SNP Links for Gene (Select 22977) - SNP

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Select item 14915879841.

rs1491587984 has merged into rs200029197 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,TTTT,TTTTT,TTTTTTT [Show Flanks]
Chromosome:: 1:19279933 (GRCh38)
1:19606427 (GRCh37)
Canonical SPDI:: NC_000001.11:19279927:TTTTTTTTTTT:TTTTT,NC_000001.11:19279927:TTTTTTTTTTT:TTTTTTTTT,NC_000001.11:19279927:TTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:19279927:TTTTTTTTTTT:TTTTTTTTTTTT
Gene:: AKR7A3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.116667/70 (NorthernSweden)
-=0.119875/462 (ALSPAC)
-=0.125/5 (GENOME_DK)
-=0.132956/493 (TWINSUK)
-=0.147096/737 (1000Genomes)
-=0.150301/150 (GoNL)
-=0.17106/45278 (TOPMED)
HGVS:: NC_000001.11:g.19279933_19279938del, NC_000001.11:g.19279937_19279938del, NC_000001.11:g.19279938del, NC_000001.11:g.19279938dup, NC_000001.10:g.19606427_19606432del, NC_000001.10:g.19606431_19606432del, NC_000001.10:g.19606432del, NC_000001.10:g.19606432dup

Select item 14913936262.

rs1491393626 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:19291158 (GRCh38)
1:19617652 (GRCh37)
Canonical SPDI:: NC_000001.11:19291157:CA:
Gene:: LOC124903867 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00101/12 (ALFA)
-=0.00093/24 (TOMMO)
HGVS:: NC_000001.11:g.19291158_19291159del, NC_000001.10:g.19617652_19617653del

Select item 14913120643.

rs1491312064 has merged into rs10581391 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:19291170 (GRCh38)
1:19617664 (GRCh37)
Canonical SPDI:: NC_000001.11:19291158:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:19291158:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:19291158:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:19291158:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:19291158:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:19291158:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:19291158:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:19291158:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:19291158:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:19291158:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:19291158:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:19291158:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: LOC124903867 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.19291170_19291174del, NC_000001.11:g.19291171_19291174del, NC_000001.11:g.19291172_19291174del, NC_000001.11:g.19291173_19291174del, NC_000001.11:g.19291174del, NC_000001.11:g.19291174dup, NC_000001.11:g.19291173_19291174dup, NC_000001.11:g.19291172_19291174dup, NC_000001.11:g.19291171_19291174dup, NC_000001.11:g.19291170_19291174dup, NC_000001.11:g.19291169_19291174dup, NC_000001.11:g.19291174_19291175insAAAAAAAAAAAAAAAAA, NC_000001.10:g.19617664_19617668del, NC_000001.10:g.19617665_19617668del, NC_000001.10:g.19617666_19617668del, NC_000001.10:g.19617667_19617668del, NC_000001.10:g.19617668del, NC_000001.10:g.19617668dup, NC_000001.10:g.19617667_19617668dup, NC_000001.10:g.19617666_19617668dup, NC_000001.10:g.19617665_19617668dup, NC_000001.10:g.19617664_19617668dup, NC_000001.10:g.19617663_19617668dup, NC_000001.10:g.19617668_19617669insAAAAAAAAAAAAAAAAA

Select item 14912564464.

rs1491256446 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 1:19279927 (GRCh38)
1:19606421 (GRCh37)
Canonical SPDI:: NC_000001.11:19279926:AT:
Gene:: AKR7A3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0./0 (GnomAD)
HGVS:: NC_000001.11:g.19279927_19279928del, NC_000001.10:g.19606421_19606422del

Select item 14909546405.

rs1490954640 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:19274809 (GRCh38)
1:19601303 (GRCh37)
Canonical SPDI:: NC_000001.11:19274808:G:C
Gene:: AKR7A3 (Varview), AKR7L (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_downstream_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_000001.11:g.19274809G>C, NC_000001.10:g.19601303G>C

Select item 14905040756.

rs1490504075 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:19288121 (GRCh38)
1:19614615 (GRCh37)
Canonical SPDI:: NC_000001.11:19288120:G:A
Gene:: AKR7A3 (Varview), LOC124903867 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.19288121G>A, NC_000001.10:g.19614615G>A, XR_007065521.1:n.62G>A

Select item 14901796817.

rs1490179681 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:19288743 (GRCh38)
1:19615237 (GRCh37)
Canonical SPDI:: NC_000001.11:19288742:A:G
Gene:: AKR7A3 (Varview), LOC124903867 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.19288743A>G, NC_000001.10:g.19615237A>G, XM_011541046.4:c.-34T>C, XM_011541046.3:c.-34T>C, XM_011541046.2:c.-34T>C, XM_011541046.1:c.-34T>C, NM_012067.3:c.-34T>C, NM_012067.2:c.-34T>C, XM_047449607.1:c.-34T>C

Select item 14899327998.

rs1489932799 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:19286723 (GRCh38)
1:19613217 (GRCh37)
Canonical SPDI:: NC_000001.11:19286722:T:C
Gene:: AKR7A3 (Varview), LOC124903867 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.19286723T>C, NC_000001.10:g.19613217T>C

Select item 14898826949.

rs1489882694 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 1:19285173 (GRCh38)
1:19611667 (GRCh37)
Canonical SPDI:: NC_000001.11:19285172:A:G,NC_000001.11:19285172:A:T
Gene:: AKR7A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000122/17 (GnomAD)
HGVS:: NC_000001.11:g.19285173A>G, NC_000001.11:g.19285173A>T, NC_000001.10:g.19611667A>G, NC_000001.10:g.19611667A>T

Select item 148973744010.

rs1489737440 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:19279705 (GRCh38)
1:19606199 (GRCh37)
Canonical SPDI:: NC_000001.11:19279704:A:G
Gene:: AKR7A3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.19279705A>G, NC_000001.10:g.19606199A>G

Select item 148968240911.

rs1489682409 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:19288615 (GRCh38)
1:19615109 (GRCh37)
Canonical SPDI:: NC_000001.11:19288614:G:A
Gene:: AKR7A3 (Varview), LOC124903867 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.00004/1 (TOMMO)
HGVS:: NC_000001.11:g.19288615G>A, NC_000001.10:g.19615109G>A, XM_011541046.4:c.95C>T, XM_011541046.3:c.95C>T, XM_011541046.2:c.95C>T, XM_011541046.1:c.95C>T, NM_012067.3:c.95C>T, NM_012067.2:c.95C>T, XM_047449607.1:c.95C>T, XP_011539348.1:p.Thr32Met, NP_036199.2:p.Thr32Met, XP_047305563.1:p.Thr32Met

Select item 148961070612.

rs1489610706 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TA [Show Flanks]
Chromosome:: 1:19285183 (GRCh38)
1:19611678 (GRCh37)
Canonical SPDI:: NC_000001.11:19285183:A:ATA
Gene:: AKR7A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: AT=0.000129/18 (GnomAD)
HGVS:: NC_000001.11:g.19285184_19285185insTA, NC_000001.10:g.19611678_19611679insTA

Select item 148939928713.

rs1489399287 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 1:19283707 (GRCh38)
1:19610201 (GRCh37)
Canonical SPDI:: NC_000001.11:19283706:T:A,NC_000001.11:19283706:T:C
Gene:: AKR7A3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.000035/1 (TOMMO)
A=0.000036/5 (GnomAD)
A=0.00011/29 (TOPMED)
HGVS:: NC_000001.11:g.19283707T>A, NC_000001.11:g.19283707T>C, NC_000001.10:g.19610201T>A, NC_000001.10:g.19610201T>C

Select item 148909263114.

rs1489092631 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:19287649 (GRCh38)
1:19614143 (GRCh37)
Canonical SPDI:: NC_000001.11:19287648:G:A
Gene:: AKR7A3 (Varview), LOC124903867 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000029/4 (GnomAD)
A=0.000814/14 (TOMMO)
HGVS:: NC_000001.11:g.19287649G>A, NC_000001.10:g.19614143G>A

Select item 148899189115.

rs1488991891 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:19289923 (GRCh38)
1:19616417 (GRCh37)
Canonical SPDI:: NC_000001.11:19289922:G:A
Gene:: AKR7A3 (Varview), LOC124903867 (Varview)
Functional Consequence:: 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_000001.11:g.19289923G>A, NC_000001.10:g.19616417G>A

Select item 148893082416.

rs1488930824 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:19289041 (GRCh38)
1:19615535 (GRCh37)
Canonical SPDI:: NC_000001.11:19289040:C:A
Gene:: AKR7A3 (Varview), LOC124903867 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_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_000001.11:g.19289041C>A, NC_000001.10:g.19615535C>A

Select item 148880371417.

rs1488803714 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:19288611 (GRCh38)
1:19615105 (GRCh37)
Canonical SPDI:: NC_000001.11:19288610:G:A
Gene:: AKR7A3 (Varview), LOC124903867 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000005/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.19288611G>A, NC_000001.10:g.19615105G>A, XM_011541046.4:c.99C>T, XM_011541046.3:c.99C>T, XM_011541046.2:c.99C>T, XM_011541046.1:c.99C>T, NM_012067.3:c.99C>T, NM_012067.2:c.99C>T, XM_047449607.1:c.99C>T

Select item 148859155118.

rs1488591551 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:19285418 (GRCh38)
1:19611912 (GRCh37)
Canonical SPDI:: NC_000001.11:19285417:T:A
Gene:: AKR7A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.19285418T>A, NC_000001.10:g.19611912T>A

Select item 148789437919.

rs1487894379 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:19275015 (GRCh38)
1:19601509 (GRCh37)
Canonical SPDI:: NC_000001.11:19275014:C:G
Gene:: AKR7A3 (Varview), AKR7L (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000036/5 (GnomAD)
HGVS:: NC_000001.11:g.19275015C>G, NC_000001.10:g.19601509C>G

Select item 148777468320.

rs1487774683 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:19281749 (GRCh38)
1:19608243 (GRCh37)
Canonical SPDI:: NC_000001.11:19281748:C:T
Gene:: AKR7A3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.19281749C>T, NC_000001.10:g.19608243C>T

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