Links from Gene
Items: 1 to 20 of 1000
1.
rs1491504249 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AGGGAG
[Show Flanks]
- Chromosome:
- 22:37125506
(GRCh38)
22:37521547
(GRCh37)
- Canonical SPDI:
- NC_000022.11:37125506:GAG:GAGAGGGAG
- Gene:
- IL2RB (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GAGAGGGAG=0.01787/212
(
ALFA)
GAGAGG=0.00003/1
(GnomAD)
- HGVS:
3.
rs1491377489 has merged into rs376852362 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GGGGGGGG>-,GGGG,GGGGG,GGGGGG,GGGGGGG,GGGGGGGGG,GGGGGGGGGG,GGGGGGGGGGG,GGGGGGGGGGGG,GGGGGGGGGGGGG,GGGGGGGGGGGGGG,GGGGGGGGGGGGGGGG
[Show Flanks]
- Chromosome:
- 22:37125510
(GRCh38)
22:37521550
(GRCh37)
- Canonical SPDI:
- NC_000022.11:37125508:GGGGGGGGG:G,NC_000022.11:37125508:GGGGGGGGG:GGGGG,NC_000022.11:37125508:GGGGGGGGG:GGGGGG,NC_000022.11:37125508:GGGGGGGGG:GGGGGGG,NC_000022.11:37125508:GGGGGGGGG:GGGGGGGG,NC_000022.11:37125508:GGGGGGGGG:GGGGGGGGGG,NC_000022.11:37125508:GGGGGGGGG:GGGGGGGGGGG,NC_000022.11:37125508:GGGGGGGGG:GGGGGGGGGGGG,NC_000022.11:37125508:GGGGGGGGG:GGGGGGGGGGGGG,NC_000022.11:37125508:GGGGGGGGG:GGGGGGGGGGGGGG,NC_000022.11:37125508:GGGGGGGGG:GGGGGGGGGGGGGGG,NC_000022.11:37125508:GGGGGGGGG:GGGGGGGGGGGGGGGGG
- Gene:
- IL2RB (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000022.11:g.37125510_37125517del, NC_000022.11:g.37125514_37125517del, NC_000022.11:g.37125515_37125517del, NC_000022.11:g.37125516_37125517del, NC_000022.11:g.37125517del, NC_000022.11:g.37125517dup, NC_000022.11:g.37125516_37125517dup, NC_000022.11:g.37125515_37125517dup, NC_000022.11:g.37125514_37125517dup, NC_000022.11:g.37125513_37125517dup, NC_000022.11:g.37125512_37125517dup, NC_000022.11:g.37125510_37125517dup, NC_000022.10:g.37521550_37521557del, NC_000022.10:g.37521554_37521557del, NC_000022.10:g.37521555_37521557del, NC_000022.10:g.37521556_37521557del, NC_000022.10:g.37521557del, NC_000022.10:g.37521557dup, NC_000022.10:g.37521556_37521557dup, NC_000022.10:g.37521555_37521557dup, NC_000022.10:g.37521554_37521557dup, NC_000022.10:g.37521553_37521557dup, NC_000022.10:g.37521552_37521557dup, NC_000022.10:g.37521550_37521557dup
4.
rs1491346473 has merged into rs58875564 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GCGC>-,GC,GCGCGC
[Show Flanks]
- Chromosome:
- 22:37143921
(GRCh38)
22:37539961
(GRCh37)
- Canonical SPDI:
- NC_000022.11:37143918:GCGCGC:GC,NC_000022.11:37143918:GCGCGC:GCGC,NC_000022.11:37143918:GCGCGC:GCGCGCGC
- Gene:
- IL2RB (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GC=0./0
(
ALFA)
-=0.17467/320
(Korea1K)
-=0.1814/3032
(TOMMO)
-=0.265/159
(NorthernSweden)
-=0.29761/1147
(ALSPAC)
-=0.31958/1185
(TWINSUK)
-=0.46945/2351
(1000Genomes)
- HGVS:
5.
rs1491336138 has merged into rs10605445 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 22:37160689
(GRCh38)
22:37556729
(GRCh37)
- Canonical SPDI:
- NC_000022.11:37160679:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000022.11:37160679:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000022.11:37160679:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000022.11:37160679:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000022.11:37160679:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000022.11:37160679:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000022.11:37160679:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000022.11:37160679:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000022.11:37160679:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000022.11:37160679:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000022.11:37160679:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:37160679:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:37160679:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:37160679:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:37160679:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:37160679:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:37160679:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:37160679:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:37160679:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:37160679:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:37160679:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:37160679:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:37160679:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:37160679:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:37160679:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:37160679:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:37160679:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:37160679:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:37160679:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:37160679:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:37160679:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:37160679:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:37160679:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:37160679:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:37160679:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:37160679:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- IL2RB (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAA=0./0
(
ALFA)
AAA=0.2264/1134
(1000Genomes)
- HGVS:
NC_000022.11:g.37160689_37160698del, NC_000022.11:g.37160692_37160698del, NC_000022.11:g.37160693_37160698del, NC_000022.11:g.37160694_37160698del, NC_000022.11:g.37160695_37160698del, NC_000022.11:g.37160696_37160698del, NC_000022.11:g.37160697_37160698del, NC_000022.11:g.37160698del, NC_000022.11:g.37160698dup, NC_000022.11:g.37160697_37160698dup, NC_000022.11:g.37160696_37160698dup, NC_000022.11:g.37160695_37160698dup, NC_000022.11:g.37160694_37160698dup, NC_000022.11:g.37160692_37160698dup, NC_000022.11:g.37160691_37160698dup, NC_000022.11:g.37160690_37160698dup, NC_000022.11:g.37160689_37160698dup, NC_000022.11:g.37160688_37160698dup, NC_000022.11:g.37160687_37160698dup, NC_000022.11:g.37160686_37160698dup, NC_000022.11:g.37160685_37160698dup, NC_000022.11:g.37160684_37160698dup, NC_000022.11:g.37160683_37160698dup, NC_000022.11:g.37160682_37160698dup, NC_000022.11:g.37160681_37160698dup, NC_000022.11:g.37160680_37160698dup, NC_000022.11:g.37160698_37160699insAAAAAAAAAAAAAAAAAAAA, NC_000022.11:g.37160698_37160699insAAAAAAAAAAAAAAAAAAAAA, NC_000022.11:g.37160698_37160699insAAAAAAAAAAAAAAAAAAAAAA, NC_000022.11:g.37160698_37160699insAAAAAAAAAAAAAAAAAAAAAAA, NC_000022.11:g.37160698_37160699insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000022.11:g.37160698_37160699insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000022.11:g.37160698_37160699insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000022.11:g.37160698_37160699insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000022.11:g.37160698_37160699insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000022.11:g.37160698_37160699insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000022.10:g.37556729_37556738del, NC_000022.10:g.37556732_37556738del, NC_000022.10:g.37556733_37556738del, NC_000022.10:g.37556734_37556738del, NC_000022.10:g.37556735_37556738del, NC_000022.10:g.37556736_37556738del, NC_000022.10:g.37556737_37556738del, NC_000022.10:g.37556738del, NC_000022.10:g.37556738dup, NC_000022.10:g.37556737_37556738dup, NC_000022.10:g.37556736_37556738dup, NC_000022.10:g.37556735_37556738dup, NC_000022.10:g.37556734_37556738dup, NC_000022.10:g.37556732_37556738dup, NC_000022.10:g.37556731_37556738dup, NC_000022.10:g.37556730_37556738dup, NC_000022.10:g.37556729_37556738dup, NC_000022.10:g.37556728_37556738dup, NC_000022.10:g.37556727_37556738dup, NC_000022.10:g.37556726_37556738dup, NC_000022.10:g.37556725_37556738dup, NC_000022.10:g.37556724_37556738dup, NC_000022.10:g.37556723_37556738dup, NC_000022.10:g.37556722_37556738dup, NC_000022.10:g.37556721_37556738dup, NC_000022.10:g.37556720_37556738dup, NC_000022.10:g.37556738_37556739insAAAAAAAAAAAAAAAAAAAA, NC_000022.10:g.37556738_37556739insAAAAAAAAAAAAAAAAAAAAA, NC_000022.10:g.37556738_37556739insAAAAAAAAAAAAAAAAAAAAAA, NC_000022.10:g.37556738_37556739insAAAAAAAAAAAAAAAAAAAAAAA, NC_000022.10:g.37556738_37556739insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000022.10:g.37556738_37556739insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000022.10:g.37556738_37556739insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000022.10:g.37556738_37556739insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000022.10:g.37556738_37556739insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000022.10:g.37556738_37556739insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
6.
rs1491314148 has merged into rs1466126035 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AG>-,AGAG,AGAGAGAG,AGAGAGAGAG,AGAGGGAGAG
[Show Flanks]
- Chromosome:
- 22:37125508
(GRCh38)
22:37521548
(GRCh37)
- Canonical SPDI:
- NC_000022.11:37125505:AGAG:AG,NC_000022.11:37125505:AGAG:AGAGAG,NC_000022.11:37125505:AGAG:AGAGAGAGAG,NC_000022.11:37125505:AGAG:AGAGAGAGAGAG,NC_000022.11:37125505:AGAG:AGAGAGGGAGAG
- Gene:
- IL2RB (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGAGAGAGAG=0./0
(
ALFA)
-=0.02249/13
(NorthernSweden)
GA=0.0411/72
(Korea1K)
AG=0.07998/1230
(TOMMO)
- HGVS:
7.
rs1491045717 has merged into rs67046193 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 22:37152940
(GRCh38)
22:37548980
(GRCh37)
- Canonical SPDI:
- NC_000022.11:37152929:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000022.11:37152929:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000022.11:37152929:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000022.11:37152929:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000022.11:37152929:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000022.11:37152929:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000022.11:37152929:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000022.11:37152929:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000022.11:37152929:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000022.11:37152929:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000022.11:37152929:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000022.11:37152929:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:37152929:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:37152929:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:37152929:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:37152929:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:37152929:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:37152929:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:37152929:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:37152929:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:37152929:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:37152929:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:37152929:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:37152929:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:37152929:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:37152929:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:37152929:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:37152929:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:37152929:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- IL2RB (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000022.11:g.37152940_37152952del, NC_000022.11:g.37152941_37152952del, NC_000022.11:g.37152942_37152952del, NC_000022.11:g.37152943_37152952del, NC_000022.11:g.37152945_37152952del, NC_000022.11:g.37152946_37152952del, NC_000022.11:g.37152947_37152952del, NC_000022.11:g.37152948_37152952del, NC_000022.11:g.37152949_37152952del, NC_000022.11:g.37152950_37152952del, NC_000022.11:g.37152951_37152952del, NC_000022.11:g.37152952del, NC_000022.11:g.37152952dup, NC_000022.11:g.37152951_37152952dup, NC_000022.11:g.37152950_37152952dup, NC_000022.11:g.37152949_37152952dup, NC_000022.11:g.37152948_37152952dup, NC_000022.11:g.37152947_37152952dup, NC_000022.11:g.37152946_37152952dup, NC_000022.11:g.37152945_37152952dup, NC_000022.11:g.37152944_37152952dup, NC_000022.11:g.37152943_37152952dup, NC_000022.11:g.37152942_37152952dup, NC_000022.11:g.37152941_37152952dup, NC_000022.11:g.37152940_37152952dup, NC_000022.11:g.37152939_37152952dup, NC_000022.11:g.37152938_37152952dup, NC_000022.11:g.37152936_37152952dup, NC_000022.11:g.37152931_37152952dup, NC_000022.10:g.37548980_37548992del, NC_000022.10:g.37548981_37548992del, NC_000022.10:g.37548982_37548992del, NC_000022.10:g.37548983_37548992del, NC_000022.10:g.37548985_37548992del, NC_000022.10:g.37548986_37548992del, NC_000022.10:g.37548987_37548992del, NC_000022.10:g.37548988_37548992del, NC_000022.10:g.37548989_37548992del, NC_000022.10:g.37548990_37548992del, NC_000022.10:g.37548991_37548992del, NC_000022.10:g.37548992del, NC_000022.10:g.37548992dup, NC_000022.10:g.37548991_37548992dup, NC_000022.10:g.37548990_37548992dup, NC_000022.10:g.37548989_37548992dup, NC_000022.10:g.37548988_37548992dup, NC_000022.10:g.37548987_37548992dup, NC_000022.10:g.37548986_37548992dup, NC_000022.10:g.37548985_37548992dup, NC_000022.10:g.37548984_37548992dup, NC_000022.10:g.37548983_37548992dup, NC_000022.10:g.37548982_37548992dup, NC_000022.10:g.37548981_37548992dup, NC_000022.10:g.37548980_37548992dup, NC_000022.10:g.37548979_37548992dup, NC_000022.10:g.37548978_37548992dup, NC_000022.10:g.37548976_37548992dup, NC_000022.10:g.37548971_37548992dup
8.
rs1491012669 has merged into rs63579164 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAA>-,A,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 22:37172225
(GRCh38)
22:37568265
(GRCh37)
- Canonical SPDI:
- NC_000022.11:37172215:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000022.11:37172215:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000022.11:37172215:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000022.11:37172215:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000022.11:37172215:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000022.11:37172215:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000022.11:37172215:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000022.11:37172215:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000022.11:37172215:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000022.11:37172215:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000022.11:37172215:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:37172215:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:37172215:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:37172215:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:37172215:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:37172215:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:37172215:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:37172215:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:37172215:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- IL2RB (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAA=0./0
(
ALFA)
-=0.11761/589
(1000Genomes)
-=0.3/12
(GENOME_DK)
- HGVS:
NC_000022.11:g.37172225_37172234del, NC_000022.11:g.37172226_37172234del, NC_000022.11:g.37172228_37172234del, NC_000022.11:g.37172230_37172234del, NC_000022.11:g.37172231_37172234del, NC_000022.11:g.37172232_37172234del, NC_000022.11:g.37172233_37172234del, NC_000022.11:g.37172234del, NC_000022.11:g.37172234dup, NC_000022.11:g.37172233_37172234dup, NC_000022.11:g.37172232_37172234dup, NC_000022.11:g.37172231_37172234dup, NC_000022.11:g.37172230_37172234dup, NC_000022.11:g.37172229_37172234dup, NC_000022.11:g.37172228_37172234dup, NC_000022.11:g.37172227_37172234dup, NC_000022.11:g.37172226_37172234dup, NC_000022.11:g.37172224_37172234dup, NC_000022.11:g.37172219_37172234dup, NC_000022.10:g.37568265_37568274del, NC_000022.10:g.37568266_37568274del, NC_000022.10:g.37568268_37568274del, NC_000022.10:g.37568270_37568274del, NC_000022.10:g.37568271_37568274del, NC_000022.10:g.37568272_37568274del, NC_000022.10:g.37568273_37568274del, NC_000022.10:g.37568274del, NC_000022.10:g.37568274dup, NC_000022.10:g.37568273_37568274dup, NC_000022.10:g.37568272_37568274dup, NC_000022.10:g.37568271_37568274dup, NC_000022.10:g.37568270_37568274dup, NC_000022.10:g.37568269_37568274dup, NC_000022.10:g.37568268_37568274dup, NC_000022.10:g.37568267_37568274dup, NC_000022.10:g.37568266_37568274dup, NC_000022.10:g.37568264_37568274dup, NC_000022.10:g.37568259_37568274dup
9.
rs1490933319 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 22:37172666
(GRCh38)
22:37568706
(GRCh37)
- Canonical SPDI:
- NC_000022.11:37172665:T:C
- Gene:
- IL2RB (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
10.
rs1490913845 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 22:37157781
(GRCh38)
22:37553821
(GRCh37)
- Canonical SPDI:
- NC_000022.11:37157780:G:A
- Gene:
- IL2RB (Varview)
- Functional Consequence:
- intron_variant,genic_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:
11.
rs1490858444 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 22:37160147
(GRCh38)
22:37556187
(GRCh37)
- Canonical SPDI:
- NC_000022.11:37160146:C:A,NC_000022.11:37160146:C:T
- Gene:
- IL2RB (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
12.
rs1490803666 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 22:37151078
(GRCh38)
22:37547118
(GRCh37)
- Canonical SPDI:
- NC_000022.11:37151077:T:C
- Gene:
- IL2RB (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
13.
rs1490771666 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 22:37152136
(GRCh38)
22:37548176
(GRCh37)
- Canonical SPDI:
- NC_000022.11:37152135:T:A,NC_000022.11:37152135:T:C
- Gene:
- IL2RB (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
14.
rs1490677932 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 22:37136468
(GRCh38)
22:37532508
(GRCh37)
- Canonical SPDI:
- NC_000022.11:37136467:C:A,NC_000022.11:37136467:C:G
- Gene:
- IL2RB (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
A=0./0
(Korea1K)
A=0.000008/2
(TOPMED)
A=0.000023/3
(GnomAD)
- HGVS:
15.
rs1490661779 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 22:37130634
(GRCh38)
22:37526674
(GRCh37)
- Canonical SPDI:
- NC_000022.11:37130633:A:T
- Gene:
- IL2RB (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
16.
rs1490580402 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 22:37166067
(GRCh38)
22:37562107
(GRCh37)
- Canonical SPDI:
- NC_000022.11:37166066:A:G
- Gene:
- IL2RB (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
17.
rs1490487810 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 22:37159850
(GRCh38)
22:37555890
(GRCh37)
- Canonical SPDI:
- NC_000022.11:37159849:G:
- Gene:
- IL2RB (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
18.
rs1490405038 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 22:37142632
(GRCh38)
22:37538672
(GRCh37)
- Canonical SPDI:
- NC_000022.11:37142631:C:A,NC_000022.11:37142631:C:T
- Gene:
- IL2RB (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
T=0.000006/1
(GnomAD_exomes)
A=0.000007/1
(GnomAD)
- HGVS:
19.
rs1490372619 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 22:37163249
(GRCh38)
22:37559289
(GRCh37)
- Canonical SPDI:
- NC_000022.11:37163248:G:A
- Gene:
- IL2RB (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000054/1
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
A=0.000223/1
(Estonian)
- HGVS:
20.
rs1490338257 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 22:37151489
(GRCh38)
22:37547529
(GRCh37)
- Canonical SPDI:
- NC_000022.11:37151488:A:T
- Gene:
- IL2RB (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS: