Links from Gene
Items: 1 to 20 of 21585
1.
rs1491576076 has merged into rs56657373 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 9:81747463
(GRCh38)
9:84362378
(GRCh37)
- Canonical SPDI:
- NC_000009.12:81747450:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:81747450:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:81747450:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:81747450:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:81747450:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:81747450:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:81747450:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:81747450:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:81747450:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:81747450:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:81747450:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:81747450:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- TLE1-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
NC_000009.12:g.81747463_81747469del, NC_000009.12:g.81747465_81747469del, NC_000009.12:g.81747466_81747469del, NC_000009.12:g.81747467_81747469del, NC_000009.12:g.81747468_81747469del, NC_000009.12:g.81747469del, NC_000009.12:g.81747469dup, NC_000009.12:g.81747468_81747469dup, NC_000009.12:g.81747467_81747469dup, NC_000009.12:g.81747466_81747469dup, NC_000009.12:g.81747465_81747469dup, NC_000009.12:g.81747464_81747469dup, NC_000009.11:g.84362378_84362384del, NC_000009.11:g.84362380_84362384del, NC_000009.11:g.84362381_84362384del, NC_000009.11:g.84362382_84362384del, NC_000009.11:g.84362383_84362384del, NC_000009.11:g.84362384del, NC_000009.11:g.84362384dup, NC_000009.11:g.84362383_84362384dup, NC_000009.11:g.84362382_84362384dup, NC_000009.11:g.84362381_84362384dup, NC_000009.11:g.84362380_84362384dup, NC_000009.11:g.84362379_84362384dup
2.
rs1491536895 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 9:81706572
(GRCh38)
9:84321487
(GRCh37)
- Canonical SPDI:
- NC_000009.12:81706571:AT:
- Gene:
- TLE1-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000253/3
(
ALFA)
-=0.000156/1
(1000Genomes)
-=0.000535/59
(GnomAD)
- HGVS:
3.
rs1491532918 has merged into rs766938374 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GGGG>-,GG,GGG,GGGGG,GGGGGG,GGGGGGG,GGGGGGGG,GGGGGGGGG,GGGGGGGGGG,GGGGGGGGGGG,GGGGGGGGGGGG
[Show Flanks]
- Chromosome:
- 9:81689668
(GRCh38)
9:84304583
(GRCh37)
- Canonical SPDI:
- NC_000009.12:81689661:GGGGGGGGGG:GGGGGG,NC_000009.12:81689661:GGGGGGGGGG:GGGGGGGG,NC_000009.12:81689661:GGGGGGGGGG:GGGGGGGGG,NC_000009.12:81689661:GGGGGGGGGG:GGGGGGGGGGG,NC_000009.12:81689661:GGGGGGGGGG:GGGGGGGGGGGG,NC_000009.12:81689661:GGGGGGGGGG:GGGGGGGGGGGGG,NC_000009.12:81689661:GGGGGGGGGG:GGGGGGGGGGGGGG,NC_000009.12:81689661:GGGGGGGGGG:GGGGGGGGGGGGGGG,NC_000009.12:81689661:GGGGGGGGGG:GGGGGGGGGGGGGGGG,NC_000009.12:81689661:GGGGGGGGGG:GGGGGGGGGGGGGGGGG,NC_000009.12:81689661:GGGGGGGGGG:GGGGGGGGGGGGGGGGGG
- Gene:
- TLE1 (Varview), TLE1-DT (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGGGGGGG=0./0
(
ALFA)
-=0.475/19
(GENOME_DK)
- HGVS:
NC_000009.12:g.81689668_81689671del, NC_000009.12:g.81689670_81689671del, NC_000009.12:g.81689671del, NC_000009.12:g.81689671dup, NC_000009.12:g.81689670_81689671dup, NC_000009.12:g.81689669_81689671dup, NC_000009.12:g.81689668_81689671dup, NC_000009.12:g.81689667_81689671dup, NC_000009.12:g.81689666_81689671dup, NC_000009.12:g.81689665_81689671dup, NC_000009.12:g.81689664_81689671dup, NC_000009.11:g.84304583_84304586del, NC_000009.11:g.84304585_84304586del, NC_000009.11:g.84304586del, NC_000009.11:g.84304586dup, NC_000009.11:g.84304585_84304586dup, NC_000009.11:g.84304584_84304586dup, NC_000009.11:g.84304583_84304586dup, NC_000009.11:g.84304582_84304586dup, NC_000009.11:g.84304581_84304586dup, NC_000009.11:g.84304580_84304586dup, NC_000009.11:g.84304579_84304586dup
5.
rs1491524021 has merged into rs748819181 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TATATATATATA>-,TA,TATA,TATATA,TATATATA,TATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATATA,TATATATATATATATATATATATA,TATATATATATATATATATATATATA,TATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATA
[Show Flanks]
- Chromosome:
- 9:81697260
(GRCh38)
9:84312175
(GRCh37)
- Canonical SPDI:
- NC_000009.12:81697246:ATATATATATATATATATATATATA:ATATATATATATA,NC_000009.12:81697246:ATATATATATATATATATATATATA:ATATATATATATATA,NC_000009.12:81697246:ATATATATATATATATATATATATA:ATATATATATATATATA,NC_000009.12:81697246:ATATATATATATATATATATATATA:ATATATATATATATATATA,NC_000009.12:81697246:ATATATATATATATATATATATATA:ATATATATATATATATATATA,NC_000009.12:81697246:ATATATATATATATATATATATATA:ATATATATATATATATATATATA,NC_000009.12:81697246:ATATATATATATATATATATATATA:ATATATATATATATATATATATATATA,NC_000009.12:81697246:ATATATATATATATATATATATATA:ATATATATATATATATATATATATATATA,NC_000009.12:81697246:ATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATA,NC_000009.12:81697246:ATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATA,NC_000009.12:81697246:ATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATA,NC_000009.12:81697246:ATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATA,NC_000009.12:81697246:ATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATA,NC_000009.12:81697246:ATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATA,NC_000009.12:81697246:ATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATA,NC_000009.12:81697246:ATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATA,NC_000009.12:81697246:ATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATA,NC_000009.12:81697246:ATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000009.12:81697246:ATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATA
- Gene:
- TLE1-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATATATATATATA=0./0
(
ALFA)
-=0.075/3
(GENOME_DK)
- HGVS:
NC_000009.12:g.81697248TA[6], NC_000009.12:g.81697248TA[7], NC_000009.12:g.81697248TA[8], NC_000009.12:g.81697248TA[9], NC_000009.12:g.81697248TA[10], NC_000009.12:g.81697248TA[11], NC_000009.12:g.81697248TA[13], NC_000009.12:g.81697248TA[14], NC_000009.12:g.81697248TA[15], NC_000009.12:g.81697248TA[16], NC_000009.12:g.81697248TA[17], NC_000009.12:g.81697248TA[18], NC_000009.12:g.81697248TA[19], NC_000009.12:g.81697248TA[20], NC_000009.12:g.81697248TA[21], NC_000009.12:g.81697248TA[22], NC_000009.12:g.81697248TA[23], NC_000009.12:g.81697248TA[24], NC_000009.12:g.81697248TA[25], NC_000009.11:g.84312163TA[6], NC_000009.11:g.84312163TA[7], NC_000009.11:g.84312163TA[8], NC_000009.11:g.84312163TA[9], NC_000009.11:g.84312163TA[10], NC_000009.11:g.84312163TA[11], NC_000009.11:g.84312163TA[13], NC_000009.11:g.84312163TA[14], NC_000009.11:g.84312163TA[15], NC_000009.11:g.84312163TA[16], NC_000009.11:g.84312163TA[17], NC_000009.11:g.84312163TA[18], NC_000009.11:g.84312163TA[19], NC_000009.11:g.84312163TA[20], NC_000009.11:g.84312163TA[21], NC_000009.11:g.84312163TA[22], NC_000009.11:g.84312163TA[23], NC_000009.11:g.84312163TA[24], NC_000009.11:g.84312163TA[25]
7.
rs1491477400 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 9:81774934
(GRCh38)
9:84389850
(GRCh37)
- Canonical SPDI:
- NC_000009.12:81774934:A:AA
- Gene:
- TLE1-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AA=0./0
(
ALFA)
A=0.000015/2
(GnomAD)
- HGVS:
8.
rs1491449958 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 9:81774488
(GRCh38)
9:84389404
(GRCh37)
- Canonical SPDI:
- NC_000009.12:81774488:GGGG:GGGGG
- Gene:
- TLE1-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GGGGG=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
9.
rs1491442331 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 9:81746889
(GRCh38)
9:84361805
(GRCh37)
- Canonical SPDI:
- NC_000009.12:81746889:C:CC
- Gene:
- TLE1-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CC=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
10.
rs1491440625 has merged into rs1179686074 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 9:81709258
(GRCh38)
9:84324173
(GRCh37)
- Canonical SPDI:
- NC_000009.12:81709248:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000009.12:81709248:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000009.12:81709248:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000009.12:81709248:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:81709248:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:81709248:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:81709248:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:81709248:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:81709248:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:81709248:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:81709248:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:81709248:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:81709248:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:81709248:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:81709248:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:81709248:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:81709248:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:81709248:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:81709248:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- TLE1-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000009.12:g.81709258_81709272del, NC_000009.12:g.81709259_81709272del, NC_000009.12:g.81709260_81709272del, NC_000009.12:g.81709261_81709272del, NC_000009.12:g.81709262_81709272del, NC_000009.12:g.81709263_81709272del, NC_000009.12:g.81709264_81709272del, NC_000009.12:g.81709265_81709272del, NC_000009.12:g.81709266_81709272del, NC_000009.12:g.81709267_81709272del, NC_000009.12:g.81709268_81709272del, NC_000009.12:g.81709270_81709272del, NC_000009.12:g.81709271_81709272del, NC_000009.12:g.81709272del, NC_000009.12:g.81709272dup, NC_000009.12:g.81709271_81709272dup, NC_000009.12:g.81709270_81709272dup, NC_000009.12:g.81709267_81709272dup, NC_000009.12:g.81709266_81709272dup, NC_000009.11:g.84324173_84324187del, NC_000009.11:g.84324174_84324187del, NC_000009.11:g.84324175_84324187del, NC_000009.11:g.84324176_84324187del, NC_000009.11:g.84324177_84324187del, NC_000009.11:g.84324178_84324187del, NC_000009.11:g.84324179_84324187del, NC_000009.11:g.84324180_84324187del, NC_000009.11:g.84324181_84324187del, NC_000009.11:g.84324182_84324187del, NC_000009.11:g.84324183_84324187del, NC_000009.11:g.84324185_84324187del, NC_000009.11:g.84324186_84324187del, NC_000009.11:g.84324187del, NC_000009.11:g.84324187dup, NC_000009.11:g.84324186_84324187dup, NC_000009.11:g.84324185_84324187dup, NC_000009.11:g.84324182_84324187dup, NC_000009.11:g.84324181_84324187dup
11.
rs1491412019 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TCAC
[Show Flanks]
- Chromosome:
- 9:81712615
(GRCh38)
9:84327531
(GRCh37)
- Canonical SPDI:
- NC_000009.12:81712615:CAC:CACTCAC
- Gene:
- TLE1-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CACTCAC=0./0
(
ALFA)
CACT=0.00021/1
(GnomAD)
- HGVS:
12.
rs1491403729 has merged into rs397893266 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA
[Show Flanks]
- Chromosome:
- 9:81731566
(GRCh38)
9:84346481
(GRCh37)
- Canonical SPDI:
- NC_000009.12:81731552:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:81731552:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:81731552:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:81731552:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:81731552:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:81731552:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:81731552:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:81731552:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
- Gene:
- TLE1-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
NC_000009.12:g.81731566_81731570del, NC_000009.12:g.81731567_81731570del, NC_000009.12:g.81731568_81731570del, NC_000009.12:g.81731569_81731570del, NC_000009.12:g.81731570del, NC_000009.12:g.81731570dup, NC_000009.12:g.81731569_81731570dup, NC_000009.12:g.81731568_81731570dup, NC_000009.11:g.84346481_84346485del, NC_000009.11:g.84346482_84346485del, NC_000009.11:g.84346483_84346485del, NC_000009.11:g.84346484_84346485del, NC_000009.11:g.84346485del, NC_000009.11:g.84346485dup, NC_000009.11:g.84346484_84346485dup, NC_000009.11:g.84346483_84346485dup
13.
rs1491354513 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TGGGG
[Show Flanks]
- Chromosome:
- 9:81689655
(GRCh38)
9:84304571
(GRCh37)
- Canonical SPDI:
- NC_000009.12:81689655:GGGG:GGGGTGGGG
- Gene:
- TLE1 (Varview), TLE1-DT (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGGTGGGG=0.00017/2
(
ALFA)
GGGGT=0.00109/22
(GnomAD)
GGGGT=0.00133/20
(TOMMO)
GGGGT=0.00237/4
(Korea1K)
- HGVS:
14.
rs1491336485 has merged into rs4069933 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACA
[Show Flanks]
- Chromosome:
- 9:81712630
(GRCh38)
9:84327545
(GRCh37)
- Canonical SPDI:
- NC_000009.12:81712614:ACACACACACACACACACACACACACA:ACACACACACACACA,NC_000009.12:81712614:ACACACACACACACACACACACACACA:ACACACACACACACACA,NC_000009.12:81712614:ACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000009.12:81712614:ACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000009.12:81712614:ACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000009.12:81712614:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000009.12:81712614:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000009.12:81712614:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000009.12:81712614:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000009.12:81712614:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000009.12:81712614:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000009.12:81712614:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000009.12:81712614:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000009.12:81712614:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA,NC_000009.12:81712614:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA,NC_000009.12:81712614:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA,NC_000009.12:81712614:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000009.12:81712614:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000009.12:81712614:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000009.12:81712614:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000009.12:81712614:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000009.12:81712614:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
- Gene:
- TLE1-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACACACA=0./0
(
ALFA)
AC=0.2059/1031
(1000Genomes)
- HGVS:
NC_000009.12:g.81712616CA[7], NC_000009.12:g.81712616CA[8], NC_000009.12:g.81712616CA[9], NC_000009.12:g.81712616CA[10], NC_000009.12:g.81712616CA[11], NC_000009.12:g.81712616CA[12], NC_000009.12:g.81712616CA[14], NC_000009.12:g.81712616CA[15], NC_000009.12:g.81712616CA[16], NC_000009.12:g.81712616CA[17], NC_000009.12:g.81712616CA[18], NC_000009.12:g.81712616CA[19], NC_000009.12:g.81712616CA[20], NC_000009.12:g.81712616CA[21], NC_000009.12:g.81712616CA[22], NC_000009.12:g.81712616CA[23], NC_000009.12:g.81712616CA[24], NC_000009.12:g.81712616CA[25], NC_000009.12:g.81712616CA[26], NC_000009.12:g.81712616CA[27], NC_000009.12:g.81712616CA[28], NC_000009.12:g.81712616CA[29], NC_000009.11:g.84327531CA[7], NC_000009.11:g.84327531CA[8], NC_000009.11:g.84327531CA[9], NC_000009.11:g.84327531CA[10], NC_000009.11:g.84327531CA[11], NC_000009.11:g.84327531CA[12], NC_000009.11:g.84327531CA[14], NC_000009.11:g.84327531CA[15], NC_000009.11:g.84327531CA[16], NC_000009.11:g.84327531CA[17], NC_000009.11:g.84327531CA[18], NC_000009.11:g.84327531CA[19], NC_000009.11:g.84327531CA[20], NC_000009.11:g.84327531CA[21], NC_000009.11:g.84327531CA[22], NC_000009.11:g.84327531CA[23], NC_000009.11:g.84327531CA[24], NC_000009.11:g.84327531CA[25], NC_000009.11:g.84327531CA[26], NC_000009.11:g.84327531CA[27], NC_000009.11:g.84327531CA[28], NC_000009.11:g.84327531CA[29]
16.
rs1491314719 has merged into rs58202187 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 9:81725235
(GRCh38)
9:84340150
(GRCh37)
- Canonical SPDI:
- NC_000009.12:81725222:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:81725222:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:81725222:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:81725222:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:81725222:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:81725222:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:81725222:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:81725222:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:81725222:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:81725222:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:81725222:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:81725222:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:81725222:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:81725222:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:81725222:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:81725222:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- TLE1-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
AAA=0.000004/1
(TOPMED)
- HGVS:
NC_000009.12:g.81725235_81725249del, NC_000009.12:g.81725236_81725249del, NC_000009.12:g.81725237_81725249del, NC_000009.12:g.81725239_81725249del, NC_000009.12:g.81725240_81725249del, NC_000009.12:g.81725241_81725249del, NC_000009.12:g.81725242_81725249del, NC_000009.12:g.81725244_81725249del, NC_000009.12:g.81725245_81725249del, NC_000009.12:g.81725246_81725249del, NC_000009.12:g.81725247_81725249del, NC_000009.12:g.81725248_81725249del, NC_000009.12:g.81725249del, NC_000009.12:g.81725249dup, NC_000009.12:g.81725247_81725249dup, NC_000009.12:g.81725243_81725249dup, NC_000009.11:g.84340150_84340164del, NC_000009.11:g.84340151_84340164del, NC_000009.11:g.84340152_84340164del, NC_000009.11:g.84340154_84340164del, NC_000009.11:g.84340155_84340164del, NC_000009.11:g.84340156_84340164del, NC_000009.11:g.84340157_84340164del, NC_000009.11:g.84340159_84340164del, NC_000009.11:g.84340160_84340164del, NC_000009.11:g.84340161_84340164del, NC_000009.11:g.84340162_84340164del, NC_000009.11:g.84340163_84340164del, NC_000009.11:g.84340164del, NC_000009.11:g.84340164dup, NC_000009.11:g.84340162_84340164dup, NC_000009.11:g.84340158_84340164dup, NG_043710.1:g.213_227del, NG_043710.1:g.214_227del, NG_043710.1:g.215_227del, NG_043710.1:g.217_227del, NG_043710.1:g.218_227del, NG_043710.1:g.219_227del, NG_043710.1:g.220_227del, NG_043710.1:g.222_227del, NG_043710.1:g.223_227del, NG_043710.1:g.224_227del, NG_043710.1:g.225_227del, NG_043710.1:g.226_227del, NG_043710.1:g.227del, NG_043710.1:g.227dup, NG_043710.1:g.225_227dup, NG_043710.1:g.221_227dup
17.
rs1491308817 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TC>-
[Show Flanks]
- Chromosome:
- 9:81728465
(GRCh38)
9:84343380
(GRCh37)
- Canonical SPDI:
- NC_000009.12:81728464:TC:
- Gene:
- TLE1-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.004721/56
(
ALFA)
-=0.000425/7
(TOMMO)
-=0.004372/28
(1000Genomes)
-=0.006651/708
(GnomAD)
- HGVS:
18.
rs1491304187 has merged into rs35530059 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 9:81706585
(GRCh38)
9:84321500
(GRCh37)
- Canonical SPDI:
- NC_000009.12:81706572:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:81706572:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:81706572:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:81706572:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:81706572:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:81706572:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:81706572:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:81706572:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000009.12:81706572:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- TLE1-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
TT=0.4151/2079
(1000Genomes)
- HGVS:
NC_000009.12:g.81706585_81706591del, NC_000009.12:g.81706587_81706591del, NC_000009.12:g.81706588_81706591del, NC_000009.12:g.81706589_81706591del, NC_000009.12:g.81706590_81706591del, NC_000009.12:g.81706591del, NC_000009.12:g.81706591dup, NC_000009.12:g.81706590_81706591dup, NC_000009.12:g.81706587_81706591dup, NC_000009.11:g.84321500_84321506del, NC_000009.11:g.84321502_84321506del, NC_000009.11:g.84321503_84321506del, NC_000009.11:g.84321504_84321506del, NC_000009.11:g.84321505_84321506del, NC_000009.11:g.84321506del, NC_000009.11:g.84321506dup, NC_000009.11:g.84321505_84321506dup, NC_000009.11:g.84321502_84321506dup
20.
rs1491249586 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GA,GAAAAAAAAAAAAAAAAAACAAAAAAAAA
[Show Flanks]
- Chromosome:
- 9:81731552
(GRCh38)
9:84346468
(GRCh37)
- Canonical SPDI:
- NC_000009.12:81731552:A:AGA,NC_000009.12:81731552:A:AGAAAAAAAAAAAAAAAAAACAAAAAAAAA
- Gene:
- TLE1-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGA=0./0
(
ALFA)
AG=0.00006/1
(TOMMO)
- HGVS: