Links from Nucleotide
Items: 1 to 20 of 203
1.
rs1491396915 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 9:87553495
(GRCh38)
9:90168411
(GRCh37)
- Canonical SPDI:
- NC_000009.12:87553495:C:CC
- Gene:
- DAPK1 (Varview), DAPK1-IT1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CC=0./0
(
ALFA)
C=0.00001/1
(GnomAD)
- HGVS:
3.
rs1485470576 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:87553504
(GRCh38)
9:90168419
(GRCh37)
- Canonical SPDI:
- NC_000009.12:87553503:T:C
- Gene:
- DAPK1 (Varview), DAPK1-IT1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000011/3
(TOPMED)
- HGVS:
4.
rs1483677860 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:87553559
(GRCh38)
9:90168474
(GRCh37)
- Canonical SPDI:
- NC_000009.12:87553558:G:A
- Gene:
- DAPK1 (Varview), DAPK1-IT1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
5.
rs1483022892 has merged into rs10709417 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA,AAAA
[Show Flanks]
- Chromosome:
- 9:87554458
(GRCh38)
9:90169373
(GRCh37)
- Canonical SPDI:
- NC_000009.12:87554446:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000009.12:87554446:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:87554446:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:87554446:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA
- Gene:
- DAPK1 (Varview), DAPK1-IT1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0.000466/7
(
ALFA)
-=0.111864/66
(NorthernSweden)
-=0.15/6
(GENOME_DK)
-=0.208712/55244
(TOPMED)
- HGVS:
NC_000009.12:g.87554458_87554459del, NC_000009.12:g.87554459del, NC_000009.12:g.87554459dup, NC_000009.12:g.87554458_87554459dup, NC_000009.11:g.90169373_90169374del, NC_000009.11:g.90169374del, NC_000009.11:g.90169374dup, NC_000009.11:g.90169373_90169374dup, NG_029883.1:g.61618_61619del, NG_029883.1:g.61619del, NG_029883.1:g.61619dup, NG_029883.1:g.61618_61619dup, NR_146781.1:n.701_702del, NR_146781.1:n.702del, NR_146781.1:n.702dup, NR_146781.1:n.701_702dup
6.
rs1478945509 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 9:87554356
(GRCh38)
9:90169271
(GRCh37)
- Canonical SPDI:
- NC_000009.12:87554355:T:C,NC_000009.12:87554355:T:G
- Gene:
- DAPK1 (Varview), DAPK1-IT1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,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:
7.
rs1477509290 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAT>-
[Show Flanks]
- Chromosome:
- 9:87554434
(GRCh38)
9:90169349
(GRCh37)
- Canonical SPDI:
- NC_000009.12:87554428:AAAATAAAAT:AAAAT
- Gene:
- DAPK1 (Varview), DAPK1-IT1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAATAAAAT=0./0
(
ALFA)
-=0.000042/11
(TOPMED)
-=0.000076/10
(GnomAD)
- HGVS:
10.
rs1467172439 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 9:87553535
(GRCh38)
9:90168450
(GRCh37)
- Canonical SPDI:
- NC_000009.12:87553534:G:A,NC_000009.12:87553534:G:T
- Gene:
- DAPK1 (Varview), DAPK1-IT1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
T=0.000066/8
(GnomAD)
T=0.000071/2
(TOMMO)
- HGVS:
11.
rs1465255645 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 9:87554128
(GRCh38)
9:90169043
(GRCh37)
- Canonical SPDI:
- NC_000009.12:87554127:C:G,NC_000009.12:87554127:C:T
- Gene:
- DAPK1 (Varview), DAPK1-IT1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
12.
rs1464506270 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 9:87553532
(GRCh38)
9:90168447
(GRCh37)
- Canonical SPDI:
- NC_000009.12:87553531:G:C,NC_000009.12:87553531:G:T
- Gene:
- DAPK1 (Varview), DAPK1-IT1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
C=0.000078/10
(GnomAD)
- HGVS:
13.
rs1453092807 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 9:87554232
(GRCh38)
9:90169147
(GRCh37)
- Canonical SPDI:
- NC_000009.12:87554231:A:C,NC_000009.12:87554231:A:G
- Gene:
- DAPK1 (Varview), DAPK1-IT1 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
14.
rs1447190333 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:87554017
(GRCh38)
9:90168932
(GRCh37)
- Canonical SPDI:
- NC_000009.12:87554016:C:T
- Gene:
- DAPK1 (Varview), DAPK1-IT1 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency
- MAF:
T=0./0
(GnomAD)
- HGVS:
15.
rs1446804007 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:87553547
(GRCh38)
9:90168462
(GRCh37)
- Canonical SPDI:
- NC_000009.12:87553546:G:A
- Gene:
- DAPK1 (Varview), DAPK1-IT1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
16.
rs1446116393 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:87554039
(GRCh38)
9:90168954
(GRCh37)
- Canonical SPDI:
- NC_000009.12:87554038:T:C
- Gene:
- DAPK1 (Varview), DAPK1-IT1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000015/4
(TOPMED)
- HGVS:
17.
rs1445901201 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 9:87554122
(GRCh38)
9:90169037
(GRCh37)
- Canonical SPDI:
- NC_000009.12:87554121:A:C
- Gene:
- DAPK1 (Varview), DAPK1-IT1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
18.
rs1445265216 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 9:87553476
(GRCh38)
9:90168391
(GRCh37)
- Canonical SPDI:
- NC_000009.12:87553475:TTTT:TTT
- Gene:
- DAPK1 (Varview), DAPK1-IT1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTT=0./0
(
ALFA)
-=0.000009/1
(GnomAD)
-=0.000034/9
(TOPMED)
-=0.000142/2
(TOMMO)
- HGVS:
19.
rs1443471230 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 9:87554367
(GRCh38)
9:90169282
(GRCh37)
- Canonical SPDI:
- NC_000009.12:87554366:G:A,NC_000009.12:87554366:G:C
- Gene:
- DAPK1 (Varview), DAPK1-IT1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
G=0.5/1
(SGDP_PRJ)
- HGVS:
20.
rs1440473576 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 9:87553512
(GRCh38)
9:90168427
(GRCh37)
- Canonical SPDI:
- NC_000009.12:87553511:T:G
- Gene:
- DAPK1 (Varview), DAPK1-IT1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.00011/15
(GnomAD)
- HGVS: