Links from Gene
Items: 1 to 20 of 49733
1.
rs1491554193 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AT
[Show Flanks]
- Chromosome:
- 21:10044280
(GRCh38)
21:10522309
(GRCh37)
- Canonical SPDI:
- NC_000021.9:10044280:T:TAT
- Gene:
- LOC105372733 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TAT=0./0
(
ALFA)
TA=0.00322/51
(TOMMO)
TA=0.01421/22
(Korea1K)
TA=0.02622/784
(GnomAD)
- HGVS:
2.
rs1491549268 has merged into rs765960235 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 21:9997473
(GRCh38)
21:10475501
(GRCh37)
- Canonical SPDI:
- NC_000021.9:9997461:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000021.9:9997461:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000021.9:9997461:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000021.9:9997461:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000021.9:9997461:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000021.9:9997461:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000021.9:9997461:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000021.9:9997461:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000021.9:9997461:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000021.9:9997461:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000021.9:9997461:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:9997461:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:9997461:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:9997461:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:9997461:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:9997461:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:9997461:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:9997461:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:9997461:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:9997461:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:9997461:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:9997461:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:9997461:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:9997461:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:9997461:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:9997461:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:9997461:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:9997461:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:9997461:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:9997461:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:9997461:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:9997461:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:9997461:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:9997461:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:9997461:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:9997461:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:9997461:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:9997461:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:9997461:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:9997461:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:9997461:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LOC105372733 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0./0
(
ALFA)
-=0.3/12
(GENOME_DK)
- HGVS:
NC_000021.9:g.9997473_9997486del, NC_000021.9:g.9997475_9997486del, NC_000021.9:g.9997476_9997486del, NC_000021.9:g.9997477_9997486del, NC_000021.9:g.9997478_9997486del, NC_000021.9:g.9997479_9997486del, NC_000021.9:g.9997480_9997486del, NC_000021.9:g.9997481_9997486del, NC_000021.9:g.9997482_9997486del, NC_000021.9:g.9997483_9997486del, NC_000021.9:g.9997484_9997486del, NC_000021.9:g.9997485_9997486del, NC_000021.9:g.9997486del, NC_000021.9:g.9997486dup, NC_000021.9:g.9997485_9997486dup, NC_000021.9:g.9997484_9997486dup, NC_000021.9:g.9997483_9997486dup, NC_000021.9:g.9997482_9997486dup, NC_000021.9:g.9997481_9997486dup, NC_000021.9:g.9997480_9997486dup, NC_000021.9:g.9997479_9997486dup, NC_000021.9:g.9997478_9997486dup, NC_000021.9:g.9997477_9997486dup, NC_000021.9:g.9997476_9997486dup, NC_000021.9:g.9997475_9997486dup, NC_000021.9:g.9997474_9997486dup, NC_000021.9:g.9997473_9997486dup, NC_000021.9:g.9997472_9997486dup, NC_000021.9:g.9997471_9997486dup, NC_000021.9:g.9997470_9997486dup, NC_000021.9:g.9997469_9997486dup, NC_000021.9:g.9997468_9997486dup, NC_000021.9:g.9997467_9997486dup, NC_000021.9:g.9997466_9997486dup, NC_000021.9:g.9997465_9997486dup, NC_000021.9:g.9997464_9997486dup, NC_000021.9:g.9997463_9997486dup, NC_000021.9:g.9997462_9997486dup, NC_000021.9:g.9997486_9997487insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.9:g.9997486_9997487insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.9:g.9997486_9997487insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.8:g.10475501_10475514del, NC_000021.8:g.10475503_10475514del, NC_000021.8:g.10475504_10475514del, NC_000021.8:g.10475505_10475514del, NC_000021.8:g.10475506_10475514del, NC_000021.8:g.10475507_10475514del, NC_000021.8:g.10475508_10475514del, NC_000021.8:g.10475509_10475514del, NC_000021.8:g.10475510_10475514del, NC_000021.8:g.10475511_10475514del, NC_000021.8:g.10475512_10475514del, NC_000021.8:g.10475513_10475514del, NC_000021.8:g.10475514del, NC_000021.8:g.10475514dup, NC_000021.8:g.10475513_10475514dup, NC_000021.8:g.10475512_10475514dup, NC_000021.8:g.10475511_10475514dup, NC_000021.8:g.10475510_10475514dup, NC_000021.8:g.10475509_10475514dup, NC_000021.8:g.10475508_10475514dup, NC_000021.8:g.10475507_10475514dup, NC_000021.8:g.10475506_10475514dup, NC_000021.8:g.10475505_10475514dup, NC_000021.8:g.10475504_10475514dup, NC_000021.8:g.10475503_10475514dup, NC_000021.8:g.10475502_10475514dup, NC_000021.8:g.10475501_10475514dup, NC_000021.8:g.10475500_10475514dup, NC_000021.8:g.10475499_10475514dup, NC_000021.8:g.10475498_10475514dup, NC_000021.8:g.10475497_10475514dup, NC_000021.8:g.10475496_10475514dup, NC_000021.8:g.10475495_10475514dup, NC_000021.8:g.10475494_10475514dup, NC_000021.8:g.10475493_10475514dup, NC_000021.8:g.10475492_10475514dup, NC_000021.8:g.10475491_10475514dup, NC_000021.8:g.10475490_10475514dup, NC_000021.8:g.10475514_10475515insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.8:g.10475514_10475515insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.8:g.10475514_10475515insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
3.
rs1491500025 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 21:10044278
(GRCh38)
21:10522307
(GRCh37)
- Canonical SPDI:
- NC_000021.9:10044278:A:AA
- Gene:
- LOC105372733 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.00002/1
(GnomAD)
- HGVS:
4.
rs1491495964 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 21:10098785
(GRCh38)
21:10576814
(GRCh37)
- Canonical SPDI:
- NC_000021.9:10098785::C
- Gene:
- LOC105372733 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by cluster
- MAF:
C=0.00062/22
(GnomAD)
- HGVS:
5.
rs1491482408 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 21:10018193
(GRCh38)
21:10496222
(GRCh37)
- Canonical SPDI:
- NC_000021.9:10018193:G:GG
- Gene:
- LOC105372733 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GG=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
- HGVS:
6.
rs1491479064 has merged into rs577689844 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-,ATAT
[Show Flanks]
- Chromosome:
- 21:10073026
(GRCh38)
21:10551054
(GRCh37)
- Canonical SPDI:
- NC_000021.9:10073017:ATATATATAT:ATATATAT,NC_000021.9:10073017:ATATATATAT:ATATATATATAT
- Gene:
- LOC105372733 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATATATAT=0./0
(
ALFA)
-=0./0
(GnomAD)
-=0.000026/7
(TOPMED)
AT=0.001597/8
(1000Genomes)
- HGVS:
7.
rs1491469979 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 21:10064133
(GRCh38)
21:10542161
(GRCh37)
- Canonical SPDI:
- NC_000021.9:10064130:TTTT:TT
- Gene:
- LOC105372733 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TTTT=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
8.
rs1491454374 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->AATATATAT
[Show Flanks]
- Chromosome:
- 21:10073018
(GRCh38)
21:10551047
(GRCh37)
- Canonical SPDI:
- NC_000021.9:10073018::AATATATAT
- Gene:
- LOC105372733 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AATATATAT=0.0002/1
(
ALFA)
- HGVS:
9.
rs1491451850 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A,AC,ATA,ATATA,ATATATA,ATATATATA,ATATATATATA,ATATATATATATA,ATATATATATATATA,ATATATATATTTG
[Show Flanks]
- Chromosome:
- 21:10009899
(GRCh38)
21:10487928
(GRCh37)
- Canonical SPDI:
- NC_000021.9:10009899::A,NC_000021.9:10009899::AC,NC_000021.9:10009899::ATA,NC_000021.9:10009899::ATATA,NC_000021.9:10009899::ATATATA,NC_000021.9:10009899::ATATATATA,NC_000021.9:10009899::ATATATATATA,NC_000021.9:10009899::ATATATATATATA,NC_000021.9:10009899::ATATATATATATATA,NC_000021.9:10009899::ATATATATATTTG
- Gene:
- LOC105372733 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000021.9:g.10009899_10009900insA, NC_000021.9:g.10009899_10009900insAC, NC_000021.9:g.10009899_10009900insATA, NC_000021.9:g.10009899_10009900insATATA, NC_000021.9:g.10009899_10009900insATATATA, NC_000021.9:g.10009899_10009900insATATATATA, NC_000021.9:g.10009899_10009900insATATATATATA, NC_000021.9:g.10009899_10009900insATATATATATATA, NC_000021.9:g.10009899_10009900insATATATATATATATA, NC_000021.9:g.10009899_10009900insATATATATATTTG, NC_000021.8:g.10487927_10487928insA, NC_000021.8:g.10487927_10487928insAC, NC_000021.8:g.10487927_10487928insATA, NC_000021.8:g.10487927_10487928insATATA, NC_000021.8:g.10487927_10487928insATATATA, NC_000021.8:g.10487927_10487928insATATATATA, NC_000021.8:g.10487927_10487928insATATATATATA, NC_000021.8:g.10487927_10487928insATATATATATATA, NC_000021.8:g.10487927_10487928insATATATATATATATA, NC_000021.8:g.10487927_10487928insATATATATATTTG
10.
rs1491430711 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 21:10018194
(GRCh38)
21:10496222
(GRCh37)
- Canonical SPDI:
- NC_000021.9:10018192:AGA:A
- Gene:
- LOC105372733 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
-=0.000029/4
(GnomAD)
- HGVS:
13.
rs1491349801 has merged into rs1159590636 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 21:10009913
(GRCh38)
21:10487941
(GRCh37)
- Canonical SPDI:
- NC_000021.9:10009898:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000021.9:10009898:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000021.9:10009898:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000021.9:10009898:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000021.9:10009898:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000021.9:10009898:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000021.9:10009898:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000021.9:10009898:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000021.9:10009898:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:10009898:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:10009898:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:10009898:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:10009898:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:10009898:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:10009898:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:10009898:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:10009898:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:10009898:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:10009898:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:10009898:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:10009898:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:10009898:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:10009898:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:10009898:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:10009898:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:10009898:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:10009898:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:10009898:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:10009898:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:10009898:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:10009898:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:10009898:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:10009898:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:10009898:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LOC105372733 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000021.9:g.10009913_10009928del, NC_000021.9:g.10009914_10009928del, NC_000021.9:g.10009915_10009928del, NC_000021.9:g.10009916_10009928del, NC_000021.9:g.10009917_10009928del, NC_000021.9:g.10009918_10009928del, NC_000021.9:g.10009919_10009928del, NC_000021.9:g.10009920_10009928del, NC_000021.9:g.10009921_10009928del, NC_000021.9:g.10009922_10009928del, NC_000021.9:g.10009923_10009928del, NC_000021.9:g.10009924_10009928del, NC_000021.9:g.10009925_10009928del, NC_000021.9:g.10009926_10009928del, NC_000021.9:g.10009927_10009928del, NC_000021.9:g.10009928del, NC_000021.9:g.10009928dup, NC_000021.9:g.10009927_10009928dup, NC_000021.9:g.10009926_10009928dup, NC_000021.9:g.10009924_10009928dup, NC_000021.9:g.10009923_10009928dup, NC_000021.9:g.10009922_10009928dup, NC_000021.9:g.10009921_10009928dup, NC_000021.9:g.10009920_10009928dup, NC_000021.9:g.10009919_10009928dup, NC_000021.9:g.10009918_10009928dup, NC_000021.9:g.10009917_10009928dup, NC_000021.9:g.10009916_10009928dup, NC_000021.9:g.10009915_10009928dup, NC_000021.9:g.10009914_10009928dup, NC_000021.9:g.10009913_10009928dup, NC_000021.9:g.10009912_10009928dup, NC_000021.9:g.10009909_10009928dup, NC_000021.9:g.10009908_10009928dup, NC_000021.8:g.10487941_10487956del, NC_000021.8:g.10487942_10487956del, NC_000021.8:g.10487943_10487956del, NC_000021.8:g.10487944_10487956del, NC_000021.8:g.10487945_10487956del, NC_000021.8:g.10487946_10487956del, NC_000021.8:g.10487947_10487956del, NC_000021.8:g.10487948_10487956del, NC_000021.8:g.10487949_10487956del, NC_000021.8:g.10487950_10487956del, NC_000021.8:g.10487951_10487956del, NC_000021.8:g.10487952_10487956del, NC_000021.8:g.10487953_10487956del, NC_000021.8:g.10487954_10487956del, NC_000021.8:g.10487955_10487956del, NC_000021.8:g.10487956del, NC_000021.8:g.10487956dup, NC_000021.8:g.10487955_10487956dup, NC_000021.8:g.10487954_10487956dup, NC_000021.8:g.10487952_10487956dup, NC_000021.8:g.10487951_10487956dup, NC_000021.8:g.10487950_10487956dup, NC_000021.8:g.10487949_10487956dup, NC_000021.8:g.10487948_10487956dup, NC_000021.8:g.10487947_10487956dup, NC_000021.8:g.10487946_10487956dup, NC_000021.8:g.10487945_10487956dup, NC_000021.8:g.10487944_10487956dup, NC_000021.8:g.10487943_10487956dup, NC_000021.8:g.10487942_10487956dup, NC_000021.8:g.10487941_10487956dup, NC_000021.8:g.10487940_10487956dup, NC_000021.8:g.10487937_10487956dup, NC_000021.8:g.10487936_10487956dup
16.
rs1491321320 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 21:10106362
(GRCh38)
21:10584390
(GRCh37)
- Canonical SPDI:
- NC_000021.9:10106361:CA:
- Gene:
- LOC105372733 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00354/42
(
ALFA)
-=0.0045/75
(TOMMO)
- HGVS:
17.
rs1491306310 has merged into rs71275512 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAAAAAAAA>-,AA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 21:10106364
(GRCh38)
21:10584392
(GRCh37)
- Canonical SPDI:
- NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:A,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:10106362:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LOC105372733 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000021.9:g.10106364_10106386del, NC_000021.9:g.10106366_10106386del, NC_000021.9:g.10106370_10106386del, NC_000021.9:g.10106372_10106386del, NC_000021.9:g.10106373_10106386del, NC_000021.9:g.10106374_10106386del, NC_000021.9:g.10106375_10106386del, NC_000021.9:g.10106376_10106386del, NC_000021.9:g.10106378_10106386del, NC_000021.9:g.10106379_10106386del, NC_000021.9:g.10106380_10106386del, NC_000021.9:g.10106381_10106386del, NC_000021.9:g.10106383_10106386del, NC_000021.9:g.10106384_10106386del, NC_000021.9:g.10106385_10106386del, NC_000021.9:g.10106386del, NC_000021.9:g.10106386dup, NC_000021.9:g.10106385_10106386dup, NC_000021.9:g.10106384_10106386dup, NC_000021.9:g.10106383_10106386dup, NC_000021.9:g.10106382_10106386dup, NC_000021.9:g.10106381_10106386dup, NC_000021.9:g.10106380_10106386dup, NC_000021.9:g.10106379_10106386dup, NC_000021.9:g.10106378_10106386dup, NC_000021.9:g.10106377_10106386dup, NC_000021.9:g.10106376_10106386dup, NC_000021.9:g.10106375_10106386dup, NC_000021.9:g.10106374_10106386dup, NC_000021.9:g.10106373_10106386dup, NC_000021.9:g.10106372_10106386dup, NC_000021.9:g.10106371_10106386dup, NC_000021.9:g.10106370_10106386dup, NC_000021.9:g.10106369_10106386dup, NC_000021.9:g.10106368_10106386dup, NC_000021.9:g.10106367_10106386dup, NC_000021.9:g.10106366_10106386dup, NC_000021.9:g.10106364_10106386dup, NC_000021.9:g.10106386_10106387insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.9:g.10106386_10106387insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.9:g.10106386_10106387insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.9:g.10106386_10106387insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.9:g.10106386_10106387insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.9:g.10106386_10106387insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.9:g.10106386_10106387insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.9:g.10106386_10106387insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.9:g.10106386_10106387insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.9:g.10106386_10106387insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.9:g.10106386_10106387insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.9:g.10106386_10106387insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.8:g.10584392_10584414del, NC_000021.8:g.10584394_10584414del, NC_000021.8:g.10584398_10584414del, NC_000021.8:g.10584400_10584414del, NC_000021.8:g.10584401_10584414del, NC_000021.8:g.10584402_10584414del, NC_000021.8:g.10584403_10584414del, NC_000021.8:g.10584404_10584414del, NC_000021.8:g.10584406_10584414del, NC_000021.8:g.10584407_10584414del, NC_000021.8:g.10584408_10584414del, NC_000021.8:g.10584409_10584414del, NC_000021.8:g.10584411_10584414del, NC_000021.8:g.10584412_10584414del, NC_000021.8:g.10584413_10584414del, NC_000021.8:g.10584414del, NC_000021.8:g.10584414dup, NC_000021.8:g.10584413_10584414dup, NC_000021.8:g.10584412_10584414dup, NC_000021.8:g.10584411_10584414dup, NC_000021.8:g.10584410_10584414dup, NC_000021.8:g.10584409_10584414dup, NC_000021.8:g.10584408_10584414dup, NC_000021.8:g.10584407_10584414dup, NC_000021.8:g.10584406_10584414dup, NC_000021.8:g.10584405_10584414dup, NC_000021.8:g.10584404_10584414dup, NC_000021.8:g.10584403_10584414dup, NC_000021.8:g.10584402_10584414dup, NC_000021.8:g.10584401_10584414dup, NC_000021.8:g.10584400_10584414dup, NC_000021.8:g.10584399_10584414dup, NC_000021.8:g.10584398_10584414dup, NC_000021.8:g.10584397_10584414dup, NC_000021.8:g.10584396_10584414dup, NC_000021.8:g.10584395_10584414dup, NC_000021.8:g.10584394_10584414dup, NC_000021.8:g.10584392_10584414dup, NC_000021.8:g.10584414_10584415insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.8:g.10584414_10584415insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.8:g.10584414_10584415insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.8:g.10584414_10584415insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.8:g.10584414_10584415insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.8:g.10584414_10584415insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.8:g.10584414_10584415insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.8:g.10584414_10584415insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.8:g.10584414_10584415insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.8:g.10584414_10584415insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.8:g.10584414_10584415insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000021.8:g.10584414_10584415insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
18.
rs1491290063 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 21:10006613
(GRCh38)
21:10484641
(GRCh37)
- Canonical SPDI:
- NC_000021.9:10006612:AT:
- Gene:
- LOC105372733 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.01189/141
(
ALFA)
-=0.01207/202
(TOMMO)
- HGVS:
20.
rs1491133333 has merged into rs1163296323 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT,TTTT,TTTTT,TTTTTT
[Show Flanks]
- Chromosome:
- 21:10044292
(GRCh38)
21:10522320
(GRCh37)
- Canonical SPDI:
- NC_000021.9:10044279:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000021.9:10044279:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000021.9:10044279:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000021.9:10044279:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000021.9:10044279:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000021.9:10044279:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
- Gene:
- LOC105372733 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000021.9:g.10044292_10044293del, NC_000021.9:g.10044293del, NC_000021.9:g.10044293dup, NC_000021.9:g.10044292_10044293dup, NC_000021.9:g.10044291_10044293dup, NC_000021.9:g.10044290_10044293dup, NC_000021.8:g.10522320_10522321del, NC_000021.8:g.10522321del, NC_000021.8:g.10522321dup, NC_000021.8:g.10522320_10522321dup, NC_000021.8:g.10522319_10522321dup, NC_000021.8:g.10522318_10522321dup