Links from Gene
Items: 1 to 20 of 1000
1.
rs1491573936 has merged into rs772889697 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-,GTGT
[Show Flanks]
- Chromosome:
- 4:41998472
(GRCh38)
4:42000489
(GRCh37)
- Canonical SPDI:
- NC_000004.12:41998470:TGT:T,NC_000004.12:41998470:TGT:TGTGT
- Gene:
- SLC30A9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.042131/688
(
ALFA)
-=0.025/1
(GENOME_DK)
-=0.038333/23
(NorthernSweden)
-=0.045753/293
(1000Genomes)
-=0.048414/6762
(GnomAD)
-=0.051309/13581
(TOPMED)
-=0.158306/587
(TWINSUK)
-=0.218993/844
(ALSPAC)
- HGVS:
2.
rs1491564348 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CTT
[Show Flanks]
- Chromosome:
- 4:42004665
(GRCh38)
4:42006683
(GRCh37)
- Canonical SPDI:
- NC_000004.12:42004665:TT:TTCTT
- Gene:
- SLC30A9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TTCTT=0./0
(
ALFA)
TTC=0.00092/2
(GnomAD)
- HGVS:
3.
rs1491562921 has merged into rs35993518 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAA>-,A,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 4:42058113
(GRCh38)
4:42060130
(GRCh37)
- Canonical SPDI:
- NC_000004.12:42058100:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:42058100:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:42058100:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:42058100:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:42058100:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:42058100:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:42058100:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:42058100:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:42058100:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:42058100:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:42058100:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:42058100:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- SLC30A9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
NC_000004.12:g.42058113_42058121del, NC_000004.12:g.42058114_42058121del, NC_000004.12:g.42058117_42058121del, NC_000004.12:g.42058118_42058121del, NC_000004.12:g.42058119_42058121del, NC_000004.12:g.42058120_42058121del, NC_000004.12:g.42058121del, NC_000004.12:g.42058121dup, NC_000004.12:g.42058120_42058121dup, NC_000004.12:g.42058119_42058121dup, NC_000004.12:g.42058117_42058121dup, NC_000004.12:g.42058112_42058121dup, NC_000004.11:g.42060130_42060138del, NC_000004.11:g.42060131_42060138del, NC_000004.11:g.42060134_42060138del, NC_000004.11:g.42060135_42060138del, NC_000004.11:g.42060136_42060138del, NC_000004.11:g.42060137_42060138del, NC_000004.11:g.42060138del, NC_000004.11:g.42060138dup, NC_000004.11:g.42060137_42060138dup, NC_000004.11:g.42060136_42060138dup, NC_000004.11:g.42060134_42060138dup, NC_000004.11:g.42060129_42060138dup
4.
rs1491550021 has merged into rs34964085 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA
[Show Flanks]
- Chromosome:
- 4:42045595
(GRCh38)
4:42047612
(GRCh37)
- Canonical SPDI:
- NC_000004.12:42045584:AAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000004.12:42045584:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:42045584:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:42045584:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:42045584:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:42045584:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:42045584:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:42045584:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
- Gene:
- SLC30A9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAA=0./0
(
ALFA)
AA=0.2715/158
(NorthernSweden)
AA=0.3093/1549
(1000Genomes)
AA=0.325/13
(GENOME_DK)
- HGVS:
NC_000004.12:g.42045595_42045600del, NC_000004.12:g.42045596_42045600del, NC_000004.12:g.42045597_42045600del, NC_000004.12:g.42045598_42045600del, NC_000004.12:g.42045599_42045600del, NC_000004.12:g.42045600del, NC_000004.12:g.42045600dup, NC_000004.12:g.42045599_42045600dup, NC_000004.11:g.42047612_42047617del, NC_000004.11:g.42047613_42047617del, NC_000004.11:g.42047614_42047617del, NC_000004.11:g.42047615_42047617del, NC_000004.11:g.42047616_42047617del, NC_000004.11:g.42047617del, NC_000004.11:g.42047617dup, NC_000004.11:g.42047616_42047617dup
5.
rs1491546890 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C,G
[Show Flanks]
- Chromosome:
- 4:42014556
(GRCh38)
4:42016574
(GRCh37)
- Canonical SPDI:
- NC_000004.12:42014556::C,NC_000004.12:42014556::G
- Gene:
- SLC30A9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
G=0.00003/1
(GnomAD)
- HGVS:
7.
rs1491510880 has merged into rs755795146 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA,AAAAAA,AAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 4:42040808
(GRCh38)
4:42042825
(GRCh37)
- Canonical SPDI:
- NC_000004.12:42040795:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:42040795:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:42040795:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:42040795:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:42040795:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:42040795:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- SLC30A9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.00022/3
(TOMMO)
- HGVS:
NC_000004.12:g.42040808_42040810del, NC_000004.12:g.42040809_42040810del, NC_000004.12:g.42040810del, NC_000004.12:g.42040810dup, NC_000004.12:g.42040808_42040810dup, NC_000004.12:g.42040810_42040811insAAAAAAAAAAAAAAAA, NC_000004.11:g.42042825_42042827del, NC_000004.11:g.42042826_42042827del, NC_000004.11:g.42042827del, NC_000004.11:g.42042827dup, NC_000004.11:g.42042825_42042827dup, NC_000004.11:g.42042827_42042828insAAAAAAAAAAAAAAAA
9.
rs1491359573 has merged into rs772889697 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-,GTGT
[Show Flanks]
- Chromosome:
- 4:41998472
(GRCh38)
4:42000489
(GRCh37)
- Canonical SPDI:
- NC_000004.12:41998470:TGT:T,NC_000004.12:41998470:TGT:TGTGT
- Gene:
- SLC30A9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.042131/688
(
ALFA)
-=0.025/1
(GENOME_DK)
-=0.038333/23
(NorthernSweden)
-=0.045753/293
(1000Genomes)
-=0.048414/6762
(GnomAD)
-=0.051309/13581
(TOPMED)
-=0.158306/587
(TWINSUK)
-=0.218993/844
(ALSPAC)
- HGVS:
11.
rs1491302048 has merged into rs1162707677 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTTTTTTTTTT>-,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 4:42075068
(GRCh38)
4:42077085
(GRCh37)
- Canonical SPDI:
- NC_000004.12:42075059:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000004.12:42075059:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:42075059:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:42075059:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:42075059:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:42075059:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:42075059:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:42075059:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:42075059:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:42075059:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:42075059:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:42075059:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:42075059:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:42075059:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:42075059:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:42075059:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:42075059:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:42075059:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:42075059:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:42075059:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:42075059:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:42075059:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:42075059:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- SLC30A9 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
NC_000004.12:g.42075068_42075091del, NC_000004.12:g.42075073_42075091del, NC_000004.12:g.42075074_42075091del, NC_000004.12:g.42075075_42075091del, NC_000004.12:g.42075077_42075091del, NC_000004.12:g.42075078_42075091del, NC_000004.12:g.42075079_42075091del, NC_000004.12:g.42075080_42075091del, NC_000004.12:g.42075081_42075091del, NC_000004.12:g.42075082_42075091del, NC_000004.12:g.42075083_42075091del, NC_000004.12:g.42075084_42075091del, NC_000004.12:g.42075085_42075091del, NC_000004.12:g.42075086_42075091del, NC_000004.12:g.42075087_42075091del, NC_000004.12:g.42075088_42075091del, NC_000004.12:g.42075089_42075091del, NC_000004.12:g.42075090_42075091del, NC_000004.12:g.42075091del, NC_000004.12:g.42075091dup, NC_000004.12:g.42075090_42075091dup, NC_000004.12:g.42075089_42075091dup, NC_000004.12:g.42075087_42075091dup, NC_000004.11:g.42077085_42077108del, NC_000004.11:g.42077090_42077108del, NC_000004.11:g.42077091_42077108del, NC_000004.11:g.42077092_42077108del, NC_000004.11:g.42077094_42077108del, NC_000004.11:g.42077095_42077108del, NC_000004.11:g.42077096_42077108del, NC_000004.11:g.42077097_42077108del, NC_000004.11:g.42077098_42077108del, NC_000004.11:g.42077099_42077108del, NC_000004.11:g.42077100_42077108del, NC_000004.11:g.42077101_42077108del, NC_000004.11:g.42077102_42077108del, NC_000004.11:g.42077103_42077108del, NC_000004.11:g.42077104_42077108del, NC_000004.11:g.42077105_42077108del, NC_000004.11:g.42077106_42077108del, NC_000004.11:g.42077107_42077108del, NC_000004.11:g.42077108del, NC_000004.11:g.42077108dup, NC_000004.11:g.42077107_42077108dup, NC_000004.11:g.42077106_42077108dup, NC_000004.11:g.42077104_42077108dup
13.
rs1491270211 has merged into rs56891419 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 4:42071687
(GRCh38)
4:42073704
(GRCh37)
- Canonical SPDI:
- NC_000004.12:42071675:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:42071675:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:42071675:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:42071675:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:42071675:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:42071675:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:42071675:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:42071675:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:42071675:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:42071675:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- SLC30A9 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
AA=0.3125/180
(NorthernSweden)
AA=0.3229/1617
(1000Genomes)
AA=0.325/13
(GENOME_DK)
- HGVS:
NC_000004.12:g.42071687_42071692del, NC_000004.12:g.42071688_42071692del, NC_000004.12:g.42071689_42071692del, NC_000004.12:g.42071690_42071692del, NC_000004.12:g.42071691_42071692del, NC_000004.12:g.42071692del, NC_000004.12:g.42071692dup, NC_000004.12:g.42071691_42071692dup, NC_000004.12:g.42071690_42071692dup, NC_000004.12:g.42071685_42071692dup, NC_000004.11:g.42073704_42073709del, NC_000004.11:g.42073705_42073709del, NC_000004.11:g.42073706_42073709del, NC_000004.11:g.42073707_42073709del, NC_000004.11:g.42073708_42073709del, NC_000004.11:g.42073709del, NC_000004.11:g.42073709dup, NC_000004.11:g.42073708_42073709dup, NC_000004.11:g.42073707_42073709dup, NC_000004.11:g.42073702_42073709dup
15.
rs1491214330 has merged into rs71198699 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTT>-,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 4:42004669
(GRCh38)
4:42006686
(GRCh37)
- Canonical SPDI:
- NC_000004.12:42004664:TTTTTTTTTTTTT:TTTT,NC_000004.12:42004664:TTTTTTTTTTTTT:TTTTTTTTT,NC_000004.12:42004664:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000004.12:42004664:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:42004664:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:42004664:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:42004664:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:42004664:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:42004664:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:42004664:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:42004664:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:42004664:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:42004664:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:42004664:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:42004664:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:42004664:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- SLC30A9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTT=0./0
(
ALFA)
T=0.1344/673
(1000Genomes)
- HGVS:
NC_000004.12:g.42004669_42004677del, NC_000004.12:g.42004674_42004677del, NC_000004.12:g.42004675_42004677del, NC_000004.12:g.42004676_42004677del, NC_000004.12:g.42004677del, NC_000004.12:g.42004677dup, NC_000004.12:g.42004676_42004677dup, NC_000004.12:g.42004675_42004677dup, NC_000004.12:g.42004674_42004677dup, NC_000004.12:g.42004673_42004677dup, NC_000004.12:g.42004672_42004677dup, NC_000004.12:g.42004670_42004677dup, NC_000004.12:g.42004669_42004677dup, NC_000004.12:g.42004668_42004677dup, NC_000004.12:g.42004677_42004678insTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.42004677_42004678insTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.42006686_42006694del, NC_000004.11:g.42006691_42006694del, NC_000004.11:g.42006692_42006694del, NC_000004.11:g.42006693_42006694del, NC_000004.11:g.42006694del, NC_000004.11:g.42006694dup, NC_000004.11:g.42006693_42006694dup, NC_000004.11:g.42006692_42006694dup, NC_000004.11:g.42006691_42006694dup, NC_000004.11:g.42006690_42006694dup, NC_000004.11:g.42006689_42006694dup, NC_000004.11:g.42006687_42006694dup, NC_000004.11:g.42006686_42006694dup, NC_000004.11:g.42006685_42006694dup, NC_000004.11:g.42006694_42006695insTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.42006694_42006695insTTTTTTTTTTTTTTTTTTTTT
16.
rs1491178262 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A,ATA,ATATA,ATATATA,ATATATATA,ATATATATATA,ATATATATATATA,ATATATATATATATA
[Show Flanks]
- Chromosome:
- 4:42075060
(GRCh38)
4:42077078
(GRCh37)
- Canonical SPDI:
- NC_000004.12:42075060::A,NC_000004.12:42075060::ATA,NC_000004.12:42075060::ATATA,NC_000004.12:42075060::ATATATA,NC_000004.12:42075060::ATATATATA,NC_000004.12:42075060::ATATATATATA,NC_000004.12:42075060::ATATATATATATA,NC_000004.12:42075060::ATATATATATATATA
- Gene:
- SLC30A9 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000004.12:g.42075060_42075061insA, NC_000004.12:g.42075060_42075061insATA, NC_000004.12:g.42075060_42075061insATATA, NC_000004.12:g.42075060_42075061insATATATA, NC_000004.12:g.42075060_42075061insATATATATA, NC_000004.12:g.42075060_42075061insATATATATATA, NC_000004.12:g.42075060_42075061insATATATATATATA, NC_000004.12:g.42075060_42075061insATATATATATATATA, NC_000004.11:g.42077077_42077078insA, NC_000004.11:g.42077077_42077078insATA, NC_000004.11:g.42077077_42077078insATATA, NC_000004.11:g.42077077_42077078insATATATA, NC_000004.11:g.42077077_42077078insATATATATA, NC_000004.11:g.42077077_42077078insATATATATATA, NC_000004.11:g.42077077_42077078insATATATATATATA, NC_000004.11:g.42077077_42077078insATATATATATATATA
17.
rs1491174160 has merged into rs36063492 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA,AAAAA,AAAAAA
[Show Flanks]
- Chromosome:
- 4:42014567
(GRCh38)
4:42016584
(GRCh37)
- Canonical SPDI:
- NC_000004.12:42014555:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:42014555:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:42014555:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:42014555:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:42014555:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:42014555:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
- Gene:
- SLC30A9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
-=0.4/16
(GENOME_DK)
-=0.4401/2204
(1000Genomes)
- HGVS:
NC_000004.12:g.42014567_42014569del, NC_000004.12:g.42014568_42014569del, NC_000004.12:g.42014569del, NC_000004.12:g.42014569dup, NC_000004.12:g.42014568_42014569dup, NC_000004.12:g.42014567_42014569dup, NC_000004.11:g.42016584_42016586del, NC_000004.11:g.42016585_42016586del, NC_000004.11:g.42016586del, NC_000004.11:g.42016586dup, NC_000004.11:g.42016585_42016586dup, NC_000004.11:g.42016584_42016586dup
18.
rs1491168652 has merged into rs71200203 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 4:42072828
(GRCh38)
4:42074845
(GRCh37)
- Canonical SPDI:
- NC_000004.12:42072812:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:42072812:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:42072812:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:42072812:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:42072812:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:42072812:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:42072812:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:42072812:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:42072812:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- SLC30A9 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTTT=0./0
(
ALFA)
T=0.3764/1885
(1000Genomes)
- HGVS:
NC_000004.12:g.42072828_42072831del, NC_000004.12:g.42072829_42072831del, NC_000004.12:g.42072830_42072831del, NC_000004.12:g.42072831del, NC_000004.12:g.42072831dup, NC_000004.12:g.42072830_42072831dup, NC_000004.12:g.42072829_42072831dup, NC_000004.12:g.42072813_42072831T[26]GTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000004.12:g.42072831_42072832insTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.42074845_42074848del, NC_000004.11:g.42074846_42074848del, NC_000004.11:g.42074847_42074848del, NC_000004.11:g.42074848del, NC_000004.11:g.42074848dup, NC_000004.11:g.42074847_42074848dup, NC_000004.11:g.42074846_42074848dup, NC_000004.11:g.42074830_42074848T[26]GTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000004.11:g.42074848_42074849insTTTTTTTTTTTTTTTTTTTTTTT
19.
rs1491087842 has merged into rs33970836 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA,AAAA,AAAAAAAA,AAAAAAAAA
[Show Flanks]
- Chromosome:
- 4:42018994
(GRCh38)
4:42021011
(GRCh37)
- Canonical SPDI:
- NC_000004.12:42018985:AAAAAAAAAA:AAAAAAAA,NC_000004.12:42018985:AAAAAAAAAA:AAAAAAAAA,NC_000004.12:42018985:AAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:42018985:AAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:42018985:AAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:42018985:AAAAAAAAAA:AAAAAAAAAAAAAAAAA
- Gene:
- SLC30A9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAA=0./0
(
ALFA)
A=0.03344/560
(TOMMO)
A=0.28464/1327
(1000Genomes)
A=0.35/14
(GENOME_DK)
- HGVS:
NC_000004.12:g.42018994_42018995del, NC_000004.12:g.42018995del, NC_000004.12:g.42018995dup, NC_000004.12:g.42018994_42018995dup, NC_000004.12:g.42018990_42018995dup, NC_000004.12:g.42018989_42018995dup, NC_000004.11:g.42021011_42021012del, NC_000004.11:g.42021012del, NC_000004.11:g.42021012dup, NC_000004.11:g.42021011_42021012dup, NC_000004.11:g.42021007_42021012dup, NC_000004.11:g.42021006_42021012dup