Links from Gene
Items: 1 to 20 of 4615
1.
rs1490835014 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:230889241
(GRCh38)
2:231753956
(GRCh37)
- Canonical SPDI:
- NC_000002.12:230889240:A:G
- Gene:
- GCSIR (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:
2.
rs1490817896 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:230890206
(GRCh38)
2:231754921
(GRCh37)
- Canonical SPDI:
- NC_000002.12:230890205:C:T
- Gene:
- GCSIR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
T=0.000035/1
(TOMMO)
- HGVS:
3.
rs1490682643 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:230904591
(GRCh38)
2:231769306
(GRCh37)
- Canonical SPDI:
- NC_000002.12:230904590:C:T
- Gene:
- GCSIR (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_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:
4.
rs1490567419 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 2:230900751
(GRCh38)
2:231765466
(GRCh37)
- Canonical SPDI:
- NC_000002.12:230900750:G:A,NC_000002.12:230900750:G:T
- Gene:
- GCSIR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
5.
rs1490451303 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:230897352
(GRCh38)
2:231762067
(GRCh37)
- Canonical SPDI:
- NC_000002.12:230897351:G:A
- Gene:
- GCSIR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
6.
rs1489888891 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:230903233
(GRCh38)
2:231767948
(GRCh37)
- Canonical SPDI:
- NC_000002.12:230903232:A:G
- Gene:
- GCSIR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.00003/8
(TOPMED)
- HGVS:
7.
rs1489863255 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 2:230904155
(GRCh38)
2:231768870
(GRCh37)
- Canonical SPDI:
- NC_000002.12:230904154:T:G
- Gene:
- GCSIR (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.
rs1489784888 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 2:230897920
(GRCh38)
2:231762635
(GRCh37)
- Canonical SPDI:
- NC_000002.12:230897919:A:T
- Gene:
- GCSIR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
9.
rs1489732028 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:230898892
(GRCh38)
2:231763607
(GRCh37)
- Canonical SPDI:
- NC_000002.12:230898891:A:G
- Gene:
- GCSIR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
10.
rs1489595037 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:230901452
(GRCh38)
2:231766167
(GRCh37)
- Canonical SPDI:
- NC_000002.12:230901451:T:C
- Gene:
- GCSIR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
11.
rs1489332939 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 2:230902433
(GRCh38)
2:231767149
(GRCh37)
- Canonical SPDI:
- NC_000002.12:230902433:A:AA
- Gene:
- GCSIR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AA=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
12.
rs1488643080 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 2:230900216
(GRCh38)
2:231764931
(GRCh37)
- Canonical SPDI:
- NC_000002.12:230900215:C:A
- Gene:
- GCSIR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
13.
rs1488449015 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:230893889
(GRCh38)
2:231758604
(GRCh37)
- Canonical SPDI:
- NC_000002.12:230893888:G:A
- Gene:
- GCSIR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS:
14.
rs1488296306 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:230903790
(GRCh38)
2:231768505
(GRCh37)
- Canonical SPDI:
- NC_000002.12:230903789:A:G
- Gene:
- GCSIR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000015/4
(TOPMED)
- HGVS:
15.
rs1488069904 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:230898935
(GRCh38)
2:231763650
(GRCh37)
- Canonical SPDI:
- NC_000002.12:230898934:T:C
- Gene:
- GCSIR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.000546/1
(Korea1K)
- HGVS:
16.
rs1488035971 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:230896580
(GRCh38)
2:231761295
(GRCh37)
- Canonical SPDI:
- NC_000002.12:230896579:G:A
- Gene:
- GCSIR (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
17.
rs1487725780 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 2:230885726
(GRCh38)
2:231750441
(GRCh37)
- Canonical SPDI:
- NC_000002.12:230885725:T:C,NC_000002.12:230885725:T:G
- Gene:
- GCSIR (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
18.
rs1487321001 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 2:230893893
(GRCh38)
2:231758608
(GRCh37)
- Canonical SPDI:
- NC_000002.12:230893892:C:G
- Gene:
- GCSIR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
19.
rs1486669521 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:230893192
(GRCh38)
2:231757907
(GRCh37)
- Canonical SPDI:
- NC_000002.12:230893191:C:T
- Gene:
- GCSIR (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: