Links from Gene
Items: 1 to 20 of 32345
1.
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:
2.
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:
3.
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:
4.
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
7.
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:
9.
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
10.
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:
11.
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:
12.
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:
13.
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:
14.
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
15.
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:
17.
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: