Links from Gene
Items: 1 to 20 of 1622
1.
rs1491574342 has merged into rs34031962 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 11:46176338
(GRCh38)
11:46197889
(GRCh37)
- Canonical SPDI:
- NC_000011.10:46176327:TTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000011.10:46176327:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000011.10:46176327:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:46176327:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:46176327:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:46176327:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:46176327:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:46176327:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:46176327:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:46176327:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000011.10:46176327:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:46176327:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LOC101928894 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000011.10:g.46176338_46176344del, NC_000011.10:g.46176340_46176344del, NC_000011.10:g.46176341_46176344del, NC_000011.10:g.46176342_46176344del, NC_000011.10:g.46176343_46176344del, NC_000011.10:g.46176344del, NC_000011.10:g.46176344dup, NC_000011.10:g.46176343_46176344dup, NC_000011.10:g.46176342_46176344dup, NC_000011.10:g.46176341_46176344dup, NC_000011.10:g.46176334_46176344dup, NC_000011.10:g.46176331_46176344dup, NC_000011.9:g.46197889_46197895del, NC_000011.9:g.46197891_46197895del, NC_000011.9:g.46197892_46197895del, NC_000011.9:g.46197893_46197895del, NC_000011.9:g.46197894_46197895del, NC_000011.9:g.46197895del, NC_000011.9:g.46197895dup, NC_000011.9:g.46197894_46197895dup, NC_000011.9:g.46197893_46197895dup, NC_000011.9:g.46197892_46197895dup, NC_000011.9:g.46197885_46197895dup, NC_000011.9:g.46197882_46197895dup
3.
rs1491549768 has merged into rs1491004821 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,AAAA
[Show Flanks]
- Chromosome:
- 11:46173186
(GRCh38)
11:46194737
(GRCh37)
- Canonical SPDI:
- NC_000011.10:46173184:AAA:A,NC_000011.10:46173184:AAA:AAAAA
- Gene:
- LOC101928894 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000369/6
(
ALFA)
-=0.00375/481
(GnomAD)
-=0.042294/163
(ALSPAC)
-=0.0774/287
(TWINSUK)
- HGVS:
4.
rs1491492395 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 11:46173143
(GRCh38)
11:46194695
(GRCh37)
- Canonical SPDI:
- NC_000011.10:46173143::C
- Gene:
- LOC101928894 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
C=0.00003/3
(GnomAD)
- HGVS:
5.
rs1491122034 has merged into rs34031962 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 11:46176338
(GRCh38)
11:46197889
(GRCh37)
- Canonical SPDI:
- NC_000011.10:46176327:TTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000011.10:46176327:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000011.10:46176327:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:46176327:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:46176327:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:46176327:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:46176327:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:46176327:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:46176327:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:46176327:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000011.10:46176327:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:46176327:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LOC101928894 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000011.10:g.46176338_46176344del, NC_000011.10:g.46176340_46176344del, NC_000011.10:g.46176341_46176344del, NC_000011.10:g.46176342_46176344del, NC_000011.10:g.46176343_46176344del, NC_000011.10:g.46176344del, NC_000011.10:g.46176344dup, NC_000011.10:g.46176343_46176344dup, NC_000011.10:g.46176342_46176344dup, NC_000011.10:g.46176341_46176344dup, NC_000011.10:g.46176334_46176344dup, NC_000011.10:g.46176331_46176344dup, NC_000011.9:g.46197889_46197895del, NC_000011.9:g.46197891_46197895del, NC_000011.9:g.46197892_46197895del, NC_000011.9:g.46197893_46197895del, NC_000011.9:g.46197894_46197895del, NC_000011.9:g.46197895del, NC_000011.9:g.46197895dup, NC_000011.9:g.46197894_46197895dup, NC_000011.9:g.46197893_46197895dup, NC_000011.9:g.46197892_46197895dup, NC_000011.9:g.46197885_46197895dup, NC_000011.9:g.46197882_46197895dup
6.
rs1491004821 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,AAAA
[Show Flanks]
- Chromosome:
- 11:46173186
(GRCh38)
11:46194737
(GRCh37)
- Canonical SPDI:
- NC_000011.10:46173184:AAA:A,NC_000011.10:46173184:AAA:AAAAA
- Gene:
- LOC101928894 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000369/6
(
ALFA)
-=0.00375/481
(GnomAD)
-=0.042294/163
(ALSPAC)
-=0.0774/287
(TWINSUK)
- HGVS:
7.
rs1490767933 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:46174379
(GRCh38)
11:46195930
(GRCh37)
- Canonical SPDI:
- NC_000011.10:46174378:C:T
- Gene:
- LOC101928894 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
8.
rs1489903623 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 11:46169963
(GRCh38)
11:46191514
(GRCh37)
- Canonical SPDI:
- NC_000011.10:46169962:A:T
- Gene:
- LOC101928894 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000019/5
(TOPMED)
- HGVS:
9.
rs1489223063 has merged into rs139991688 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT
[Show Flanks]
- Chromosome:
- 11:46170562
(GRCh38)
11:46192113
(GRCh37)
- Canonical SPDI:
- NC_000011.10:46170550:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000011.10:46170550:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000011.10:46170550:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:46170550:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:46170550:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:46170550:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:46170550:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
- Gene:
- LOC101928894 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
TT=0.0679/340
(1000Genomes)
- HGVS:
NC_000011.10:g.46170562_46170567del, NC_000011.10:g.46170563_46170567del, NC_000011.10:g.46170564_46170567del, NC_000011.10:g.46170565_46170567del, NC_000011.10:g.46170566_46170567del, NC_000011.10:g.46170567del, NC_000011.10:g.46170567dup, NC_000011.9:g.46192113_46192118del, NC_000011.9:g.46192114_46192118del, NC_000011.9:g.46192115_46192118del, NC_000011.9:g.46192116_46192118del, NC_000011.9:g.46192117_46192118del, NC_000011.9:g.46192118del, NC_000011.9:g.46192118dup
10.
rs1489021024 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:46175788
(GRCh38)
11:46197339
(GRCh37)
- Canonical SPDI:
- NC_000011.10:46175787:T:C
- Gene:
- LOC101928894 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
11.
rs1488272772 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 11:46172119
(GRCh38)
11:46193670
(GRCh37)
- Canonical SPDI:
- NC_000011.10:46172118:CT:
- Gene:
- LOC101928894 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
12.
rs1487408123 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:46177179
(GRCh38)
11:46198730
(GRCh37)
- Canonical SPDI:
- NC_000011.10:46177178:C:T
- Gene:
- LOC101928894 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
13.
rs1487288874 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:46172678
(GRCh38)
11:46194229
(GRCh37)
- Canonical SPDI:
- NC_000011.10:46172677:G:A
- Gene:
- LOC101928894 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
14.
rs1487288374 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:46174113
(GRCh38)
11:46195664
(GRCh37)
- Canonical SPDI:
- NC_000011.10:46174112:T:C
- Gene:
- LOC101928894 (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:
16.
rs1486248840 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 11:46172001
(GRCh38)
11:46193552
(GRCh37)
- Canonical SPDI:
- NC_000011.10:46172000:A:T
- Gene:
- LOC101928894 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
18.
rs1484721045 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:46170429
(GRCh38)
11:46191980
(GRCh37)
- Canonical SPDI:
- NC_000011.10:46170428:T:C
- Gene:
- LOC101928894 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_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:
19.
rs1483882032 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 11:46177315
(GRCh38)
11:46198866
(GRCh37)
- Canonical SPDI:
- NC_000011.10:46177314:C:G
- Gene:
- LOC101928894 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
20.
rs1481928478 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:46172509
(GRCh38)
11:46194060
(GRCh37)
- Canonical SPDI:
- NC_000011.10:46172508:A:G
- Gene:
- LOC101928894 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000029/4
(GnomAD)
- HGVS: