Links from Gene
Items: 1 to 20 of 1000
1.
rs1491582552 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->GACTTTA
[Show Flanks]
- Chromosome:
- 8:78757655
(GRCh38)
8:79669891
(GRCh37)
- Canonical SPDI:
- NC_000008.11:78757655::GACTTTA
- Gene:
- IL7 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
GACTTTA=0./0
(
ALFA)
GACTTTA=0.000004/1
(TOPMED)
- HGVS:
2.
rs1491580700 has merged into rs200421095 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TATA>-,TA,TATATA,TATATAATAAATTATATATATTTATATAAATATATATA
[Show Flanks]
- Chromosome:
- 8:78687916
(GRCh38)
8:79600151
(GRCh37)
- Canonical SPDI:
- NC_000008.11:78687912:ATATATA:ATA,NC_000008.11:78687912:ATATATA:ATATA,NC_000008.11:78687912:ATATATA:ATATATATA,NC_000008.11:78687912:ATATATA:ATATATATAATAAATTATATATATTTATATAAATATATATA
- Gene:
- IL7 (Varview), ZC2HC1A (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATA=0./0
(
ALFA)
-=0.14672/2363
(TOMMO)
-=0.26018/1303
(1000Genomes)
- HGVS:
3.
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5.
rs1491394713 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 8:78688695
(GRCh38)
8:79600931
(GRCh37)
- Canonical SPDI:
- NC_000008.11:78688695:T:TT
- Gene:
- IL7 (Varview), ZC2HC1A (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TT=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
- HGVS:
6.
rs1491389514 has merged into rs3071074 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT
[Show Flanks]
- Chromosome:
- 8:78759227
(GRCh38)
8:79671462
(GRCh37)
- Canonical SPDI:
- NC_000008.11:78759216:TTTTTTTTTTTT:TTTTTTTTTT,NC_000008.11:78759216:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000008.11:78759216:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:78759216:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:78759216:TTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:78759216:TTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:78759216:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
- Gene:
- IL7 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000008.11:g.78759227_78759228del, NC_000008.11:g.78759228del, NC_000008.11:g.78759228dup, NC_000008.11:g.78759227_78759228dup, NC_000008.11:g.78759226_78759228dup, NC_000008.11:g.78759225_78759228dup, NC_000008.11:g.78759224_78759228dup, NC_000008.10:g.79671462_79671463del, NC_000008.10:g.79671463del, NC_000008.10:g.79671463dup, NC_000008.10:g.79671462_79671463dup, NC_000008.10:g.79671461_79671463dup, NC_000008.10:g.79671460_79671463dup, NC_000008.10:g.79671459_79671463dup
7.
rs1491283161 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 8:78688699
(GRCh38)
8:79600934
(GRCh37)
- Canonical SPDI:
- NC_000008.11:78688694:ATATAT:ATAT
- Gene:
- IL7 (Varview), ZC2HC1A (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATAT=0./0
(
ALFA)
-=0.00007/1
(TOMMO)
- HGVS:
9.
rs1491147805 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CT
[Show Flanks]
- Chromosome:
- 8:78759217
(GRCh38)
8:79671453
(GRCh37)
- Canonical SPDI:
- NC_000008.11:78759217:T:TCT
- Gene:
- IL7 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
TCT=0./0
(
ALFA)
TC=0.00003/2
(GnomAD)
- HGVS:
10.
rs1491133723 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 8:78686425
(GRCh38)
8:79598660
(GRCh37)
- Canonical SPDI:
- NC_000008.11:78686424:CT:
- Gene:
- IL7 (Varview), ZC2HC1A (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000027/3
(GnomAD)
-=0.000042/1
(GnomAD_exomes)
- HGVS:
11.
rs1491085704 has merged into rs35093575 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA,AAAAA,AAAAAA
[Show Flanks]
- Chromosome:
- 8:78742172
(GRCh38)
8:79654407
(GRCh37)
- Canonical SPDI:
- NC_000008.11:78742157:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:78742157:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:78742157:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:78742157:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:78742157:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000008.11:78742157:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
- Gene:
- IL7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAAAAA=0.0002/2
(
ALFA)
- HGVS:
NC_000008.11:g.78742172_78742174del, NC_000008.11:g.78742173_78742174del, NC_000008.11:g.78742174del, NC_000008.11:g.78742174dup, NC_000008.11:g.78742173_78742174dup, NC_000008.11:g.78742172_78742174dup, NC_000008.10:g.79654407_79654409del, NC_000008.10:g.79654408_79654409del, NC_000008.10:g.79654409del, NC_000008.10:g.79654409dup, NC_000008.10:g.79654408_79654409dup, NC_000008.10:g.79654407_79654409dup
12.
rs1491082222 has merged into rs200930977 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA,AAAA
[Show Flanks]
- Chromosome:
- 8:78751103
(GRCh38)
8:79663338
(GRCh37)
- Canonical SPDI:
- NC_000008.11:78751091:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000008.11:78751091:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:78751091:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:78751091:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA
- Gene:
- IL7 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAA=0.00049/5
(
ALFA)
-=0.15615/579
(TWINSUK)
-=0.15698/605
(ALSPAC)
- HGVS:
13.
rs1491078686 has merged into rs35466249 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT,TTTT,TTTTT
[Show Flanks]
- Chromosome:
- 8:78762662
(GRCh38)
8:79674897
(GRCh37)
- Canonical SPDI:
- NC_000008.11:78762652:TTTTTTTTTTT:TTTTTTTTT,NC_000008.11:78762652:TTTTTTTTTTT:TTTTTTTTTT,NC_000008.11:78762652:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:78762652:TTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:78762652:TTTTTTTTTTT:TTTTTTTTTTTTTT
- Gene:
- IL7 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.3814/1649
(1000Genomes)
- HGVS:
NC_000008.11:g.78762662_78762663del, NC_000008.11:g.78762663del, NC_000008.11:g.78762663dup, NC_000008.11:g.78762662_78762663dup, NC_000008.11:g.78762661_78762663dup, NC_000008.10:g.79674897_79674898del, NC_000008.10:g.79674898del, NC_000008.10:g.79674898dup, NC_000008.10:g.79674897_79674898dup, NC_000008.10:g.79674896_79674898dup, NG_026040.5:g.28_29del, NG_026040.5:g.29del, NG_026040.5:g.29dup, NG_026040.5:g.28_29dup, NG_026040.5:g.27_29dup
15.
rs1491031066 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G,T
[Show Flanks]
- Chromosome:
- 8:78717504
(GRCh38)
8:79629740
(GRCh37)
- Canonical SPDI:
- NC_000008.11:78717504::G,NC_000008.11:78717504::T
- Gene:
- IL7 (Varview), ZC2HC1A (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by cluster
- MAF:
G=0.00011/3
(TOMMO)
- HGVS:
NC_000008.11:g.78717504_78717505insG, NC_000008.11:g.78717504_78717505insT, NC_000008.10:g.79629739_79629740insG, NC_000008.10:g.79629739_79629740insT, NM_016010.3:c.*11_*12insG, NM_016010.3:c.*11_*12insT, NM_016010.2:c.*11_*12insG, NM_016010.2:c.*11_*12insT, NR_156423.2:n.1239_1240insG, NR_156423.2:n.1239_1240insT, NR_156423.1:n.1281_1282insG, NR_156423.1:n.1281_1282insT, NM_001362969.2:c.*11_*12insG, NM_001362969.2:c.*11_*12insT, NM_001362969.1:c.*11_*12insG, NM_001362969.1:c.*11_*12insT
17.
rs1491010918 has merged into rs35710652 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 8:78703549
(GRCh38)
8:79615784
(GRCh37)
- Canonical SPDI:
- NC_000008.11:78703536:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:78703536:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:78703536:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:78703536:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:78703536:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:78703536:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000008.11:78703536:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000008.11:78703536:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- IL7 (Varview), ZC2HC1A (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.25/10
(GENOME_DK)
-=0.3131/1568
(1000Genomes)
- HGVS:
NC_000008.11:g.78703549_78703552del, NC_000008.11:g.78703550_78703552del, NC_000008.11:g.78703551_78703552del, NC_000008.11:g.78703552del, NC_000008.11:g.78703552dup, NC_000008.11:g.78703551_78703552dup, NC_000008.11:g.78703550_78703552dup, NC_000008.11:g.78703552_78703553insTTTTTTTTTTTTTTTTT, NC_000008.10:g.79615784_79615787del, NC_000008.10:g.79615785_79615787del, NC_000008.10:g.79615786_79615787del, NC_000008.10:g.79615787del, NC_000008.10:g.79615787dup, NC_000008.10:g.79615786_79615787dup, NC_000008.10:g.79615785_79615787dup, NC_000008.10:g.79615787_79615788insTTTTTTTTTTTTTTTTT
18.
rs1490988796 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 8:78752336
(GRCh38)
8:79664571
(GRCh37)
- Canonical SPDI:
- NC_000008.11:78752335:G:A
- Gene:
- IL7 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
19.
rs1490949892 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CTC>-
[Show Flanks]
- Chromosome:
- 8:78802682
(GRCh38)
8:79714917
(GRCh37)
- Canonical SPDI:
- NC_000008.11:78802680:CCTC:C
- Gene:
- IL7 (Varview), LOC105375914 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS: