Links from Gene
Items: 1 to 20 of 1000
1.
rs1491545115 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 13:45108286
(GRCh38)
13:45682421
(GRCh37)
- Canonical SPDI:
- NC_000013.11:45108284:TCT:T
- Gene:
- LOC101929259 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
2.
rs1491239408 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 13:45108285
(GRCh38)
13:45682421
(GRCh37)
- Canonical SPDI:
- NC_000013.11:45108285:C:CC
- Gene:
- LOC101929259 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CC=0./0
(
ALFA)
C=0.000015/2
(GnomAD)
- HGVS:
4.
rs1490768155 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 13:45111661
(GRCh38)
13:45685796
(GRCh37)
- Canonical SPDI:
- NC_000013.11:45111660:A:G
- Gene:
- LOC101929259 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000086/12
(GnomAD)
- HGVS:
5.
rs1490732030 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 13:45111828
(GRCh38)
13:45685963
(GRCh37)
- Canonical SPDI:
- NC_000013.11:45111827:C:A
- Gene:
- LOC101929259 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000019/5
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
6.
rs1490716259 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ACC>-
[Show Flanks]
- Chromosome:
- 13:45109618
(GRCh38)
13:45683753
(GRCh37)
- Canonical SPDI:
- NC_000013.11:45109614:ACCACC:ACC
- Gene:
- LOC101929259 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACCACC=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
7.
rs1490520461 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 13:45111573
(GRCh38)
13:45685708
(GRCh37)
- Canonical SPDI:
- NC_000013.11:45111572:C:T
- Gene:
- LOC101929259 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
8.
rs1489913740 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 13:45110733
(GRCh38)
13:45684868
(GRCh37)
- Canonical SPDI:
- NC_000013.11:45110732:A:G
- Gene:
- LOC101929259 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
G=0.000007/1
(GnomAD)
- HGVS:
9.
rs1489343837 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 13:45106261
(GRCh38)
13:45680396
(GRCh37)
- Canonical SPDI:
- NC_000013.11:45106260:G:A
- Gene:
- LOC101929259 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
10.
rs1489240655 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 13:45113704
(GRCh38)
13:45687839
(GRCh37)
- Canonical SPDI:
- NC_000013.11:45113703:C:G,NC_000013.11:45113703:C:T
- Gene:
- LOC101929259 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
11.
rs1489097214 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 13:45112568
(GRCh38)
13:45686703
(GRCh37)
- Canonical SPDI:
- NC_000013.11:45112567:G:A,NC_000013.11:45112567:G:T
- Gene:
- LOC101929259 (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)
G=0.5/1
(SGDP_PRJ)
- HGVS:
12.
rs1488964028 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 13:45112853
(GRCh38)
13:45686988
(GRCh37)
- Canonical SPDI:
- NC_000013.11:45112852:G:T
- Gene:
- LOC101929259 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
13.
rs1488652008 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 13:45109612
(GRCh38)
13:45683747
(GRCh37)
- Canonical SPDI:
- NC_000013.11:45109611:G:T
- Gene:
- LOC101929259 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
14.
rs1488578696 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CTTATT>-
[Show Flanks]
- Chromosome:
- 13:45105668
(GRCh38)
13:45679803
(GRCh37)
- Canonical SPDI:
- NC_000013.11:45105665:TTCTTATT:TT
- Gene:
- LOC101929259 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0.000071/1
(
ALFA)
-=0.000011/3
(TOPMED)
-=0.000022/3
(GnomAD)
- HGVS:
15.
rs1488475477 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 13:45105961
(GRCh38)
13:45680096
(GRCh37)
- Canonical SPDI:
- NC_000013.11:45105960:C:T
- Gene:
- LOC101929259 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
16.
rs1488372423 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 13:45107416
(GRCh38)
13:45681551
(GRCh37)
- Canonical SPDI:
- NC_000013.11:45107415:G:A
- Gene:
- LOC101929259 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
- HGVS:
17.
rs1488003209 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 13:45110522
(GRCh38)
13:45684657
(GRCh37)
- Canonical SPDI:
- NC_000013.11:45110521:T:
- Gene:
- LOC101929259 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
19.
rs1487835008 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 13:45106932
(GRCh38)
13:45681067
(GRCh37)
- Canonical SPDI:
- NC_000013.11:45106931:C:G
- Gene:
- LOC101929259 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
20.
rs1487281313 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 13:45111007
(GRCh38)
13:45685142
(GRCh37)
- Canonical SPDI:
- NC_000013.11:45111006:A:T
- Gene:
- LOC101929259 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS: