SNP Links for Gene (Select 58985) - SNP

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Select item 14912883621.

rs1491288362 has merged into rs756832081 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT [Show Flanks]
Chromosome:: 1:24132346 (GRCh38)
1:24458836 (GRCh37)
Canonical SPDI:: NC_000001.11:24132333:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:24132333:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:24132333:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:24132333:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:24132333:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:24132333:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:24132333:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
Gene:: IL22RA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
T=0.325/13 (GENOME_DK)
HGVS:: NC_000001.11:g.24132346_24132349del, NC_000001.11:g.24132347_24132349del, NC_000001.11:g.24132348_24132349del, NC_000001.11:g.24132349del, NC_000001.11:g.24132349dup, NC_000001.11:g.24132348_24132349dup, NC_000001.11:g.24132347_24132349dup, NC_000001.10:g.24458836_24458839del, NC_000001.10:g.24458837_24458839del, NC_000001.10:g.24458838_24458839del, NC_000001.10:g.24458839del, NC_000001.10:g.24458839dup, NC_000001.10:g.24458838_24458839dup, NC_000001.10:g.24458837_24458839dup

Select item 14910308432.

rs1491030843 has merged into rs11428028 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:24137527 (GRCh38)
1:24464017 (GRCh37)
Canonical SPDI:: NC_000001.11:24137516:TTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:24137516:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:24137516:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:24137516:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:24137516:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:24137516:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:24137516:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:24137516:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:24137516:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:24137516:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:24137516:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:24137516:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
Gene:: IL22RA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
T=0.4315/2161 (1000Genomes)
HGVS:: NC_000001.11:g.24137527_24137531del, NC_000001.11:g.24137529_24137531del, NC_000001.11:g.24137530_24137531del, NC_000001.11:g.24137531del, NC_000001.11:g.24137531dup, NC_000001.11:g.24137530_24137531dup, NC_000001.11:g.24137529_24137531dup, NC_000001.11:g.24137528_24137531dup, NC_000001.11:g.24137527_24137531dup, NC_000001.11:g.24137526_24137531dup, NC_000001.11:g.24137525_24137531dup, NC_000001.11:g.24137524_24137531dup, NC_000001.10:g.24464017_24464021del, NC_000001.10:g.24464019_24464021del, NC_000001.10:g.24464020_24464021del, NC_000001.10:g.24464021del, NC_000001.10:g.24464021dup, NC_000001.10:g.24464020_24464021dup, NC_000001.10:g.24464019_24464021dup, NC_000001.10:g.24464018_24464021dup, NC_000001.10:g.24464017_24464021dup, NC_000001.10:g.24464016_24464021dup, NC_000001.10:g.24464015_24464021dup, NC_000001.10:g.24464014_24464021dup

Select item 14907135363.

rs1490713536 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 1:24128547 (GRCh38)
1:24455038 (GRCh37)
Canonical SPDI:: NC_000001.11:24128547:T:TGT
Gene:: IL22RA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGT=0./0 (ALFA)
TG=0.000004/1 (TOPMED)
TG=0.000142/4 (TOMMO)
HGVS:: NC_000001.11:g.24128548_24128549insGT, NC_000001.10:g.24455038_24455039insGT

Select item 14903775704.

rs1490377570 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:24138296 (GRCh38)
1:24464786 (GRCh37)
Canonical SPDI:: NC_000001.11:24138295:A:T
Gene:: IL22RA1 (Varview)
Functional Consequence:: intron_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_000001.11:g.24138296A>T, NC_000001.10:g.24464786A>T

Select item 14903380175.

rs1490338017 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:24131233 (GRCh38)
1:24457723 (GRCh37)
Canonical SPDI:: NC_000001.11:24131232:G:A
Gene:: IL22RA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000026/7 (TOPMED)
HGVS:: NC_000001.11:g.24131233G>A, NC_000001.10:g.24457723G>A

Select item 14903014756.

rs1490301475 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:24132207 (GRCh38)
1:24458697 (GRCh37)
Canonical SPDI:: NC_000001.11:24132206:T:C
Gene:: IL22RA1 (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_000001.11:g.24132207T>C, NC_000001.10:g.24458697T>C

Select item 14901014777.

rs1490101477 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:24123819 (GRCh38)
1:24450309 (GRCh37)
Canonical SPDI:: NC_000001.11:24123818:A:G
Gene:: IL22RA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.24123819A>G, NC_000001.10:g.24450309A>G

Select item 14900697948.

rs1490069794 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:24144350 (GRCh38)
1:24470840 (GRCh37)
Canonical SPDI:: NC_000001.11:24144349:C:A
Gene:: IL22RA1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0.00009/1 (ALFA)
HGVS:: NC_000001.11:g.24144350C>A, NC_000001.10:g.24470840C>A

Select item 14900528659.

rs1490052865 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TAGTACTT [Show Flanks]
Chromosome:: 1:24139269 (GRCh38)
1:24465760 (GRCh37)
Canonical SPDI:: NC_000001.11:24139269:TTAGTACTT:TTAGTACTTTAGTACTT
Gene:: IL22RA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTAGTACTTTAGTACTT=0./0 (ALFA)
TTAGTACT=0.000004/1 (TOPMED)
TTAGTACT=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.24139271_24139278dup, NC_000001.10:g.24465761_24465768dup

Select item 148991197810.

rs1489911978 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:24122322 (GRCh38)
1:24448812 (GRCh37)
Canonical SPDI:: NC_000001.11:24122321:G:A,NC_000001.11:24122321:G:T
Gene:: IL22RA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.24122322G>A, NC_000001.11:g.24122322G>T, NC_000001.10:g.24448812G>A, NC_000001.10:g.24448812G>T

Select item 148989635111.

rs1489896351 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:24127299 (GRCh38)
1:24453789 (GRCh37)
Canonical SPDI:: NC_000001.11:24127298:C:A,NC_000001.11:24127298:C:T
Gene:: IL22RA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.24127299C>A, NC_000001.11:g.24127299C>T, NC_000001.10:g.24453789C>A, NC_000001.10:g.24453789C>T

Select item 148988801912.

rs1489888019 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:24138808 (GRCh38)
1:24465298 (GRCh37)
Canonical SPDI:: NC_000001.11:24138807:C:A
Gene:: IL22RA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.24138808C>A, NC_000001.10:g.24465298C>A

Select item 148983751113.

rs1489837511 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:24123564 (GRCh38)
1:24450054 (GRCh37)
Canonical SPDI:: NC_000001.11:24123563:C:G
Gene:: IL22RA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.24123564C>G, NC_000001.10:g.24450054C>G

Select item 148953262914.

rs1489532629 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:24127934 (GRCh38)
1:24454424 (GRCh37)
Canonical SPDI:: NC_000001.11:24127933:T:C
Gene:: IL22RA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.24127934T>C, NC_000001.10:g.24454424T>C

Select item 148948639815.

rs1489486398 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:24128427 (GRCh38)
1:24454917 (GRCh37)
Canonical SPDI:: NC_000001.11:24128426:T:G
Gene:: IL22RA1 (Varview)
Functional Consequence:: intron_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.24128427T>G, NC_000001.10:g.24454917T>G

Select item 148943608316.

rs1489436083 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:24143605 (GRCh38)
1:24470095 (GRCh37)
Canonical SPDI:: NC_000001.11:24143604:T:C
Gene:: IL22RA1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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.24143605T>C, NC_000001.10:g.24470095T>C

Select item 148941417617.

rs1489414176 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:24122798 (GRCh38)
1:24449288 (GRCh37)
Canonical SPDI:: NC_000001.11:24122797:A:C
Gene:: IL22RA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.000016/2 (GnomAD)
HGVS:: NC_000001.11:g.24122798A>C, NC_000001.10:g.24449288A>C

Select item 148915322718.

rs1489153227 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:24135592 (GRCh38)
1:24462082 (GRCh37)
Canonical SPDI:: NC_000001.11:24135591:A:G
Gene:: IL22RA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.24135592A>G, NC_000001.10:g.24462082A>G

Select item 148909483419.

rs1489094834 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:24123441 (GRCh38)
1:24449931 (GRCh37)
Canonical SPDI:: NC_000001.11:24123440:C:T
Gene:: IL22RA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000001.11:g.24123441C>T, NC_000001.10:g.24449931C>T

Select item 148906613720.

rs1489066137 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 1:24121386 (GRCh38)
1:24447876 (GRCh37)
Canonical SPDI:: NC_000001.11:24121385:T:C,NC_000001.11:24121385:T:G
Gene:: IL22RA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.24121386T>C, NC_000001.11:g.24121386T>G, NC_000001.10:g.24447876T>C, NC_000001.10:g.24447876T>G, NM_021258.4:c.1144A>G, NM_021258.4:c.1144A>C, NM_021258.3:c.1144A>G, NM_021258.3:c.1144A>C, NP_067081.2:p.Ile382Val, NP_067081.2:p.Ile382Leu

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