SNP Links for Gene (Select 8808) - SNP

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Select item 14915879941.

rs1491587994 has merged into rs1262428347 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>-,CTCT [Show Flanks]
Chromosome:: 2:102195573 (GRCh38)
2:102812033 (GRCh37)
Canonical SPDI:: NC_000002.12:102195571:TCT:T,NC_000002.12:102195571:TCT:TCTCT
Gene:: IL1RL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TCTCT=0./0 (ALFA)
-=0.00039/5 (GnomAD)
HGVS:: NC_000002.12:g.102195573_102195574del, NC_000002.12:g.102195573_102195574dup, NC_000002.11:g.102812033_102812034del, NC_000002.11:g.102812033_102812034dup

Select item 14915770492.

rs1491577049 [Homo sapiens]

Variant type:: INS
Alleles:: ->CA [Show Flanks]
Chromosome:: 2:102195582 (GRCh38)
2:102812043 (GRCh37)
Canonical SPDI:: NC_000002.12:102195582::CA
Gene:: IL1RL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CA=0./0 (ALFA)
HGVS:: NC_000002.12:g.102195582_102195583insCA, NC_000002.11:g.102812042_102812043insCA

Select item 14914690183.

rs1491469018 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTTCTTTC [Show Flanks]
Chromosome:: 2:102195618 (GRCh38)
2:102812079 (GRCh37)
Canonical SPDI:: NC_000002.12:102195618:TTCTTTC:TTCTTTCCTTCTTTC
Gene:: IL1RL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTCTTTCCTTCTTTC=0./0 (ALFA)
TTCTTTCC=0.00158/24 (GnomAD)
HGVS:: NC_000002.12:g.102195625_102195626insCTTCTTTC, NC_000002.11:g.102812085_102812086insCTTCTTTC

Select item 14914276554.

rs1491427655 has merged into rs869277415 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT [Show Flanks]
Chromosome:: 2:102195649 (GRCh38)
2:102812109 (GRCh37)
Canonical SPDI:: NC_000002.12:102195647:TTT:T,NC_000002.12:102195647:TTT:TT,NC_000002.12:102195647:TTT:TTTT
Gene:: IL1RL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.06247/741 (ALFA)
-=0.17728/2870 (TOMMO)
-=0.18478/68 (NorthernSweden)
-=0.21029/10583 (GnomAD)
HGVS:: NC_000002.12:g.102195649_102195650del, NC_000002.12:g.102195650del, NC_000002.12:g.102195650dup, NC_000002.11:g.102812109_102812110del, NC_000002.11:g.102812110del, NC_000002.11:g.102812110dup

Select item 14913557515.

rs1491355751 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CC [Show Flanks]
Chromosome:: 2:102195572 (GRCh38)
2:102812033 (GRCh37)
Canonical SPDI:: NC_000002.12:102195572:C:CCC
Gene:: IL1RL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CCC=0./0 (ALFA)
HGVS:: NC_000002.12:g.102195573_102195574insCC, NC_000002.11:g.102812033_102812034insCC

Select item 14913325576.

rs1491332557 has merged into rs1374089317 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT [Show Flanks]
Chromosome:: 2:102195619 (GRCh38)
2:102812079 (GRCh37)
Canonical SPDI:: NC_000002.12:102195617:TTT:T,NC_000002.12:102195617:TTT:TT,NC_000002.12:102195617:TTT:TTTT,NC_000002.12:102195617:TTT:TTTTT
Gene:: IL1RL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0./0 (ALFA)
HGVS:: NC_000002.12:g.102195619_102195620del, NC_000002.12:g.102195620del, NC_000002.12:g.102195620dup, NC_000002.12:g.102195619_102195620dup, NC_000002.11:g.102812079_102812080del, NC_000002.11:g.102812080del, NC_000002.11:g.102812080dup, NC_000002.11:g.102812079_102812080dup

Select item 14912249967.

rs1491224996 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 2:102195600 (GRCh38)
2:102812061 (GRCh37)
Canonical SPDI:: NC_000002.12:102195600:C:CC
Gene:: IL1RL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
HGVS:: NC_000002.12:g.102195601dup, NC_000002.11:g.102812061dup

Select item 14912135998.

rs1491213599 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:102200117 (GRCh38)
2:102816577 (GRCh37)
Canonical SPDI:: NC_000002.12:102200116:CA:
Gene:: IL1RL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00084/10 (ALFA)
-=0.00011/2 (TOMMO)
-=0.00102/51 (GnomAD)
-=0.00564/10 (Korea1K)
HGVS:: NC_000002.12:g.102200117_102200118del, NC_000002.11:g.102816577_102816578del

Select item 14911916499.

rs1491191649 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 2:102195601 (GRCh38)
2:102812061 (GRCh37)
Canonical SPDI:: NC_000002.12:102195599:TCT:T
Gene:: IL1RL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.00042/7 (GnomAD)
HGVS:: NC_000002.12:g.102195601_102195602del, NC_000002.11:g.102812061_102812062del

Select item 149111465610.

rs1491114656 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 2:102195648 (GRCh38)
2:102812109 (GRCh37)
Canonical SPDI:: NC_000002.12:102195648::C
Gene:: IL1RL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.0005/8 (TOMMO)
C=0.04008/470 (GnomAD)
HGVS:: NC_000002.12:g.102195648_102195649insC, NC_000002.11:g.102812108_102812109insC

Select item 149108337811.

rs1491083378 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>-,CTCT [Show Flanks]
Chromosome:: 2:102195659 (GRCh38)
2:102812119 (GRCh37)
Canonical SPDI:: NC_000002.12:102195657:TCT:T,NC_000002.12:102195657:TCT:TCTCT
Gene:: IL1RL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCT=0.00506/60 (ALFA)
HGVS:: NC_000002.12:g.102195659_102195660del, NC_000002.12:g.102195659_102195660dup, NC_000002.11:g.102812119_102812120del, NC_000002.11:g.102812119_102812120dup

Select item 149106765312.

rs1491067653 has merged into rs145175486 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGT>-,GTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT [Show Flanks]
Chromosome:: 2:102194720 (GRCh38)
2:102811180 (GRCh37)
Canonical SPDI:: NC_000002.12:102194710:TGTGTGTGTGTGTGT:TGTGTGTGT,NC_000002.12:102194710:TGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000002.12:102194710:TGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000002.12:102194710:TGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000002.12:102194710:TGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT
Gene:: IL1RL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
TG=0.26917/1348 (1000Genomes)
TG=0.30288/63 (Vietnamese)
TG=0.34251/1531 (Estonian)
TG=0.35561/5960 (TOMMO)
TG=0.35862/657 (Korea1K)
HGVS:: NC_000002.12:g.102194712GT[4], NC_000002.12:g.102194712GT[6], NC_000002.12:g.102194712GT[8], NC_000002.12:g.102194712GT[9], NC_000002.12:g.102194712GT[10], NC_000002.11:g.102811172GT[4], NC_000002.11:g.102811172GT[6], NC_000002.11:g.102811172GT[8], NC_000002.11:g.102811172GT[9], NC_000002.11:g.102811172GT[10]

Select item 149099576613.

rs1490995766 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:102194527 (GRCh38)
2:102810987 (GRCh37)
Canonical SPDI:: NC_000002.12:102194526:C:T
Gene:: IL1RL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000108/2 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
T=0.000223/1 (Estonian)
HGVS:: NC_000002.12:g.102194527C>T, NC_000002.11:g.102810987C>T

Select item 149093341414.

rs1490933414 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:102195484 (GRCh38)
2:102811944 (GRCh37)
Canonical SPDI:: NC_000002.12:102195483:T:C
Gene:: IL1RL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.102195484T>C, NC_000002.11:g.102811944T>C

Select item 149084492315.

rs1490844923 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:102233091 (GRCh38)
2:102849551 (GRCh37)
Canonical SPDI:: NC_000002.12:102233090:T:C
Gene:: IL1RL2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.102233091T>C, NC_000002.11:g.102849551T>C, XM_006712822.4:c.811T>C, XM_006712822.3:c.811T>C, XM_006712822.2:c.811T>C, XM_006712822.1:c.811T>C, NM_003854.4:c.1264T>C, NM_003854.3:c.1264T>C, NM_003854.2:c.1264T>C, XM_017005174.3:c.1264T>C, XM_017005174.2:c.1348T>C, XM_017005174.1:c.1348T>C, XM_011512091.2:c.1261T>C, XM_011512091.1:c.1345T>C, XM_011512094.2:c.1264T>C, XM_011512094.1:c.1264T>C, XM_011512093.2:c.1189T>C, XM_011512093.1:c.1273T>C, NM_001351449.2:c.811T>C, NM_001351449.1:c.811T>C, NM_001351446.2:c.1264T>C, NM_001351446.1:c.1264T>C, NM_001351450.2:c.811T>C, NM_001351450.1:c.811T>C, XM_011512092.2:c.1264T>C, XM_011512092.1:c.1348T>C, XM_047446164.1:c.1261T>C, XM_047446166.1:c.346T>C, XM_047446165.1:c.1189T>C, NM_001351447.1:c.910T>C, NM_001351448.1:c.838T>C, XP_006712885.1:p.Phe271Leu, NP_003845.2:p.Phe422Leu, XP_016860663.2:p.Phe422Leu, XP_011510393.2:p.Phe421Leu, XP_011510396.1:p.Phe422Leu, XP_011510395.2:p.Phe397Leu, NP_001338378.1:p.Phe271Leu, NP_001338375.1:p.Phe422Leu, NP_001338379.1:p.Phe271Leu, XP_011510394.2:p.Phe422Leu, XP_047302120.1:p.Phe421Leu, XP_047302122.1:p.Phe116Leu, XP_047302121.1:p.Phe397Leu, NP_001338376.1:p.Phe304Leu, NP_001338377.1:p.Phe280Leu

Select item 149084372116.

rs1490843721 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:102209949 (GRCh38)
2:102826409 (GRCh37)
Canonical SPDI:: NC_000002.12:102209948:C:G,NC_000002.12:102209948:C:T
Gene:: IL1RL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.102209949C>G, NC_000002.12:g.102209949C>T, NC_000002.11:g.102826409C>G, NC_000002.11:g.102826409C>T

Select item 149080151917.

rs1490801519 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:102226583 (GRCh38)
2:102843043 (GRCh37)
Canonical SPDI:: NC_000002.12:102226582:A:T
Gene:: IL1RL2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.102226583A>T, NC_000002.11:g.102843043A>T

Select item 149078533518.

rs1490785335 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:102227568 (GRCh38)
2:102844028 (GRCh37)
Canonical SPDI:: NC_000002.12:102227567:G:C
Gene:: IL1RL2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.102227568G>C, NC_000002.11:g.102844028G>C

Select item 149075798819.

rs1490757988 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:102240846 (GRCh38)
2:102857306 (GRCh37)
Canonical SPDI:: NC_000002.12:102240845:G:A
Gene:: IL1RL2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.102240846G>A, NC_000002.11:g.102857306G>A, NG_073994.1:g.178G>A

Select item 149070657020.

rs1490706570 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:102241653 (GRCh38)
2:102858113 (GRCh37)
Canonical SPDI:: NC_000002.12:102241652:C:G,NC_000002.12:102241652:C:T
Gene:: IL1RL2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.102241653C>G, NC_000002.12:g.102241653C>T, NC_000002.11:g.102858113C>G, NC_000002.11:g.102858113C>T

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