Links from Gene
Items: 1 to 20 of 1000
1.
rs1491503297 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TC>-
[Show Flanks]
- Chromosome:
- 2:186508009
(GRCh38)
2:187372736
(GRCh37)
- Canonical SPDI:
- NC_000002.12:186508004:TCTCTC:TCTC
- Gene:
- ZC3H15 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCTC=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS:
3.
rs1491281798 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 2:186508005
(GRCh38)
2:187372733
(GRCh37)
- Canonical SPDI:
- NC_000002.12:186508005:C:CC
- Gene:
- ZC3H15 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CC=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
4.
rs1491272259 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 2:186497062
(GRCh38)
2:187361789
(GRCh37)
- Canonical SPDI:
- NC_000002.12:186497061:CT:
- Gene:
- ZC3H15 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000021/3
(GnomAD)
-=0.000023/6
(TOPMED)
- HGVS:
6.
rs1490777021 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:186501246
(GRCh38)
2:187365973
(GRCh37)
- Canonical SPDI:
- NC_000002.12:186501245:A:G
- Gene:
- ZC3H15 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
7.
rs1490740981 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:186498849
(GRCh38)
2:187363576
(GRCh37)
- Canonical SPDI:
- NC_000002.12:186498848:C:T
- Gene:
- ZC3H15 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
T=0.000007/1
(GnomAD)
- HGVS:
8.
rs1490430502 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:186507852
(GRCh38)
2:187372579
(GRCh37)
- Canonical SPDI:
- NC_000002.12:186507851:A:G
- Gene:
- ZC3H15 (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.
rs1490401075 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 2:186499684
(GRCh38)
2:187364411
(GRCh37)
- Canonical SPDI:
- NC_000002.12:186499683:A:T
- Gene:
- ZC3H15 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.00001/1
(GnomAD_exomes)
T=0.000011/3
(TOPMED)
T=0.000029/4
(GnomAD)
- HGVS:
10.
rs1490377022 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 2:186491498
(GRCh38)
2:187356225
(GRCh37)
- Canonical SPDI:
- NC_000002.12:186491497:G:T
- Gene:
- ZC3H15 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
11.
rs1489721602 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:186496377
(GRCh38)
2:187361104
(GRCh37)
- Canonical SPDI:
- NC_000002.12:186496376:C:T
- Gene:
- ZC3H15 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
12.
rs1489615538 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:186501324
(GRCh38)
2:187366051
(GRCh37)
- Canonical SPDI:
- NC_000002.12:186501323:C:T
- Gene:
- ZC3H15 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
13.
rs1489567413 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:186486595
(GRCh38)
2:187351322
(GRCh37)
- Canonical SPDI:
- NC_000002.12:186486594:C:T
- Gene:
- ZC3H15 (Varview), LOC105373785 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/1
(GnomAD)
T=0.000015/4
(TOPMED)
- HGVS:
14.
rs1489565343 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 2:186486741
(GRCh38)
2:187351469
(GRCh37)
- Canonical SPDI:
- NC_000002.12:186486741:TTTT:TTTTT
- Gene:
- ZC3H15 (Varview), LOC105373785 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
TTTTT=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
15.
rs1489488801 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:186486523
(GRCh38)
2:187351250
(GRCh37)
- Canonical SPDI:
- NC_000002.12:186486522:C:T
- Gene:
- ZC3H15 (Varview), LOC105373785 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
16.
rs1489349492 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:186492828
(GRCh38)
2:187357555
(GRCh37)
- Canonical SPDI:
- NC_000002.12:186492827:A:G
- Gene:
- ZC3H15 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000064/9
(GnomAD)
- HGVS:
17.
rs1489319805 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 2:186498302
(GRCh38)
2:187363029
(GRCh37)
- Canonical SPDI:
- NC_000002.12:186498301:G:T
- Gene:
- ZC3H15 (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)
- HGVS:
18.
rs1488835508 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:186485641
(GRCh38)
2:187350368
(GRCh37)
- Canonical SPDI:
- NC_000002.12:186485640:A:G
- Gene:
- ZC3H15 (Varview), LOC105373785 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
19.
rs1488816768 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:186494961
(GRCh38)
2:187359688
(GRCh37)
- Canonical SPDI:
- NC_000002.12:186494960:T:C
- Gene:
- ZC3H15 (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:
20.
rs1488715549 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:186494069
(GRCh38)
2:187358796
(GRCh37)
- Canonical SPDI:
- NC_000002.12:186494068:T:C
- Gene:
- ZC3H15 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS: