Links from Gene
Items: 1 to 20 of 1029
1.
rs1490885482 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:95667392
(GRCh38)
2:96333140
(GRCh37)
- Canonical SPDI:
- NC_000002.12:95667391:T:C
- Gene:
- LOC101926959 (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:
2.
rs1490452971 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:95664113
(GRCh38)
2:96329861
(GRCh37)
- Canonical SPDI:
- NC_000002.12:95664112:C:T
- Gene:
- LOC101926959 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000034/9
(TOPMED)
T=0.000057/8
(GnomAD)
- HGVS:
3.
rs1489761238 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 2:95663895
(GRCh38)
2:96329643
(GRCh37)
- Canonical SPDI:
- NC_000002.12:95663894:G:A,NC_000002.12:95663894:G:C
- Gene:
- LOC101926959 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
4.
rs1489751493 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CTT>-
[Show Flanks]
- Chromosome:
- 2:95665128
(GRCh38)
2:96330876
(GRCh37)
- Canonical SPDI:
- NC_000002.12:95665125:TTCTT:TT
- Gene:
- LOC101926959 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000011/3
(TOPMED)
- HGVS:
5.
rs1488700735 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 2:95668281
(GRCh38)
2:96334029
(GRCh37)
- Canonical SPDI:
- NC_000002.12:95668280:A:T
- Gene:
- LOC101926959 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000023/6
(TOPMED)
- HGVS:
6.
rs1486924453 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 2:95666967
(GRCh38)
2:96332715
(GRCh37)
- Canonical SPDI:
- NC_000002.12:95666966:A:T
- Gene:
- LOC101926959 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
7.
rs1486872421 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:95664152
(GRCh38)
2:96329900
(GRCh37)
- Canonical SPDI:
- NC_000002.12:95664151:C:T
- Gene:
- LOC101926959 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_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.
rs1486341184 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:95663685
(GRCh38)
2:96329433
(GRCh37)
- Canonical SPDI:
- NC_000002.12:95663684:C:T
- Gene:
- LOC101926959 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
9.
rs1486259500 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 2:95667377
(GRCh38)
2:96333125
(GRCh37)
- Canonical SPDI:
- NC_000002.12:95667376:T:G
- Gene:
- LOC101926959 (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:
10.
rs1485792329 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:95667252
(GRCh38)
2:96333000
(GRCh37)
- Canonical SPDI:
- NC_000002.12:95667251:T:C
- Gene:
- LOC101926959 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000071/1
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
11.
rs1485622217 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 2:95668270
(GRCh38)
2:96334018
(GRCh37)
- Canonical SPDI:
- NC_000002.12:95668269:G:T
- Gene:
- LOC101926959 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000023/6
(TOPMED)
- HGVS:
12.
rs1484100022 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:95669057
(GRCh38)
2:96334805
(GRCh37)
- Canonical SPDI:
- NC_000002.12:95669056:T:C
- Gene:
- LOC101926959 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000224/1
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
13.
rs1483069187 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:95664644
(GRCh38)
2:96330392
(GRCh37)
- Canonical SPDI:
- NC_000002.12:95664643:G:A
- Gene:
- LOC101926959 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000019/5
(TOPMED)
A=0.000029/4
(GnomAD)
- HGVS:
14.
rs1482544252 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:95666932
(GRCh38)
2:96332680
(GRCh37)
- Canonical SPDI:
- NC_000002.12:95666931:A:G
- Gene:
- LOC101926959 (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:
16.
rs1481703426 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:95666361
(GRCh38)
2:96332109
(GRCh37)
- Canonical SPDI:
- NC_000002.12:95666360:T:C
- Gene:
- LOC101926959 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000015/4
(TOPMED)
- HGVS:
17.
rs1481560917 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 2:95667443
(GRCh38)
2:96333191
(GRCh37)
- Canonical SPDI:
- NC_000002.12:95667442:A:C
- Gene:
- LOC101926959 (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:
18.
rs1481387697 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:95667796
(GRCh38)
2:96333544
(GRCh37)
- Canonical SPDI:
- NC_000002.12:95667795:G:A
- Gene:
- LOC101926959 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
19.
rs1480139769 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 2:95666062
(GRCh38)
2:96331810
(GRCh37)
- Canonical SPDI:
- NC_000002.12:95666061:G:T
- Gene:
- LOC101926959 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
T=0.000007/1
(GnomAD)
- HGVS:
20.
rs1479210218 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 2:95667837
(GRCh38)
2:96333585
(GRCh37)
- Canonical SPDI:
- NC_000002.12:95667836:G:C,NC_000002.12:95667836:G:T
- Gene:
- LOC101926959 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
C=0.000053/14
(TOPMED)
- HGVS: