Links from Gene
Items: 1 to 20 of 2416
1.
rs1491581603 has merged into rs61026642 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 15:63932476
(GRCh38)
15:64224675
(GRCh37)
- Canonical SPDI:
- NC_000015.10:63932466:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000015.10:63932466:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:63932466:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:63932466:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:63932466:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:63932466:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:63932466:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:63932466:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:63932466:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:63932466:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:63932466:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:63932466:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:63932466:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:63932466:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:63932466:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:63932466:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:63932466:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:63932466:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:63932466:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:63932466:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:63932466:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:63932466:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:63932466:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:63932466:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:63932466:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:63932466:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:63932466:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:63932466:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:63932466:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:63932466:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:63932466:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:63932466:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- DAPK2 (Varview), LOC101928988 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000015.10:g.63932476_63932491del, NC_000015.10:g.63932478_63932491del, NC_000015.10:g.63932479_63932491del, NC_000015.10:g.63932480_63932491del, NC_000015.10:g.63932481_63932491del, NC_000015.10:g.63932482_63932491del, NC_000015.10:g.63932483_63932491del, NC_000015.10:g.63932484_63932491del, NC_000015.10:g.63932485_63932491del, NC_000015.10:g.63932486_63932491del, NC_000015.10:g.63932487_63932491del, NC_000015.10:g.63932488_63932491del, NC_000015.10:g.63932489_63932491del, NC_000015.10:g.63932490_63932491del, NC_000015.10:g.63932491del, NC_000015.10:g.63932491dup, NC_000015.10:g.63932490_63932491dup, NC_000015.10:g.63932489_63932491dup, NC_000015.10:g.63932488_63932491dup, NC_000015.10:g.63932487_63932491dup, NC_000015.10:g.63932486_63932491dup, NC_000015.10:g.63932485_63932491dup, NC_000015.10:g.63932484_63932491dup, NC_000015.10:g.63932483_63932491dup, NC_000015.10:g.63932481_63932491dup, NC_000015.10:g.63932480_63932491dup, NC_000015.10:g.63932479_63932491dup, NC_000015.10:g.63932478_63932491dup, NC_000015.10:g.63932477_63932491dup, NC_000015.10:g.63932476_63932491dup, NC_000015.10:g.63932491_63932492insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.10:g.63932491_63932492insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.64224675_64224690del, NC_000015.9:g.64224677_64224690del, NC_000015.9:g.64224678_64224690del, NC_000015.9:g.64224679_64224690del, NC_000015.9:g.64224680_64224690del, NC_000015.9:g.64224681_64224690del, NC_000015.9:g.64224682_64224690del, NC_000015.9:g.64224683_64224690del, NC_000015.9:g.64224684_64224690del, NC_000015.9:g.64224685_64224690del, NC_000015.9:g.64224686_64224690del, NC_000015.9:g.64224687_64224690del, NC_000015.9:g.64224688_64224690del, NC_000015.9:g.64224689_64224690del, NC_000015.9:g.64224690del, NC_000015.9:g.64224690dup, NC_000015.9:g.64224689_64224690dup, NC_000015.9:g.64224688_64224690dup, NC_000015.9:g.64224687_64224690dup, NC_000015.9:g.64224686_64224690dup, NC_000015.9:g.64224685_64224690dup, NC_000015.9:g.64224684_64224690dup, NC_000015.9:g.64224683_64224690dup, NC_000015.9:g.64224682_64224690dup, NC_000015.9:g.64224680_64224690dup, NC_000015.9:g.64224679_64224690dup, NC_000015.9:g.64224678_64224690dup, NC_000015.9:g.64224677_64224690dup, NC_000015.9:g.64224676_64224690dup, NC_000015.9:g.64224675_64224690dup, NC_000015.9:g.64224690_64224691insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.64224690_64224691insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
2.
rs1491555119 has merged into rs1040794047 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-,TT
[Show Flanks]
- Chromosome:
- 15:63932552
(GRCh38)
15:64224751
(GRCh37)
- Canonical SPDI:
- NC_000015.10:63932551:TTTTTTTT:TTTTTTT,NC_000015.10:63932551:TTTTTTTT:TTTTTTTTT
- Gene:
- DAPK2 (Varview), LOC101928988 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.003344/2
(NorthernSweden)
-=0.003935/194
(GnomAD)
-=0.006052/18
(TOMMO)
- HGVS:
3.
rs1491519233 has merged into rs10568768 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 15:63929207
(GRCh38)
15:64221406
(GRCh37)
- Canonical SPDI:
- NC_000015.10:63929198:AAAAAAAAAAAAAAAA:AAAAAAAA,NC_000015.10:63929198:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:63929198:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:63929198:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:63929198:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:63929198:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:63929198:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:63929198:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:63929198:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:63929198:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- DAPK2 (Varview), LOC101928988 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0./0
(
ALFA)
A=0.0078/29
(TWINSUK)
A=0.0086/33
(ALSPAC)
A=0.1677/840
(1000Genomes)
- HGVS:
NC_000015.10:g.63929207_63929214del, NC_000015.10:g.63929210_63929214del, NC_000015.10:g.63929211_63929214del, NC_000015.10:g.63929212_63929214del, NC_000015.10:g.63929213_63929214del, NC_000015.10:g.63929214del, NC_000015.10:g.63929214dup, NC_000015.10:g.63929213_63929214dup, NC_000015.10:g.63929212_63929214dup, NC_000015.10:g.63929208_63929214dup, NC_000015.9:g.64221406_64221413del, NC_000015.9:g.64221409_64221413del, NC_000015.9:g.64221410_64221413del, NC_000015.9:g.64221411_64221413del, NC_000015.9:g.64221412_64221413del, NC_000015.9:g.64221413del, NC_000015.9:g.64221413dup, NC_000015.9:g.64221412_64221413dup, NC_000015.9:g.64221411_64221413dup, NC_000015.9:g.64221407_64221413dup
4.
rs1491508246 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 15:63932466
(GRCh38)
15:64224665
(GRCh37)
- Canonical SPDI:
- NC_000015.10:63932465:CA:
- Gene:
- DAPK2 (Varview), LOC101928988 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.00008/1
(
ALFA)
-=0.0005/14
(TOMMO)
- HGVS:
5.
rs1491472746 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 15:63932165
(GRCh38)
15:64224364
(GRCh37)
- Canonical SPDI:
- NC_000015.10:63932164:TA:
- Gene:
- DAPK2 (Varview), LOC101928988 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.00028/27
(GnomAD)
- HGVS:
6.
rs1491457959 has merged into rs869038055 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 15:63932551
(GRCh38)
15:64224750
(GRCh37)
- Canonical SPDI:
- NC_000015.10:63932549:TAT:T
- Gene:
- DAPK2 (Varview), LOC101928988 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.001096/13
(
ALFA)
-=0.000952/252
(TOPMED)
-=0.001451/12
(TOMMO)
-=0.001451/158
(GnomAD)
-=0.013957/17
(Korea1K)
- HGVS:
7.
rs1491414209 has merged into rs35739549 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTCCTTCTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 15:63935102
(GRCh38)
15:64227301
(GRCh37)
- Canonical SPDI:
- NC_000015.10:63935089:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000015.10:63935089:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000015.10:63935089:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000015.10:63935089:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000015.10:63935089:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000015.10:63935089:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000015.10:63935089:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000015.10:63935089:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000015.10:63935089:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000015.10:63935089:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:63935089:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:63935089:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTCCTTCTTTTTTTTTTTTTTTTTT,NC_000015.10:63935089:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:63935089:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:63935089:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- DAPK2 (Varview), LOC101928988 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000015.10:g.63935102_63935105del, NC_000015.10:g.63935103_63935105del, NC_000015.10:g.63935104_63935105del, NC_000015.10:g.63935105del, NC_000015.10:g.63935105dup, NC_000015.10:g.63935104_63935105dup, NC_000015.10:g.63935103_63935105dup, NC_000015.10:g.63935102_63935105dup, NC_000015.10:g.63935101_63935105dup, NC_000015.10:g.63935100_63935105dup, NC_000015.10:g.63935098_63935105dup, NC_000015.10:g.63935090_63935105T[24]CCTTCTTTTTTTTTTTTTTTTTT[1], NC_000015.10:g.63935097_63935105dup, NC_000015.10:g.63935095_63935105dup, NC_000015.10:g.63935092_63935105dup, NC_000015.9:g.64227301_64227304del, NC_000015.9:g.64227302_64227304del, NC_000015.9:g.64227303_64227304del, NC_000015.9:g.64227304del, NC_000015.9:g.64227304dup, NC_000015.9:g.64227303_64227304dup, NC_000015.9:g.64227302_64227304dup, NC_000015.9:g.64227301_64227304dup, NC_000015.9:g.64227300_64227304dup, NC_000015.9:g.64227299_64227304dup, NC_000015.9:g.64227297_64227304dup, NC_000015.9:g.64227289_64227304T[24]CCTTCTTTTTTTTTTTTTTTTTT[1], NC_000015.9:g.64227296_64227304dup, NC_000015.9:g.64227294_64227304dup, NC_000015.9:g.64227291_64227304dup
8.
rs1491244920 has merged into rs386383265 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA
[Show Flanks]
- Chromosome:
- 15:63932182
(GRCh38)
15:64224381
(GRCh37)
- Canonical SPDI:
- NC_000015.10:63932165:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:63932165:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:63932165:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:63932165:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:63932165:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:63932165:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:63932165:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- DAPK2 (Varview), LOC101928988 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.00014/2
(TOMMO)
- HGVS:
NC_000015.10:g.63932182_63932183del, NC_000015.10:g.63932183del, NC_000015.10:g.63932183dup, NC_000015.10:g.63932182_63932183dup, NC_000015.10:g.63932181_63932183dup, NC_000015.10:g.63932180_63932183dup, NC_000015.10:g.63932179_63932183dup, NC_000015.9:g.64224381_64224382del, NC_000015.9:g.64224382del, NC_000015.9:g.64224382dup, NC_000015.9:g.64224381_64224382dup, NC_000015.9:g.64224380_64224382dup, NC_000015.9:g.64224379_64224382dup, NC_000015.9:g.64224378_64224382dup
9.
rs1491009072 has merged into rs56346248 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT
[Show Flanks]
- Chromosome:
- 15:63927756
(GRCh38)
15:64219955
(GRCh37)
- Canonical SPDI:
- NC_000015.10:63927743:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000015.10:63927743:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000015.10:63927743:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000015.10:63927743:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000015.10:63927743:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000015.10:63927743:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000015.10:63927743:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
- Gene:
- DAPK2 (Varview), LOC101928988 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
T=0.109/546
(1000Genomes)
- HGVS:
NC_000015.10:g.63927756_63927758del, NC_000015.10:g.63927757_63927758del, NC_000015.10:g.63927758del, NC_000015.10:g.63927758dup, NC_000015.10:g.63927757_63927758dup, NC_000015.10:g.63927756_63927758dup, NC_000015.10:g.63927755_63927758dup, NC_000015.9:g.64219955_64219957del, NC_000015.9:g.64219956_64219957del, NC_000015.9:g.64219957del, NC_000015.9:g.64219957dup, NC_000015.9:g.64219956_64219957dup, NC_000015.9:g.64219955_64219957dup, NC_000015.9:g.64219954_64219957dup
10.
rs1490926212 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 15:63926377
(GRCh38)
15:64218576
(GRCh37)
- Canonical SPDI:
- NC_000015.10:63926376:C:A
- Gene:
- DAPK2 (Varview), LOC101928988 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_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:
11.
rs1490689500 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 15:63930771
(GRCh38)
15:64222970
(GRCh37)
- Canonical SPDI:
- NC_000015.10:63930770:CCC:CC
- Gene:
- DAPK2 (Varview), LOC101928988 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0./0
(
ALFA)
-=0.000029/4
(GnomAD)
-=0.00003/8
(TOPMED)
- HGVS:
12.
rs1490624053 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 15:63931733
(GRCh38)
15:64223932
(GRCh37)
- Canonical SPDI:
- NC_000015.10:63931732:A:G
- Gene:
- DAPK2 (Varview), LOC101928988 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
13.
rs1490593153 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 15:63934560
(GRCh38)
15:64226759
(GRCh37)
- Canonical SPDI:
- NC_000015.10:63934559:T:G
- Gene:
- DAPK2 (Varview), LOC101928988 (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:
14.
rs1490556587 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 15:63933710
(GRCh38)
15:64225910
(GRCh37)
- Canonical SPDI:
- NC_000015.10:63933710:A:AA
- Gene:
- DAPK2 (Varview), LOC101928988 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
A=0.000019/5
(TOPMED)
A=0.000036/5
(GnomAD)
- HGVS:
16.
rs1490472503 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:63927063
(GRCh38)
15:64219262
(GRCh37)
- Canonical SPDI:
- NC_000015.10:63927062:C:T
- Gene:
- DAPK2 (Varview), LOC101928988 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
17.
rs1490234035 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 15:63934485
(GRCh38)
15:64226684
(GRCh37)
- Canonical SPDI:
- NC_000015.10:63934484:G:C
- Gene:
- DAPK2 (Varview), LOC101928988 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
18.
rs1490198484 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 15:63931714
(GRCh38)
15:64223913
(GRCh37)
- Canonical SPDI:
- NC_000015.10:63931713:G:A,NC_000015.10:63931713:G:C
- Gene:
- DAPK2 (Varview), LOC101928988 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000019/5
(TOPMED)
A=0.000021/3
(GnomAD)
C=0.000684/2
(KOREAN)
- HGVS:
19.
rs1489862805 has merged into rs35739549 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTCCTTCTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 15:63935102
(GRCh38)
15:64227301
(GRCh37)
- Canonical SPDI:
- NC_000015.10:63935089:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000015.10:63935089:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000015.10:63935089:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000015.10:63935089:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000015.10:63935089:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000015.10:63935089:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000015.10:63935089:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000015.10:63935089:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000015.10:63935089:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000015.10:63935089:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:63935089:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:63935089:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTCCTTCTTTTTTTTTTTTTTTTTT,NC_000015.10:63935089:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:63935089:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:63935089:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- DAPK2 (Varview), LOC101928988 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000015.10:g.63935102_63935105del, NC_000015.10:g.63935103_63935105del, NC_000015.10:g.63935104_63935105del, NC_000015.10:g.63935105del, NC_000015.10:g.63935105dup, NC_000015.10:g.63935104_63935105dup, NC_000015.10:g.63935103_63935105dup, NC_000015.10:g.63935102_63935105dup, NC_000015.10:g.63935101_63935105dup, NC_000015.10:g.63935100_63935105dup, NC_000015.10:g.63935098_63935105dup, NC_000015.10:g.63935090_63935105T[24]CCTTCTTTTTTTTTTTTTTTTTT[1], NC_000015.10:g.63935097_63935105dup, NC_000015.10:g.63935095_63935105dup, NC_000015.10:g.63935092_63935105dup, NC_000015.9:g.64227301_64227304del, NC_000015.9:g.64227302_64227304del, NC_000015.9:g.64227303_64227304del, NC_000015.9:g.64227304del, NC_000015.9:g.64227304dup, NC_000015.9:g.64227303_64227304dup, NC_000015.9:g.64227302_64227304dup, NC_000015.9:g.64227301_64227304dup, NC_000015.9:g.64227300_64227304dup, NC_000015.9:g.64227299_64227304dup, NC_000015.9:g.64227297_64227304dup, NC_000015.9:g.64227289_64227304T[24]CCTTCTTTTTTTTTTTTTTTTTT[1], NC_000015.9:g.64227296_64227304dup, NC_000015.9:g.64227294_64227304dup, NC_000015.9:g.64227291_64227304dup
20.
rs1489725051 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 15:63935080
(GRCh38)
15:64227279
(GRCh37)
- Canonical SPDI:
- NC_000015.10:63935079:C:G,NC_000015.10:63935079:C:T
- Gene:
- DAPK2 (Varview), LOC101928988 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
T=0.020192/59
(KOREAN)
- HGVS: