Links from Gene
Items: 1 to 20 of 3752
1.
rs1491463425 has merged into rs11350828 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GG>-,G,GGG,GGGG,GGGGG,GGGGGG,GGGGGGG,GGGGGGGG,GGGGGGGGG
[Show Flanks]
- Chromosome:
- 14:77135199
(GRCh38)
14:77601542
(GRCh37)
- Canonical SPDI:
- NC_000014.9:77135190:GGGGGGGGGG:GGGGGGGG,NC_000014.9:77135190:GGGGGGGGGG:GGGGGGGGG,NC_000014.9:77135190:GGGGGGGGGG:GGGGGGGGGGG,NC_000014.9:77135190:GGGGGGGGGG:GGGGGGGGGGGG,NC_000014.9:77135190:GGGGGGGGGG:GGGGGGGGGGGGG,NC_000014.9:77135190:GGGGGGGGGG:GGGGGGGGGGGGGG,NC_000014.9:77135190:GGGGGGGGGG:GGGGGGGGGGGGGGG,NC_000014.9:77135190:GGGGGGGGGG:GGGGGGGGGGGGGGGG,NC_000014.9:77135190:GGGGGGGGGG:GGGGGGGGGGGGGGGGG
- Gene:
- ZDHHC22 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGGGGGGGGGGGGGG=0./0
(
ALFA)
G=0.1849/926
(1000Genomes)
- HGVS:
NC_000014.9:g.77135199_77135200del, NC_000014.9:g.77135200del, NC_000014.9:g.77135200dup, NC_000014.9:g.77135199_77135200dup, NC_000014.9:g.77135198_77135200dup, NC_000014.9:g.77135197_77135200dup, NC_000014.9:g.77135196_77135200dup, NC_000014.9:g.77135195_77135200dup, NC_000014.9:g.77135194_77135200dup, NC_000014.8:g.77601542_77601543del, NC_000014.8:g.77601543del, NC_000014.8:g.77601543dup, NC_000014.8:g.77601542_77601543dup, NC_000014.8:g.77601541_77601543dup, NC_000014.8:g.77601540_77601543dup, NC_000014.8:g.77601539_77601543dup, NC_000014.8:g.77601538_77601543dup, NC_000014.8:g.77601537_77601543dup
2.
rs1491459943 has merged into rs4021329 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ACACACAC>-,AC,ACAC,ACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC
[Show Flanks]
- Chromosome:
- 14:77132838
(GRCh38)
14:77599181
(GRCh37)
- Canonical SPDI:
- NC_000014.9:77132816:CACACACACACACACACACACACACACAC:CACACACACACACACACACAC,NC_000014.9:77132816:CACACACACACACACACACACACACACAC:CACACACACACACACACACACAC,NC_000014.9:77132816:CACACACACACACACACACACACACACAC:CACACACACACACACACACACACAC,NC_000014.9:77132816:CACACACACACACACACACACACACACAC:CACACACACACACACACACACACACAC,NC_000014.9:77132816:CACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACAC,NC_000014.9:77132816:CACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACAC,NC_000014.9:77132816:CACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACAC,NC_000014.9:77132816:CACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACAC,NC_000014.9:77132816:CACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACAC,NC_000014.9:77132816:CACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACAC,NC_000014.9:77132816:CACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACAC,NC_000014.9:77132816:CACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACAC,NC_000014.9:77132816:CACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACAC
- Gene:
- ZDHHC22 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CACACACACACACACACACACAC=0./0
(
ALFA)
CA=0.06078/1560
(TOMMO)
- HGVS:
NC_000014.9:g.77132818AC[10], NC_000014.9:g.77132818AC[11], NC_000014.9:g.77132818AC[12], NC_000014.9:g.77132818AC[13], NC_000014.9:g.77132818AC[15], NC_000014.9:g.77132818AC[16], NC_000014.9:g.77132818AC[17], NC_000014.9:g.77132818AC[18], NC_000014.9:g.77132818AC[19], NC_000014.9:g.77132818AC[20], NC_000014.9:g.77132818AC[21], NC_000014.9:g.77132818AC[22], NC_000014.9:g.77132818AC[23], NC_000014.8:g.77599161AC[10], NC_000014.8:g.77599161AC[11], NC_000014.8:g.77599161AC[12], NC_000014.8:g.77599161AC[13], NC_000014.8:g.77599161AC[15], NC_000014.8:g.77599161AC[16], NC_000014.8:g.77599161AC[17], NC_000014.8:g.77599161AC[18], NC_000014.8:g.77599161AC[19], NC_000014.8:g.77599161AC[20], NC_000014.8:g.77599161AC[21], NC_000014.8:g.77599161AC[22], NC_000014.8:g.77599161AC[23], XM_011536661.3:c.*839TG[10], XM_011536661.3:c.*839TG[11], XM_011536661.3:c.*839TG[12], XM_011536661.3:c.*839TG[13], XM_011536661.3:c.*839TG[15], XM_011536661.3:c.*839TG[16], XM_011536661.3:c.*839TG[17], XM_011536661.3:c.*839TG[18], XM_011536661.3:c.*839TG[19], XM_011536661.3:c.*839TG[20], XM_011536661.3:c.*839TG[21], XM_011536661.3:c.*839TG[22], XM_011536661.3:c.*839TG[23], XM_011536661.2:c.*839TG[10], XM_011536661.2:c.*839TG[11], XM_011536661.2:c.*839TG[12], XM_011536661.2:c.*839TG[13], XM_011536661.2:c.*839TG[15], XM_011536661.2:c.*839TG[16], XM_011536661.2:c.*839TG[17], XM_011536661.2:c.*839TG[18], XM_011536661.2:c.*839TG[19], XM_011536661.2:c.*839TG[20], XM_011536661.2:c.*839TG[21], XM_011536661.2:c.*839TG[22], XM_011536661.2:c.*839TG[23], XM_011536661.1:c.*839TG[10], XM_011536661.1:c.*839TG[11], XM_011536661.1:c.*839TG[12], XM_011536661.1:c.*839TG[13], XM_011536661.1:c.*839TG[15], XM_011536661.1:c.*839TG[16], XM_011536661.1:c.*839TG[17], XM_011536661.1:c.*839TG[18], XM_011536661.1:c.*839TG[19], XM_011536661.1:c.*839TG[20], XM_011536661.1:c.*839TG[21], XM_011536661.1:c.*839TG[22], XM_011536661.1:c.*839TG[23], NM_174976.2:c.*839TG[10], NM_174976.2:c.*839TG[11], NM_174976.2:c.*839TG[12], NM_174976.2:c.*839TG[13], NM_174976.2:c.*839TG[15], NM_174976.2:c.*839TG[16], NM_174976.2:c.*839TG[17], NM_174976.2:c.*839TG[18], NM_174976.2:c.*839TG[19], NM_174976.2:c.*839TG[20], NM_174976.2:c.*839TG[21], NM_174976.2:c.*839TG[22], NM_174976.2:c.*839TG[23], NM_001364172.1:c.*839TG[10], NM_001364172.1:c.*839TG[11], NM_001364172.1:c.*839TG[12], NM_001364172.1:c.*839TG[13], NM_001364172.1:c.*839TG[15], NM_001364172.1:c.*839TG[16], NM_001364172.1:c.*839TG[17], NM_001364172.1:c.*839TG[18], NM_001364172.1:c.*839TG[19], NM_001364172.1:c.*839TG[20], NM_001364172.1:c.*839TG[21], NM_001364172.1:c.*839TG[22], NM_001364172.1:c.*839TG[23]
3.
rs1491448032 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CTTTTT
[Show Flanks]
- Chromosome:
- 14:77147973
(GRCh38)
14:77614317
(GRCh37)
- Canonical SPDI:
- NC_000014.9:77147973:TTTTT:TTTTTCTTTTT
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTCTTTTT=0./0
(
ALFA)
TTTTTC=0.000004/1
(TOPMED)
TTTTTC=0.000117/1
(GnomAD)
- HGVS:
4.
