Links from Gene
Items: 1 to 20 of 1000
2.
rs1491508421 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 1:87339239
(GRCh38)
1:87804923
(GRCh37)
- Canonical SPDI:
- NC_000001.11:87339239:A:AA
- Gene:
- LMO4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AA=0./0
(
ALFA)
A=0.000022/3
(GnomAD)
- HGVS:
3.
rs1491453844 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CTT
[Show Flanks]
- Chromosome:
- 1:87330005
(GRCh38)
1:87795689
(GRCh37)
- Canonical SPDI:
- NC_000001.11:87330005:TT:TTCTT
- Gene:
- LMO4 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTCTT=0.00017/2
(
ALFA)
TTC=0.00007/7
(GnomAD)
- HGVS:
4.
rs1491446937 has merged into rs143075026 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GGGGG>-,GG,GGG,GGGG,GGGGGG,GGGGGGG,GGGGGGGG
[Show Flanks]
- Chromosome:
- 1:87335043
(GRCh38)
1:87800726
(GRCh37)
- Canonical SPDI:
- NC_000001.11:87335037:GGGGGGGGGG:GGGGG,NC_000001.11:87335037:GGGGGGGGGG:GGGGGGG,NC_000001.11:87335037:GGGGGGGGGG:GGGGGGGG,NC_000001.11:87335037:GGGGGGGGGG:GGGGGGGGG,NC_000001.11:87335037:GGGGGGGGGG:GGGGGGGGGGG,NC_000001.11:87335037:GGGGGGGGGG:GGGGGGGGGGGG,NC_000001.11:87335037:GGGGGGGGGG:GGGGGGGGGGGGG
- Gene:
- LMO4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGGGGG=0./0
(
ALFA)
-=0.11054/451
(1000Genomes)
- HGVS:
NC_000001.11:g.87335043_87335047del, NC_000001.11:g.87335045_87335047del, NC_000001.11:g.87335046_87335047del, NC_000001.11:g.87335047del, NC_000001.11:g.87335047dup, NC_000001.11:g.87335046_87335047dup, NC_000001.11:g.87335045_87335047dup, NC_000001.10:g.87800726_87800730del, NC_000001.10:g.87800728_87800730del, NC_000001.10:g.87800729_87800730del, NC_000001.10:g.87800730del, NC_000001.10:g.87800730dup, NC_000001.10:g.87800729_87800730dup, NC_000001.10:g.87800728_87800730dup
6.
rs1491365690 has merged into rs397949898 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CCCCCCCCCCC>-,CC,CCCC,CCCCCCC,CCCCCCCC,CCCCCCCCC,CCCCCCCCCC,CCCCCCCCCCCC,CCCCCCCCCCCCC,CCCCCCCCCCCCCC,CCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCC
[Show Flanks]
- Chromosome:
- 1:87331069
(GRCh38)
1:87796752
(GRCh37)
- Canonical SPDI:
- NC_000001.11:87331063:CCCCCCCCCCCCCCCC:CCCCC,NC_000001.11:87331063:CCCCCCCCCCCCCCCC:CCCCCCC,NC_000001.11:87331063:CCCCCCCCCCCCCCCC:CCCCCCCCC,NC_000001.11:87331063:CCCCCCCCCCCCCCCC:CCCCCCCCCCCC,NC_000001.11:87331063:CCCCCCCCCCCCCCCC:CCCCCCCCCCCCC,NC_000001.11:87331063:CCCCCCCCCCCCCCCC:CCCCCCCCCCCCCC,NC_000001.11:87331063:CCCCCCCCCCCCCCCC:CCCCCCCCCCCCCCC,NC_000001.11:87331063:CCCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCC,NC_000001.11:87331063:CCCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCC,NC_000001.11:87331063:CCCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCC,NC_000001.11:87331063:CCCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCC,NC_000001.11:87331063:CCCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCC,NC_000001.11:87331063:CCCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCC
- Gene:
- LMO4 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCCCCC=0./0
(
ALFA)
-=0.2/14
(NorthernSweden)
- HGVS:
NC_000001.11:g.87331069_87331079del, NC_000001.11:g.87331071_87331079del, NC_000001.11:g.87331073_87331079del, NC_000001.11:g.87331076_87331079del, NC_000001.11:g.87331077_87331079del, NC_000001.11:g.87331078_87331079del, NC_000001.11:g.87331079del, NC_000001.11:g.87331079dup, NC_000001.11:g.87331078_87331079dup, NC_000001.11:g.87331077_87331079dup, NC_000001.11:g.87331076_87331079dup, NC_000001.11:g.87331075_87331079dup, NC_000001.11:g.87331073_87331079dup, NC_000001.10:g.87796752_87796762del, NC_000001.10:g.87796754_87796762del, NC_000001.10:g.87796756_87796762del, NC_000001.10:g.87796759_87796762del, NC_000001.10:g.87796760_87796762del, NC_000001.10:g.87796761_87796762del, NC_000001.10:g.87796762del, NC_000001.10:g.87796762dup, NC_000001.10:g.87796761_87796762dup, NC_000001.10:g.87796760_87796762dup, NC_000001.10:g.87796759_87796762dup, NC_000001.10:g.87796758_87796762dup, NC_000001.10:g.87796756_87796762dup, NG_053401.1:g.1661_1671del, NG_053401.1:g.1663_1671del, NG_053401.1:g.1665_1671del, NG_053401.1:g.1668_1671del, NG_053401.1:g.1669_1671del, NG_053401.1:g.1670_1671del, NG_053401.1:g.1671del, NG_053401.1:g.1671dup, NG_053401.1:g.1670_1671dup, NG_053401.1:g.1669_1671dup, NG_053401.1:g.1668_1671dup, NG_053401.1:g.1667_1671dup, NG_053401.1:g.1665_1671dup
7.
rs1491287419 has merged into rs895271767 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 1:87330012
(GRCh38)
1:87795695
(GRCh37)
- Canonical SPDI:
- NC_000001.11:87330004:TTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000001.11:87330004:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:87330004:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:87330004:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:87330004:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:87330004:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:87330004:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:87330004:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:87330004:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:87330004:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:87330004:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:87330004:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:87330004:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:87330004:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LMO4 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000001.11:g.87330012_87330022del, NC_000001.11:g.87330015_87330022del, NC_000001.11:g.87330016_87330022del, NC_000001.11:g.87330017_87330022del, NC_000001.11:g.87330018_87330022del, NC_000001.11:g.87330019_87330022del, NC_000001.11:g.87330020_87330022del, NC_000001.11:g.87330021_87330022del, NC_000001.11:g.87330022del, NC_000001.11:g.87330022dup, NC_000001.11:g.87330021_87330022dup, NC_000001.11:g.87330020_87330022dup, NC_000001.11:g.87330019_87330022dup, NC_000001.11:g.87330017_87330022dup, NC_000001.10:g.87795695_87795705del, NC_000001.10:g.87795698_87795705del, NC_000001.10:g.87795699_87795705del, NC_000001.10:g.87795700_87795705del, NC_000001.10:g.87795701_87795705del, NC_000001.10:g.87795702_87795705del, NC_000001.10:g.87795703_87795705del, NC_000001.10:g.87795704_87795705del, NC_000001.10:g.87795705del, NC_000001.10:g.87795705dup, NC_000001.10:g.87795704_87795705dup, NC_000001.10:g.87795703_87795705dup, NC_000001.10:g.87795702_87795705dup, NC_000001.10:g.87795700_87795705dup, NG_053401.1:g.604_614del, NG_053401.1:g.607_614del, NG_053401.1:g.608_614del, NG_053401.1:g.609_614del, NG_053401.1:g.610_614del, NG_053401.1:g.611_614del, NG_053401.1:g.612_614del, NG_053401.1:g.613_614del, NG_053401.1:g.614del, NG_053401.1:g.614dup, NG_053401.1:g.613_614dup, NG_053401.1:g.612_614dup, NG_053401.1:g.611_614dup, NG_053401.1:g.609_614dup
9.
rs1491166109 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 1:87333956
(GRCh38)
1:87799639
(GRCh37)
- Canonical SPDI:
- NC_000001.11:87333954:ACA:A
- Gene:
- LMO4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
-=0.000043/6
(GnomAD)
- HGVS:
10.
rs1490911743 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 1:87327129
(GRCh38)
1:87792812
(GRCh37)
- Canonical SPDI:
- NC_000001.11:87327128:A:T
- Gene:
- LMO4 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
12.
rs1490842981 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G,T
[Show Flanks]
- Chromosome:
- 1:87338107
(GRCh38)
1:87803790
(GRCh37)
- Canonical SPDI:
- NC_000001.11:87338106:C:A,NC_000001.11:87338106:C:G,NC_000001.11:87338106:C:T
- Gene:
- LMO4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
13.
rs1490831810 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 1:87333027
(GRCh38)
1:87798710
(GRCh37)
- Canonical SPDI:
- NC_000001.11:87333026:G:C
- Gene:
- LMO4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
14.
rs1490606267 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:87326682
(GRCh38)
1:87792365
(GRCh37)
- Canonical SPDI:
- NC_000001.11:87326681:T:C
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
15.
rs1490568506 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:87332834
(GRCh38)
1:87798517
(GRCh37)
- Canonical SPDI:
- NC_000001.11:87332833:A:G
- Gene:
- LMO4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000895/4
(
ALFA)
G=0.000021/3
(GnomAD)
G=0.000035/1
(TOMMO)
G=0.000893/4
(Estonian)
- HGVS:
16.
rs1490355206 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:87328472
(GRCh38)
1:87794155
(GRCh37)
- Canonical SPDI:
- NC_000001.11:87328471:T:C
- Gene:
- LMO4 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
17.
rs1490354325 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 1:87349112
(GRCh38)
1:87814795
(GRCh37)
- Canonical SPDI:
- NC_000001.11:87349111:G:C
- Gene:
- LMO4 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
18.
rs1490352928 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:87338487
(GRCh38)
1:87804170
(GRCh37)
- Canonical SPDI:
- NC_000001.11:87338486:T:C
- Gene:
- LMO4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000011/3
(TOPMED)
- HGVS:
19.
rs1490278462 has merged into rs372002864 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATA>-
[Show Flanks]
- Chromosome:
- 1:87346767
(GRCh38)
1:87812450
(GRCh37)
- Canonical SPDI:
- NC_000001.11:87346762:AATAATA:AATA
- Gene:
- LMO4 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AATA=0./0
(
ALFA)
-=0.000021/3
(GnomAD)
-=0.000023/6
(TOPMED)
- HGVS:
20.
rs1490077270 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 1:87331694
(GRCh38)
1:87797377
(GRCh37)
- Canonical SPDI:
- NC_000001.11:87331693:G:C,NC_000001.11:87331693:G:T
- Gene:
- LMO4 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS: