGVS:: NC_000017.11:g.61406747_61406748del, NC_000017.10:g.59484108_59484109del

Select item 14911478702.

rs1491147870 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->GAGAGAGAG
Chromosome:: no mapping
Canonical SPDI:

Select item 14910401553.

rs1491040155 [Homo sapiens]

Variant type:: DELINS
Alleles:: CG>- [Show Flanks]
Chromosome:: 17:61404805 (GRCh38)
17:59482166 (GRCh37)
Canonical SPDI:: NC_000017.11:61404803:GCG:G
Gene:: TBX2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00118/14 (ALFA)
-=0.000956/253 (TOPMED)
HGVS:: NC_000017.11:g.61404805_61404806del, NC_000017.10:g.59482166_59482167del

Select item 14909815714.

rs1490981571 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:61402687 (GRCh38)
17:59480048 (GRCh37)
Canonical SPDI:: NC_000017.11:61402686:G:A
Gene:: TBX2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.61402687G>A, NC_000017.10:g.59480048G>A

Select item 14908902415.

rs1490890241 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 17:61404623 (GRCh38)
17:59481984 (GRCh37)
Canonical SPDI:: NC_000017.11:61404622:C:A,NC_000017.11:61404622:C:G,NC_000017.11:61404622:C:T
Gene:: TBX2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
A=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.61404623C>A, NC_000017.11:g.61404623C>G, NC_000017.11:g.61404623C>T, NC_000017.10:g.59481984C>A, NC_000017.10:g.59481984C>G, NC_000017.10:g.59481984C>T, NM_005994.4:c.905C>A, NM_005994.4:c.905C>G, NM_005994.4:c.905C>T, NM_005994.3:c.905C>A, NM_005994.3:c.905C>G, NM_005994.3:c.905C>T, NP_005985.3:p.Pro302Gln, NP_005985.3:p.Pro302Arg, NP_005985.3:p.Pro302Leu

Select item 14908635156.

rs1490863515 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:61405274 (GRCh38)
17:59482635 (GRCh37)
Canonical SPDI:: NC_000017.11:61405273:C:T
Gene:: TBX2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000017.11:g.61405274C>T, NC_000017.10:g.59482635C>T, NM_005994.4:c.1124C>T, NM_005994.3:c.1124C>T, NP_005985.3:p.Pro375Leu

Select item 14904519217.

rs1490451921 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 17:61402415 (GRCh38)
17:59479776 (GRCh37)
Canonical SPDI:: NC_000017.11:61402414:A:
Gene:: TBX2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.001104/18 (ALFA)
-=0.000431/12 (TOMMO)
-=0.011746/1526 (GnomAD)
HGVS:: NC_000017.11:g.61402415del, NC_000017.10:g.59479776del

Select item 14900348058.

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 14899837709.

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 148991301910.

rs1489913019 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:61402277 (GRCh38)
17:59479638 (GRCh37)
Canonical SPDI:: NC_000017.11:61402276:C:T
Gene:: TBX2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.61402277C>T, NC_000017.10:g.59479638C>T

Select item 148987053911.

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 148952666412.

rs1489526664 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:61402957 (GRCh38)
17:59480318 (GRCh37)
Canonical SPDI:: NC_000017.11:61402956:A:G
Gene:: TBX2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00015/1 (GnomAD)
HGVS:: NC_000017.11:g.61402957A>G, NC_000017.10:g.59480318A>G

Select item 148925183313.

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 148922992514.

rs1489229925 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 17:61405129 (GRCh38)
17:59482490 (GRCh37)
Canonical SPDI:: NC_000017.11:61405128:TT:T
Gene:: TBX2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.61405130del, NC_000017.10:g.59482491del

Select item 148905723115.

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 148890593416.

rs1488905934 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:61406582 (GRCh38)
17:59483943 (GRCh37)
Canonical SPDI:: NC_000017.11:61406581:G:A
Gene:: TBX2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.61406582G>A, NC_000017.10:g.59483943G>A

Select item 148889483917.

rs1488894839 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:61404234 (GRCh38)
17:59481595 (GRCh37)
Canonical SPDI:: NC_000017.11:61404233:C:A
Gene:: TBX2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.61404234C>A, NC_000017.10:g.59481595C>A

Select item 148857476418.

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 148850704219.

rs1488507042 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAG>- [Show Flanks]
Chromosome:: 17:61406287 (GRCh38)
17:59483648 (GRCh37)
Canonical SPDI:: NC_000017.11:61406284:AGAAG:AG
Gene:: TBX2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.61406287_61406289del, NC_000017.10:g.59483648_59483650del

Select item 148828164220.

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

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