SNP Links for Nucleotide (Select 291219938) - SNP

Links from Nucleotide

Items: 1 to 20 of 2645

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Select item 14905096811.

rs1490509681 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:122458812 (GRCh38)
4:123379967 (GRCh37)
Canonical SPDI:: NC_000004.12:122458811:T:C
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.122458812T>C, NC_000004.11:g.123379967T>C, NG_016779.1:g.2684A>G

Select item 14901283182.

rs1490128318 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:122455421 (GRCh38)
4:123376576 (GRCh37)
Canonical SPDI:: NC_000004.12:122455420:T:C
Gene:: IL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.122455421T>C, NC_000004.11:g.123376576T>C, NG_016779.1:g.6075A>G

Select item 14900724553.

rs1490072455 [Homo sapiens]

Variant type:: DELINS
Alleles:: TACT>- [Show Flanks]
Chromosome:: 4:122455560 (GRCh38)
4:123376715 (GRCh37)
Canonical SPDI:: NC_000004.12:122455554:TTACTTACT:TTACT
Gene:: IL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTACT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.122455556TACT[1], NC_000004.11:g.123376711TACT[1], NG_016779.1:g.5934GTAA[1]

Select item 14900175654.

rs1490017565 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:122458380 (GRCh38)
4:123379535 (GRCh37)
Canonical SPDI:: NC_000004.12:122458379:G:A
Gene:: IL2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.122458380G>A, NC_000004.11:g.123379535G>A, NG_016779.1:g.3116C>T

Select item 14899609385.

rs1489960938 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:122457269 (GRCh38)
4:123378424 (GRCh37)
Canonical SPDI:: NC_000004.12:122457268:C:T
Gene:: IL2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000045/12 (TOPMED)
T=0.000071/10 (GnomAD)
HGVS:: NC_000004.12:g.122457269C>T, NC_000004.11:g.123378424C>T, NG_016779.1:g.4227G>A

Select item 14895642706.

rs1489564270 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:122459414 (GRCh38)
4:123380569 (GRCh37)
Canonical SPDI:: NC_000004.12:122459413:A:T
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.122459414A>T, NC_000004.11:g.123380569A>T, NG_016779.1:g.2082T>A

Select item 14894746247.

rs1489474624 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:122455996 (GRCh38)
4:123377151 (GRCh37)
Canonical SPDI:: NC_000004.12:122455995:G:A
Gene:: IL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000004.12:g.122455996G>A, NC_000004.11:g.123377151G>A, NG_016779.1:g.5500C>T

Select item 14894400398.

rs1489440039 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:122451324 (GRCh38)
4:123372479 (GRCh37)
Canonical SPDI:: NC_000004.12:122451323:A:C
Gene:: IL2 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.122451324A>C, NC_000004.11:g.123372479A>C, NG_016779.1:g.10172T>G

Select item 14893879279.

rs1489387927 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:122452645 (GRCh38)
4:123373800 (GRCh37)
Canonical SPDI:: NC_000004.12:122452644:C:A
Gene:: IL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000004.12:g.122452645C>A, NC_000004.11:g.123373800C>A, NG_016779.1:g.8851G>T

Select item 148881886410.

rs1488818864 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATTT>-,ATTTATTT [Show Flanks]
Chromosome:: 4:122459783 (GRCh38)
4:123380938 (GRCh37)
Canonical SPDI:: NC_000004.12:122459771:TTTATTTATTTATTT:TTTATTTATTT,NC_000004.12:122459771:TTTATTTATTTATTT:TTTATTTATTTATTTATTT
Validated:: by frequency,by alfa,by cluster
MAF:: TTTATTTATTTATTTATTT=0./0 (ALFA)
-=0.000036/5 (GnomAD)
-=0.000546/1 (Korea1K)
-=0.000779/13 (TOMMO)
HGVS:: NC_000004.12:g.122459775ATTT[2], NC_000004.12:g.122459775ATTT[4], NC_000004.11:g.123380930ATTT[2], NC_000004.11:g.123380930ATTT[4], NG_016779.1:g.1713TAAA[2], NG_016779.1:g.1713TAAA[4]

Select item 148847432911.

rs1488474329 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 4:122461282 (GRCh38)
4:123382437 (GRCh37)
Canonical SPDI:: NC_000004.12:122461281:T:C,NC_000004.12:122461281:T:G
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00034/1 (KOREAN)
HGVS:: NC_000004.12:g.122461282T>C, NC_000004.12:g.122461282T>G, NC_000004.11:g.123382437T>C, NC_000004.11:g.123382437T>G, NG_016779.1:g.214A>G, NG_016779.1:g.214A>C

Select item 148774299212.

rs1487742992 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:122459618 (GRCh38)
4:123380773 (GRCh37)
Canonical SPDI:: NC_000004.12:122459617:C:G
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000004.12:g.122459618C>G, NC_000004.11:g.123380773C>G, NG_016779.1:g.1878G>C

Select item 148754033013.

rs1487540330 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:122454920 (GRCh38)
4:123376075 (GRCh37)
Canonical SPDI:: NC_000004.12:122454919:A:G
Gene:: IL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.122454920A>G, NC_000004.11:g.123376075A>G, NG_016779.1:g.6576T>C

Select item 148708194314.

rs1487081943 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:122454479 (GRCh38)
4:123375634 (GRCh37)
Canonical SPDI:: NC_000004.12:122454478:T:G
Gene:: IL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (GnomAD)
G=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.122454479T>G, NC_000004.11:g.123375634T>G, NG_016779.1:g.7017A>C

Select item 148690975515.

rs1486909755 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:122460633 (GRCh38)
4:123381788 (GRCh37)
Canonical SPDI:: NC_000004.12:122460632:T:C
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.122460633T>C, NC_000004.11:g.123381788T>C, NG_016779.1:g.863A>G

Select item 148635030216.

rs1486350302 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 4:122452119 (GRCh38)
4:123373274 (GRCh37)
Canonical SPDI:: NC_000004.12:122452118:A:C,NC_000004.12:122452118:A:G
Gene:: IL2 (Varview)
Functional Consequence:: intron_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_000004.12:g.122452119A>C, NC_000004.12:g.122452119A>G, NC_000004.11:g.123373274A>C, NC_000004.11:g.123373274A>G, NG_016779.1:g.9377T>G, NG_016779.1:g.9377T>C

Select item 148619349517.

rs1486193495 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:122455023 (GRCh38)
4:123376178 (GRCh37)
Canonical SPDI:: NC_000004.12:122455022:A:C
Gene:: IL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.122455023A>C, NC_000004.11:g.123376178A>C, NG_016779.1:g.6473T>G

Select item 148618853718.

rs1486188537 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:122457503 (GRCh38)
4:123378658 (GRCh37)
Canonical SPDI:: NC_000004.12:122457502:C:T
Gene:: IL2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000177/3 (TOMMO)
HGVS:: NC_000004.12:g.122457503C>T, NC_000004.11:g.123378658C>T, NG_016779.1:g.3993G>A

Select item 148618040619.

rs1486180406 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:122456341 (GRCh38)
4:123377496 (GRCh37)
Canonical SPDI:: NC_000004.12:122456340:G:A
Gene:: IL2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.122456341G>A, NC_000004.11:g.123377496G>A, NG_016779.1:g.5155C>T, NM_000586.4:c.100C>T, NM_000586.3:c.100C>T

Select item 148609120920.

rs1486091209 has merged into rs1193228454 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 4:122453946 (GRCh38)
4:123375101 (GRCh37)
Canonical SPDI:: NC_000004.12:122453945:TTTTT:TTTT,NC_000004.12:122453945:TTTTT:TTTTTT
Gene:: IL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTT=0./0 (ALFA)
-=0.00167/1 (NorthernSweden)
HGVS:: NC_000004.12:g.122453950del, NC_000004.12:g.122453950dup, NC_000004.11:g.123375105del, NC_000004.11:g.123375105dup, NG_016779.1:g.7550del, NG_016779.1:g.7550dup

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