SNP Links for Gene (Select 3767) - SNP

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Select item 14900245621.

rs1490024562 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:17387659 (GRCh38)
11:17409206 (GRCh37)
Canonical SPDI:: NC_000011.10:17387658:C:T
Gene:: KCNJ11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000011.10:g.17387659C>T, NC_000011.9:g.17409206C>T, NG_012446.1:g.6001G>A, NM_000525.4:c.433G>A, NM_000525.3:c.433G>A, NM_001166290.2:c.172G>A, NM_001166290.1:c.172G>A, NM_001377296.1:c.172G>A, NM_001377297.1:c.172G>A, NP_000516.3:p.Ala145Thr, NP_001159762.1:p.Ala58Thr, NP_001364225.1:p.Ala58Thr, NP_001364226.1:p.Ala58Thr

Select item 14893897602.

rs1489389760 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:17387993 (GRCh38)
11:17409540 (GRCh37)
Canonical SPDI:: NC_000011.10:17387992:G:A
Gene:: KCNJ11 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.17387993G>A, NC_000011.9:g.17409540G>A, NG_012446.1:g.5667C>T, NM_000525.4:c.99C>T, NM_000525.3:c.99C>T

Select item 14893457563.

rs1489345756 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCGCCGGGTCCCGGCCCCGCCCGCCGCCGCCGCTGCACCTGCTCC>- [Show Flanks]
Chromosome:: 11:17389136 (GRCh38)
11:17410683 (GRCh37)
Canonical SPDI:: NC_000011.10:17389130:GCTCCGCGCCGGGTCCCGGCCCCGCCCGCCGCCGCCGCTGCACCTGCTCC:GCTCC
Gene:: KCNJ11 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant,splice_donor_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GCTCC=0./0 (ALFA)
-=0.000022/3 (GnomAD)
HGVS:: NC_000011.10:g.17389136_17389180del, NC_000011.9:g.17410683_17410727del, NG_012446.1:g.4485_4529del

Select item 14892075954.

rs1489207595 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:17387657 (GRCh38)
11:17409204 (GRCh37)
Canonical SPDI:: NC_000011.10:17387656:G:A,NC_000011.10:17387656:G:T
Gene:: KCNJ11 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.17387657G>A, NC_000011.10:g.17387657G>T, NC_000011.9:g.17409204G>A, NC_000011.9:g.17409204G>T, NG_012446.1:g.6003C>T, NG_012446.1:g.6003C>A, NM_000525.4:c.435C>T, NM_000525.4:c.435C>A, NM_000525.3:c.435C>T, NM_000525.3:c.435C>A, NM_001166290.2:c.174C>T, NM_001166290.2:c.174C>A, NM_001166290.1:c.174C>T, NM_001166290.1:c.174C>A, NM_001377296.1:c.174C>T, NM_001377296.1:c.174C>A, NM_001377297.1:c.174C>T, NM_001377297.1:c.174C>A

Select item 14888613095.

rs1488861309 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:17385767 (GRCh38)
11:17407314 (GRCh37)
Canonical SPDI:: NC_000011.10:17385766:G:A
Gene:: KCNJ11 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000021/3 (GnomAD)
A=0.000248/4 (TOMMO)
HGVS:: NC_000011.10:g.17385767G>A, NC_000011.9:g.17407314G>A, NG_012446.1:g.7893C>T, NM_000525.4:c.*1152C>T, NM_000525.3:c.*1152C>T, NM_001166290.2:c.*1152C>T, NM_001166290.1:c.*1152C>T, NM_001377296.1:c.*1152C>T, NM_001377297.1:c.*1152C>T

Select item 14886867446.

rs1488686744 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:17390618 (GRCh38)
11:17412165 (GRCh37)
Canonical SPDI:: NC_000011.10:17390617:A:G
Gene:: KCNJ11 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.17390618A>G, NC_000011.9:g.17412165A>G, NG_012446.1:g.3042T>C

Select item 14884820817.

rs1488482081 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:17387897 (GRCh38)
11:17409444 (GRCh37)
Canonical SPDI:: NC_000011.10:17387896:G:A
Gene:: KCNJ11 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
HGVS:: NC_000011.10:g.17387897G>A, NC_000011.9:g.17409444G>A, NG_012446.1:g.5763C>T, NM_000525.4:c.195C>T, NM_000525.3:c.195C>T

Select item 14881617158.

rs1488161715 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:17390490 (GRCh38)
11:17412037 (GRCh37)
Canonical SPDI:: NC_000011.10:17390489:A:G
Gene:: KCNJ11 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.17390490A>G, NC_000011.9:g.17412037A>G, NG_012446.1:g.3170T>C

Select item 14872556239.

rs1487255623 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:17386754 (GRCh38)
11:17408301 (GRCh37)
Canonical SPDI:: NC_000011.10:17386753:C:T
Gene:: KCNJ11 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.17386754C>T, NC_000011.9:g.17408301C>T, NG_012446.1:g.6906G>A, NM_000525.4:c.*165G>A, NM_000525.3:c.*165G>A, NM_001166290.2:c.*165G>A, NM_001166290.1:c.*165G>A, NM_001377296.1:c.*165G>A, NM_001377297.1:c.*165G>A

Select item 148705238410.

rs1487052384 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:17390112 (GRCh38)
11:17411659 (GRCh37)
Canonical SPDI:: NC_000011.10:17390111:A:G
Gene:: KCNJ11 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.17390112A>G, NC_000011.9:g.17411659A>G, NG_012446.1:g.3548T>C

Select item 148699145411.

rs1486991454 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:17385285 (GRCh38)
11:17406832 (GRCh37)
Canonical SPDI:: NC_000011.10:17385284:G:A
Gene:: KCNJ11 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000011.10:g.17385285G>A, NC_000011.9:g.17406832G>A, NG_012446.1:g.8375C>T, NM_000525.4:c.*1634C>T, NM_000525.3:c.*1634C>T, NM_001166290.2:c.*1634C>T, NM_001166290.1:c.*1634C>T, NM_001377296.1:c.*1634C>T, NM_001377297.1:c.*1634C>T

Select item 148560637312.

rs1485606373 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:17385271 (GRCh38)
11:17406818 (GRCh37)
Canonical SPDI:: NC_000011.10:17385270:C:G,NC_000011.10:17385270:C:T
Gene:: KCNJ11 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.17385271C>G, NC_000011.10:g.17385271C>T, NC_000011.9:g.17406818C>G, NC_000011.9:g.17406818C>T, NG_012446.1:g.8389G>C, NG_012446.1:g.8389G>A, NM_000525.4:c.*1648G>C, NM_000525.4:c.*1648G>A, NM_000525.3:c.*1648G>C, NM_000525.3:c.*1648G>A, NM_001166290.2:c.*1648G>C, NM_001166290.2:c.*1648G>A, NM_001166290.1:c.*1648G>C, NM_001166290.1:c.*1648G>A, NM_001377296.1:c.*1648G>C, NM_001377296.1:c.*1648G>A, NM_001377297.1:c.*1648G>C, NM_001377297.1:c.*1648G>A

Select item 148503430613.

rs1485034306 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:17388567 (GRCh38)
11:17410114 (GRCh37)
Canonical SPDI:: NC_000011.10:17388566:G:A
Gene:: KCNJ11 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000011.10:g.17388567G>A, NC_000011.9:g.17410114G>A, NG_012446.1:g.5093C>T, NM_000525.4:c.-476C>T, NM_000525.3:c.-476C>T

Select item 148501827114.

rs1485018271 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:17387360 (GRCh38)
11:17408907 (GRCh37)
Canonical SPDI:: NC_000011.10:17387359:C:G
Gene:: KCNJ11 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000011.10:g.17387360C>G, NC_000011.9:g.17408907C>G, NG_012446.1:g.6300G>C, NM_000525.4:c.732G>C, NM_000525.3:c.732G>C, NM_001166290.2:c.471G>C, NM_001166290.1:c.471G>C, NM_001377296.1:c.471G>C, NM_001377297.1:c.471G>C

Select item 148470865615.

rs1484708656 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:17388139 (GRCh38)
11:17409686 (GRCh37)
Canonical SPDI:: NC_000011.10:17388138:T:G
Gene:: KCNJ11 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.17388139T>G, NC_000011.9:g.17409686T>G, NG_012446.1:g.5521A>C, NM_000525.4:c.-48A>C, NM_000525.3:c.-48A>C

Select item 148442506916.

rs1484425069 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:17386149 (GRCh38)
11:17407696 (GRCh37)
Canonical SPDI:: NC_000011.10:17386148:C:A,NC_000011.10:17386148:C:T
Gene:: KCNJ11 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.17386149C>A, NC_000011.10:g.17386149C>T, NC_000011.9:g.17407696C>A, NC_000011.9:g.17407696C>T, NG_012446.1:g.7511G>T, NG_012446.1:g.7511G>A, NM_000525.4:c.*770G>T, NM_000525.4:c.*770G>A, NM_000525.3:c.*770G>T, NM_000525.3:c.*770G>A, NM_001166290.2:c.*770G>T, NM_001166290.2:c.*770G>A, NM_001166290.1:c.*770G>T, NM_001166290.1:c.*770G>A, NM_001377296.1:c.*770G>T, NM_001377296.1:c.*770G>A, NM_001377297.1:c.*770G>T, NM_001377297.1:c.*770G>A

Select item 148407291917.

rs1484072919 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 11:17390636 (GRCh38)
11:17412184 (GRCh37)
Canonical SPDI:: NC_000011.10:17390636:TTTTTT:TTTTTTT
Gene:: KCNJ11 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.17390642dup, NC_000011.9:g.17412189dup, NG_012446.1:g.3023dup

Select item 148307985918.

rs1483079859 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:17387486 (GRCh38)
11:17409033 (GRCh37)
Canonical SPDI:: NC_000011.10:17387485:C:T
Gene:: KCNJ11 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.17387486C>T, NC_000011.9:g.17409033C>T, NG_012446.1:g.6174G>A, NM_000525.4:c.606G>A, NM_000525.3:c.606G>A, NM_001166290.2:c.345G>A, NM_001166290.1:c.345G>A, NM_001377296.1:c.345G>A, NM_001377297.1:c.345G>A

Select item 148296975719.

rs1482969757 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 11:17389419 (GRCh38)
11:17410966 (GRCh37)
Canonical SPDI:: NC_000011.10:17389418:T:
Gene:: KCNJ11 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: -=0.000131/18 (GnomAD)
-=0.002125/36 (TOMMO)
HGVS:: NC_000011.10:g.17389419del, NC_000011.9:g.17410966del, NG_012446.1:g.4241del

Select item 148267067020.

rs1482670670 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 11:17389383 (GRCh38)
11:17410930 (GRCh37)
Canonical SPDI:: NC_000011.10:17389382:A:C,NC_000011.10:17389382:A:G
Gene:: KCNJ11 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/2 (GnomAD)
HGVS:: NC_000011.10:g.17389383A>C, NC_000011.10:g.17389383A>G, NC_000011.9:g.17410930A>C, NC_000011.9:g.17410930A>G, NG_012446.1:g.4277T>G, NG_012446.1:g.4277T>C

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