SNP Links for Nucleotide (Select 291084510) - SNP

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Links from Nucleotide

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Select item 14908019481.

rs1490801948 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:88992549 (GRCh38)
10:90752306 (GRCh37)
Canonical SPDI:: NC_000010.11:88992548:A:G
Gene:: ACTA2 (Varview), FAS (Varview), FAS-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000026/7 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000010.11:g.88992549A>G, NC_000010.10:g.90752306A>G, NG_009089.2:g.7019A>G, NG_011541.1:g.3842T>C, NR_028371.1:n.427T>C

Select item 14899708682.

rs1489970868 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 10:88991923 (GRCh38)
10:90751680 (GRCh37)
Canonical SPDI:: NC_000010.11:88991922:TTTT:TTT
Gene:: ACTA2 (Varview), FAS (Varview), FAS-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TTT=0.000071/1 (ALFA)
-=0.000023/6 (TOPMED)
HGVS:: NC_000010.11:g.88991926del, NC_000010.10:g.90751683del, NG_009089.2:g.6396del, NG_011541.1:g.4468del, NR_028371.1:n.1053del

Select item 14813097573.

rs1481309757 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:88992655 (GRCh38)
10:90752412 (GRCh37)
Canonical SPDI:: NC_000010.11:88992654:C:T
Gene:: ACTA2 (Varview), FAS (Varview), FAS-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.88992655C>T, NC_000010.10:g.90752412C>T, NG_009089.2:g.7125C>T, NG_011541.1:g.3736G>A, NR_028371.1:n.321G>A

Select item 14796466724.

rs1479646672 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 10:88992007 (GRCh38)
10:90751765 (GRCh37)
Canonical SPDI:: NC_000010.11:88992007:A:AA
Gene:: ACTA2 (Varview), FAS (Varview), FAS-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.88992008dup, NC_000010.10:g.90751765dup, NG_009089.2:g.6478dup, NG_011541.1:g.4383dup, NR_028371.1:n.968dup

Select item 14792737035.

rs1479273703 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:88992600 (GRCh38)
10:90752357 (GRCh37)
Canonical SPDI:: NC_000010.11:88992599:T:G
Gene:: ACTA2 (Varview), FAS (Varview), FAS-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000026/7 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000010.11:g.88992600T>G, NC_000010.10:g.90752357T>G, NG_009089.2:g.7070T>G, NG_011541.1:g.3791A>C, NR_028371.1:n.376A>C

Select item 14757725366.

rs1475772536 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:88992192 (GRCh38)
10:90751949 (GRCh37)
Canonical SPDI:: NC_000010.11:88992191:T:C
Gene:: ACTA2 (Varview), FAS (Varview), FAS-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_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_000010.11:g.88992192T>C, NC_000010.10:g.90751949T>C, NG_009089.2:g.6662T>C, NG_011541.1:g.4199A>G, NR_028371.1:n.784A>G

Select item 14728861167.

rs1472886116 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:88992905 (GRCh38)
10:90752662 (GRCh37)
Canonical SPDI:: NC_000010.11:88992904:A:T
Gene:: ACTA2 (Varview), FAS (Varview), FAS-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000010.11:g.88992905A>T, NC_000010.10:g.90752662A>T, NG_009089.2:g.7375A>T, NG_011541.1:g.3486T>A, NR_028371.1:n.71T>A

Select item 14718216698.

rs1471821669 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 10:88992019 (GRCh38)
10:90751777 (GRCh37)
Canonical SPDI:: NC_000010.11:88992019:AA:AAA
Gene:: ACTA2 (Varview), FAS (Varview), FAS-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000010.11:g.88992021dup, NC_000010.10:g.90751778dup, NG_009089.2:g.6491dup, NG_011541.1:g.4371dup, NR_028371.1:n.956dup

Select item 14709204299.

rs1470920429 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:88991898 (GRCh38)
10:90751655 (GRCh37)
Canonical SPDI:: NC_000010.11:88991897:G:A
Gene:: ACTA2 (Varview), FAS (Varview), FAS-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.88991898G>A, NC_000010.10:g.90751655G>A, NG_009089.2:g.6368G>A, NG_011541.1:g.4493C>T, NR_028371.1:n.1078C>T

Select item 146539072710.

rs1465390727 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:88991784 (GRCh38)
10:90751541 (GRCh37)
Canonical SPDI:: NC_000010.11:88991783:T:C
Gene:: ACTA2 (Varview), FAS (Varview), FAS-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.88991784T>C, NC_000010.10:g.90751541T>C, NG_009089.2:g.6254T>C, NG_011541.1:g.4607A>G, NR_028371.1:n.1192A>G

Select item 146173275211.

rs1461732752 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:88992933 (GRCh38)
10:90752690 (GRCh37)
Canonical SPDI:: NC_000010.11:88992932:G:A
Gene:: ACTA2 (Varview), FAS (Varview), FAS-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_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_000010.11:g.88992933G>A, NC_000010.10:g.90752690G>A, NG_009089.2:g.7403G>A, NG_011541.1:g.3458C>T, NR_028371.1:n.43C>T

Select item 146144042412.

rs1461440424 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:88991642 (GRCh38)
10:90751399 (GRCh37)
Canonical SPDI:: NC_000010.11:88991641:A:G
Gene:: ACTA2 (Varview), FAS (Varview), FAS-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.88991642A>G, NC_000010.10:g.90751399A>G, NG_009089.2:g.6112A>G, NG_011541.1:g.4749T>C, NR_028371.1:n.1334T>C

Select item 146055594013.

rs1460555940 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:88992679 (GRCh38)
10:90752436 (GRCh37)
Canonical SPDI:: NC_000010.11:88992678:C:A
Gene:: ACTA2 (Varview), FAS (Varview), FAS-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.88992679C>A, NC_000010.10:g.90752436C>A, NG_009089.2:g.7149C>A, NG_011541.1:g.3712G>T, NR_028371.1:n.297G>T

Select item 145711692514.

rs1457116925 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 10:88991634 (GRCh38)
10:90751391 (GRCh37)
Canonical SPDI:: NC_000010.11:88991633:G:A,NC_000010.11:88991633:G:C
Gene:: ACTA2 (Varview), FAS (Varview), FAS-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000021/3 (GnomAD)
C=0.000142/2 (TOMMO)
HGVS:: NC_000010.11:g.88991634G>A, NC_000010.11:g.88991634G>C, NC_000010.10:g.90751391G>A, NC_000010.10:g.90751391G>C, NG_009089.2:g.6104G>A, NG_009089.2:g.6104G>C, NG_011541.1:g.4757C>T, NG_011541.1:g.4757C>G, NR_028371.1:n.1342C>T, NR_028371.1:n.1342C>G

Select item 145706749315.

rs1457067493 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:88992875 (GRCh38)
10:90752632 (GRCh37)
Canonical SPDI:: NC_000010.11:88992874:C:T
Gene:: ACTA2 (Varview), FAS (Varview), FAS-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000054/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000223/1 (Estonian)
HGVS:: NC_000010.11:g.88992875C>T, NC_000010.10:g.90752632C>T, NG_009089.2:g.7345C>T, NG_011541.1:g.3516G>A, NR_028371.1:n.101G>A

Select item 145202779616.

rs1452027796 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:88992727 (GRCh38)
10:90752484 (GRCh37)
Canonical SPDI:: NC_000010.11:88992726:T:C
Gene:: ACTA2 (Varview), FAS (Varview), FAS-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,non_coding_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_000010.11:g.88992727T>C, NC_000010.10:g.90752484T>C, NG_009089.2:g.7197T>C, NG_011541.1:g.3664A>G, NR_028371.1:n.249A>G

Select item 145174781517.

rs1451747815 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:88992511 (GRCh38)
10:90752268 (GRCh37)
Canonical SPDI:: NC_000010.11:88992510:G:A
Gene:: ACTA2 (Varview), FAS (Varview), FAS-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.88992511G>A, NC_000010.10:g.90752268G>A, NG_009089.2:g.6981G>A, NG_011541.1:g.3880C>T, NR_028371.1:n.465C>T

Select item 144911013918.

rs1449110139 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:88992846 (GRCh38)
10:90752603 (GRCh37)
Canonical SPDI:: NC_000010.11:88992845:T:G
Gene:: ACTA2 (Varview), FAS (Varview), FAS-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000010.11:g.88992846T>G, NC_000010.10:g.90752603T>G, NG_009089.2:g.7316T>G, NG_011541.1:g.3545A>C, NR_028371.1:n.130A>C

Select item 144795397219.

rs1447953972 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:88992581 (GRCh38)
10:90752338 (GRCh37)
Canonical SPDI:: NC_000010.11:88992580:A:G
Gene:: ACTA2 (Varview), FAS (Varview), FAS-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000010.11:g.88992581A>G, NC_000010.10:g.90752338A>G, NG_009089.2:g.7051A>G, NG_011541.1:g.3810T>C, NR_028371.1:n.395T>C

Select item 144655129320.

rs1446551293 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:88992306 (GRCh38)
10:90752063 (GRCh37)
Canonical SPDI:: NC_000010.11:88992305:G:T
Gene:: ACTA2 (Varview), FAS (Varview), FAS-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.88992306G>T, NC_000010.10:g.90752063G>T, NG_009089.2:g.6776G>T, NG_011541.1:g.4085C>A, NR_028371.1:n.670C>A

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