Links from Gene
Items: 1 to 20 of 1000
1.
rs1491198418 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 19:3971744
(GRCh38)
19:3971743
(GRCh37)
- Canonical SPDI:
- NC_000019.10:3971744:T:TT
- Gene:
- DAPK3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
TT=0.00007/1
(
ALFA)
T=0.00007/5
(GnomAD)
- HGVS:
2.
rs1491075881 has merged into rs34130331 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 19:3958006
(GRCh38)
19:3958004
(GRCh37)
- Canonical SPDI:
- NC_000019.10:3957995:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000019.10:3957995:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:3957995:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:3957995:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:3957995:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:3957995:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:3957995:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:3957995:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:3957995:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:3957995:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:3957995:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:3957995:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:3957995:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:3957995:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:3957995:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:3957995:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:3957995:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:3957995:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- DAPK3 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000019.10:g.3958006_3958017del, NC_000019.10:g.3958007_3958017del, NC_000019.10:g.3958008_3958017del, NC_000019.10:g.3958009_3958017del, NC_000019.10:g.3958010_3958017del, NC_000019.10:g.3958011_3958017del, NC_000019.10:g.3958012_3958017del, NC_000019.10:g.3958013_3958017del, NC_000019.10:g.3958014_3958017del, NC_000019.10:g.3958015_3958017del, NC_000019.10:g.3958016_3958017del, NC_000019.10:g.3958017del, NC_000019.10:g.3958017dup, NC_000019.10:g.3958016_3958017dup, NC_000019.10:g.3958015_3958017dup, NC_000019.10:g.3958014_3958017dup, NC_000019.10:g.3958013_3958017dup, NC_000019.10:g.3958012_3958017dup, NC_000019.9:g.3958004_3958015del, NC_000019.9:g.3958005_3958015del, NC_000019.9:g.3958006_3958015del, NC_000019.9:g.3958007_3958015del, NC_000019.9:g.3958008_3958015del, NC_000019.9:g.3958009_3958015del, NC_000019.9:g.3958010_3958015del, NC_000019.9:g.3958011_3958015del, NC_000019.9:g.3958012_3958015del, NC_000019.9:g.3958013_3958015del, NC_000019.9:g.3958014_3958015del, NC_000019.9:g.3958015del, NC_000019.9:g.3958015dup, NC_000019.9:g.3958014_3958015dup, NC_000019.9:g.3958013_3958015dup, NC_000019.9:g.3958012_3958015dup, NC_000019.9:g.3958011_3958015dup, NC_000019.9:g.3958010_3958015dup
3.
rs1491071286 has merged into rs34304441 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAA>-,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 19:3960811
(GRCh38)
19:3960809
(GRCh37)
- Canonical SPDI:
- NC_000019.10:3960803:AAAAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000019.10:3960803:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:3960803:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:3960803:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:3960803:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:3960803:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:3960803:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:3960803:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:3960803:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:3960803:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:3960803:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:3960803:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:3960803:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- DAPK3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAA=0./0
(
ALFA)
A=0.3433/1719
(1000Genomes)
- HGVS:
NC_000019.10:g.3960811_3960824del, NC_000019.10:g.3960818_3960824del, NC_000019.10:g.3960819_3960824del, NC_000019.10:g.3960820_3960824del, NC_000019.10:g.3960821_3960824del, NC_000019.10:g.3960822_3960824del, NC_000019.10:g.3960823_3960824del, NC_000019.10:g.3960824del, NC_000019.10:g.3960824dup, NC_000019.10:g.3960823_3960824dup, NC_000019.10:g.3960822_3960824dup, NC_000019.10:g.3960821_3960824dup, NC_000019.10:g.3960820_3960824dup, NC_000019.9:g.3960809_3960822del, NC_000019.9:g.3960816_3960822del, NC_000019.9:g.3960817_3960822del, NC_000019.9:g.3960818_3960822del, NC_000019.9:g.3960819_3960822del, NC_000019.9:g.3960820_3960822del, NC_000019.9:g.3960821_3960822del, NC_000019.9:g.3960822del, NC_000019.9:g.3960822dup, NC_000019.9:g.3960821_3960822dup, NC_000019.9:g.3960820_3960822dup, NC_000019.9:g.3960819_3960822dup, NC_000019.9:g.3960818_3960822dup
4.
rs1491008239 has merged into rs34972570 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 19:3972323
(GRCh38)
19:3972321
(GRCh37)
- Canonical SPDI:
- NC_000019.10:3972314:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000019.10:3972314:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:3972314:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:3972314:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:3972314:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:3972314:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:3972314:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:3972314:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:3972314:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:3972314:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:3972314:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:3972314:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:3972314:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:3972314:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:3972314:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:3972314:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:3972314:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:3972314:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:3972314:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:3972314:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:3972314:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:3972314:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:3972314:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:3972314:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:3972314:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:3972314:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:3972314:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:3972314:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:3972314:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:3972314:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- DAPK3 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
-=0.0158/61
(ALSPAC)
-=0.0194/72
(TWINSUK)
-=0.275/11
(GENOME_DK)
- HGVS:
NC_000019.10:g.3972323_3972339del, NC_000019.10:g.3972326_3972339del, NC_000019.10:g.3972327_3972339del, NC_000019.10:g.3972328_3972339del, NC_000019.10:g.3972329_3972339del, NC_000019.10:g.3972330_3972339del, NC_000019.10:g.3972331_3972339del, NC_000019.10:g.3972332_3972339del, NC_000019.10:g.3972333_3972339del, NC_000019.10:g.3972334_3972339del, NC_000019.10:g.3972335_3972339del, NC_000019.10:g.3972336_3972339del, NC_000019.10:g.3972337_3972339del, NC_000019.10:g.3972338_3972339del, NC_000019.10:g.3972339del, NC_000019.10:g.3972339dup, NC_000019.10:g.3972338_3972339dup, NC_000019.10:g.3972337_3972339dup, NC_000019.10:g.3972336_3972339dup, NC_000019.10:g.3972335_3972339dup, NC_000019.10:g.3972334_3972339dup, NC_000019.10:g.3972333_3972339dup, NC_000019.10:g.3972332_3972339dup, NC_000019.10:g.3972331_3972339dup, NC_000019.10:g.3972330_3972339dup, NC_000019.10:g.3972329_3972339dup, NC_000019.10:g.3972328_3972339dup, NC_000019.10:g.3972327_3972339dup, NC_000019.10:g.3972326_3972339dup, NC_000019.10:g.3972325_3972339dup, NC_000019.9:g.3972321_3972337del, NC_000019.9:g.3972324_3972337del, NC_000019.9:g.3972325_3972337del, NC_000019.9:g.3972326_3972337del, NC_000019.9:g.3972327_3972337del, NC_000019.9:g.3972328_3972337del, NC_000019.9:g.3972329_3972337del, NC_000019.9:g.3972330_3972337del, NC_000019.9:g.3972331_3972337del, NC_000019.9:g.3972332_3972337del, NC_000019.9:g.3972333_3972337del, NC_000019.9:g.3972334_3972337del, NC_000019.9:g.3972335_3972337del, NC_000019.9:g.3972336_3972337del, NC_000019.9:g.3972337del, NC_000019.9:g.3972337dup, NC_000019.9:g.3972336_3972337dup, NC_000019.9:g.3972335_3972337dup, NC_000019.9:g.3972334_3972337dup, NC_000019.9:g.3972333_3972337dup, NC_000019.9:g.3972332_3972337dup, NC_000019.9:g.3972331_3972337dup, NC_000019.9:g.3972330_3972337dup, NC_000019.9:g.3972329_3972337dup, NC_000019.9:g.3972328_3972337dup, NC_000019.9:g.3972327_3972337dup, NC_000019.9:g.3972326_3972337dup, NC_000019.9:g.3972325_3972337dup, NC_000019.9:g.3972324_3972337dup, NC_000019.9:g.3972323_3972337dup
5.
rs1490901512 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:3964148
(GRCh38)
19:3964146
(GRCh37)
- Canonical SPDI:
- NC_000019.10:3964147:G:A
- Gene:
- DAPK3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
6.
rs1490871180 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 19:3964981
(GRCh38)
19:3964979
(GRCh37)
- Canonical SPDI:
- NC_000019.10:3964980:C:A
- Gene:
- DAPK3 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
7.
rs1490808992 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 19:3972622
(GRCh38)
19:3972620
(GRCh37)
- Canonical SPDI:
- NC_000019.10:3972621:T:G
- Gene:
- DAPK3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
8.
rs1490739383 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:3961214
(GRCh38)
19:3961212
(GRCh37)
- Canonical SPDI:
- NC_000019.10:3961213:C:T
- Gene:
- DAPK3 (Varview), MIR637 (Varview)
- Functional Consequence:
- downstream_transcript_variant,intron_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000084/1
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000034/9
(TOPMED)
- HGVS:
9.
rs1490678214 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 19:3972179
(GRCh38)
19:3972177
(GRCh37)
- Canonical SPDI:
- NC_000019.10:3972178:T:A
- Gene:
- DAPK3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
10.
rs1490537394 has merged into rs34972570 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 19:3972323
(GRCh38)
19:3972321
(GRCh37)
- Canonical SPDI:
- NC_000019.10:3972314:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000019.10:3972314:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:3972314:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:3972314:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:3972314:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:3972314:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:3972314:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:3972314:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:3972314:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:3972314:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:3972314:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:3972314:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:3972314:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:3972314:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:3972314:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:3972314:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:3972314:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:3972314:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:3972314:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:3972314:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:3972314:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:3972314:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:3972314:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:3972314:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:3972314:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:3972314:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:3972314:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:3972314:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:3972314:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:3972314:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- DAPK3 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
-=0.0158/61
(ALSPAC)
-=0.0194/72
(TWINSUK)
-=0.275/11
(GENOME_DK)
- HGVS:
NC_000019.10:g.3972323_3972339del, NC_000019.10:g.3972326_3972339del, NC_000019.10:g.3972327_3972339del, NC_000019.10:g.3972328_3972339del, NC_000019.10:g.3972329_3972339del, NC_000019.10:g.3972330_3972339del, NC_000019.10:g.3972331_3972339del, NC_000019.10:g.3972332_3972339del, NC_000019.10:g.3972333_3972339del, NC_000019.10:g.3972334_3972339del, NC_000019.10:g.3972335_3972339del, NC_000019.10:g.3972336_3972339del, NC_000019.10:g.3972337_3972339del, NC_000019.10:g.3972338_3972339del, NC_000019.10:g.3972339del, NC_000019.10:g.3972339dup, NC_000019.10:g.3972338_3972339dup, NC_000019.10:g.3972337_3972339dup, NC_000019.10:g.3972336_3972339dup, NC_000019.10:g.3972335_3972339dup, NC_000019.10:g.3972334_3972339dup, NC_000019.10:g.3972333_3972339dup, NC_000019.10:g.3972332_3972339dup, NC_000019.10:g.3972331_3972339dup, NC_000019.10:g.3972330_3972339dup, NC_000019.10:g.3972329_3972339dup, NC_000019.10:g.3972328_3972339dup, NC_000019.10:g.3972327_3972339dup, NC_000019.10:g.3972326_3972339dup, NC_000019.10:g.3972325_3972339dup, NC_000019.9:g.3972321_3972337del, NC_000019.9:g.3972324_3972337del, NC_000019.9:g.3972325_3972337del, NC_000019.9:g.3972326_3972337del, NC_000019.9:g.3972327_3972337del, NC_000019.9:g.3972328_3972337del, NC_000019.9:g.3972329_3972337del, NC_000019.9:g.3972330_3972337del, NC_000019.9:g.3972331_3972337del, NC_000019.9:g.3972332_3972337del, NC_000019.9:g.3972333_3972337del, NC_000019.9:g.3972334_3972337del, NC_000019.9:g.3972335_3972337del, NC_000019.9:g.3972336_3972337del, NC_000019.9:g.3972337del, NC_000019.9:g.3972337dup, NC_000019.9:g.3972336_3972337dup, NC_000019.9:g.3972335_3972337dup, NC_000019.9:g.3972334_3972337dup, NC_000019.9:g.3972333_3972337dup, NC_000019.9:g.3972332_3972337dup, NC_000019.9:g.3972331_3972337dup, NC_000019.9:g.3972330_3972337dup, NC_000019.9:g.3972329_3972337dup, NC_000019.9:g.3972328_3972337dup, NC_000019.9:g.3972327_3972337dup, NC_000019.9:g.3972326_3972337dup, NC_000019.9:g.3972325_3972337dup, NC_000019.9:g.3972324_3972337dup, NC_000019.9:g.3972323_3972337dup
11.
rs1490359435 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:3966569
(GRCh38)
19:3966567
(GRCh37)
- Canonical SPDI:
- NC_000019.10:3966568:G:A
- Gene:
- DAPK3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000023/6
(TOPMED)
A=0.000036/5
(GnomAD)
- HGVS:
12.
rs1489744887 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:3965469
(GRCh38)
19:3965467
(GRCh37)
- Canonical SPDI:
- NC_000019.10:3965468:T:C
- Gene:
- DAPK3 (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:
13.
rs1489636804 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:3962419
(GRCh38)
19:3962417
(GRCh37)
- Canonical SPDI:
- NC_000019.10:3962418:A:G
- Gene:
- DAPK3 (Varview), MIR637 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
G=0.000007/1
(GnomAD)
- HGVS:
15.
rs1489515125 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 19:3967474
(GRCh38)
19:3967472
(GRCh37)
- Canonical SPDI:
- NC_000019.10:3967473:G:A,NC_000019.10:3967473:G:T
- Gene:
- DAPK3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0./0
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
16.
rs1489347933 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:3962874
(GRCh38)
19:3962872
(GRCh37)
- Canonical SPDI:
- NC_000019.10:3962873:G:A
- Gene:
- DAPK3 (Varview), MIR637 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
17.
rs1488926676 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:3961015
(GRCh38)
19:3961013
(GRCh37)
- Canonical SPDI:
- NC_000019.10:3961014:T:C
- Gene:
- DAPK3 (Varview), MIR637 (Varview)
- Functional Consequence:
- downstream_transcript_variant,missense_variant,500B_downstream_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
18.
rs1488743164 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:3968962
(GRCh38)
19:3968960
(GRCh37)
- Canonical SPDI:
- NC_000019.10:3968961:A:G
- Gene:
- DAPK3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
19.
rs1488722030 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:3962680
(GRCh38)
19:3962678
(GRCh37)
- Canonical SPDI:
- NC_000019.10:3962679:G:A
- Gene:
- DAPK3 (Varview), MIR637 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
- HGVS:
20.
rs1488709575 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CGCCGCGACGCGCCTGC>-
[Show Flanks]
- Chromosome:
- 19:3971099
(GRCh38)
19:3971097
(GRCh37)
- Canonical SPDI:
- NC_000019.10:3971093:CCTGCCGCCGCGACGCGCCTGC:CCTGC
- Gene:
- DAPK3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCTGC=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS: