Links from Gene
Items: 1 to 20 of 1501
2.
rs1491312322 has merged into rs1158987417 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 3:130152910
(GRCh38)
3:129871753
(GRCh37)
- Canonical SPDI:
- NC_000003.12:130152901:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000003.12:130152901:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:130152901:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:130152901:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:130152901:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:130152901:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:130152901:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:130152901:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:130152901:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:130152901:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:130152901:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:130152901:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:130152901:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:130152901:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:130152901:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:130152901:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:130152901:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:130152901:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:130152901:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:130152901:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:130152901:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:130152901:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:130152901:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:130152901:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:130152901:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:130152901:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:130152901:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:130152901:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:130152901:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:130152901:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:130152901:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:130152901:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:130152901:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:130152901:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:130152901:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LOC107986131 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000003.12:g.130152910_130152923del, NC_000003.12:g.130152912_130152923del, NC_000003.12:g.130152913_130152923del, NC_000003.12:g.130152914_130152923del, NC_000003.12:g.130152915_130152923del, NC_000003.12:g.130152916_130152923del, NC_000003.12:g.130152917_130152923del, NC_000003.12:g.130152918_130152923del, NC_000003.12:g.130152919_130152923del, NC_000003.12:g.130152920_130152923del, NC_000003.12:g.130152921_130152923del, NC_000003.12:g.130152922_130152923del, NC_000003.12:g.130152923del, NC_000003.12:g.130152923dup, NC_000003.12:g.130152922_130152923dup, NC_000003.12:g.130152921_130152923dup, NC_000003.12:g.130152920_130152923dup, NC_000003.12:g.130152919_130152923dup, NC_000003.12:g.130152918_130152923dup, NC_000003.12:g.130152917_130152923dup, NC_000003.12:g.130152916_130152923dup, NC_000003.12:g.130152915_130152923dup, NC_000003.12:g.130152914_130152923dup, NC_000003.12:g.130152913_130152923dup, NC_000003.12:g.130152912_130152923dup, NC_000003.12:g.130152911_130152923dup, NC_000003.12:g.130152910_130152923dup, NC_000003.12:g.130152909_130152923dup, NC_000003.12:g.130152908_130152923dup, NC_000003.12:g.130152907_130152923dup, NC_000003.12:g.130152905_130152923dup, NC_000003.12:g.130152904_130152923dup, NC_000003.12:g.130152903_130152923dup, NC_000003.12:g.130152923_130152924insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.130152923_130152924insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.129871753_129871766del, NC_000003.11:g.129871755_129871766del, NC_000003.11:g.129871756_129871766del, NC_000003.11:g.129871757_129871766del, NC_000003.11:g.129871758_129871766del, NC_000003.11:g.129871759_129871766del, NC_000003.11:g.129871760_129871766del, NC_000003.11:g.129871761_129871766del, NC_000003.11:g.129871762_129871766del, NC_000003.11:g.129871763_129871766del, NC_000003.11:g.129871764_129871766del, NC_000003.11:g.129871765_129871766del, NC_000003.11:g.129871766del, NC_000003.11:g.129871766dup, NC_000003.11:g.129871765_129871766dup, NC_000003.11:g.129871764_129871766dup, NC_000003.11:g.129871763_129871766dup, NC_000003.11:g.129871762_129871766dup, NC_000003.11:g.129871761_129871766dup, NC_000003.11:g.129871760_129871766dup, NC_000003.11:g.129871759_129871766dup, NC_000003.11:g.129871758_129871766dup, NC_000003.11:g.129871757_129871766dup, NC_000003.11:g.129871756_129871766dup, NC_000003.11:g.129871755_129871766dup, NC_000003.11:g.129871754_129871766dup, NC_000003.11:g.129871753_129871766dup, NC_000003.11:g.129871752_129871766dup, NC_000003.11:g.129871751_129871766dup, NC_000003.11:g.129871750_129871766dup, NC_000003.11:g.129871748_129871766dup, NC_000003.11:g.129871747_129871766dup, NC_000003.11:g.129871746_129871766dup, NC_000003.11:g.129871766_129871767insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.129871766_129871767insTTTTTTTTTTTTTTTTTTTTTTTTT
3.
rs1490513549 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 3:130151843
(GRCh38)
3:129870686
(GRCh37)
- Canonical SPDI:
- NC_000003.12:130151842:G:C
- Gene:
- LOC107986131 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000021/3
(GnomAD)
- HGVS:
4.
rs1490382852 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 3:130154633
(GRCh38)
3:129873476
(GRCh37)
- Canonical SPDI:
- NC_000003.12:130154632:G:C
- Gene:
- LOC107986131 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
5.
rs1490367837 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 3:130153881
(GRCh38)
3:129872724
(GRCh37)
- Canonical SPDI:
- NC_000003.12:130153880:T:C
- Gene:
- LOC107986131 (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:
6.
rs1490215738 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 3:130154299
(GRCh38)
3:129873142
(GRCh37)
- Canonical SPDI:
- NC_000003.12:130154298:G:T
- Gene:
- LOC107986131 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
7.
rs1490200018 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 3:130153543
(GRCh38)
3:129872386
(GRCh37)
- Canonical SPDI:
- NC_000003.12:130153542:G:T
- Gene:
- LOC107986131 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
8.
rs1489755623 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:130155446
(GRCh38)
3:129874289
(GRCh37)
- Canonical SPDI:
- NC_000003.12:130155445:C:T
- Gene:
- LOC107986131 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
9.
rs1488344820 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 3:130152303
(GRCh38)
3:129871146
(GRCh37)
- Canonical SPDI:
- NC_000003.12:130152302:C:A
- Gene:
- LOC107986131 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
10.
rs1487705336 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:130154653
(GRCh38)
3:129873496
(GRCh37)
- Canonical SPDI:
- NC_000003.12:130154652:C:T
- Gene:
- LOC107986131 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
- HGVS:
11.
rs1486866549 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:130151745
(GRCh38)
3:129870588
(GRCh37)
- Canonical SPDI:
- NC_000003.12:130151744:G:A
- Gene:
- LOC107986131 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
12.
rs1486575665 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G,T
[Show Flanks]
- Chromosome:
- 3:130151848
(GRCh38)
3:129870691
(GRCh37)
- Canonical SPDI:
- NC_000003.12:130151847:C:A,NC_000003.12:130151847:C:G,NC_000003.12:130151847:C:T
- Gene:
- LOC107986131 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
14.
rs1486275264 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 3:130155159
(GRCh38)
3:129874002
(GRCh37)
- Canonical SPDI:
- NC_000003.12:130155158:C:G,NC_000003.12:130155158:C:T
- Gene:
- LOC107986131 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000054/1
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
15.
rs1485229630 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:130151373
(GRCh38)
3:129870216
(GRCh37)
- Canonical SPDI:
- NC_000003.12:130151372:G:A
- Gene:
- LOC107986131 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
16.
rs1484644589 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:130154459
(GRCh38)
3:129873302
(GRCh37)
- Canonical SPDI:
- NC_000003.12:130154458:C:T
- Gene:
- LOC107986131 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000036/5
(GnomAD)
- HGVS:
17.
rs1484348369 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:130152816
(GRCh38)
3:129871659
(GRCh37)
- Canonical SPDI:
- NC_000003.12:130152815:G:A
- Gene:
- LOC107986131 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000043/6
(GnomAD)
- HGVS:
18.
rs1484290129 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:130152983
(GRCh38)
3:129871826
(GRCh37)
- Canonical SPDI:
- NC_000003.12:130152982:C:T
- Gene:
- LOC107986131 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/1
(GnomAD)
- HGVS:
19.
rs1484132579 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 3:130154445
(GRCh38)
3:129873288
(GRCh37)
- Canonical SPDI:
- NC_000003.12:130154444:G:C,NC_000003.12:130154444:G:T
- Gene:
- LOC107986131 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
20.
rs1483671698 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 3:130156083
(GRCh38)
3:129874926
(GRCh37)
- Canonical SPDI:
- NC_000003.12:130156082:T:C
- Gene:
- LOC107986131 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000014/2
(GnomAD)
C=0.000035/1
(TOMMO)
- HGVS: