SNP Links for Gene (Select 50616) - SNP

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Select item 14914384561.

rs1491438456 has merged into rs10699698 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>-,TATA [Show Flanks]
Chromosome:: 12:68254523 (GRCh38)
12:68648303 (GRCh37)
Canonical SPDI:: NC_000012.12:68254517:ATATATA:ATATA,NC_000012.12:68254517:ATATATA:ATATATATA
Gene:: IL22 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATA=0.17425/2067 (ALFA)
AT=0.125/5 (GENOME_DK)
AT=0.16934/169 (GoNL)
AT=0.17022/303 (Korea1K)
AT=0.17069/99 (NorthernSweden)
AT=0.19333/3148 (TOMMO)
AT=0.19628/1257 (1000Genomes)
AT=0.27549/27526 (GnomAD)
HGVS:: NC_000012.12:g.68254519TA[2], NC_000012.12:g.68254519TA[4], NC_000012.11:g.68648299TA[2], NC_000012.11:g.68648299TA[4], NG_060763.1:g.4082AT[2], NG_060763.1:g.4082AT[4]

Select item 14913333592.

rs1491333359 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 12:68252809 (GRCh38)
12:68646589 (GRCh37)
Canonical SPDI:: NC_000012.12:68252805:TGTGT:TGT
Gene:: IL22 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: TGT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.68252807GT[1], NC_000012.11:g.68646587GT[1], NG_060763.1:g.5796CA[1], NM_020525.5:c.209_210del, NM_020525.4:c.209_210del, NP_065386.1:p.Thr70fs

Select item 14910119893.

rs1491011989 has merged into rs34979529 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA [Show Flanks]
Chromosome:: 12:68253101 (GRCh38)
12:68646881 (GRCh37)
Canonical SPDI:: NC_000012.12:68253090:AAAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:68253090:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:68253090:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:68253090:AAAAAAAAAAAA:AAAAAAAAAAAAAA
Gene:: IL22 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.3854/1429 (TWINSUK)
-=0.3871/1492 (ALSPAC)
A=0.4968/2488 (1000Genomes)
HGVS:: NC_000012.12:g.68253101_68253102del, NC_000012.12:g.68253102del, NC_000012.12:g.68253102dup, NC_000012.12:g.68253101_68253102dup, NC_000012.11:g.68646881_68646882del, NC_000012.11:g.68646882del, NC_000012.11:g.68646882dup, NC_000012.11:g.68646881_68646882dup, NG_060763.1:g.5513_5514del, NG_060763.1:g.5514del, NG_060763.1:g.5514dup, NG_060763.1:g.5513_5514dup

Select item 14904422494.

rs1490442249 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:68249852 (GRCh38)
12:68643632 (GRCh37)
Canonical SPDI:: NC_000012.12:68249851:C:T
Gene:: IL22 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.68249852C>T, NC_000012.11:g.68643632C>T, NG_060763.1:g.8753G>A

Select item 14902800315.

rs1490280031 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:68250310 (GRCh38)
12:68644090 (GRCh37)
Canonical SPDI:: NC_000012.12:68250309:G:A,NC_000012.12:68250309:G:T
Gene:: IL22 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.68250310G>A, NC_000012.12:g.68250310G>T, NC_000012.11:g.68644090G>A, NC_000012.11:g.68644090G>T, NG_060763.1:g.8295C>T, NG_060763.1:g.8295C>A

Select item 14894799386.

rs1489479938 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 12:68250318 (GRCh38)
12:68644098 (GRCh37)
Canonical SPDI:: NC_000012.12:68250317:T:A,NC_000012.12:68250317:T:C
Gene:: IL22 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000036/5 (GnomAD)
HGVS:: NC_000012.12:g.68250318T>A, NC_000012.12:g.68250318T>C, NC_000012.11:g.68644098T>A, NC_000012.11:g.68644098T>C, NG_060763.1:g.8287A>T, NG_060763.1:g.8287A>G

Select item 14891269827.

rs1489126982 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:68251414 (GRCh38)
12:68645194 (GRCh37)
Canonical SPDI:: NC_000012.12:68251413:A:G
Gene:: IL22 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000264/4 (ALFA)
G=0.000036/5 (GnomAD)
G=0.000893/4 (Estonian)
HGVS:: NC_000012.12:g.68251414A>G, NC_000012.11:g.68645194A>G, NG_060763.1:g.7191T>C

Select item 14888197848.

rs1488819784 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:68251807 (GRCh38)
12:68645587 (GRCh37)
Canonical SPDI:: NC_000012.12:68251806:T:A
Gene:: IL22 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.68251807T>A, NC_000012.11:g.68645587T>A, NG_060763.1:g.6798A>T

Select item 14888080109.

rs1488808010 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:68251210 (GRCh38)
12:68644990 (GRCh37)
Canonical SPDI:: NC_000012.12:68251209:G:C
Gene:: IL22 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.68251210G>C, NC_000012.11:g.68644990G>C, NG_060763.1:g.7395C>G

Select item 148861111410.

rs1488611114 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:68251222 (GRCh38)
12:68645002 (GRCh37)
Canonical SPDI:: NC_000012.12:68251221:A:G
Gene:: IL22 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.68251222A>G, NC_000012.11:g.68645002A>G, NG_060763.1:g.7383T>C

Select item 148677412211.

rs1486774122 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:68248791 (GRCh38)
12:68642571 (GRCh37)
Canonical SPDI:: NC_000012.12:68248790:T:G
Gene:: IL22 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.68248791T>G, NC_000012.11:g.68642571T>G, NG_060763.1:g.9814A>C, NM_020525.5:c.*8A>C, NM_020525.4:c.*8A>C

Select item 148552123312.

rs1485521233 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:68250595 (GRCh38)
12:68644375 (GRCh37)
Canonical SPDI:: NC_000012.12:68250594:G:T
Gene:: IL22 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000026/7 (TOPMED)
HGVS:: NC_000012.12:g.68250595G>T, NC_000012.11:g.68644375G>T, NG_060763.1:g.8010C>A

Select item 148545509713.

rs1485455097 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:68253347 (GRCh38)
12:68647127 (GRCh37)
Canonical SPDI:: NC_000012.12:68253346:C:A
Gene:: IL22 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000012.12:g.68253347C>A, NC_000012.11:g.68647127C>A, NG_060763.1:g.5258G>T, NM_020525.5:c.102G>T, NM_020525.4:c.102G>T

Select item 148541742314.

rs1485417423 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 12:68248565 (GRCh38)
12:68642345 (GRCh37)
Canonical SPDI:: NC_000012.12:68248564:A:C,NC_000012.12:68248564:A:G
Gene:: IL22 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.68248565A>C, NC_000012.12:g.68248565A>G, NC_000012.11:g.68642345A>C, NC_000012.11:g.68642345A>G, NG_060763.1:g.10040T>G, NG_060763.1:g.10040T>C, NM_020525.5:c.*234T>G, NM_020525.5:c.*234T>C, NM_020525.4:c.*234T>G, NM_020525.4:c.*234T>C

Select item 148492089015.

rs1484920890 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:68248329 (GRCh38)
12:68642109 (GRCh37)
Canonical SPDI:: NC_000012.12:68248328:C:T
Gene:: IL22 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.68248329C>T, NC_000012.11:g.68642109C>T, NG_060763.1:g.10276G>A, NM_020525.5:c.*470G>A, NM_020525.4:c.*470G>A

Select item 148482096116.

rs1484820961 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:68249651 (GRCh38)
12:68643431 (GRCh37)
Canonical SPDI:: NC_000012.12:68249650:T:A
Gene:: IL22 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000012.12:g.68249651T>A, NC_000012.11:g.68643431T>A, NG_060763.1:g.8954A>T

Select item 148478908017.

rs1484789080 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 12:68250646 (GRCh38)
12:68644426 (GRCh37)
Canonical SPDI:: NC_000012.12:68250645:CC:C
Gene:: IL22 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.68250647del, NC_000012.11:g.68644427del, NG_060763.1:g.7959del

Select item 148387184818.

rs1483871848 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:68253081 (GRCh38)
12:68646861 (GRCh37)
Canonical SPDI:: NC_000012.12:68253080:G:A,NC_000012.12:68253080:G:C
Gene:: IL22 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00053/8 (ALFA)
C=0.00449/75 (TOMMO)
HGVS:: NC_000012.12:g.68253081G>A, NC_000012.12:g.68253081G>C, NC_000012.11:g.68646861G>A, NC_000012.11:g.68646861G>C, NG_060763.1:g.5524C>T, NG_060763.1:g.5524C>G

Select item 148382025819.

rs1483820258 [Homo sapiens]

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

Select item 148372674420.

rs1483726744 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:68254918 (GRCh38)
12:68648698 (GRCh37)
Canonical SPDI:: NC_000012.12:68254917:G:A
Gene:: IL22 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_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_000012.12:g.68254918G>A, NC_000012.11:g.68648698G>A, NG_060763.1:g.3687C>T

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