Links from Gene
Items: 1 to 20 of 14610
1.
rs1491553719 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 21:28947626
(GRCh38)
21:30319949
(GRCh37)
- Canonical SPDI:
- NC_000021.9:28947626::T
- Gene:
- LTN1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
T=0.000007/1
(GnomAD)
- HGVS:
2.
rs1491510784 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 21:28931101
(GRCh38)
21:30303423
(GRCh37)
- Canonical SPDI:
- NC_000021.9:28931099:TTT:T
- Gene:
- LTN1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
-=0.000015/4
(TOPMED)
-=0.00003/4
(GnomAD)
- HGVS:
3.
rs1491261167 has merged into rs369698319 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 21:28933689
(GRCh38)
21:30306011
(GRCh37)
- Canonical SPDI:
- NC_000021.9:28933677:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000021.9:28933677:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000021.9:28933677:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000021.9:28933677:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000021.9:28933677:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000021.9:28933677:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000021.9:28933677:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000021.9:28933677:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000021.9:28933677:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000021.9:28933677:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LTN1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
TTT=0.000004/1
(TOPMED)
-=0.229233/1148
(1000Genomes)
- HGVS:
NC_000021.9:g.28933689_28933693del, NC_000021.9:g.28933690_28933693del, NC_000021.9:g.28933691_28933693del, NC_000021.9:g.28933692_28933693del, NC_000021.9:g.28933693del, NC_000021.9:g.28933693dup, NC_000021.9:g.28933692_28933693dup, NC_000021.9:g.28933691_28933693dup, NC_000021.9:g.28933689_28933693dup, NC_000021.9:g.28933687_28933693dup, NC_000021.8:g.30306011_30306015del, NC_000021.8:g.30306012_30306015del, NC_000021.8:g.30306013_30306015del, NC_000021.8:g.30306014_30306015del, NC_000021.8:g.30306015del, NC_000021.8:g.30306015dup, NC_000021.8:g.30306014_30306015dup, NC_000021.8:g.30306013_30306015dup, NC_000021.8:g.30306011_30306015dup, NC_000021.8:g.30306009_30306015dup, NW_025791813.1:g.24423_24427del, NW_025791813.1:g.24424_24427del, NW_025791813.1:g.24425_24427del, NW_025791813.1:g.24426_24427del, NW_025791813.1:g.24427del, NW_025791813.1:g.24427dup, NW_025791813.1:g.24426_24427dup, NW_025791813.1:g.24425_24427dup, NW_025791813.1:g.24423_24427dup, NW_025791813.1:g.24421_24427dup
4.
rs1491252009 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 21:28955922
(GRCh38)
21:30328244
(GRCh37)
- Canonical SPDI:
- NC_000021.9:28955921:CA:
- Gene:
- LTN1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.00641/76
(
ALFA)
-=0.00172/48
(TOMMO)
- HGVS:
5.
rs1491222804 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C,CC,CTC,CTCC
[Show Flanks]
- Chromosome:
- 21:28933678
(GRCh38)
21:30306001
(GRCh37)
- Canonical SPDI:
- NC_000021.9:28933678::C,NC_000021.9:28933678::CC,NC_000021.9:28933678::CTC,NC_000021.9:28933678::CTCC
- Gene:
- LTN1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0./0
(
ALFA)
C=0.00004/1
(TOMMO)
- HGVS:
NC_000021.9:g.28933678_28933679insC, NC_000021.9:g.28933678_28933679insCC, NC_000021.9:g.28933678_28933679insCTC, NC_000021.9:g.28933678_28933679insCTCC, NC_000021.8:g.30306000_30306001insC, NC_000021.8:g.30306000_30306001insCC, NC_000021.8:g.30306000_30306001insCTC, NC_000021.8:g.30306000_30306001insCTCC, NW_025791813.1:g.24412_24413insC, NW_025791813.1:g.24412_24413insCC, NW_025791813.1:g.24412_24413insCTC, NW_025791813.1:g.24412_24413insCTCC
7.
rs1491091598 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 21:28931067
(GRCh38)
21:30303390
(GRCh37)
- Canonical SPDI:
- NC_000021.9:28931067:T:TT
- Gene:
- LTN1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000048/2
(GnomAD)
- HGVS:
8.
rs1491061733 has merged into rs34339110 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA,AAAAA,AAAAAA
[Show Flanks]
- Chromosome:
- 21:28988480
(GRCh38)
21:30360801
(GRCh37)
- Canonical SPDI:
- NC_000021.9:28988466:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000021.9:28988466:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000021.9:28988466:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000021.9:28988466:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000021.9:28988466:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000021.9:28988466:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
- Gene:
- LTN1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
NC_000021.9:g.28988480_28988482del, NC_000021.9:g.28988481_28988482del, NC_000021.9:g.28988482del, NC_000021.9:g.28988482dup, NC_000021.9:g.28988481_28988482dup, NC_000021.9:g.28988480_28988482dup, NC_000021.8:g.30360801_30360803del, NC_000021.8:g.30360802_30360803del, NC_000021.8:g.30360803del, NC_000021.8:g.30360803dup, NC_000021.8:g.30360802_30360803dup, NC_000021.8:g.30360801_30360803dup, NW_025791813.1:g.79214_79216del, NW_025791813.1:g.79215_79216del, NW_025791813.1:g.79216del, NW_025791813.1:g.79216dup, NW_025791813.1:g.79215_79216dup, NW_025791813.1:g.79214_79216dup
9.
rs1490953838 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 21:28980908
(GRCh38)
21:30353230
(GRCh37)
- Canonical SPDI:
- NC_000021.9:28980907:A:C,NC_000021.9:28980907:A:G
- Gene:
- LTN1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000021/3
(GnomAD)
- HGVS:
11.
rs1490910078 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 21:28964019
(GRCh38)
21:30336341
(GRCh37)
- Canonical SPDI:
- NC_000021.9:28964018:A:T
- Gene:
- LTN1 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000023/6
(TOPMED)
- HGVS:
13.
rs1490809903 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 21:28929873
(GRCh38)
21:30302195
(GRCh37)
- Canonical SPDI:
- NC_000021.9:28929872:C:T
- Gene:
- LTN1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS:
NC_000021.9:g.28929873C>T, NC_000021.8:g.30302195C>T, NW_025791813.1:g.20607C>T, NM_015565.3:c.*575G>A, NM_015565.2:c.*575G>A, NM_001320766.2:c.*575G>A, NM_001320766.1:c.*575G>A, XM_017028317.2:c.*575G>A, XM_017028317.1:c.*575G>A, XM_047440740.1:c.*575G>A, XM_047440742.1:c.*575G>A, XM_047440741.1:c.*575G>A
14.
rs1490677500 has merged into rs1555848864 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-,AA,AAA,AAAA,AAAAAAAAAA
[Show Flanks]
- Chromosome:
- 21:28988158
(GRCh38)
21:30360479
(GRCh37)
- Canonical SPDI:
- NC_000021.9:28988157:AA:A,NC_000021.9:28988157:AA:AAA,NC_000021.9:28988157:AA:AAAA,NC_000021.9:28988157:AA:AAAAA,NC_000021.9:28988157:AA:AAAAAAAAAAA
- Gene:
- LTN1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000021.9:g.28988159del, NC_000021.9:g.28988159dup, NC_000021.9:g.28988158_28988159dup, NC_000021.9:g.28988159_28988160insAAA, NC_000021.9:g.28988159_28988160insAAAAAAAAA, NC_000021.8:g.30360480del, NC_000021.8:g.30360480dup, NC_000021.8:g.30360479_30360480dup, NC_000021.8:g.30360480_30360481insAAA, NC_000021.8:g.30360480_30360481insAAAAAAAAA, NW_025791813.1:g.78893del, NW_025791813.1:g.78893dup, NW_025791813.1:g.78892_78893dup, NW_025791813.1:g.78893_78894insAAA, NW_025791813.1:g.78893_78894insAAAAAAAAA
15.
rs1490656790 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 21:28967811
(GRCh38)
21:30340133
(GRCh37)
- Canonical SPDI:
- NC_000021.9:28967810:T:C
- Gene:
- LTN1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.001242/23
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000136/19
(GnomAD)
C=0.005134/23
(Estonian)
T=0.5/1
(SGDP_PRJ)
- HGVS:
16.
rs1490585453 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 21:28954158
(GRCh38)
21:30326480
(GRCh37)
- Canonical SPDI:
- NC_000021.9:28954157:A:C
- Gene:
- LTN1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
17.
rs1490573503 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 21:28937234
(GRCh38)
21:30309556
(GRCh37)
- Canonical SPDI:
- NC_000021.9:28937233:C:T
- Gene:
- LTN1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
18.
rs1490551757 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 21:28984917
(GRCh38)
21:30357238
(GRCh37)
- Canonical SPDI:
- NC_000021.9:28984916:A:G
- Gene:
- LTN1 (Varview)
- Functional Consequence:
- synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
19.
rs1490457719 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 21:28948290
(GRCh38)
21:30320612
(GRCh37)
- Canonical SPDI:
- NC_000021.9:28948289:G:A,NC_000021.9:28948289:G:T
- Gene:
- LTN1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
T=0.00205/58
(TOMMO)
- HGVS:
20.
rs1490433259 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 21:28946345
(GRCh38)
21:30318667
(GRCh37)
- Canonical SPDI:
- NC_000021.9:28946344:A:T
- Gene:
- LTN1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000671/3
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000893/4
(Estonian)
- HGVS: