Links from Nucleotide
Items: 1 to 20 of 717
1.
rs1489531446 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 10:118209830
(GRCh38)
10:119969342
(GRCh37)
- Canonical SPDI:
- NC_000010.11:118209829:TTT:TT
- Gene:
- CASC2 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
2.
rs1489176991 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 10:118209270
(GRCh38)
10:119968782
(GRCh37)
- Canonical SPDI:
- NC_000010.11:118209269:G:A
- Gene:
- CASC2 (Varview)
- Functional Consequence:
- genic_downstream_transcript_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:
3.
rs1488194690 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 10:118209750
(GRCh38)
10:119969262
(GRCh37)
- Canonical SPDI:
- NC_000010.11:118209749:G:C
- Gene:
- CASC2 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
4.
rs1486982517 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 10:118052188
(GRCh38)
10:119811699
(GRCh37)
- Canonical SPDI:
- NC_000010.11:118052187:A:C
- Gene:
- CASC2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
5.
rs1486880329 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 10:118209267
(GRCh38)
10:119968779
(GRCh37)
- Canonical SPDI:
- NC_000010.11:118209266:A:T
- Gene:
- CASC2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
6.
rs1486813447 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 10:118207621
(GRCh38)
10:119967133
(GRCh37)
- Canonical SPDI:
- NC_000010.11:118207620:G:C
- Gene:
- CASC2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
7.
rs1486804193 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 10:118210136
(GRCh38)
10:119969648
(GRCh37)
- Canonical SPDI:
- NC_000010.11:118210135:CC:C
- Gene:
- CASC2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
8.
rs1484704087 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 10:118207547
(GRCh38)
10:119967059
(GRCh37)
- Canonical SPDI:
- NC_000010.11:118207546:A:G,NC_000010.11:118207546:A:T
- Gene:
- CASC2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
9.
rs1484640706 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 10:118207839
(GRCh38)
10:119967351
(GRCh37)
- Canonical SPDI:
- NC_000010.11:118207838:C:T
- Gene:
- CASC2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000026/7
(TOPMED)
- HGVS:
10.
rs1482584992 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 10:118208112
(GRCh38)
10:119967624
(GRCh37)
- Canonical SPDI:
- NC_000010.11:118208111:T:G
- Gene:
- CASC2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
12.
rs1480283895 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 10:118208438
(GRCh38)
10:119967950
(GRCh37)
- Canonical SPDI:
- NC_000010.11:118208437:T:C
- Gene:
- CASC2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_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:
13.
rs1479332650 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 10:118208413
(GRCh38)
10:119967925
(GRCh37)
- Canonical SPDI:
- NC_000010.11:118208412:T:C
- Gene:
- CASC2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_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.
rs1479262300 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 10:118209003
(GRCh38)
10:119968515
(GRCh37)
- Canonical SPDI:
- NC_000010.11:118209002:G:A
- Gene:
- CASC2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
15.
rs1478008296 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 10:118049575
(GRCh38)
10:119809086
(GRCh37)
- Canonical SPDI:
- NC_000010.11:118049574:C:T
- Gene:
- CASC2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
16.
rs1477694389 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAG>-
[Show Flanks]
- Chromosome:
- 10:118209806
(GRCh38)
10:119969318
(GRCh37)
- Canonical SPDI:
- NC_000010.11:118209802:AAGAAG:AAG
- Gene:
- CASC2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAGAAG=0./0
(
ALFA)
-=0.0006/10
(TOMMO)
-=0.00109/2
(Korea1K)
- HGVS:
17.
rs1476526209 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 10:118208252
(GRCh38)
10:119967764
(GRCh37)
- Canonical SPDI:
- NC_000010.11:118208251:T:C
- Gene:
- CASC2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_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:
18.
rs1476318596 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 10:118209034
(GRCh38)
10:119968546
(GRCh37)
- Canonical SPDI:
- NC_000010.11:118209033:C:A
- Gene:
- CASC2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
19.
rs1475976498 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 10:118209901
(GRCh38)
10:119969413
(GRCh37)
- Canonical SPDI:
- NC_000010.11:118209900:G:A
- Gene:
- CASC2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
A=0.000071/1
(TOMMO)
A=0.000546/1
(Korea1K)
- HGVS:
20.
rs1473253254 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 10:118209266
(GRCh38)
10:119968778
(GRCh37)
- Canonical SPDI:
- NC_000010.11:118209265:G:T
- Gene:
- CASC2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS: