SNP Links for Nucleotide (Select 210032106) - SNP

Links from Nucleotide

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Select item 14915743451.

rs1491574345 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 2:112838769 (GRCh38)
2:113596346 (GRCh37)
Canonical SPDI:: NC_000002.12:112838768:TC:
Gene:: IL1B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.01402/52 (TWINSUK)
-=0.01479/57 (ALSPAC)
HGVS:: NC_000002.12:g.112838769_112838770del, NC_000002.11:g.113596346_113596347del, NG_008851.1:g.3010_3011del

Select item 14915061012.

rs1491506101 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 2:112838743 (GRCh38)
2:113596320 (GRCh37)
Canonical SPDI:: NC_000002.12:112838741:TCT:T
Gene:: IL1B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0.000084/1 (ALFA)
-=0.000008/1 (GnomAD)
HGVS:: NC_000002.12:g.112838743_112838744del, NC_000002.11:g.113596320_113596321del, NG_008851.1:g.3037_3038del

Select item 14914896263.

rs1491489626 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 2:112827971 (GRCh38)
2:113585548 (GRCh37)
Canonical SPDI:: NC_000002.12:112827970:TG:
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.112827971_112827972del, NC_000002.11:g.113585548_113585549del, NG_008851.1:g.13808_13809del

Select item 14912911044.

rs1491291104 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCTT [Show Flanks]
Chromosome:: 2:112838762 (GRCh38)
2:113596340 (GRCh37)
Canonical SPDI:: NC_000002.12:112838762:CTT:CTTCCTT
Gene:: IL1B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: CTTCCTT=0./0 (ALFA)
CTTC=0.000009/1 (GnomAD)
HGVS:: NC_000002.12:g.112838765_112838766insCCTT, NC_000002.11:g.113596342_113596343insCCTT, NG_008851.1:g.3017_3018insGAAG

Select item 14912197435.

rs1491219743 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCTTTCTT [Show Flanks]
Chromosome:: 2:112838742 (GRCh38)
2:113596320 (GRCh37)
Canonical SPDI:: NC_000002.12:112838742:CTTTCTT:CTTTCTTCCTTTCTT
Gene:: IL1B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: CTTTCTTCCTTTCTT=0./0 (ALFA)
HGVS:: NC_000002.12:g.112838749_112838750insCCTTTCTT, NC_000002.11:g.113596326_113596327insCCTTTCTT, NG_008851.1:g.3037_3038insGAAGAAAG

Select item 14911769996.

rs1491176999 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CC [Show Flanks]
Chromosome:: 2:112838947 (GRCh38)
2:113596525 (GRCh37)
Canonical SPDI:: NC_000002.12:112838947:C:CCC
Validated:: by frequency,by alfa
MAF:: CCC=0./0 (ALFA)
HGVS:: NC_000002.12:g.112838948_112838949insCC, NC_000002.11:g.113596525_113596526insCC, NG_008851.1:g.2832_2833insGG

Select item 14910363837.

rs1491036383 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 2:112838717 (GRCh38)
2:113596294 (GRCh37)
Canonical SPDI:: NC_000002.12:112838715:TCT:T
Gene:: IL1B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.00009/1 (TOMMO)
HGVS:: NC_000002.12:g.112838717_112838718del, NC_000002.11:g.113596294_113596295del, NG_008851.1:g.3063_3064del

Select item 14909770298.

rs1490977029 [Homo sapiens]

Variant type:: SNV:
Alleles:: A>G
Chromosome:: no mapping
Canonical SPDI:

Select item 14904001929.

rs1490400192 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:112836635 (GRCh38)
2:113594212 (GRCh37)
Canonical SPDI:: NC_000002.12:112836634:G:A
Gene:: IL1B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_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_000002.12:g.112836635G>A, NC_000002.11:g.113594212G>A, NG_008851.1:g.5145C>T

Select item 149011553910.

rs1490115539 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 2:112835925 (GRCh38)
2:113593502 (GRCh37)
Canonical SPDI:: NC_000002.12:112835923:TGT:T
Gene:: IL1B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.112835925_112835926del, NC_000002.11:g.113593502_113593503del, NG_008851.1:g.5855_5856del

Select item 149006333011.

rs1490063330 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:112833576 (GRCh38)
2:113591153 (GRCh37)
Canonical SPDI:: NC_000002.12:112833575:C:T
Gene:: IL1B (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,splice_acceptor_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.112833576C>T, NC_000002.11:g.113591153C>T, NG_008851.1:g.8204G>A

Select item 148985372212.

rs1489853722 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:112828030 (GRCh38)
2:113585607 (GRCh37)
Canonical SPDI:: NC_000002.12:112828029:G:A
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.112828030G>A, NC_000002.11:g.113585607G>A, NG_008851.1:g.13750C>T

Select item 148961685113.

rs1489616851 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:112828135 (GRCh38)
2:113585712 (GRCh37)
Canonical SPDI:: NC_000002.12:112828134:C:G,NC_000002.12:112828134:C:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00006/1 (TOMMO)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000002.12:g.112828135C>G, NC_000002.12:g.112828135C>T, NC_000002.11:g.113585712C>G, NC_000002.11:g.113585712C>T, NG_008851.1:g.13645G>C, NG_008851.1:g.13645G>A

Select item 148956717814.

rs1489567178 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:112828554 (GRCh38)
2:113586131 (GRCh37)
Canonical SPDI:: NC_000002.12:112828553:G:A
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.112828554G>A, NC_000002.11:g.113586131G>A, NG_008851.1:g.13226C>T

Select item 148953752115.

rs1489537521 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 2:112829800 (GRCh38)
2:113587377 (GRCh37)
Canonical SPDI:: NC_000002.12:112829799:A:
Gene:: IL1B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.112829800del, NC_000002.11:g.113587377del, NG_008851.1:g.11980del, NM_000576.3:c.*561del, NM_000576.2:c.*561del, XM_047444175.1:c.*561del

Select item 148946951516.

rs1489469515 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:112840002 (GRCh38)
2:113597579 (GRCh37)
Canonical SPDI:: NC_000002.12:112840001:G:A
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_000002.12:g.112840002G>A, NC_000002.11:g.113597579G>A, NG_008851.1:g.1778C>T

Select item 148923539117.

rs1489235391 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:112829595 (GRCh38)
2:113587172 (GRCh37)
Canonical SPDI:: NC_000002.12:112829594:G:A
Gene:: IL1B (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_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_000002.12:g.112829595G>A, NC_000002.11:g.113587172G>A, NG_008851.1:g.12185C>T

Select item 148921290118.

rs1489212901 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:112830975 (GRCh38)
2:113588552 (GRCh37)
Canonical SPDI:: NC_000002.12:112830974:C:T
Gene:: IL1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.001027/3 (KOREAN)
T=0.002183/4 (Korea1K)
HGVS:: NC_000002.12:g.112830975C>T, NC_000002.11:g.113588552C>T, NG_008851.1:g.10805G>A

Select item 148905886419.

rs1489058864 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:112832726 (GRCh38)
2:113590303 (GRCh37)
Canonical SPDI:: NC_000002.12:112832725:C:T
Gene:: IL1B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.112832726C>T, NC_000002.11:g.113590303C>T, NG_008851.1:g.9054G>A, NM_000576.3:c.402G>A, NM_000576.2:c.402G>A, XM_047444175.1:c.168G>A

Select item 148897853120.

rs1488978531 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:112829995 (GRCh38)
2:113587572 (GRCh37)
Canonical SPDI:: NC_000002.12:112829994:C:G,NC_000002.12:112829994:C:T
Gene:: IL1B (Varview)
Functional Consequence:: 3_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)
T=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.112829995C>G, NC_000002.12:g.112829995C>T, NC_000002.11:g.113587572C>G, NC_000002.11:g.113587572C>T, NG_008851.1:g.11785G>C, NG_008851.1:g.11785G>A, NM_000576.3:c.*366G>C, NM_000576.3:c.*366G>A, NM_000576.2:c.*366G>C, NM_000576.2:c.*366G>A, XM_047444175.1:c.*366G>C, XM_047444175.1:c.*366G>A

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