Links from Gene
Items: 1 to 20 of 1000
2.
rs1491558695 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 3:14981625
(GRCh38)
3:15023132
(GRCh37)
- Canonical SPDI:
- NC_000003.12:14981622:AGAG:AG
- Gene:
- NR2C2 (Varview)
- Functional Consequence:
- intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGAG=0.001354/22
(
ALFA)
-=0.001664/231
(GnomAD)
- HGVS:
3.
rs1491528247 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GGATAGAT
[Show Flanks]
- Chromosome:
- 3:15029831
(GRCh38)
3:15071339
(GRCh37)
- Canonical SPDI:
- NC_000003.12:15029831:GATAGAT:GATAGATGGATAGAT
- Gene:
- NR2C2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GATAGATGGATAGAT=0./0
(
ALFA)
GATAGATG=0.000009/1
(GnomAD)
- HGVS:
4.
rs1491519915 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 3:15001318
(GRCh38)
3:15042825
(GRCh37)
- Canonical SPDI:
- NC_000003.12:15001317:GT:
- Gene:
- NR2C2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000109/13
(GnomAD)
- HGVS:
7.
rs1491480235 has merged into rs58524753 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 3:15033653
(GRCh38)
3:15075160
(GRCh37)
- Canonical SPDI:
- NC_000003.12:15033639:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:15033639:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:15033639:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:15033639:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:15033639:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:15033639:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:15033639:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:15033639:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:15033639:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:15033639:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:15033639:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:15033639:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:15033639:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:15033639:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:15033639:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:15033639:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:15033639:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:15033639:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:15033639:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:15033639:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:15033639:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:15033639:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- NR2C2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.000015/4
(TOPMED)
- HGVS:
NC_000003.12:g.15033653_15033664del, NC_000003.12:g.15033654_15033664del, NC_000003.12:g.15033655_15033664del, NC_000003.12:g.15033656_15033664del, NC_000003.12:g.15033657_15033664del, NC_000003.12:g.15033658_15033664del, NC_000003.12:g.15033659_15033664del, NC_000003.12:g.15033660_15033664del, NC_000003.12:g.15033661_15033664del, NC_000003.12:g.15033662_15033664del, NC_000003.12:g.15033663_15033664del, NC_000003.12:g.15033664del, NC_000003.12:g.15033664dup, NC_000003.12:g.15033663_15033664dup, NC_000003.12:g.15033662_15033664dup, NC_000003.12:g.15033661_15033664dup, NC_000003.12:g.15033660_15033664dup, NC_000003.12:g.15033659_15033664dup, NC_000003.12:g.15033658_15033664dup, NC_000003.12:g.15033656_15033664dup, NC_000003.12:g.15033641_15033664dup, NC_000003.12:g.15033664_15033665insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.15075160_15075171del, NC_000003.11:g.15075161_15075171del, NC_000003.11:g.15075162_15075171del, NC_000003.11:g.15075163_15075171del, NC_000003.11:g.15075164_15075171del, NC_000003.11:g.15075165_15075171del, NC_000003.11:g.15075166_15075171del, NC_000003.11:g.15075167_15075171del, NC_000003.11:g.15075168_15075171del, NC_000003.11:g.15075169_15075171del, NC_000003.11:g.15075170_15075171del, NC_000003.11:g.15075171del, NC_000003.11:g.15075171dup, NC_000003.11:g.15075170_15075171dup, NC_000003.11:g.15075169_15075171dup, NC_000003.11:g.15075168_15075171dup, NC_000003.11:g.15075167_15075171dup, NC_000003.11:g.15075166_15075171dup, NC_000003.11:g.15075165_15075171dup, NC_000003.11:g.15075163_15075171dup, NC_000003.11:g.15075148_15075171dup, NC_000003.11:g.15075171_15075172insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
8.
rs1491441672 has merged into rs61017075 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTT>-,T,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTGGGTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 3:15001328
(GRCh38)
3:15042835
(GRCh37)
- Canonical SPDI:
- NC_000003.12:15001318:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000003.12:15001318:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:15001318:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:15001318:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:15001318:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:15001318:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:15001318:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:15001318:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:15001318:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:15001318:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:15001318:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:15001318:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:15001318:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:15001318:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTGGGTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:15001318:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:15001318:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:15001318:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:15001318:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:15001318:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:15001318:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:15001318:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:15001318:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:15001318:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:15001318:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:15001318:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:15001318:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:15001318:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:15001318:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:15001318:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:15001318:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:15001318:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:15001318:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:15001318:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:15001318:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:15001318:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- NR2C2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTT=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
NC_000003.12:g.15001328_15001338del, NC_000003.12:g.15001329_15001338del, NC_000003.12:g.15001333_15001338del, NC_000003.12:g.15001334_15001338del, NC_000003.12:g.15001335_15001338del, NC_000003.12:g.15001336_15001338del, NC_000003.12:g.15001337_15001338del, NC_000003.12:g.15001338del, NC_000003.12:g.15001338dup, NC_000003.12:g.15001319_15001338T[21]GTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.15001319_15001338T[21]GTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.15001319_15001338T[21]GTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.15001337_15001338dup, NC_000003.12:g.15001319_15001338T[22]GGGTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.15001319_15001338T[22]GTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.15001319_15001338T[22]GTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.15001319_15001338T[22]GTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.15001336_15001338dup, NC_000003.12:g.15001319_15001338T[23]GTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.15001319_15001338T[23]GTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.15001335_15001338dup, NC_000003.12:g.15001319_15001338T[25]GTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.15001332_15001338dup, NC_000003.12:g.15001330_15001338dup, NC_000003.12:g.15001328_15001338dup, NC_000003.12:g.15001327_15001338dup, NC_000003.12:g.15001326_15001338dup, NC_000003.12:g.15001325_15001338dup, NC_000003.12:g.15001324_15001338dup, NC_000003.12:g.15001323_15001338dup, NC_000003.12:g.15001322_15001338dup, NC_000003.12:g.15001319_15001338T[39]ATTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.15001338_15001339insTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.15001338_15001339insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.15001338_15001339insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.15042835_15042845del, NC_000003.11:g.15042836_15042845del, NC_000003.11:g.15042840_15042845del, NC_000003.11:g.15042841_15042845del, NC_000003.11:g.15042842_15042845del, NC_000003.11:g.15042843_15042845del, NC_000003.11:g.15042844_15042845del, NC_000003.11:g.15042845del, NC_000003.11:g.15042845dup, NC_000003.11:g.15042826_15042845T[21]GTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.15042826_15042845T[21]GTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.15042826_15042845T[21]GTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.15042844_15042845dup, NC_000003.11:g.15042826_15042845T[22]GGGTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.15042826_15042845T[22]GTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.15042826_15042845T[22]GTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.15042826_15042845T[22]GTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.15042843_15042845dup, NC_000003.11:g.15042826_15042845T[23]GTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.15042826_15042845T[23]GTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.15042842_15042845dup, NC_000003.11:g.15042826_15042845T[25]GTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.15042839_15042845dup, NC_000003.11:g.15042837_15042845dup, NC_000003.11:g.15042835_15042845dup, NC_000003.11:g.15042834_15042845dup, NC_000003.11:g.15042833_15042845dup, NC_000003.11:g.15042832_15042845dup, NC_000003.11:g.15042831_15042845dup, NC_000003.11:g.15042830_15042845dup, NC_000003.11:g.15042829_15042845dup, NC_000003.11:g.15042826_15042845T[39]ATTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.15042845_15042846insTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.15042845_15042846insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.15042845_15042846insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
9.
rs1491367874 has merged into rs60214973 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 3:15000829
(GRCh38)
3:15042336
(GRCh37)
- Canonical SPDI:
- NC_000003.12:15000814:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:15000814:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:15000814:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:15000814:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:15000814:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:15000814:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:15000814:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:15000814:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:15000814:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:15000814:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:15000814:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- NR2C2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
NC_000003.12:g.15000829_15000834del, NC_000003.12:g.15000830_15000834del, NC_000003.12:g.15000831_15000834del, NC_000003.12:g.15000832_15000834del, NC_000003.12:g.15000833_15000834del, NC_000003.12:g.15000834del, NC_000003.12:g.15000834dup, NC_000003.12:g.15000833_15000834dup, NC_000003.12:g.15000832_15000834dup, NC_000003.12:g.15000831_15000834dup, NC_000003.12:g.15000830_15000834dup, NC_000003.11:g.15042336_15042341del, NC_000003.11:g.15042337_15042341del, NC_000003.11:g.15042338_15042341del, NC_000003.11:g.15042339_15042341del, NC_000003.11:g.15042340_15042341del, NC_000003.11:g.15042341del, NC_000003.11:g.15042341dup, NC_000003.11:g.15042340_15042341dup, NC_000003.11:g.15042339_15042341dup, NC_000003.11:g.15042338_15042341dup, NC_000003.11:g.15042337_15042341dup
10.
rs1491344192 has merged into rs35768154 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 3:15003126
(GRCh38)
3:15044633
(GRCh37)
- Canonical SPDI:
- NC_000003.12:15003112:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:15003112:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:15003112:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:15003112:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:15003112:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:15003112:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:15003112:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:15003112:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- NR2C2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.222644/1115
(1000Genomes)
-=0.375/3
(KOREAN)
- HGVS:
NC_000003.12:g.15003126_15003129del, NC_000003.12:g.15003127_15003129del, NC_000003.12:g.15003128_15003129del, NC_000003.12:g.15003129del, NC_000003.12:g.15003129dup, NC_000003.12:g.15003128_15003129dup, NC_000003.12:g.15003126_15003129dup, NC_000003.12:g.15003120_15003129dup, NC_000003.11:g.15044633_15044636del, NC_000003.11:g.15044634_15044636del, NC_000003.11:g.15044635_15044636del, NC_000003.11:g.15044636del, NC_000003.11:g.15044636dup, NC_000003.11:g.15044635_15044636dup, NC_000003.11:g.15044633_15044636dup, NC_000003.11:g.15044627_15044636dup
11.
rs1491319139 has merged into rs927608192 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,A,AA,AAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 3:14981611
(GRCh38)
3:15023118
(GRCh37)
- Canonical SPDI:
- NC_000003.12:14981602:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000003.12:14981602:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000003.12:14981602:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:14981602:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:14981602:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:14981602:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:14981602:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:14981602:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:14981602:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:14981602:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:14981602:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:14981602:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:14981602:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:14981602:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:14981602:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:14981602:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- NR2C2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAA=0./0
(
ALFA)
AA=0.02372/13
(NorthernSweden)
- HGVS:
NC_000003.12:g.14981611_14981623del, NC_000003.12:g.14981612_14981623del, NC_000003.12:g.14981613_14981623del, NC_000003.12:g.14981614_14981623del, NC_000003.12:g.14981617_14981623del, NC_000003.12:g.14981618_14981623del, NC_000003.12:g.14981619_14981623del, NC_000003.12:g.14981620_14981623del, NC_000003.12:g.14981621_14981623del, NC_000003.12:g.14981622_14981623del, NC_000003.12:g.14981623del, NC_000003.12:g.14981623dup, NC_000003.12:g.14981622_14981623dup, NC_000003.12:g.14981621_14981623dup, NC_000003.12:g.14981620_14981623dup, NC_000003.12:g.14981619_14981623dup, NC_000003.11:g.15023118_15023130del, NC_000003.11:g.15023119_15023130del, NC_000003.11:g.15023120_15023130del, NC_000003.11:g.15023121_15023130del, NC_000003.11:g.15023124_15023130del, NC_000003.11:g.15023125_15023130del, NC_000003.11:g.15023126_15023130del, NC_000003.11:g.15023127_15023130del, NC_000003.11:g.15023128_15023130del, NC_000003.11:g.15023129_15023130del, NC_000003.11:g.15023130del, NC_000003.11:g.15023130dup, NC_000003.11:g.15023129_15023130dup, NC_000003.11:g.15023128_15023130dup, NC_000003.11:g.15023127_15023130dup, NC_000003.11:g.15023126_15023130dup, XM_047448833.1:c.-9072_-9060del, XM_047448833.1:c.-9071_-9060del, XM_047448833.1:c.-9070_-9060del, XM_047448833.1:c.-9069_-9060del, XM_047448833.1:c.-9066_-9060del, XM_047448833.1:c.-9065_-9060del, XM_047448833.1:c.-9064_-9060del, XM_047448833.1:c.-9063_-9060del, XM_047448833.1:c.-9062_-9060del, XM_047448833.1:c.-9061_-9060del, XM_047448833.1:c.-9060del, XM_047448833.1:c.-9060dup, XM_047448833.1:c.-9061_-9060dup, XM_047448833.1:c.-9062_-9060dup, XM_047448833.1:c.-9063_-9060dup, XM_047448833.1:c.-9064_-9060dup
12.
rs1491313660 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 3:15000814
(GRCh38)
3:15042321
(GRCh37)
- Canonical SPDI:
- NC_000003.12:15000813:GT:
- Gene:
- NR2C2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
13.
rs1491251122 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 3:15040178
(GRCh38)
3:15081685
(GRCh37)
- Canonical SPDI:
- NC_000003.12:15040176:ACA:A
- Gene:
- NR2C2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
-=0.000072/10
(GnomAD)
- HGVS:
14.
rs1491248456 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A,G
[Show Flanks]
- Chromosome:
- 3:15000815
(GRCh38)
3:15042323
(GRCh37)
- Canonical SPDI:
- NC_000003.12:15000815::A,NC_000003.12:15000815::G
- Gene:
- NR2C2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.00015/8
(GnomAD)
- HGVS:
15.
rs1491248332 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 3:14980803
(GRCh38)
3:15022310
(GRCh37)
- Canonical SPDI:
- NC_000003.12:14980801:ATA:A
- Gene:
- NR2C2 (Varview)
- Functional Consequence:
- intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000011/3
(TOPMED)
- HGVS:
16.
rs1491248040 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->TTTTT,TTTTTT
[Show Flanks]
- Chromosome:
- 3:14976601
(GRCh38)
3:15018109
(GRCh37)
- Canonical SPDI:
- NC_000003.12:14976601::TTTTT,NC_000003.12:14976601::TTTTTT
- Gene:
- NR2C2 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
TTTTT=0./0
(
ALFA)
TTTTTT=0.00001/1
(GnomAD)
- HGVS:
17.
rs1491201940 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CC>-
[Show Flanks]
- Chromosome:
- 3:14976601
(GRCh38)
3:15018108
(GRCh37)
- Canonical SPDI:
- NC_000003.12:14976600:CC:
- Gene:
- NR2C2 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000023/3
(GnomAD)
- HGVS:
18.
rs1491200895 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 3:15040177
(GRCh38)
3:15081685
(GRCh37)
- Canonical SPDI:
- NC_000003.12:15040177:C:CC
- Gene:
- NR2C2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CC=0./0
(
ALFA)
C=0.000022/3
(GnomAD)
- HGVS:
19.
rs1491118068 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 3:15033639
(GRCh38)
3:15075146
(GRCh37)
- Canonical SPDI:
- NC_000003.12:15033638:CT:
- Gene:
- NR2C2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000018/2
(GnomAD)
- HGVS:
20.
rs1491100153 has merged into rs34788861 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACACACACACACACACACACACA>-,CACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACA
[Show Flanks]
- Chromosome:
- 3:14983472
(GRCh38)
3:15024979
(GRCh37)
- Canonical SPDI:
- NC_000003.12:14983462:ACACACACACACACACACACACACACACACACA:ACACACACA,NC_000003.12:14983462:ACACACACACACACACACACACACACACACACA:ACACACACACACA,NC_000003.12:14983462:ACACACACACACACACACACACACACACACACA:ACACACACACACACACA,NC_000003.12:14983462:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000003.12:14983462:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000003.12:14983462:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000003.12:14983462:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000003.12:14983462:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000003.12:14983462:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000003.12:14983462:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000003.12:14983462:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000003.12:14983462:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000003.12:14983462:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000003.12:14983462:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:14983462:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:14983462:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:14983462:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:14983462:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:14983462:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:14983462:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
- Gene:
- NR2C2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACA=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
NC_000003.12:g.14983464CA[4], NC_000003.12:g.14983464CA[6], NC_000003.12:g.14983464CA[8], NC_000003.12:g.14983464CA[9], NC_000003.12:g.14983464CA[10], NC_000003.12:g.14983464CA[11], NC_000003.12:g.14983464CA[12], NC_000003.12:g.14983464CA[13], NC_000003.12:g.14983464CA[14], NC_000003.12:g.14983464CA[15], NC_000003.12:g.14983464CA[17], NC_000003.12:g.14983464CA[18], NC_000003.12:g.14983464CA[19], NC_000003.12:g.14983464CA[20], NC_000003.12:g.14983464CA[21], NC_000003.12:g.14983464CA[22], NC_000003.12:g.14983464CA[23], NC_000003.12:g.14983464CA[24], NC_000003.12:g.14983464CA[25], NC_000003.12:g.14983464CA[28], NC_000003.11:g.15024971CA[4], NC_000003.11:g.15024971CA[6], NC_000003.11:g.15024971CA[8], NC_000003.11:g.15024971CA[9], NC_000003.11:g.15024971CA[10], NC_000003.11:g.15024971CA[11], NC_000003.11:g.15024971CA[12], NC_000003.11:g.15024971CA[13], NC_000003.11:g.15024971CA[14], NC_000003.11:g.15024971CA[15], NC_000003.11:g.15024971CA[17], NC_000003.11:g.15024971CA[18], NC_000003.11:g.15024971CA[19], NC_000003.11:g.15024971CA[20], NC_000003.11:g.15024971CA[21], NC_000003.11:g.15024971CA[22], NC_000003.11:g.15024971CA[23], NC_000003.11:g.15024971CA[24], NC_000003.11:g.15024971CA[25], NC_000003.11:g.15024971CA[28], XM_047448833.1:c.-7219CA[4], XM_047448833.1:c.-7219CA[6], XM_047448833.1:c.-7219CA[8], XM_047448833.1:c.-7219CA[9], XM_047448833.1:c.-7219CA[10], XM_047448833.1:c.-7219CA[11], XM_047448833.1:c.-7219CA[12], XM_047448833.1:c.-7219CA[13], XM_047448833.1:c.-7219CA[14], XM_047448833.1:c.-7219CA[15], XM_047448833.1:c.-7219CA[17], XM_047448833.1:c.-7219CA[18], XM_047448833.1:c.-7219CA[19], XM_047448833.1:c.-7219CA[20], XM_047448833.1:c.-7219CA[21], XM_047448833.1:c.-7219CA[22], XM_047448833.1:c.-7219CA[23], XM_047448833.1:c.-7219CA[24], XM_047448833.1:c.-7219CA[25], XM_047448833.1:c.-7219CA[28]