SNP Links for Gene (Select 53833) - SNP

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Select item 14915868561.

rs1491586856 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 3:136958933 (GRCh38)
3:136677775 (GRCh37)
Canonical SPDI:: NC_000003.12:136958931:TGT:T
Gene:: IL20RB (Varview), IL20RB-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00025/3 (ALFA)
-=0.10171/392 (ALSPAC)
-=0.10787/400 (TWINSUK)
HGVS:: NC_000003.12:g.136958933_136958934del, NC_000003.11:g.136677775_136677776del

Select item 14914779582.

rs1491477958 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 3:136963693 (GRCh38)
3:136682535 (GRCh37)
Canonical SPDI:: NC_000003.12:136963691:TAT:T
Gene:: IL20RB (Varview), IL20RB-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.00042/6 (TOMMO)
-=0.00047/40 (GnomAD)
-=0.00573/9 (Korea1K)
HGVS:: NC_000003.12:g.136963693_136963694del, NC_000003.11:g.136682535_136682536del

Select item 14913422273.

rs1491342227 has merged into rs3077025 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCTCTCTCT>-,CTCT,CTCTCT,CTCTCTCT,CTCTCTCTCTCT,CTCTCTCTCTCTCT,CTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCT [Show Flanks]
Chromosome:: 3:136958923 (GRCh38)
3:136677765 (GRCh37)
Canonical SPDI:: NC_000003.12:136958911:TCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCT,NC_000003.12:136958911:TCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCT,NC_000003.12:136958911:TCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCT,NC_000003.12:136958911:TCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCT,NC_000003.12:136958911:TCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCT,NC_000003.12:136958911:TCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCT,NC_000003.12:136958911:TCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000003.12:136958911:TCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000003.12:136958911:TCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000003.12:136958911:TCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000003.12:136958911:TCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000003.12:136958911:TCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT
Gene:: IL20RB (Varview), IL20RB-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCTCTCTCTCTCT=0./0 (ALFA)
TCTCTCTC=0.04293/215 (1000Genomes)
TCTCTC=0.325/13 (GENOME_DK)
HGVS:: NC_000003.12:g.136958913CT[5], NC_000003.12:g.136958913CT[7], NC_000003.12:g.136958913CT[8], NC_000003.12:g.136958913CT[9], NC_000003.12:g.136958913CT[11], NC_000003.12:g.136958913CT[12], NC_000003.12:g.136958913CT[13], NC_000003.12:g.136958913CT[14], NC_000003.12:g.136958913CT[15], NC_000003.12:g.136958913CT[16], NC_000003.12:g.136958913CT[17], NC_000003.12:g.136958913CT[18], NC_000003.11:g.136677755CT[5], NC_000003.11:g.136677755CT[7], NC_000003.11:g.136677755CT[8], NC_000003.11:g.136677755CT[9], NC_000003.11:g.136677755CT[11], NC_000003.11:g.136677755CT[12], NC_000003.11:g.136677755CT[13], NC_000003.11:g.136677755CT[14], NC_000003.11:g.136677755CT[15], NC_000003.11:g.136677755CT[16], NC_000003.11:g.136677755CT[17], NC_000003.11:g.136677755CT[18]

Select item 14912526174.

rs1491252617 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 3:136985338 (GRCh38)
3:136704181 (GRCh37)
Canonical SPDI:: NC_000003.12:136985338::C
Gene:: IL20RB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00017/2 (ALFA)
C=0.00018/3 (TOMMO)
C=0.00062/23 (GnomAD)
C=0.00547/10 (Korea1K)
HGVS:: NC_000003.12:g.136985338_136985339insC, NC_000003.11:g.136704180_136704181insC

Select item 14911325725.

rs1491132572 has merged into rs34403415 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 3:136962880 (GRCh38)
3:136681722 (GRCh37)
Canonical SPDI:: NC_000003.12:136962866:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:136962866:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:136962866:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:136962866:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:136962866:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:136962866:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:136962866:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:136962866:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: IL20RB (Varview), IL20RB-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000003.12:g.136962880_136962885del, NC_000003.12:g.136962881_136962885del, NC_000003.12:g.136962882_136962885del, NC_000003.12:g.136962883_136962885del, NC_000003.12:g.136962884_136962885del, NC_000003.12:g.136962885del, NC_000003.12:g.136962885dup, NC_000003.12:g.136962884_136962885dup, NC_000003.11:g.136681722_136681727del, NC_000003.11:g.136681723_136681727del, NC_000003.11:g.136681724_136681727del, NC_000003.11:g.136681725_136681727del, NC_000003.11:g.136681726_136681727del, NC_000003.11:g.136681727del, NC_000003.11:g.136681727dup, NC_000003.11:g.136681726_136681727dup

Select item 14911199586.

rs1491119958 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCTCTC [Show Flanks]
Chromosome:: 3:136958912 (GRCh38)
3:136677755 (GRCh37)
Canonical SPDI:: NC_000003.12:136958912:CTCTC:CTCTCCCTCTC
Gene:: IL20RB (Varview), IL20RB-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CTCTCCCTCTC=0./0 (ALFA)
CTCTCC=0.0001/4 (GnomAD)
HGVS:: NC_000003.12:g.136958913_136958917CT[2]CCCTCTC[1], NC_000003.11:g.136677755_136677759CT[2]CCCTCTC[1]

Select item 14909753667.

rs1490975366 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 3:137006055 (GRCh38)
3:136724897 (GRCh37)
Canonical SPDI:: NC_000003.12:137006054:T:A,NC_000003.12:137006054:T:C
Gene:: IL20RB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.137006055T>A, NC_000003.12:g.137006055T>C, NC_000003.11:g.136724897T>A, NC_000003.11:g.136724897T>C

Select item 14909521888.

rs1490952188 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 3:137005967 (GRCh38)
3:136724809 (GRCh37)
Canonical SPDI:: NC_000003.12:137005966:C:A,NC_000003.12:137005966:C:G
Gene:: IL20RB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
A=0.00068/2 (KOREAN)
HGVS:: NC_000003.12:g.137005967C>A, NC_000003.12:g.137005967C>G, NC_000003.11:g.136724809C>A, NC_000003.11:g.136724809C>G

Select item 14909399449.

rs1490939944 [Homo sapiens]

Variant type:: DEL
Alleles:: GACCGAGTCTCG>- [Show Flanks]
Chromosome:: 3:136960169 (GRCh38)
3:136679011 (GRCh37)
Canonical SPDI:: NC_000003.12:136960168:GACCGAGTCTCG:
Gene:: IL20RB (Varview), IL20RB-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
HGVS:: NC_000003.12:g.136960169_136960180del, NC_000003.11:g.136679011_136679022del

Select item 149089162310.

rs1490891623 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 3:136972667 (GRCh38)
3:136691509 (GRCh37)
Canonical SPDI:: NC_000003.12:136972666:A:
Gene:: IL20RB (Varview), IL20RB-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000224/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000223/1 (Estonian)
HGVS:: NC_000003.12:g.136972667del, NC_000003.11:g.136691509del

Select item 149083037811.

rs1490830378 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:136998345 (GRCh38)
3:136717187 (GRCh37)
Canonical SPDI:: NC_000003.12:136998344:G:A
Gene:: IL20RB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000003.12:g.136998345G>A, NC_000003.11:g.136717187G>A

Select item 149074697312.

rs1490746973 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:136991137 (GRCh38)
3:136709979 (GRCh37)
Canonical SPDI:: NC_000003.12:136991136:G:A
Gene:: IL20RB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000094/1 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.136991137G>A, NC_000003.11:g.136709979G>A

Select item 149057453713.

rs1490574537 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:136999447 (GRCh38)
3:136718289 (GRCh37)
Canonical SPDI:: NC_000003.12:136999446:C:A
Gene:: IL20RB (Varview)
Functional Consequence:: intron_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_000003.12:g.136999447C>A, NC_000003.11:g.136718289C>A

Select item 149042458814.

rs1490424588 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:136990276 (GRCh38)
3:136709118 (GRCh37)
Canonical SPDI:: NC_000003.12:136990275:C:A
Gene:: IL20RB (Varview)
Functional Consequence:: intron_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_000003.12:g.136990276C>A, NC_000003.11:g.136709118C>A

Select item 149039933015.

rs1490399330 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 3:136973736 (GRCh38)
3:136692578 (GRCh37)
Canonical SPDI:: NC_000003.12:136973735:G:A,NC_000003.12:136973735:G:T
Gene:: IL20RB (Varview), IL20RB-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.136973736G>A, NC_000003.12:g.136973736G>T, NC_000003.11:g.136692578G>A, NC_000003.11:g.136692578G>T

Select item 149039842616.

rs1490398426 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 3:137011375 (GRCh38)
3:136730218 (GRCh37)
Canonical SPDI:: NC_000003.12:137011375:T:TT
Gene:: IL20RB (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.137011376dup, NC_000003.11:g.136730218dup

Select item 149033405617.

rs1490334056 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:136956200 (GRCh38)
3:136675042 (GRCh37)
Canonical SPDI:: NC_000003.12:136956199:T:C
Gene:: IL20RB (Varview), IL20RB-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000003.12:g.136956200T>C, NC_000003.11:g.136675042T>C

Select item 149032685218.

rs1490326852 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:136984572 (GRCh38)
3:136703414 (GRCh37)
Canonical SPDI:: NC_000003.12:136984571:A:C
Gene:: IL20RB (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_000003.12:g.136984572A>C, NC_000003.11:g.136703414A>C

Select item 149030438319.

rs1490304383 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:136969391 (GRCh38)
3:136688233 (GRCh37)
Canonical SPDI:: NC_000003.12:136969390:G:C
Gene:: IL20RB (Varview), IL20RB-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000003.12:g.136969391G>C, NC_000003.11:g.136688233G>C

Select item 149025452720.

rs1490254527 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:136992198 (GRCh38)
3:136711040 (GRCh37)
Canonical SPDI:: NC_000003.12:136992197:T:G
Gene:: IL20RB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.136992198T>G, NC_000003.11:g.136711040T>G

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