SNP for Gene (Select 27177) - SNP

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Select item 14915520581.

rs1491552058 has merged into rs1164530934 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>-,GTGT,GTGTGT,GTGTGTGTGT [Show Flanks]
Chromosome:: 2:113032131 (GRCh38)
2:113789708 (GRCh37)
Canonical SPDI:: NC_000002.12:113032122:GTGTGTGTGT:GTGTGTGT,NC_000002.12:113032122:GTGTGTGTGT:GTGTGTGTGTGT,NC_000002.12:113032122:GTGTGTGTGT:GTGTGTGTGTGTGT,NC_000002.12:113032122:GTGTGTGTGT:GTGTGTGTGTGTGTGTGT
Gene:: IL36B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGT=0./0 (ALFA)
-=0.000011/3 (TOPMED)
GTGT=0.000248/4 (TOMMO)
GTGT=0.000546/1 (Korea1K)
HGVS:: NC_000002.12:g.113032123GT[4], NC_000002.12:g.113032123GT[6], NC_000002.12:g.113032123GT[7], NC_000002.12:g.113032123GT[9], NC_000002.11:g.113789700GT[4], NC_000002.11:g.113789700GT[6], NC_000002.11:g.113789700GT[7], NC_000002.11:g.113789700GT[9]

Select item 14915473262.

rs1491547326 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A,AA,AAA,AAAA [Show Flanks]
Chromosome:: 2:113041154 (GRCh38)
2:113798732 (GRCh37)
Canonical SPDI:: NC_000002.12:113041154:A:AA,NC_000002.12:113041154:A:AAA,NC_000002.12:113041154:A:AAAA,NC_000002.12:113041154:A:AAAAA
Gene:: IL36B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
AA=0.00627/104 (TOMMO)
AA=0.01422/26 (Korea1K)
HGVS:: NC_000002.12:g.113041155dup, NC_000002.12:g.113041155_113041156insAA, NC_000002.12:g.113041155_113041156insAAA, NC_000002.12:g.113041155_113041156insAAAA, NC_000002.11:g.113798732dup, NC_000002.11:g.113798732_113798733insAA, NC_000002.11:g.113798732_113798733insAAA, NC_000002.11:g.113798732_113798733insAAAA

Select item 14913652203.

rs1491365220 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACA>-,CA [Show Flanks]
Chromosome:: 2:113041158 (GRCh38)
2:113798735 (GRCh37)
Canonical SPDI:: NC_000002.12:113041153:CACACACA:CACA,NC_000002.12:113041153:CACACACA:CACACA
Gene:: IL36B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACA=0.00093/15 (ALFA)
-=0./0 (Korea1K)
-=0.00011/3 (TOMMO)
-=0.00373/16 (Estonian)
HGVS:: NC_000002.12:g.113041154CA[2], NC_000002.12:g.113041154CA[3], NC_000002.11:g.113798731CA[2], NC_000002.11:g.113798731CA[3]

Select item 14912426874.

rs1491242687 has merged into rs1358193349 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTGTGTGTGT>-,CTGTGTGTGTCTGTGTGTGT [Show Flanks]
Chromosome:: 2:113032133 (GRCh38)
2:113789710 (GRCh37)
Canonical SPDI:: NC_000002.12:113032123:TGTGTGTGTCTGTGTGTGT:TGTGTGTGT,NC_000002.12:113032123:TGTGTGTGTCTGTGTGTGT:TGTGTGTGTCTGTGTGTGTCTGTGTGTGT
Gene:: IL36B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTCTGTGTGTGTCTGTGTGTGT=0./0 (ALFA)
HGVS:: NC_000002.12:g.113032133_113032142del, NC_000002.12:g.113032133_113032142dup, NC_000002.11:g.113789710_113789719del, NC_000002.11:g.113789710_113789719dup

Select item 14909876685.

rs1490987668 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:113022701 (GRCh38)
2:113780278 (GRCh37)
Canonical SPDI:: NC_000002.12:113022700:G:T
Gene:: IL36B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.113022701G>T, NC_000002.11:g.113780278G>T, NM_014438.5:c.468C>A, NM_014438.4:c.468C>A

Select item 14909319126.

rs1490931912 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:113023629 (GRCh38)
2:113781206 (GRCh37)
Canonical SPDI:: NC_000002.12:113023628:G:T
Gene:: IL36B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.113023629G>T, NC_000002.11:g.113781206G>T

Select item 14909043157.

rs1490904315 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:113041991 (GRCh38)
2:113799568 (GRCh37)
Canonical SPDI:: NC_000002.12:113041990:A:G
Gene:: IL36B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.113041991A>G, NC_000002.11:g.113799568A>G

Select item 14908194168.

rs1490819416 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:113024318 (GRCh38)
2:113781895 (GRCh37)
Canonical SPDI:: NC_000002.12:113024317:G:A,NC_000002.12:113024317:G:C
Gene:: IL36B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.113024318G>A, NC_000002.12:g.113024318G>C, NC_000002.11:g.113781895G>A, NC_000002.11:g.113781895G>C

Select item 14906700859.

rs1490670085 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:113032592 (GRCh38)
2:113790169 (GRCh37)
Canonical SPDI:: NC_000002.12:113032591:T:G
Gene:: IL36B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000002.12:g.113032592T>G, NC_000002.11:g.113790169T>G

Select item 149063790010.

rs1490637900 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:113031701 (GRCh38)
2:113789278 (GRCh37)
Canonical SPDI:: NC_000002.12:113031700:T:C
Gene:: IL36B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.113031701T>C, NC_000002.11:g.113789278T>C, NM_014438.5:c.9A>G, NM_014438.4:c.9A>G, NM_173178.3:c.9A>G, NM_173178.2:c.9A>G, XM_011510962.1:c.9A>G

Select item 149035799511.

rs1490357995 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:113023181 (GRCh38)
2:113780758 (GRCh37)
Canonical SPDI:: NC_000002.12:113023180:T:A
Gene:: IL36B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000026/7 (TOPMED)
HGVS:: NC_000002.12:g.113023181T>A, NC_000002.11:g.113780758T>A

Select item 149034317612.

rs1490343176 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:113054580 (GRCh38)
2:113812157 (GRCh37)
Canonical SPDI:: NC_000002.12:113054579:C:T
Gene:: IL36B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.113054580C>T, NC_000002.11:g.113812157C>T, NG_031864.1:g.943C>T

Select item 149002924913.

rs1490029249 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:113039358 (GRCh38)
2:113796935 (GRCh37)
Canonical SPDI:: NC_000002.12:113039357:T:C
Gene:: IL36B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000036/5 (GnomAD)
C=0.000072/19 (TOPMED)
HGVS:: NC_000002.12:g.113039358T>C, NC_000002.11:g.113796935T>C

Select item 148994823714.

rs1489948237 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 2:113024545 (GRCh38)
2:113782122 (GRCh37)
Canonical SPDI:: NC_000002.12:113024544:G:
Gene:: IL36B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000038/10 (TOPMED)
HGVS:: NC_000002.12:g.113024545del, NC_000002.11:g.113782122del

Select item 148988139115.

rs1489881391 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:113040815 (GRCh38)
2:113798392 (GRCh37)
Canonical SPDI:: NC_000002.12:113040814:T:C
Gene:: IL36B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.113040815T>C, NC_000002.11:g.113798392T>C

Select item 148986852016.

rs1489868520 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:113022021 (GRCh38)
2:113779598 (GRCh37)
Canonical SPDI:: NC_000002.12:113022020:C:T
Gene:: IL36B (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000108/2 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000021/3 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000002.12:g.113022021C>T, NC_000002.11:g.113779598C>T

Select item 148985171817.

rs1489851718 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:113036373 (GRCh38)
2:113793950 (GRCh37)
Canonical SPDI:: NC_000002.12:113036372:G:T
Gene:: IL36B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.00046/7 (ALFA)
HGVS:: NC_000002.12:g.113036373G>T, NC_000002.11:g.113793950G>T

Select item 148968385318.

rs1489683853 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:113038340 (GRCh38)
2:113795917 (GRCh37)
Canonical SPDI:: NC_000002.12:113038339:G:A,NC_000002.12:113038339:G:T
Gene:: IL36B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.113038340G>A, NC_000002.12:g.113038340G>T, NC_000002.11:g.113795917G>A, NC_000002.11:g.113795917G>T

Select item 148966713719.

rs1489667137 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:113037187 (GRCh38)
2:113794764 (GRCh37)
Canonical SPDI:: NC_000002.12:113037186:C:G
Gene:: IL36B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.113037187C>G, NC_000002.11:g.113794764C>G

Select item 148964781720.

rs1489647817 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:113036941 (GRCh38)
2:113794518 (GRCh37)
Canonical SPDI:: NC_000002.12:113036940:G:A
Gene:: IL36B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000057/15 (TOPMED)
HGVS:: NC_000002.12:g.113036941G>A, NC_000002.11:g.113794518G>A

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