Links from Gene
Items: 1 to 20 of 2161
1.
rs1490030078 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:9105978
(GRCh38)
2:9246107
(GRCh37)
- Canonical SPDI:
- NC_000002.12:9105977:C:T
- Gene:
- LOC105373414 (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:
2.
rs1489619162 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:9104555
(GRCh38)
2:9244684
(GRCh37)
- Canonical SPDI:
- NC_000002.12:9104554:A:G
- Gene:
- LOC105373414 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
3.
rs1488777231 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 2:9101454
(GRCh38)
2:9241583
(GRCh37)
- Canonical SPDI:
- NC_000002.12:9101453:G:A,NC_000002.12:9101453:G:T
- Gene:
- LOC105373414 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
5.
rs1488492940 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:9107489
(GRCh38)
2:9247618
(GRCh37)
- Canonical SPDI:
- NC_000002.12:9107488:C:T
- Gene:
- LOC105373414 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000021/3
(GnomAD)
- HGVS:
6.
rs1488021623 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 2:9104818
(GRCh38)
2:9244947
(GRCh37)
- Canonical SPDI:
- NC_000002.12:9104817:C:G
- Gene:
- LOC105373414 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
8.
rs1487641670 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:9108855
(GRCh38)
2:9248984
(GRCh37)
- Canonical SPDI:
- NC_000002.12:9108854:G:A
- Gene:
- LOC105373414 (Varview), LOC105373416 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
9.
rs1487474561 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:9109834
(GRCh38)
2:9249963
(GRCh37)
- Canonical SPDI:
- NC_000002.12:9109833:G:A
- Gene:
- LOC105373414 (Varview), LOC105373416 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000132/2
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000446/2
(Estonian)
- HGVS:
10.
rs1487272137 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:9100734
(GRCh38)
2:9240863
(GRCh37)
- Canonical SPDI:
- NC_000002.12:9100733:C:T
- Gene:
- LOC105373414 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
11.
rs1487096796 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:9104197
(GRCh38)
2:9244326
(GRCh37)
- Canonical SPDI:
- NC_000002.12:9104196:T:C
- Gene:
- LOC105373414 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
12.
rs1487080916 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 2:9110018
(GRCh38)
2:9250147
(GRCh37)
- Canonical SPDI:
- NC_000002.12:9110017:C:A,NC_000002.12:9110017:C:T
- Gene:
- LOC105373414 (Varview), LOC105373416 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000021/3
(GnomAD)
- HGVS:
13.
rs1487026212 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:9105251
(GRCh38)
2:9245380
(GRCh37)
- Canonical SPDI:
- NC_000002.12:9105250:T:C
- Gene:
- LOC105373414 (Varview)
- Functional Consequence:
- non_coding_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:
14.
rs1486549523 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:9100825
(GRCh38)
2:9240954
(GRCh37)
- Canonical SPDI:
- NC_000002.12:9100824:G:A
- Gene:
- LOC105373414 (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:
15.
rs1486033003 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:9108522
(GRCh38)
2:9248651
(GRCh37)
- Canonical SPDI:
- NC_000002.12:9108521:T:C
- Gene:
- LOC105373414 (Varview), LOC105373416 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
16.
rs1485501887 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CTTACCGGCC>-
[Show Flanks]
- Chromosome:
- 2:9105756
(GRCh38)
2:9245885
(GRCh37)
- Canonical SPDI:
- NC_000002.12:9105752:GCCCTTACCGGCC:GCC
- Gene:
- LOC105373414 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GCC=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000008/2
(TOPMED)
- HGVS:
17.
rs1485237712 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 2:9105636
(GRCh38)
2:9245765
(GRCh37)
- Canonical SPDI:
- NC_000002.12:9105635:C:A
- Gene:
- LOC105373414 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.00003/8
(TOPMED)
A=0.000342/1
(KOREAN)
- HGVS:
18.
rs1485210070 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:9110170
(GRCh38)
2:9250299
(GRCh37)
- Canonical SPDI:
- NC_000002.12:9110169:T:C
- Gene:
- LOC105373414 (Varview), LOC105373416 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant,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.
rs1484440156 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 2:9105792
(GRCh38)
2:9245921
(GRCh37)
- Canonical SPDI:
- NC_000002.12:9105790:TTT:T
- Gene:
- LOC105373414 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
-=0.00005/7
(GnomAD)
-=0.000072/19
(TOPMED)
- HGVS:
20.
rs1484167138 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 2:9101522
(GRCh38)
2:9241651
(GRCh37)
- Canonical SPDI:
- NC_000002.12:9101521:A:T
- Gene:
- LOC105373414 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS: