SNP Links for Gene (Select 255480) - SNP

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Items: 1 to 20 of 1715

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Select item 14903031911.

rs1490303191 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:114410918 (GRCh38)
12:114848723 (GRCh37)
Canonical SPDI:: NC_000012.12:114410917:G:A
Gene:: TBX5-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.114410918G>A, NC_000012.11:g.114848723G>A, NG_007373.1:g.2525C>T, NR_038440.1:n.1724G>A

Select item 14893232682.

rs1489323268 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:114407406 (GRCh38)
12:114845211 (GRCh37)
Canonical SPDI:: NC_000012.12:114407405:A:G
Gene:: TBX5 (Varview), TBX5-AS1 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000035/1 (TOMMO)
G=0.000342/1 (KOREAN)
HGVS:: NC_000012.12:g.114407406A>G, NC_000012.11:g.114845211A>G, NG_007373.1:g.6037T>C, XM_017019912.2:c.-1068T>C, XM_017019912.1:c.-1068T>C

Select item 14892426093.

rs1489242609 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 12:114407774 (GRCh38)
12:114845579 (GRCh37)
Canonical SPDI:: NC_000012.12:114407773:AAA:AA
Gene:: TBX5 (Varview), TBX5-AS1 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.114407776del, NC_000012.11:g.114845581del, NG_007373.1:g.5669del, XM_017019912.2:c.-1436del, XM_017019912.1:c.-1436del

Select item 14886423964.

rs1488642396 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:114407961 (GRCh38)
12:114845766 (GRCh37)
Canonical SPDI:: NC_000012.12:114407960:G:A
Gene:: TBX5 (Varview), TBX5-AS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_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_000012.12:g.114407961G>A, NC_000012.11:g.114845766G>A, NG_007373.1:g.5482C>T, NM_080717.4:c.-151C>T, NM_080717.3:c.-151C>T, NM_080717.2:c.-151C>T, NM_000192.3:c.-186C>T, XM_017019912.2:c.-1623C>T, XM_017019912.1:c.-1623C>T

Select item 14885681435.

rs1488568143 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:114408674 (GRCh38)
12:114846479 (GRCh37)
Canonical SPDI:: NC_000012.12:114408673:G:A,NC_000012.12:114408673:G:C
Gene:: TBX5 (Varview), TBX5-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.114408674G>A, NC_000012.12:g.114408674G>C, NC_000012.11:g.114846479G>A, NC_000012.11:g.114846479G>C, NG_007373.1:g.4769C>T, NG_007373.1:g.4769C>G

Select item 14884381776.

rs1488438177 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:114409959 (GRCh38)
12:114847764 (GRCh37)
Canonical SPDI:: NC_000012.12:114409958:A:T
Gene:: TBX5 (Varview), TBX5-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
A=0.5/2 (SGDP_PRJ)
HGVS:: NC_000012.12:g.114409959A>T, NC_000012.11:g.114847764A>T, NG_007373.1:g.3484T>A, NR_038440.1:n.765A>T

Select item 14879129507.

rs1487912950 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 12:114412792 (GRCh38)
12:114850597 (GRCh37)
Canonical SPDI:: NC_000012.12:114412791:G:C,NC_000012.12:114412791:G:T
Gene:: TBX5-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000012.12:g.114412792G>C, NC_000012.12:g.114412792G>T, NC_000012.11:g.114850597G>C, NC_000012.11:g.114850597G>T, NG_007373.1:g.651C>G, NG_007373.1:g.651C>A, NR_038440.1:n.3598G>C, NR_038440.1:n.3598G>T

Select item 14877747388.

rs1487774738 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:114406816 (GRCh38)
12:114844621 (GRCh37)
Canonical SPDI:: NC_000012.12:114406815:T:A
Gene:: TBX5 (Varview), TBX5-AS1 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000012.12:g.114406816T>A, NC_000012.11:g.114844621T>A, NG_007373.1:g.6627A>T, XM_017019912.2:c.-478A>T, XM_017019912.1:c.-478A>T

Select item 14875402349.

rs1487540234 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:114410031 (GRCh38)
12:114847836 (GRCh37)
Canonical SPDI:: NC_000012.12:114410030:C:T
Gene:: TBX5 (Varview), TBX5-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.114410031C>T, NC_000012.11:g.114847836C>T, NG_007373.1:g.3412G>A, NR_038440.1:n.837C>T

Select item 148717125410.

rs1487171254 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 12:114411215 (GRCh38)
12:114849020 (GRCh37)
Canonical SPDI:: NC_000012.12:114411214:A:C,NC_000012.12:114411214:A:G
Gene:: TBX5-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000012.12:g.114411215A>C, NC_000012.12:g.114411215A>G, NC_000012.11:g.114849020A>C, NC_000012.11:g.114849020A>G, NG_007373.1:g.2228T>G, NG_007373.1:g.2228T>C, NR_038440.1:n.2021A>C, NR_038440.1:n.2021A>G

Select item 148668166311.

rs1486681663 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:114409932 (GRCh38)
12:114847737 (GRCh37)
Canonical SPDI:: NC_000012.12:114409931:A:G
Gene:: TBX5 (Varview), TBX5-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.114409932A>G, NC_000012.11:g.114847737A>G, NG_007373.1:g.3511T>C, NR_038440.1:n.738A>G

Select item 148659453012.

rs1486594530 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 12:114411013 (GRCh38)
12:114848818 (GRCh37)
Canonical SPDI:: NC_000012.12:114411012:T:A,NC_000012.12:114411012:T:C
Gene:: TBX5-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000012.12:g.114411013T>A, NC_000012.12:g.114411013T>C, NC_000012.11:g.114848818T>A, NC_000012.11:g.114848818T>C, NG_007373.1:g.2430A>T, NG_007373.1:g.2430A>G, NR_038440.1:n.1819T>A, NR_038440.1:n.1819T>C

Select item 148656829013.

rs1486568290 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:114407700 (GRCh38)
12:114845505 (GRCh37)
Canonical SPDI:: NC_000012.12:114407699:G:T
Gene:: TBX5 (Varview), TBX5-AS1 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000026/7 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000012.12:g.114407700G>T, NC_000012.11:g.114845505G>T, NG_007373.1:g.5743C>A, XM_017019912.2:c.-1362C>A, XM_017019912.1:c.-1362C>A

Select item 148632224014.

rs1486322240 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:114407519 (GRCh38)
12:114845324 (GRCh37)
Canonical SPDI:: NC_000012.12:114407518:T:G
Gene:: TBX5 (Varview), TBX5-AS1 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.114407519T>G, NC_000012.11:g.114845324T>G, NG_007373.1:g.5924A>C, XM_017019912.2:c.-1181A>C, XM_017019912.1:c.-1181A>C

Select item 148614875615.

rs1486148756 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:114411841 (GRCh38)
12:114849646 (GRCh37)
Canonical SPDI:: NC_000012.12:114411840:C:T
Gene:: TBX5-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.007/4 (NorthernSweden)
HGVS:: NC_000012.12:g.114411841C>T, NC_000012.11:g.114849646C>T, NG_007373.1:g.1602G>A, NR_038440.1:n.2647C>T

Select item 148604451116.

rs1486044511 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:114410579 (GRCh38)
12:114848384 (GRCh37)
Canonical SPDI:: NC_000012.12:114410578:T:C
Gene:: TBX5-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.114410579T>C, NC_000012.11:g.114848384T>C, NG_007373.1:g.2864A>G, NR_038440.1:n.1385T>C

Select item 148597158717.

rs1485971587 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:114406899 (GRCh38)
12:114844704 (GRCh37)
Canonical SPDI:: NC_000012.12:114406898:A:T
Gene:: TBX5 (Varview), TBX5-AS1 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.114406899A>T, NC_000012.11:g.114844704A>T, NG_007373.1:g.6544T>A, XM_017019912.2:c.-561T>A, XM_017019912.1:c.-561T>A

Select item 148558526618.

rs1485585266 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:114413116 (GRCh38)
12:114850921 (GRCh37)
Canonical SPDI:: NC_000012.12:114413115:T:C
Gene:: TBX5-AS1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.114413116T>C, NC_000012.11:g.114850921T>C, NG_007373.1:g.327A>G

Select item 148464421119.

rs1484644211 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:114411930 (GRCh38)
12:114849735 (GRCh37)
Canonical SPDI:: NC_000012.12:114411929:C:G
Gene:: TBX5-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.114411930C>G, NC_000012.11:g.114849735C>G, NG_007373.1:g.1513G>C, NR_038440.1:n.2736C>G

Select item 148362063320.

rs1483620633 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:114411828 (GRCh38)
12:114849633 (GRCh37)
Canonical SPDI:: NC_000012.12:114411827:G:A
Gene:: TBX5-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000012.12:g.114411828G>A, NC_000012.11:g.114849633G>A, NG_007373.1:g.1615C>T, NR_038440.1:n.2634G>A

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