SNP Links for Gene (Select 23371) - SNP

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Select item 14909875861.

rs1490987586 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:53057571 (GRCh38)
12:53451355 (GRCh37)
Canonical SPDI:: NC_000012.12:53057570:A:G
Gene:: TNS2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.53057571A>G, NC_000012.11:g.53451355A>G, XM_006719302.4:c.880A>G, XM_006719302.3:c.880A>G, XM_006719302.2:c.880A>G, XM_006719302.1:c.880A>G, NM_170754.4:c.850A>G, NM_170754.3:c.850A>G, NM_170754.2:c.850A>G, NM_015319.2:c.880A>G, XM_006719303.2:c.850A>G, XM_006719303.1:c.850A>G, XM_017019088.2:c.850A>G, XM_017019088.1:c.850A>G, XM_017019089.2:c.832A>G, XM_017019089.1:c.832A>G, NM_198316.2:c.478A>G, NM_198316.1:c.478A>G, XM_047428603.1:c.850A>G, XM_047428604.1:c.880A>G, XP_006719365.1:p.Ile294Val, NP_736610.2:p.Ile284Val, NP_056134.2:p.Ile294Val, XP_006719366.1:p.Ile284Val, XP_016874577.1:p.Ile284Val, XP_016874578.1:p.Ile278Val, NP_938072.1:p.Ile160Val, XP_047284559.1:p.Ile284Val, XP_047284560.1:p.Ile294Val

Select item 14909696522.

rs1490969652 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:53059208 (GRCh38)
12:53452992 (GRCh37)
Canonical SPDI:: NC_000012.12:53059207:C:T
Gene:: TNS2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000012.12:g.53059208C>T, NC_000012.11:g.53452992C>T, XM_006719302.4:c.1624C>T, XM_006719302.3:c.1624C>T, XM_006719302.2:c.1624C>T, XM_006719302.1:c.1624C>T, NM_170754.4:c.1567C>T, NM_170754.3:c.1567C>T, NM_170754.2:c.1567C>T, NM_015319.2:c.1597C>T, XM_006719303.2:c.1594C>T, XM_006719303.1:c.1594C>T, XM_017019088.2:c.1594C>T, XM_017019088.1:c.1594C>T, XM_017019089.2:c.1576C>T, XM_017019089.1:c.1576C>T, NM_198316.2:c.1195C>T, NM_198316.1:c.1195C>T, XM_047428603.1:c.1567C>T, XM_047428604.1:c.1624C>T, XP_006719365.1:p.Pro542Ser, NP_736610.2:p.Pro523Ser, NP_056134.2:p.Pro533Ser, XP_006719366.1:p.Pro532Ser, XP_016874577.1:p.Pro532Ser, XP_016874578.1:p.Pro526Ser, NP_938072.1:p.Pro399Ser, XP_047284559.1:p.Pro523Ser, XP_047284560.1:p.Pro542Ser

Select item 14906791003.

rs1490679100 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:53049607 (GRCh38)
12:53443391 (GRCh37)
Canonical SPDI:: NC_000012.12:53049606:C:A
Gene:: TNS2 (Varview), TNS2-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_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_000012.12:g.53049607C>A, NC_000012.11:g.53443391C>A

Select item 14906446474.

rs1490644647 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:53057374 (GRCh38)
12:53451158 (GRCh37)
Canonical SPDI:: NC_000012.12:53057373:G:C
Gene:: TNS2 (Varview), MIR6757 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_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_000012.12:g.53057374G>C, NC_000012.11:g.53451158G>C

Select item 14904488285.

rs1490448828 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:53050080 (GRCh38)
12:53443864 (GRCh37)
Canonical SPDI:: NC_000012.12:53050079:C:T
Gene:: TNS2 (Varview), TNS2-AS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_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_000012.12:g.53050080C>T, NC_000012.11:g.53443864C>T, NM_170754.4:c.-106C>T, NM_170754.3:c.-106C>T, NM_170754.2:c.-106C>T, XM_006719303.2:c.-106C>T, XM_006719303.1:c.-106C>T

Select item 14901535856.

rs1490153585 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:53056868 (GRCh38)
12:53450652 (GRCh37)
Canonical SPDI:: NC_000012.12:53056867:G:T
Gene:: TNS2 (Varview), MIR6757 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.53056868G>T, NC_000012.11:g.53450652G>T

Select item 14901229317.

rs1490122931 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 12:53055928 (GRCh38)
12:53449712 (GRCh37)
Canonical SPDI:: NC_000012.12:53055927:CCC:CC
Gene:: TNS2 (Varview), TNS2-AS1 (Varview), MIR6757 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000026/7 (TOPMED)
HGVS:: NC_000012.12:g.53055930del, NC_000012.11:g.53449714del

Select item 14898438708.

rs1489843870 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:53053940 (GRCh38)
12:53447724 (GRCh37)
Canonical SPDI:: NC_000012.12:53053939:C:T
Gene:: TNS2 (Varview), TNS2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.53053940C>T, NC_000012.11:g.53447724C>T

Select item 14896102979.