rs1491361448 has merged into rs35783518 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,T,TT,TTT,TTTTT,TTTTTT
[Show Flanks]
- Chromosome:
- 14:77135485
(GRCh38)
14:77601828
(GRCh37)
- Canonical SPDI:
- NC_000014.9:77135473:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:77135473:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:77135473:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:77135473:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:77135473:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:77135473:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
- Gene:
- ZDHHC22 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTT=0./0
(
ALFA)
-=0.3/12
(GENOME_DK)
-=0.32215/192
(NorthernSweden)
- HGVS:
NC_000014.9:g.77135485_77135488del, NC_000014.9:g.77135486_77135488del, NC_000014.9:g.77135487_77135488del, NC_000014.9:g.77135488del, NC_000014.9:g.77135488dup, NC_000014.9:g.77135487_77135488dup, NC_000014.8:g.77601828_77601831del, NC_000014.8:g.77601829_77601831del, NC_000014.8:g.77601830_77601831del, NC_000014.8:g.77601831del, NC_000014.8:g.77601831dup, NC_000014.8:g.77601830_77601831dup
5.
rs1491203045 has merged into rs56914044 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 14:77147981
(GRCh38)
14:77614324
(GRCh37)
- Canonical SPDI:
- NC_000014.9:77147972:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000014.9:77147972:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:77147972:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:77147972:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:77147972:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:77147972:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:77147972:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:77147972:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:77147972:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:77147972:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:77147972:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:77147972:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:77147972:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:77147972:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:77147972:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:77147972:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:77147972:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:77147972:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:77147972:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:77147972:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:77147972:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:77147972:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:77147972:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:77147972:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:77147972:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:77147972:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000014.9:g.77147981_77147996del, NC_000014.9:g.77147985_77147996del, NC_000014.9:g.77147986_77147996del, NC_000014.9:g.77147987_77147996del, NC_000014.9:g.77147988_77147996del, NC_000014.9:g.77147989_77147996del, NC_000014.9:g.77147990_77147996del, NC_000014.9:g.77147991_77147996del, NC_000014.9:g.77147992_77147996del, NC_000014.9:g.77147993_77147996del, NC_000014.9:g.77147994_77147996del, NC_000014.9:g.77147995_77147996del, NC_000014.9:g.77147996del, NC_000014.9:g.77147996dup, NC_000014.9:g.77147995_77147996dup, NC_000014.9:g.77147994_77147996dup, NC_000014.9:g.77147993_77147996dup, NC_000014.9:g.77147992_77147996dup, NC_000014.9:g.77147991_77147996dup, NC_000014.9:g.77147990_77147996dup, NC_000014.9:g.77147989_77147996dup, NC_000014.9:g.77147988_77147996dup, NC_000014.9:g.77147987_77147996dup, NC_000014.9:g.77147986_77147996dup, NC_000014.9:g.77147985_77147996dup, NC_000014.9:g.77147984_77147996dup, NC_000014.8:g.77614324_77614339del, NC_000014.8:g.77614328_77614339del, NC_000014.8:g.77614329_77614339del, NC_000014.8:g.77614330_77614339del, NC_000014.8:g.77614331_77614339del, NC_000014.8:g.77614332_77614339del, NC_000014.8:g.77614333_77614339del, NC_000014.8:g.77614334_77614339del, NC_000014.8:g.77614335_77614339del, NC_000014.8:g.77614336_77614339del, NC_000014.8:g.77614337_77614339del, NC_000014.8:g.77614338_77614339del, NC_000014.8:g.77614339del, NC_000014.8:g.77614339dup, NC_000014.8:g.77614338_77614339dup, NC_000014.8:g.77614337_77614339dup, NC_000014.8:g.77614336_77614339dup, NC_000014.8:g.77614335_77614339dup, NC_000014.8:g.77614334_77614339dup, NC_000014.8:g.77614333_77614339dup, NC_000014.8:g.77614332_77614339dup, NC_000014.8:g.77614331_77614339dup, NC_000014.8:g.77614330_77614339dup, NC_000014.8:g.77614329_77614339dup, NC_000014.8:g.77614328_77614339dup, NC_000014.8:g.77614327_77614339dup
6.
rs1490987656 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:77145018
(GRCh38)
14:77611361
(GRCh37)
- Canonical SPDI:
- NC_000014.9:77145017:C:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
7.
rs1490559885 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 14:77137693
(GRCh38)
14:77604036
(GRCh37)
- Canonical SPDI:
- NC_000014.9:77137692:C:G
- Gene:
- ZDHHC22 (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:
9.
rs1490435075 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:77144127
(GRCh38)
14:77610470
(GRCh37)
- Canonical SPDI:
- NC_000014.9:77144126:A:G
- Gene:
- ZDHHC22 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000021/3
(GnomAD)
G=0.000038/10
(TOPMED)
G=0.000342/1
(KOREAN)
G=0.0023/39
(TOMMO)
- HGVS:
10.
rs1490169359 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:77145719
(GRCh38)
14:77612062
(GRCh37)
- Canonical SPDI:
- NC_000014.9:77145718:C:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
11.
rs1490138956 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:77146672
(GRCh38)
14:77613015
(GRCh37)
- Canonical SPDI:
- NC_000014.9:77146671:C:T
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
12.
rs1490138074 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTC>-
[Show Flanks]
- Chromosome:
- 14:77139517
(GRCh38)
14:77605860
(GRCh37)
- Canonical SPDI:
- NC_000014.9:77139513:GTCGTC:GTC
- Gene:
- ZDHHC22 (Varview)
- Functional Consequence:
- coding_sequence_variant,inframe_deletion
- Validated:
- by frequency
- MAF:
-=0.000004/1
(GnomAD_exomes)
- HGVS:
13.
rs1490130592 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:77138922
(GRCh38)
14:77605265
(GRCh37)
- Canonical SPDI:
- NC_000014.9:77138921:A:G
- Gene:
- ZDHHC22 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
14.
rs1489860612 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 14:77130803
(GRCh38)
14:77597146
(GRCh37)
- Canonical SPDI:
- NC_000014.9:77130802:G:T
- Gene:
- ZDHHC22 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
15.
rs1489803192 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 14:77137295
(GRCh38)
14:77603638
(GRCh37)
- Canonical SPDI:
- NC_000014.9:77137294:G:C
- Gene:
- ZDHHC22 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
16.
rs1489769351 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 14:77131397
(GRCh38)
14:77597740
(GRCh37)
- Canonical SPDI:
- NC_000014.9:77131396:C:A,NC_000014.9:77131396:C:T
- Gene:
- ZDHHC22 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
NC_000014.9:g.77131397C>A, NC_000014.9:g.77131397C>T, NC_000014.8:g.77597740C>A, NC_000014.8:g.77597740C>T, XM_011536661.3:c.*2286G>T, XM_011536661.3:c.*2286G>A, XM_011536661.2:c.*2286G>T, XM_011536661.2:c.*2286G>A, XM_011536661.1:c.*2286G>T, XM_011536661.1:c.*2286G>A, NM_174976.2:c.*2286G>T, NM_174976.2:c.*2286G>A, NM_001364172.1:c.*2286G>T, NM_001364172.1:c.*2286G>A
17.
rs1489750137 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 14:77138084
(GRCh38)
14:77604427
(GRCh37)
- Canonical SPDI:
- NC_000014.9:77138083:G:C
- Gene:
- ZDHHC22 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000029/4
(GnomAD)
- HGVS:
18.
rs1489276830 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GCATG>-
[Show Flanks]
- Chromosome:
- 14:77131776
(GRCh38)
14:77598119
(GRCh37)
- Canonical SPDI:
- NC_000014.9:77131772:ATGGCATG:ATG
- Gene:
- ZDHHC22 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATG=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000008/2
(TOPMED)
- HGVS:
19.
rs1489144172 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:77138013
(GRCh38)
14:77604356
(GRCh37)
- Canonical SPDI:
- NC_000014.9:77138012:C:T
- Gene:
- ZDHHC22 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
20.
rs1488983197 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:77135404
(GRCh38)
14:77601747
(GRCh37)
- Canonical SPDI:
- NC_000014.9:77135403:A:G
- Gene:
- ZDHHC22 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.001119/5
(
ALFA)
G=0.000029/4
(GnomAD)
G=0.001339/6
(Estonian)
- HGVS: