Links from Gene
Items: 1 to 20 of 2493
2.
rs1490892171 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 9:128732635
(GRCh38)
9:131494914
(GRCh37)
- Canonical SPDI:
- NC_000009.12:128732634:G:T
- Gene:
- ZER1 (Varview), ZDHHC12-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
3.
rs1490787027 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:128724631
(GRCh38)
9:131486910
(GRCh37)
- Canonical SPDI:
- NC_000009.12:128724630:T:C
- Gene:
- ZDHHC12 (Varview), ZDHHC12-DT (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000283/5
(TOMMO)
- HGVS:
4.
rs1490603284 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 9:128723476
(GRCh38)
9:131485755
(GRCh37)
- Canonical SPDI:
- NC_000009.12:128723475:T:G
- Gene:
- ZDHHC12 (Varview), ZDHHC12-DT (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.00481/57
(
ALFA)
G=0.00043/7
(TOMMO)
G=0.01341/39
(KOREAN)
- HGVS:
5.
rs1490601913 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CTCCGCTGTGCCCTCCCCCGCG>-,CTCCGCTGTGCCCTCCCCCGCGCTCCGCTGTGCCCTCCCCCGCG
[Show Flanks]
- Chromosome:
- 9:128724386
(GRCh38)
9:131486665
(GRCh37)
- Canonical SPDI:
- NC_000009.12:128724374:CCTCCCCCGCGCTCCGCTGTGCCCTCCCCCGCG:CCTCCCCCGCG,NC_000009.12:128724374:CCTCCCCCGCGCTCCGCTGTGCCCTCCCCCGCG:CCTCCCCCGCGCTCCGCTGTGCCCTCCCCCGCGCTCCGCTGTGCCCTCCCCCGCG
- Gene:
- ZDHHC12 (Varview), ZDHHC12-DT (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCTCCCCCGCG=0./0
(
ALFA)
CCTCCCCCGCGCTCCGCTGTGC=0.00021/4
(TOMMO)
CCTCCCCCGCGCTCCGCTGTGC=0.00056/1
(Korea1K)
- HGVS:
6.
rs1490110858 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 9:128725513
(GRCh38)
9:131487792
(GRCh37)
- Canonical SPDI:
- NC_000009.12:128725512:A:T
- Gene:
- ZDHHC12 (Varview), ZDHHC12-DT (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency
- MAF:
T=0.00074/21
(TOMMO)
- HGVS:
7.
rs1490041083 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 9:128726209
(GRCh38)
9:131488488
(GRCh37)
- Canonical SPDI:
- NC_000009.12:128726208:C:G,NC_000009.12:128726208:C:T
- Gene:
- ZDHHC12-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
G=0.000071/2
(TOMMO)
- HGVS:
8.
rs1489701111 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 9:128733019
(GRCh38)
9:131495298
(GRCh37)
- Canonical SPDI:
- NC_000009.12:128733018:AAA:AA
- Gene:
- ZER1 (Varview), ZDHHC12-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
9.
rs1489513610 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 9:128730379
(GRCh38)
9:131492658
(GRCh37)
- Canonical SPDI:
- NC_000009.12:128730378:G:C
- Gene:
- ZER1 (Varview), ZDHHC12-DT (Varview)
- Functional Consequence:
- intron_variant,3_prime_UTR_variant
- Validated:
- by frequency
- MAF:
C=0.000007/1
(GnomAD)
- HGVS:
NC_000009.12:g.128730379G>C, NC_000009.11:g.131492658G>C, NM_006336.4:c.*958C>G, NM_006336.3:c.*958C>G, XM_017014187.3:c.*958C>G, XM_017014187.2:c.*958C>G, XM_017014187.1:c.*958C>G, XM_017014188.2:c.*958C>G, XM_017014188.1:c.*958C>G, NM_001375955.1:c.*958C>G, NM_001375957.1:c.*958C>G, NM_001375956.1:c.*958C>G, NM_001375954.1:c.*958C>G, NM_001375958.1:c.*958C>G, NM_001375959.1:c.*958C>G
10.
rs1488718748 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 9:128733617
(GRCh38)
9:131495896
(GRCh37)
- Canonical SPDI:
- NC_000009.12:128733616:C:A
- Gene:
- ZER1 (Varview), ZDHHC12-DT (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant,intron_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.
rs1488105924 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:128723077
(GRCh38)
9:131485356
(GRCh37)
- Canonical SPDI:
- NC_000009.12:128723076:T:C
- Gene:
- ZDHHC12 (Varview), ZDHHC12-DT (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000224/1
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000223/1
(Estonian)
- HGVS:
12.
rs1487781239 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:128731162
(GRCh38)
9:131493441
(GRCh37)
- Canonical SPDI:
- NC_000009.12:128731161:A:G
- Gene:
- ZER1 (Varview), ZDHHC12-DT (Varview)
- Functional Consequence:
- intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
NC_000009.12:g.128731162A>G, NC_000009.11:g.131493441A>G, NM_006336.4:c.*175T>C, NM_006336.3:c.*175T>C, XM_017014187.3:c.*175T>C, XM_017014187.2:c.*175T>C, XM_017014187.1:c.*175T>C, XM_017014188.2:c.*175T>C, XM_017014188.1:c.*175T>C, NM_001375955.1:c.*175T>C, NM_001375957.1:c.*175T>C, NM_001375956.1:c.*175T>C, NM_001375954.1:c.*175T>C, NM_001375958.1:c.*175T>C, NM_001375959.1:c.*175T>C
13.
rs1487649839 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:128730215
(GRCh38)
9:131492494
(GRCh37)
- Canonical SPDI:
- NC_000009.12:128730214:G:A
- Gene:
- ZER1 (Varview), ZDHHC12-DT (Varview)
- Functional Consequence:
- intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.00003/8
(TOPMED)
A=0.000036/5
(GnomAD)
A=0.000342/1
(KOREAN)
- HGVS:
NC_000009.12:g.128730215G>A, NC_000009.11:g.131492494G>A, NM_006336.4:c.*1122C>T, NM_006336.3:c.*1122C>T, XM_017014187.3:c.*1122C>T, XM_017014187.2:c.*1122C>T, XM_017014187.1:c.*1122C>T, XM_017014188.2:c.*1122C>T, XM_017014188.1:c.*1122C>T, NM_001375955.1:c.*1122C>T, NM_001375957.1:c.*1122C>T, NM_001375956.1:c.*1122C>T, NM_001375954.1:c.*1122C>T, NM_001375958.1:c.*1122C>T, NM_001375959.1:c.*1122C>T
14.
rs1487599544 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->GC
[Show Flanks]
- Chromosome:
- 9:128727982
(GRCh38)
9:131490262
(GRCh37)
- Canonical SPDI:
- NC_000009.12:128727982::GC
- Gene:
- ZDHHC12-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GC=0./0
(
ALFA)
GC=0.000007/1
(GnomAD)
GC=0.000008/2
(TOPMED)
- HGVS:
15.
rs1487528679 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:128726204
(GRCh38)
9:131488483
(GRCh37)
- Canonical SPDI:
- NC_000009.12:128726203:G:A
- Gene:
- ZDHHC12-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
16.
rs1487347426 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:128723973
(GRCh38)
9:131486252
(GRCh37)
- Canonical SPDI:
- NC_000009.12:128723972:G:A
- Gene:
- ZDHHC12 (Varview), ZDHHC12-DT (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
17.
rs1487121688 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:128731949
(GRCh38)
9:131494228
(GRCh37)
- Canonical SPDI:
- NC_000009.12:128731948:T:C
- Gene:
- ZER1 (Varview), ZDHHC12-DT (Varview)
- Functional Consequence:
- 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.
rs1487018049 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:128727138
(GRCh38)
9:131489417
(GRCh37)
- Canonical SPDI:
- NC_000009.12:128727137:A:G
- Gene:
- ZDHHC12-DT (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:
19.
rs1486415993 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:128732979
(GRCh38)
9:131495258
(GRCh37)
- Canonical SPDI:
- NC_000009.12:128732978:A:G
- Gene:
- ZER1 (Varview), ZDHHC12-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0./0
(KOREAN)
G=0.000014/2
(GnomAD)
G=0.000042/11
(TOPMED)
- HGVS:
20.
rs1486365839 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:128728189
(GRCh38)
9:131490468
(GRCh37)
- Canonical SPDI:
- NC_000009.12:128728188:C:T
- Gene:
- ZDHHC12-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS: