Links from Gene
Items: 1 to 20 of 1000
2.
rs1490627448 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 19:58468281
(GRCh38)
19:58979648
(GRCh37)
- Canonical SPDI:
- NC_000019.10:58468280:G:C
- Gene:
- ZNF324 (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:
3.
rs1490251408 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:58468667
(GRCh38)
19:58980034
(GRCh37)
- Canonical SPDI:
- NC_000019.10:58468666:C:T
- Gene:
- ZNF324 (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:
4.
rs1489882508 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:58472538
(GRCh38)
19:58983905
(GRCh37)
- Canonical SPDI:
- NC_000019.10:58472537:A:G
- Gene:
- ZNF324 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
5.
rs1489623927 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:58470698
(GRCh38)
19:58982065
(GRCh37)
- Canonical SPDI:
- NC_000019.10:58470697:T:C
- Gene:
- ZNF324 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
6.
rs1489506286 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 19:58473196
(GRCh38)
19:58984563
(GRCh37)
- Canonical SPDI:
- NC_000019.10:58473195:C:G,NC_000019.10:58473195:C:T
- Gene:
- ZNF324 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000019.10:g.58473196C>G, NC_000019.10:g.58473196C>T, NC_000019.9:g.58984563C>G, NC_000019.9:g.58984563C>T, XM_005258713.5:c.*1042C>G, XM_005258713.5:c.*1042C>T, XM_005258713.4:c.*1042C>G, XM_005258713.4:c.*1042C>T, XM_005258713.3:c.*1042C>G, XM_005258713.3:c.*1042C>T, XM_005258713.2:c.*1042C>G, XM_005258713.2:c.*1042C>T, XM_005258713.1:c.*1042C>G, XM_005258713.1:c.*1042C>T, NM_014347.3:c.*1042C>G, NM_014347.3:c.*1042C>T, NM_014347.2:c.*1042C>G, NM_014347.2:c.*1042C>T
7.
rs1489475813 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- ATGACAGTGGATGCTAAG>-
[Show Flanks]
- Chromosome:
- 19:58472475
(GRCh38)
19:58983842
(GRCh37)
- Canonical SPDI:
- NC_000019.10:58472474:ATGACAGTGGATGCTAAG:
- Gene:
- ZNF324 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
-=0.000106/2
(TOMMO)
- HGVS:
8.
rs1488987846 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 19:58467489
(GRCh38)
19:58978856
(GRCh37)
- Canonical SPDI:
- NC_000019.10:58467488:G:C
- Gene:
- ZNF324 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000057/8
(GnomAD)
- HGVS:
10.
rs1488279001 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TCCA>-
[Show Flanks]
- Chromosome:
- 19:58472616
(GRCh38)
19:58983983
(GRCh37)
- Canonical SPDI:
- NC_000019.10:58472613:CATCCA:CA
- Gene:
- ZNF324 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
CA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
11.
rs1488232351 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:58469810
(GRCh38)
19:58981177
(GRCh37)
- Canonical SPDI:
- NC_000019.10:58469809:C:T
- Gene:
- ZNF324 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(GnomAD_exomes)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
12.
rs1487990799 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATTTTATGT>-
[Show Flanks]
- Chromosome:
- 19:58469070
(GRCh38)
19:58980437
(GRCh37)
- Canonical SPDI:
- NC_000019.10:58469065:ATGTATTTTATGT:ATGT
- Gene:
- ZNF324 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATGT=0./0
(
ALFA)
-=0.000036/5
(GnomAD)
-=0.000042/11
(TOPMED)
- HGVS:
13.
rs1487523888 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 19:58467082
(GRCh38)
19:58978449
(GRCh37)
- Canonical SPDI:
- NC_000019.10:58467081:T:G
- Gene:
- ZNF324 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
14.
rs1487512097 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 19:58466256
(GRCh38)
19:58977624
(GRCh37)
- Canonical SPDI:
- NC_000019.10:58466256:G:GG
- Gene:
- ZNF324 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
GG=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
15.
rs1487298015 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 19:58472330
(GRCh38)
19:58983697
(GRCh37)
- Canonical SPDI:
- NC_000019.10:58472329:A:C
- Gene:
- ZNF324 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000019/5
(TOPMED)
C=0.000043/6
(GnomAD)
- HGVS:
16.
rs1486882318 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 19:58465293
(GRCh38)
19:58976660
(GRCh37)
- Canonical SPDI:
- NC_000019.10:58465292:A:C
- Gene:
- ZNF324 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
18.
rs1486513666 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 19:58469758
(GRCh38)
19:58981125
(GRCh37)
- Canonical SPDI:
- NC_000019.10:58469757:T:A
- Gene:
- ZNF324 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- HGVS:
NC_000019.10:g.58469758T>A, NC_000019.9:g.58981125T>A, XM_005258713.5:c.167T>A, XM_005258713.4:c.167T>A, XM_005258713.3:c.167T>A, XM_005258713.2:c.167T>A, XM_005258713.1:c.167T>A, NM_014347.3:c.152T>A, NM_014347.2:c.152T>A, XP_005258770.1:p.Ile56Asn, NP_055162.1:p.Ile51Asn
19.
rs1486385447 has merged into rs10590748 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 19:58465104
(GRCh38)
19:58976471
(GRCh37)
- Canonical SPDI:
- NC_000019.10:58465093:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:58465093:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:58465093:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:58465093:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:58465093:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:58465093:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:58465093:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:58465093:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:58465093:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:58465093:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:58465093:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:58465093:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58465093:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58465093:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58465093:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58465093:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ZNF324 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000019.10:g.58465104_58465115del, NC_000019.10:g.58465105_58465115del, NC_000019.10:g.58465106_58465115del, NC_000019.10:g.58465107_58465115del, NC_000019.10:g.58465108_58465115del, NC_000019.10:g.58465109_58465115del, NC_000019.10:g.58465110_58465115del, NC_000019.10:g.58465111_58465115del, NC_000019.10:g.58465112_58465115del, NC_000019.10:g.58465113_58465115del, NC_000019.10:g.58465114_58465115del, NC_000019.10:g.58465115del, NC_000019.10:g.58465115dup, NC_000019.10:g.58465114_58465115dup, NC_000019.10:g.58465113_58465115dup, NC_000019.10:g.58465112_58465115dup, NC_000019.9:g.58976471_58976482del, NC_000019.9:g.58976472_58976482del, NC_000019.9:g.58976473_58976482del, NC_000019.9:g.58976474_58976482del, NC_000019.9:g.58976475_58976482del, NC_000019.9:g.58976476_58976482del, NC_000019.9:g.58976477_58976482del, NC_000019.9:g.58976478_58976482del, NC_000019.9:g.58976479_58976482del, NC_000019.9:g.58976480_58976482del, NC_000019.9:g.58976481_58976482del, NC_000019.9:g.58976482del, NC_000019.9:g.58976482dup, NC_000019.9:g.58976481_58976482dup, NC_000019.9:g.58976480_58976482dup, NC_000019.9:g.58976479_58976482dup
20.
rs1486274018 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:58468741
(GRCh38)
19:58980108
(GRCh37)
- Canonical SPDI:
- NC_000019.10:58468740:C:T
- Gene:
- ZNF324 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS: