SNP Links for Gene (Select 22807) - SNP

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Select item 14915849521.

rs1491584952 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AC,ACTC,ACTCGCGCGCAC [Show Flanks]
Chromosome:: 2:213124236 (GRCh38)
2:213988961 (GRCh37)
Canonical SPDI:: NC_000002.12:213124236:C:CAC,NC_000002.12:213124236:C:CACTC,NC_000002.12:213124236:C:CACTCGCGCGCAC
Gene:: IKZF2 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACTC=0./0 (ALFA)
CACT=0.04013/24 (NorthernSweden)
CACT=0.05002/221 (Estonian)
CACT=0.17144/311 (Korea1K)
HGVS:: NC_000002.12:g.213124237_213124238insAC, NC_000002.12:g.213124237_213124238insACTC, NC_000002.12:g.213124237_213124238insACTCGCGCGCAC, NC_000002.11:g.213988961_213988962insAC, NC_000002.11:g.213988961_213988962insACTC, NC_000002.11:g.213988961_213988962insACTCGCGCGCAC, XM_011510818.4:c.-26381_-26380insTG, XM_011510818.4:c.-26381_-26380insAGTG, XM_011510818.4:c.-26381_-26380insTGCGCGCGAGTG

Select item 14915819382.

rs1491581938 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 2:213145188 (GRCh38)
2:214009913 (GRCh37)
Canonical SPDI:: NC_000002.12:213145188::G
Gene:: IKZF2 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.213145188_213145189insG, NC_000002.11:g.214009912_214009913insG, XM_011510818.4:c.-47333_-47332insC

Select item 14915577233.

rs1491557723 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,G,T [Show Flanks]
Chromosome:: 2:213149778 (GRCh38)
2:214014503 (GRCh37)
Canonical SPDI:: NC_000002.12:213149778::A,NC_000002.12:213149778::G,NC_000002.12:213149778::T
Gene:: IKZF2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
A=0.000213/20 (GnomAD)
HGVS:: NC_000002.12:g.213149778_213149779insA, NC_000002.12:g.213149778_213149779insG, NC_000002.12:g.213149778_213149779insT, NC_000002.11:g.214014502_214014503insA, NC_000002.11:g.214014502_214014503insG, NC_000002.11:g.214014502_214014503insT

Select item 14915284784.

rs1491528478 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA [Show Flanks]
Chromosome:: 2:213147686 (GRCh38)
2:214012410 (GRCh37)
Canonical SPDI:: NC_000002.12:213147679:AAAAAAAAA:AAAAAA,NC_000002.12:213147679:AAAAAAAAA:AAAAAAA,NC_000002.12:213147679:AAAAAAAAA:AAAAAAAA,NC_000002.12:213147679:AAAAAAAAA:AAAAAAAAAA
Gene:: IKZF2 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
-=0.02238/41 (Korea1K)
-=0.025/1 (GENOME_DK)
-=0.288423/31422 (ExAC)
HGVS:: NC_000002.12:g.213147686_213147688del, NC_000002.12:g.213147687_213147688del, NC_000002.12:g.213147688del, NC_000002.12:g.213147688dup, NC_000002.11:g.214012410_214012412del, NC_000002.11:g.214012411_214012412del, NC_000002.11:g.214012412del, NC_000002.11:g.214012412dup, XM_011510818.4:c.-49826_-49824del, XM_011510818.4:c.-49825_-49824del, XM_011510818.4:c.-49824del, XM_011510818.4:c.-49824dup, XM_011510816.4:c.-145_-143del, XM_011510816.4:c.-144_-143del, XM_011510816.4:c.-143del, XM_011510816.4:c.-143dup, XM_011510816.3:c.-145_-143del, XM_011510816.3:c.-144_-143del, XM_011510816.3:c.-143del, XM_011510816.3:c.-143dup, XM_011510816.2:c.-145_-143del, XM_011510816.2:c.-144_-143del, XM_011510816.2:c.-143del, XM_011510816.2:c.-143dup, XM_047443726.1:c.-145_-143del, XM_047443726.1:c.-144_-143del, XM_047443726.1:c.-143del, XM_047443726.1:c.-143dup

Select item 14915227145.

rs1491522714 [Homo sapiens]

Variant type:: SNV:
Alleles:: TT>-
Chromosome:: no mapping
Canonical SPDI:

Select item 14914835076.

rs1491483507 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 2:213150702 (GRCh38)
2:214015426 (GRCh37)
Canonical SPDI:: NC_000002.12:213150701:AG:
Gene:: IKZF2 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000002.12:g.213150702_213150703del, NC_000002.11:g.214015426_214015427del

Select item 14914782597.

rs1491478259 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GG,TG [Show Flanks]
Chromosome:: 2:213124241 (GRCh38)
2:213988966 (GRCh37)
Canonical SPDI:: NC_000002.12:213124241:G:GGG,NC_000002.12:213124241:G:GTG
Gene:: IKZF2 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTG=0./0 (ALFA)
GT=0.00138/6 (Estonian)
HGVS:: NC_000002.12:g.213124242_213124243insGG, NC_000002.12:g.213124242_213124243insTG, NC_000002.11:g.213988966_213988967insGG, NC_000002.11:g.213988966_213988967insTG, XM_011510818.4:c.-26386_-26385insCC, XM_011510818.4:c.-26386_-26385insAC

Select item 14914733028.

rs1491473302 [Homo sapiens]

Variant type:: DELINS
Alleles:: GC>-,GCGC,GCGCGCGC [Show Flanks]
Chromosome:: 2:213124238 (GRCh38)
2:213988962 (GRCh37)
Canonical SPDI:: NC_000002.12:213124235:GCGC:GC,NC_000002.12:213124235:GCGC:GCGCGC,NC_000002.12:213124235:GCGC:GCGCGCGCGC
Gene:: IKZF2 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCGCGC=0./0 (ALFA)
HGVS:: NC_000002.12:g.213124236GC[1], NC_000002.12:g.213124236GC[3], NC_000002.12:g.213124236GC[5], NC_000002.11:g.213988960GC[1], NC_000002.11:g.213988960GC[3], NC_000002.11:g.213988960GC[5], XM_011510818.4:c.-26383GC[1], XM_011510818.4:c.-26383GC[3], XM_011510818.4:c.-26383GC[5]

Select item 14914549189.

rs1491454918 has merged into rs112304660 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,C,CCC,CCCC,CCCCC,CCCCCC [Show Flanks]
Chromosome:: 2:213149786 (GRCh38)
2:214014510 (GRCh37)
Canonical SPDI:: NC_000002.12:213149777:CCCCCCCCCC:CCCCCCCC,NC_000002.12:213149777:CCCCCCCCCC:CCCCCCCCC,NC_000002.12:213149777:CCCCCCCCCC:CCCCCCCCCCC,NC_000002.12:213149777:CCCCCCCCCC:CCCCCCCCCCCC,NC_000002.12:213149777:CCCCCCCCCC:CCCCCCCCCCCCC,NC_000002.12:213149777:CCCCCCCCCC:CCCCCCCCCCCCCC
Gene:: IKZF2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCCCCC=0./0 (ALFA)
-=0.0601/1007 (TOMMO)
-=0.07541/138 (Korea1K)
HGVS:: NC_000002.12:g.213149786_213149787del, NC_000002.12:g.213149787del, NC_000002.12:g.213149787dup, NC_000002.12:g.213149786_213149787dup, NC_000002.12:g.213149785_213149787dup, NC_000002.12:g.213149784_213149787dup, NC_000002.11:g.214014510_214014511del, NC_000002.11:g.214014511del, NC_000002.11:g.214014511dup, NC_000002.11:g.214014510_214014511dup, NC_000002.11:g.214014509_214014511dup, NC_000002.11:g.214014508_214014511dup

Select item 149143693910.

rs1491436939 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 2:213060320 (GRCh38)
2:213925044 (GRCh37)
Canonical SPDI:: NC_000002.12:213060319:TT:
Gene:: IKZF2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000783/11 (ALFA)
-=0.000106/2 (TOMMO)
-=0.000156/1 (1000Genomes)
-=0.000775/108 (GnomAD)
-=0.000892/236 (TOPMED)
HGVS:: NC_000002.12:g.213060320_213060321del, NC_000002.11:g.213925044_213925045del

Select item 149136442011.

rs1491364420 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 2:213010671 (GRCh38)
2:213875395 (GRCh37)
Canonical SPDI:: NC_000002.12:213010670:AT:
Gene:: IKZF2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000186/26 (GnomAD)
-=0.000227/60 (TOPMED)
HGVS:: NC_000002.12:g.213010671_213010672del, NC_000002.11:g.213875395_213875396del

Select item 149136430912.

rs1491364309 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 2:213139557 (GRCh38)
2:214004281 (GRCh37)
Canonical SPDI:: NC_000002.12:213139556:AT:
Gene:: IKZF2 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0.000071/1 (ALFA)
-=0.000048/6 (GnomAD)
HGVS:: NC_000002.12:g.213139557_213139558del, NC_000002.11:g.214004281_214004282del, XM_011510818.4:c.-41702_-41701del

Select item 149136406313.

rs1491364063 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>- [Show Flanks]
Chromosome:: 2:213046051 (GRCh38)
2:213910775 (GRCh37)
Canonical SPDI:: NC_000002.12:213046049:CCC:C
Gene:: IKZF2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00147/24 (ALFA)
-=0.00273/5 (Korea1K)
HGVS:: NC_000002.12:g.213046051_213046052del, NC_000002.11:g.213910775_213910776del

Select item 149130974914.

rs1491309749 has merged into rs369935563 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:213008126 (GRCh38)
2:213872850 (GRCh37)
Canonical SPDI:: NC_000002.12:213008112:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:213008112:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:213008112:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:213008112:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:213008112:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:213008112:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:213008112:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: IKZF2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.2/8 (GENOME_DK)
HGVS:: NC_000002.12:g.213008126_213008128del, NC_000002.12:g.213008127_213008128del, NC_000002.12:g.213008128del, NC_000002.12:g.213008128dup, NC_000002.12:g.213008127_213008128dup, NC_000002.12:g.213008126_213008128dup, NC_000002.12:g.213008119_213008128dup, NC_000002.11:g.213872850_213872852del, NC_000002.11:g.213872851_213872852del, NC_000002.11:g.213872852del, NC_000002.11:g.213872852dup, NC_000002.11:g.213872851_213872852dup, NC_000002.11:g.213872850_213872852dup, NC_000002.11:g.213872843_213872852dup

Select item 149129704415.

rs1491297044 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:213149787 (GRCh38)
2:214014511 (GRCh37)
Canonical SPDI:: NC_000002.12:213149786:CA:
Gene:: IKZF2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.000084/1 (ALFA)
-=0.000126/15 (GnomAD)
HGVS:: NC_000002.12:g.213149787_213149788del, NC_000002.11:g.214014511_214014512del

Select item 149127921316.

rs1491279213 [Homo sapiens]

Variant type:: INS
Alleles:: ->ACGGCGA [Show Flanks]
Chromosome:: 2:213033075 (GRCh38)
2:213897800 (GRCh37)
Canonical SPDI:: NC_000002.12:213033075::ACGGCGA
Gene:: IKZF2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACGGCGA=0.0029/13 (ALFA)
HGVS:: NC_000002.12:g.213033075_213033076insACGGCGA, NC_000002.11:g.213897799_213897800insACGGCGA

Select item 149126784417.

rs1491267844 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GC [Show Flanks]
Chromosome:: 2:213139572 (GRCh38)
2:214004297 (GRCh37)
Canonical SPDI:: NC_000002.12:213139572:GC:GCGC
Gene:: IKZF2 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: GCGC=0.000071/1 (ALFA)
GC=0.000036/5 (GnomAD)
HGVS:: NC_000002.12:g.213139573_213139574dup, NC_000002.11:g.214004297_214004298dup, XM_011510818.4:c.-41718_-41717dup

Select item 149126521318.

rs1491265213 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->CGCCG
Chromosome:: no mapping
Canonical SPDI:

Select item 149125599019.

rs1491255990 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 2:213124235 (GRCh38)
2:213988959 (GRCh37)
Canonical SPDI:: NC_000002.12:213124234:TG:
Gene:: IKZF2 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000002.12:g.213124235_213124236del, NC_000002.11:g.213988959_213988960del, XM_011510818.4:c.-26380_-26379del

Select item 149125214820.

rs1491252148 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:213136048 (GRCh38)
2:214000772 (GRCh37)
Canonical SPDI:: NC_000002.12:213136047:CA:
Gene:: IKZF2 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000002.12:g.213136048_213136049del, NC_000002.11:g.214000772_214000773del, XM_011510818.4:c.-38193_-38192del