rs1489610297 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 12:53048538 (GRCh38)
12:53442322 (GRCh37)
Canonical SPDI:: NC_000012.12:53048537:C:G,NC_000012.12:53048537:C:T
Gene:: TNS2 (Varview), TNS2-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000012.12:g.53048538C>G, NC_000012.12:g.53048538C>T, NC_000012.11:g.53442322C>G, NC_000012.11:g.53442322C>T

Select item 148960846110.

rs1489608461 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 12:53062134 (GRCh38)
12:53455918 (GRCh37)
Canonical SPDI:: NC_000012.12:53062133:T:C,NC_000012.12:53062133:T:G
Gene:: TNS2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
C=0.000546/1 (Korea1K)
HGVS:: NC_000012.12:g.53062134T>C, NC_000012.12:g.53062134T>G, NC_000012.11:g.53455918T>C, NC_000012.11:g.53455918T>G

Select item 148951964111.

rs1489519641 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:53056379 (GRCh38)
12:53450163 (GRCh37)
Canonical SPDI:: NC_000012.12:53056378:C:G
Gene:: TNS2 (Varview), TNS2-AS1 (Varview), MIR6757 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.53056379C>G, NC_000012.11:g.53450163C>G

Select item 148945761112.

rs1489457611 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:53055388 (GRCh38)
12:53449172 (GRCh37)
Canonical SPDI:: NC_000012.12:53055387:A:G
Gene:: TNS2 (Varview), TNS2-AS1 (Varview), MIR6757 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000012.12:g.53055388A>G, NC_000012.11:g.53449172A>G

Select item 148866178513.

rs1488661785 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:53051165 (GRCh38)
12:53444949 (GRCh37)
Canonical SPDI:: NC_000012.12:53051164:A:C
Gene:: TNS2 (Varview), TNS2-AS1 (Varview)
Functional Consequence:: intron_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_000012.12:g.53051165A>C, NC_000012.11:g.53444949A>C

Select item 148865984814.

rs1488659848 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:53047305 (GRCh38)
12:53441089 (GRCh37)
Canonical SPDI:: NC_000012.12:53047304:T:G
Gene:: TNS2 (Varview), TNS2-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/2 (GnomAD)
HGVS:: NC_000012.12:g.53047305T>G, NC_000012.11:g.53441089T>G, XM_017019088.2:c.7T>G, XM_017019088.1:c.7T>G, XM_047428603.1:c.7T>G, XP_016874577.1:p.Trp3Gly, XP_047284559.1:p.Trp3Gly

Select item 148860807715.

rs1488608077 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 12:53047602 (GRCh38)
12:53441386 (GRCh37)
Canonical SPDI:: NC_000012.12:53047601:G:C,NC_000012.12:53047601:G:T
Gene:: TNS2 (Varview), TNS2-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000038/10 (TOPMED)
HGVS:: NC_000012.12:g.53047602G>C, NC_000012.12:g.53047602G>T, NC_000012.11:g.53441386G>C, NC_000012.11:g.53441386G>T

Select item 148853736416.

rs1488537364 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:53055939 (GRCh38)
12:53449723 (GRCh37)
Canonical SPDI:: NC_000012.12:53055938:G:A
Gene:: TNS2 (Varview), TNS2-AS1 (Varview), MIR6757 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000026/7 (TOPMED)
A=0.000546/1 (Korea1K)
HGVS:: NC_000012.12:g.53055939G>A, NC_000012.11:g.53449723G>A

Select item 148847526817.

rs1488475268 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 12:53054895 (GRCh38)
12:53448679 (GRCh37)
Canonical SPDI:: NC_000012.12:53054894:A:G,NC_000012.12:53054894:A:T
Gene:: TNS2 (Varview), TNS2-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.53054895A>G, NC_000012.12:g.53054895A>T, NC_000012.11:g.53448679A>G, NC_000012.11:g.53448679A>T

Select item 148842343118.

rs1488423431 [Homo sapiens]

Variant type:: DEL
Alleles:: CTCCT>- [Show Flanks]
Chromosome:: 12:53049180 (GRCh38)
12:53442964 (GRCh37)
Canonical SPDI:: NC_000012.12:53049179:CTCCT:
Gene:: TNS2 (Varview), TNS2-AS1 (Varview)
Functional Consequence:: intron_variant,frameshift_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.53049180_53049184del, NC_000012.11:g.53442964_53442968del, XM_006719302.4:c.37_41del, XM_006719302.3:c.37_41del, XM_006719302.2:c.37_41del, XM_006719302.1:c.37_41del, NM_015319.2:c.37_41del, XM_047428604.1:c.37_41del, XP_006719365.1:p.Leu13fs, NP_056134.2:p.Leu13fs, XP_047284560.1:p.Leu13fs

Select item 148840063819.

rs1488400638 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:53052798 (GRCh38)
12:53446582 (GRCh37)
Canonical SPDI:: NC_000012.12:53052797:T:G
Gene:: TNS2 (Varview), TNS2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00607/98 (ALFA)
G=0.00176/3 (Korea1K)
G=0.00233/10 (Estonian)
G=0.00451/68 (TOMMO)
G=0.08525/245 (KOREAN)
T=0.5/1 (SGDP_PRJ)
HGVS:: NC_000012.12:g.53052798T>G, NC_000012.11:g.53446582T>G