Links from Gene
Items: 1 to 20 of 5738
1.
rs1491040940 has merged into rs143634480 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-,ATAT,ATATAT,ATATATAT
[Show Flanks]
- Chromosome:
- 19:56543390
(GRCh38)
19:57054759
(GRCh37)
- Canonical SPDI:
- NC_000019.10:56543380:TATATATATAT:TATATATAT,NC_000019.10:56543380:TATATATATAT:TATATATATATAT,NC_000019.10:56543380:TATATATATAT:TATATATATATATAT,NC_000019.10:56543380:TATATATATAT:TATATATATATATATAT
- Gene:
- ZFP28 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATATATATATATAT=0./0
(
ALFA)
TA=0.2/8
(GENOME_DK)
TA=0.227296/876
(ALSPAC)
TA=0.231931/860
(TWINSUK)
TA=0.275/165
(NorthernSweden)
TA=0.292603/77449
(TOPMED)
TA=0.366813/1837
(1000Genomes)
- HGVS:
2.
rs1490829806 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:56542856
(GRCh38)
19:57054225
(GRCh37)
- Canonical SPDI:
- NC_000019.10:56542855:C:T
- Gene:
- ZFP28 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
3.
rs1490800673 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:56545735
(GRCh38)
19:57057104
(GRCh37)
- Canonical SPDI:
- NC_000019.10:56545734:G:A
- Gene:
- ZFP28 (Varview), ZNF470-DT (Varview)
- Functional Consequence:
- intron_variant,3_prime_UTR_variant
- Validated:
- by frequency
- MAF:
A=0.000007/1
(GnomAD)
- HGVS:
4.
rs1490378313 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:56546428
(GRCh38)
19:57057797
(GRCh37)
- Canonical SPDI:
- NC_000019.10:56546427:G:A
- Gene:
- ZFP28 (Varview), ZNF470-DT (Varview)
- Functional Consequence:
- intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
5.
rs1490316656 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 19:56538193
(GRCh38)
19:57049562
(GRCh37)
- Canonical SPDI:
- NC_000019.10:56538192:G:T
- Gene:
- ZFP28 (Varview), ZFP28-DT (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
T=0.00018/3
(TOMMO)
T=0.00068/2
(KOREAN)
T=0.00109/2
(Korea1K)
- HGVS:
6.
rs1490300322 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:56539311
(GRCh38)
19:57050680
(GRCh37)
- Canonical SPDI:
- NC_000019.10:56539310:G:A
- Gene:
- ZFP28 (Varview), ZFP28-DT (Varview)
- Functional Consequence:
- 2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
7.
rs1490279651 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:56555262
(GRCh38)
19:57066631
(GRCh37)
- Canonical SPDI:
- NC_000019.10:56555261:C:T
- Gene:
- ZFP28 (Varview), ZNF470-DT (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
NC_000019.10:g.56555262C>T, NC_000019.9:g.57066631C>T, XM_011526463.4:c.2450C>T, XM_011526463.3:c.2450C>T, XM_011526463.2:c.2450C>T, XM_011526463.1:c.2186C>T, XM_011526462.4:c.2186C>T, XM_011526462.3:c.2186C>T, XM_011526462.2:c.2186C>T, XM_011526462.1:c.2186C>T, NM_020828.2:c.2477C>T, NM_020828.1:c.2477C>T, XP_011524765.2:p.Ala817Val, XP_011524764.1:p.Ala729Val, NP_065879.1:p.Ala826Val
9.
rs1489870798 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,G
[Show Flanks]
- Chromosome:
- 19:56549494
(GRCh38)
19:57060863
(GRCh37)
- Canonical SPDI:
- NC_000019.10:56549493:T:A,NC_000019.10:56549493:T:G
- Gene:
- ZFP28 (Varview), ZNF470-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.002205/36
(
ALFA)
A=0.000008/2
(TOPMED)
G=0.000354/10
(TOMMO)
- HGVS:
10.
rs1489811133 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 19:56539014
(GRCh38)
19:57050383
(GRCh37)
- Canonical SPDI:
- NC_000019.10:56539013:G:A,NC_000019.10:56539013:G:T
- Gene:
- ZFP28 (Varview), ZFP28-DT (Varview)
- Functional Consequence:
- 2KB_upstream_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,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:
NC_000019.10:g.56539014G>A, NC_000019.10:g.56539014G>T, NC_000019.9:g.57050383G>A, NC_000019.9:g.57050383G>T, NM_020828.2:c.-5G>A, NM_020828.2:c.-5G>T, NM_020828.1:c.-5G>A, NM_020828.1:c.-5G>T, NM_001308440.2:c.-5G>A, NM_001308440.2:c.-5G>T, NM_001308440.1:c.-5G>A, NM_001308440.1:c.-5G>T
12.
rs1489246601 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:56556959
(GRCh38)
19:57068328
(GRCh37)
- Canonical SPDI:
- NC_000019.10:56556958:G:A
- Gene:
- ZFP28 (Varview), ZNF470-DT (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000015/4
(TOPMED)
- HGVS:
13.
rs1489111133 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:56540577
(GRCh38)
19:57051946
(GRCh37)
- Canonical SPDI:
- NC_000019.10:56540576:T:C
- Gene:
- ZFP28 (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:
14.
rs1489094902 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 19:56559565
(GRCh38)
19:57070934
(GRCh37)
- Canonical SPDI:
- NC_000019.10:56559564:A:C
- Gene:
- ZNF470-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.000019/5
(TOPMED)
- HGVS:
15.
rs1489069955 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:56555393
(GRCh38)
19:57066762
(GRCh37)
- Canonical SPDI:
- NC_000019.10:56555392:C:T
- Gene:
- ZFP28 (Varview), ZNF470-DT (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(GnomAD_exomes)
T=0.000015/4
(TOPMED)
- HGVS:
NC_000019.10:g.56555393C>T, NC_000019.9:g.57066762C>T, XM_011526463.4:c.*1C>T, XM_011526463.3:c.*1C>T, XM_011526463.2:c.*1C>T, XM_011526463.1:c.*1C>T, XM_011526462.4:c.*1C>T, XM_011526462.3:c.*1C>T, XM_011526462.2:c.*1C>T, XM_011526462.1:c.*1C>T, NM_020828.2:c.*1C>T, NM_020828.1:c.*1C>T
16.
rs1488937646 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:56538795
(GRCh38)
19:57050164
(GRCh37)
- Canonical SPDI:
- NC_000019.10:56538794:G:A
- Gene:
- ZFP28 (Varview), ZFP28-DT (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.00126/15
(
ALFA)
A=0.00027/27
(GnomAD)
A=0.00082/12
(TOMMO)
- HGVS:
17.
rs1488937444 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:56552819
(GRCh38)
19:57064188
(GRCh37)
- Canonical SPDI:
- NC_000019.10:56552818:C:T
- Gene:
- ZFP28 (Varview), ZNF470-DT (Varview)
- Functional Consequence:
- intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
18.
rs1488627174 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:56548145
(GRCh38)
19:57059514
(GRCh37)
- Canonical SPDI:
- NC_000019.10:56548144:G:A
- Gene:
- ZFP28 (Varview), ZNF470-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:
19.
rs1488588258 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 19:56547653
(GRCh38)
19:57059022
(GRCh37)
- Canonical SPDI:
- NC_000019.10:56547652:T:A
- Gene:
- ZFP28 (Varview), ZNF470-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)
A=0.000008/2
(GnomAD_exomes)
- HGVS:
20.
rs1488533564 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G,T
[Show Flanks]
- Chromosome:
- 19:56557043
(GRCh38)
19:57068412
(GRCh37)
- Canonical SPDI:
- NC_000019.10:56557042:C:A,NC_000019.10:56557042:C:G,NC_000019.10:56557042:C:T
- Gene:
- ZFP28 (Varview), ZNF470-DT (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000036/5
(GnomAD)
T=0.000312/2
(1000Genomes)
- HGVS: