Links from Gene
Items: 1 to 20 of 11034
1.
rs1491565905 has merged into rs777821777 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 1:15623397
(GRCh38)
1:15949892
(GRCh37)
- Canonical SPDI:
- NC_000001.11:15623387:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000001.11:15623387:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:15623387:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:15623387:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:15623387:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:15623387:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:15623387:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:15623387:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:15623387:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:15623387:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:15623387:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15623387:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15623387:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15623387:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15623387:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15623387:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15623387:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15623387:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15623387:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15623387:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15623387:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15623387:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15623387:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15623387:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- DDI2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTT=0./0
(
ALFA)
-=0./0
(GENOME_DK)
- HGVS:
NC_000001.11:g.15623397_15623409del, NC_000001.11:g.15623399_15623409del, NC_000001.11:g.15623400_15623409del, NC_000001.11:g.15623401_15623409del, NC_000001.11:g.15623403_15623409del, NC_000001.11:g.15623404_15623409del, NC_000001.11:g.15623405_15623409del, NC_000001.11:g.15623406_15623409del, NC_000001.11:g.15623407_15623409del, NC_000001.11:g.15623408_15623409del, NC_000001.11:g.15623409del, NC_000001.11:g.15623409dup, NC_000001.11:g.15623408_15623409dup, NC_000001.11:g.15623407_15623409dup, NC_000001.11:g.15623406_15623409dup, NC_000001.11:g.15623405_15623409dup, NC_000001.11:g.15623404_15623409dup, NC_000001.11:g.15623403_15623409dup, NC_000001.11:g.15623402_15623409dup, NC_000001.11:g.15623401_15623409dup, NC_000001.11:g.15623400_15623409dup, NC_000001.11:g.15623399_15623409dup, NC_000001.11:g.15623398_15623409dup, NC_000001.11:g.15623395_15623409dup, NC_000001.10:g.15949892_15949904del, NC_000001.10:g.15949894_15949904del, NC_000001.10:g.15949895_15949904del, NC_000001.10:g.15949896_15949904del, NC_000001.10:g.15949898_15949904del, NC_000001.10:g.15949899_15949904del, NC_000001.10:g.15949900_15949904del, NC_000001.10:g.15949901_15949904del, NC_000001.10:g.15949902_15949904del, NC_000001.10:g.15949903_15949904del, NC_000001.10:g.15949904del, NC_000001.10:g.15949904dup, NC_000001.10:g.15949903_15949904dup, NC_000001.10:g.15949902_15949904dup, NC_000001.10:g.15949901_15949904dup, NC_000001.10:g.15949900_15949904dup, NC_000001.10:g.15949899_15949904dup, NC_000001.10:g.15949898_15949904dup, NC_000001.10:g.15949897_15949904dup, NC_000001.10:g.15949896_15949904dup, NC_000001.10:g.15949895_15949904dup, NC_000001.10:g.15949894_15949904dup, NC_000001.10:g.15949893_15949904dup, NC_000001.10:g.15949890_15949904dup
2.
rs1491548741 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 1:15641955
(GRCh38)
1:15968450
(GRCh37)
- Canonical SPDI:
- NC_000001.11:15641954:CA:
- Gene:
- DDI2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.00042/5
(
ALFA)
-=0.00021/10
(GnomAD)
- HGVS:
3.
rs1491482038 has merged into rs36082177 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 1:15648850
(GRCh38)
1:15975345
(GRCh37)
- Canonical SPDI:
- NC_000001.11:15648834:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:15648834:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:15648834:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:15648834:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:15648834:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:15648834:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:15648834:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:15648834:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:15648834:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:15648834:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:15648834:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:15648834:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- DDI2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
NC_000001.11:g.15648850_15648852del, NC_000001.11:g.15648851_15648852del, NC_000001.11:g.15648852del, NC_000001.11:g.15648852dup, NC_000001.11:g.15648851_15648852dup, NC_000001.11:g.15648850_15648852dup, NC_000001.11:g.15648849_15648852dup, NC_000001.11:g.15648848_15648852dup, NC_000001.11:g.15648847_15648852dup, NC_000001.11:g.15648846_15648852dup, NC_000001.11:g.15648844_15648852dup, NC_000001.11:g.15648843_15648852dup, NC_000001.10:g.15975345_15975347del, NC_000001.10:g.15975346_15975347del, NC_000001.10:g.15975347del, NC_000001.10:g.15975347dup, NC_000001.10:g.15975346_15975347dup, NC_000001.10:g.15975345_15975347dup, NC_000001.10:g.15975344_15975347dup, NC_000001.10:g.15975343_15975347dup, NC_000001.10:g.15975342_15975347dup, NC_000001.10:g.15975341_15975347dup, NC_000001.10:g.15975339_15975347dup, NC_000001.10:g.15975338_15975347dup
5.
rs1491380215 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 1:15632931
(GRCh38)
1:15959426
(GRCh37)
- Canonical SPDI:
- NC_000001.11:15632930:TA:
- Gene:
- DDI2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.0002/22
(GnomAD)
- HGVS:
8.
rs1491214338 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->TA,TAA
[Show Flanks]
- Chromosome:
- 1:15632931
(GRCh38)
1:15959427
(GRCh37)
- Canonical SPDI:
- NC_000001.11:15632931::TA,NC_000001.11:15632931::TAA
- Gene:
- DDI2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TAA=0.00008/1
(
ALFA)
TAA=0.00006/6
(GnomAD)
- HGVS:
9.
rs1491055759 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 1:15638552
(GRCh38)
1:15965047
(GRCh37)
- Canonical SPDI:
- NC_000001.11:15638551:TG:
- Gene:
- DDI2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.019221/228
(
ALFA)
-=0.000355/10
(TOMMO)
-=0.001436/166
(GnomAD)
- HGVS:
10.
rs1491049740 has merged into rs138470671 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTT>-,TT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 1:15644597
(GRCh38)
1:15971092
(GRCh37)
- Canonical SPDI:
- NC_000001.11:15644587:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000001.11:15644587:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:15644587:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:15644587:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:15644587:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:15644587:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:15644587:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:15644587:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:15644587:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15644587:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15644587:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15644587:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15644587:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15644587:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15644587:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15644587:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15644587:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15644587:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15644587:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15644587:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15644587:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15644587:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15644587:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15644587:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15644587:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15644587:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15644587:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15644587:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15644587:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- DDI2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
TTTTTTTT=0.225/9
(GENOME_DK)
- HGVS:
NC_000001.11:g.15644597_15644611del, NC_000001.11:g.15644599_15644611del, NC_000001.11:g.15644601_15644611del, NC_000001.11:g.15644602_15644611del, NC_000001.11:g.15644604_15644611del, NC_000001.11:g.15644605_15644611del, NC_000001.11:g.15644606_15644611del, NC_000001.11:g.15644608_15644611del, NC_000001.11:g.15644609_15644611del, NC_000001.11:g.15644610_15644611del, NC_000001.11:g.15644611del, NC_000001.11:g.15644611dup, NC_000001.11:g.15644610_15644611dup, NC_000001.11:g.15644609_15644611dup, NC_000001.11:g.15644607_15644611dup, NC_000001.11:g.15644606_15644611dup, NC_000001.11:g.15644604_15644611dup, NC_000001.11:g.15644603_15644611dup, NC_000001.11:g.15644602_15644611dup, NC_000001.11:g.15644600_15644611dup, NC_000001.11:g.15644599_15644611dup, NC_000001.11:g.15644598_15644611dup, NC_000001.11:g.15644597_15644611dup, NC_000001.11:g.15644596_15644611dup, NC_000001.11:g.15644595_15644611dup, NC_000001.11:g.15644594_15644611dup, NC_000001.11:g.15644592_15644611dup, NC_000001.11:g.15644591_15644611dup, NC_000001.11:g.15644611_15644612insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.15971092_15971106del, NC_000001.10:g.15971094_15971106del, NC_000001.10:g.15971096_15971106del, NC_000001.10:g.15971097_15971106del, NC_000001.10:g.15971099_15971106del, NC_000001.10:g.15971100_15971106del, NC_000001.10:g.15971101_15971106del, NC_000001.10:g.15971103_15971106del, NC_000001.10:g.15971104_15971106del, NC_000001.10:g.15971105_15971106del, NC_000001.10:g.15971106del, NC_000001.10:g.15971106dup, NC_000001.10:g.15971105_15971106dup, NC_000001.10:g.15971104_15971106dup, NC_000001.10:g.15971102_15971106dup, NC_000001.10:g.15971101_15971106dup, NC_000001.10:g.15971099_15971106dup, NC_000001.10:g.15971098_15971106dup, NC_000001.10:g.15971097_15971106dup, NC_000001.10:g.15971095_15971106dup, NC_000001.10:g.15971094_15971106dup, NC_000001.10:g.15971093_15971106dup, NC_000001.10:g.15971092_15971106dup, NC_000001.10:g.15971091_15971106dup, NC_000001.10:g.15971090_15971106dup, NC_000001.10:g.15971089_15971106dup, NC_000001.10:g.15971087_15971106dup, NC_000001.10:g.15971086_15971106dup, NC_000001.10:g.15971106_15971107insTTTTTTTTTTTTTTTTTTTTTTTTTTT
11.
rs1491011150 has merged into rs3070655 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAA>-,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA
[Show Flanks]
- Chromosome:
- 1:15658765
(GRCh38)
1:15985260
(GRCh37)
- Canonical SPDI:
- NC_000001.11:15658754:AAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:15658754:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:15658754:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:15658754:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:15658754:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:15658754:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
- Gene:
- RSC1A1 (Varview), DDI2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
-=0.3395/1700
(1000Genomes)
- HGVS:
NC_000001.11:g.15658765_15658769del, NC_000001.11:g.15658768_15658769del, NC_000001.11:g.15658769del, NC_000001.11:g.15658769dup, NC_000001.11:g.15658768_15658769dup, NC_000001.11:g.15658767_15658769dup, NC_000001.10:g.15985260_15985264del, NC_000001.10:g.15985263_15985264del, NC_000001.10:g.15985264del, NC_000001.10:g.15985264dup, NC_000001.10:g.15985263_15985264dup, NC_000001.10:g.15985262_15985264dup
12.
rs1490984591 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 1:15631185
(GRCh38)
1:15957680
(GRCh37)
- Canonical SPDI:
- NC_000001.11:15631184:A:T
- Gene:
- DDI2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000015/2
(GnomAD)
- HGVS:
13.
rs1490960252 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 1:15645692
(GRCh38)
1:15972187
(GRCh37)
- Canonical SPDI:
- NC_000001.11:15645691:G:T
- Gene:
- DDI2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
14.
rs1490900381 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CTCCTGACCTTGTGA>-
[Show Flanks]
- Chromosome:
- 1:15616323
(GRCh38)
1:15942818
(GRCh37)
- Canonical SPDI:
- NC_000001.11:15616321:ACTCCTGACCTTGTGA:A
- Gene:
- DDI2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
-=0.000015/4
(TOPMED)
- HGVS:
15.
rs1490866897 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 1:15617498
(GRCh38)
1:15943993
(GRCh37)
- Canonical SPDI:
- NC_000001.11:15617497:G:C
- Gene:
- DDI2 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant
- Validated:
- by frequency
- MAF:
C=0.000007/1
(GnomAD)
- HGVS:
16.
rs1490787848 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 1:15652667
(GRCh38)
1:15979162
(GRCh37)
- Canonical SPDI:
- NC_000001.11:15652666:C:G
- Gene:
- DDI2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000021/3
(GnomAD)
- HGVS:
17.
rs1490623254 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:15623326
(GRCh38)
1:15949821
(GRCh37)
- Canonical SPDI:
- NC_000001.11:15623325:T:C
- Gene:
- DDI2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
18.
rs1490554416 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:15638829
(GRCh38)
1:15965324
(GRCh37)
- Canonical SPDI:
- NC_000001.11:15638828:G:A
- Gene:
- DDI2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000216/4
(
ALFA)
A=0.000015/4
(TOPMED)
A=0.00005/7
(GnomAD)
A=0.000893/4
(Estonian)
- HGVS:
20.
rs1490473688 has merged into rs138470671 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTT>-,TT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 1:15644597
(GRCh38)
1:15971092
(GRCh37)
- Canonical SPDI:
- NC_000001.11:15644587:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000001.11:15644587:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:15644587:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:15644587:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:15644587:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:15644587:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:15644587:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:15644587:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:15644587:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15644587:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15644587:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15644587:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15644587:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15644587:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15644587:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15644587:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15644587:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15644587:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15644587:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15644587:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15644587:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15644587:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15644587:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15644587:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15644587:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15644587:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15644587:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15644587:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15644587:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- DDI2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
TTTTTTTT=0.225/9
(GENOME_DK)
- HGVS:
NC_000001.11:g.15644597_15644611del, NC_000001.11:g.15644599_15644611del, NC_000001.11:g.15644601_15644611del, NC_000001.11:g.15644602_15644611del, NC_000001.11:g.15644604_15644611del, NC_000001.11:g.15644605_15644611del, NC_000001.11:g.15644606_15644611del, NC_000001.11:g.15644608_15644611del, NC_000001.11:g.15644609_15644611del, NC_000001.11:g.15644610_15644611del, NC_000001.11:g.15644611del, NC_000001.11:g.15644611dup, NC_000001.11:g.15644610_15644611dup, NC_000001.11:g.15644609_15644611dup, NC_000001.11:g.15644607_15644611dup, NC_000001.11:g.15644606_15644611dup, NC_000001.11:g.15644604_15644611dup, NC_000001.11:g.15644603_15644611dup, NC_000001.11:g.15644602_15644611dup, NC_000001.11:g.15644600_15644611dup, NC_000001.11:g.15644599_15644611dup, NC_000001.11:g.15644598_15644611dup, NC_000001.11:g.15644597_15644611dup, NC_000001.11:g.15644596_15644611dup, NC_000001.11:g.15644595_15644611dup, NC_000001.11:g.15644594_15644611dup, NC_000001.11:g.15644592_15644611dup, NC_000001.11:g.15644591_15644611dup, NC_000001.11:g.15644611_15644612insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.15971092_15971106del, NC_000001.10:g.15971094_15971106del, NC_000001.10:g.15971096_15971106del, NC_000001.10:g.15971097_15971106del, NC_000001.10:g.15971099_15971106del, NC_000001.10:g.15971100_15971106del, NC_000001.10:g.15971101_15971106del, NC_000001.10:g.15971103_15971106del, NC_000001.10:g.15971104_15971106del, NC_000001.10:g.15971105_15971106del, NC_000001.10:g.15971106del, NC_000001.10:g.15971106dup, NC_000001.10:g.15971105_15971106dup, NC_000001.10:g.15971104_15971106dup, NC_000001.10:g.15971102_15971106dup, NC_000001.10:g.15971101_15971106dup, NC_000001.10:g.15971099_15971106dup, NC_000001.10:g.15971098_15971106dup, NC_000001.10:g.15971097_15971106dup, NC_000001.10:g.15971095_15971106dup, NC_000001.10:g.15971094_15971106dup, NC_000001.10:g.15971093_15971106dup, NC_000001.10:g.15971092_15971106dup, NC_000001.10:g.15971091_15971106dup, NC_000001.10:g.15971090_15971106dup, NC_000001.10:g.15971089_15971106dup, NC_000001.10:g.15971087_15971106dup, NC_000001.10:g.15971086_15971106dup, NC_000001.10:g.15971106_15971107insTTTTTTTTTTTTTTTTTTTTTTTTTTT