Links from Gene
Items: 1 to 20 of 1000
1.
rs1491577581 has merged into rs371588622 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ACACACACACACACACACACACACACACAC>-,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACAC
[Show Flanks]
- Chromosome:
- 19:9523030
(GRCh38)
19:9633706
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC
- Gene:
- ZNF426 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CACACACACACACAC=0./0
(
ALFA)
- HGVS:
NC_000019.10:g.9523020AC[5], NC_000019.10:g.9523020AC[7], NC_000019.10:g.9523020AC[8], NC_000019.10:g.9523020AC[9], NC_000019.10:g.9523020AC[10], NC_000019.10:g.9523020AC[11], NC_000019.10:g.9523020AC[12], NC_000019.10:g.9523020AC[13], NC_000019.10:g.9523020AC[14], NC_000019.10:g.9523020AC[15], NC_000019.10:g.9523020AC[16], NC_000019.10:g.9523020AC[17], NC_000019.10:g.9523020AC[18], NC_000019.10:g.9523020AC[19], NC_000019.10:g.9523020AC[21], NC_000019.10:g.9523020AC[22], NC_000019.10:g.9523020AC[23], NC_000019.10:g.9523020AC[24], NC_000019.10:g.9523020AC[25], NC_000019.10:g.9523020AC[26], NC_000019.10:g.9523020AC[27], NC_000019.10:g.9523020AC[28], NC_000019.10:g.9523020AC[30], NC_000019.10:g.9523020AC[31], NC_000019.9:g.9633696AC[5], NC_000019.9:g.9633696AC[7], NC_000019.9:g.9633696AC[8], NC_000019.9:g.9633696AC[9], NC_000019.9:g.9633696AC[10], NC_000019.9:g.9633696AC[11], NC_000019.9:g.9633696AC[12], NC_000019.9:g.9633696AC[13], NC_000019.9:g.9633696AC[14], NC_000019.9:g.9633696AC[15], NC_000019.9:g.9633696AC[16], NC_000019.9:g.9633696AC[17], NC_000019.9:g.9633696AC[18], NC_000019.9:g.9633696AC[19], NC_000019.9:g.9633696AC[21], NC_000019.9:g.9633696AC[22], NC_000019.9:g.9633696AC[23], NC_000019.9:g.9633696AC[24], NC_000019.9:g.9633696AC[25], NC_000019.9:g.9633696AC[26], NC_000019.9:g.9633696AC[27], NC_000019.9:g.9633696AC[28], NC_000019.9:g.9633696AC[30], NC_000019.9:g.9633696AC[31]
2.
rs1491183334 has merged into rs371588622 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ACACACACACACACACACACACACACACAC>-,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACAC
[Show Flanks]
- Chromosome:
- 19:9523030
(GRCh38)
19:9633706
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000019.10:9523018:CACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC
- Gene:
- ZNF426 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CACACACACACACAC=0./0
(
ALFA)
- HGVS:
NC_000019.10:g.9523020AC[5], NC_000019.10:g.9523020AC[7], NC_000019.10:g.9523020AC[8], NC_000019.10:g.9523020AC[9], NC_000019.10:g.9523020AC[10], NC_000019.10:g.9523020AC[11], NC_000019.10:g.9523020AC[12], NC_000019.10:g.9523020AC[13], NC_000019.10:g.9523020AC[14], NC_000019.10:g.9523020AC[15], NC_000019.10:g.9523020AC[16], NC_000019.10:g.9523020AC[17], NC_000019.10:g.9523020AC[18], NC_000019.10:g.9523020AC[19], NC_000019.10:g.9523020AC[21], NC_000019.10:g.9523020AC[22], NC_000019.10:g.9523020AC[23], NC_000019.10:g.9523020AC[24], NC_000019.10:g.9523020AC[25], NC_000019.10:g.9523020AC[26], NC_000019.10:g.9523020AC[27], NC_000019.10:g.9523020AC[28], NC_000019.10:g.9523020AC[30], NC_000019.10:g.9523020AC[31], NC_000019.9:g.9633696AC[5], NC_000019.9:g.9633696AC[7], NC_000019.9:g.9633696AC[8], NC_000019.9:g.9633696AC[9], NC_000019.9:g.9633696AC[10], NC_000019.9:g.9633696AC[11], NC_000019.9:g.9633696AC[12], NC_000019.9:g.9633696AC[13], NC_000019.9:g.9633696AC[14], NC_000019.9:g.9633696AC[15], NC_000019.9:g.9633696AC[16], NC_000019.9:g.9633696AC[17], NC_000019.9:g.9633696AC[18], NC_000019.9:g.9633696AC[19], NC_000019.9:g.9633696AC[21], NC_000019.9:g.9633696AC[22], NC_000019.9:g.9633696AC[23], NC_000019.9:g.9633696AC[24], NC_000019.9:g.9633696AC[25], NC_000019.9:g.9633696AC[26], NC_000019.9:g.9633696AC[27], NC_000019.9:g.9633696AC[28], NC_000019.9:g.9633696AC[30], NC_000019.9:g.9633696AC[31]
3.
rs1491156662 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AC,ACAC,ACACACACAC,CC
[Show Flanks]
- Chromosome:
- 19:9523016
(GRCh38)
19:9633693
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9523016:C:CAC,NC_000019.10:9523016:C:CACAC,NC_000019.10:9523016:C:CACACACACAC,NC_000019.10:9523016:C:CCC
- Gene:
- ZNF426 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CACAC=0./0
(
ALFA)
CACACACACA=0.00007/1
(TOMMO)
- HGVS:
4.
rs1490802709 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:9538938
(GRCh38)
19:9649614
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9538937:C:T
- Gene:
- ZNF426 (Varview), ZNF426-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
5.
rs1490661841 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 19:9527453
(GRCh38)
19:9638129
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9527452:G:A,NC_000019.10:9527452:G:T
- Gene:
- ZNF426 (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_000019.10:g.9527453G>A, NC_000019.10:g.9527453G>T, NC_000019.9:g.9638129G>A, NC_000019.9:g.9638129G>T, NM_001300883.3:c.*927C>T, NM_001300883.3:c.*927C>A, NM_001300883.2:c.*927C>T, NM_001300883.2:c.*927C>A, NM_024106.3:c.*927C>T, NM_024106.3:c.*927C>A, NM_024106.2:c.*927C>T, NM_024106.2:c.*927C>A, NM_001318056.2:c.*2152C>T, NM_001318056.2:c.*2152C>A, NM_001318056.1:c.*2152C>T, NM_001318056.1:c.*2152C>A, NM_001318055.2:c.*927C>T, NM_001318055.2:c.*927C>A, NM_001318055.1:c.*927C>T, NM_001318055.1:c.*927C>A
6.
rs1490426432 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 19:9524753
(GRCh38)
19:9635429
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9524752:C:A
- Gene:
- ZNF426 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000032/4
(GnomAD)
- HGVS:
7.
rs1490407449 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GAGT>-
[Show Flanks]
- Chromosome:
- 19:9528305
(GRCh38)
19:9638981
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9528300:GAGTGAGT:GAGT
- Gene:
- ZNF426 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GAGTGAGT=0./0
(
ALFA)
-=0.000014/2
(GnomAD)
-=0.000023/6
(TOPMED)
- HGVS:
NC_000019.10:g.9528301GAGT[1], NC_000019.9:g.9638977GAGT[1], NM_001300883.3:c.*72ACTC[1], NM_001300883.2:c.*72ACTC[1], NM_001300883.1:c.*72ACTC[1], NM_024106.3:c.*72ACTC[1], NM_024106.2:c.*72ACTC[1], NM_024106.1:c.*72ACTC[1], NM_001318056.2:c.*1297ACTC[1], NM_001318056.1:c.*1297ACTC[1], NM_001318055.2:c.*72ACTC[1], NM_001318055.1:c.*72ACTC[1]
8.
rs1490263612 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 19:9523710
(GRCh38)
19:9634386
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9523709:G:C
- Gene:
- ZNF426 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
9.
rs1489971884 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:9534518
(GRCh38)
19:9645194
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9534517:A:G
- Gene:
- ZNF426 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
10.
rs1489668692 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:9538959
(GRCh38)
19:9649635
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9538958:A:G
- Gene:
- ZNF426 (Varview), ZNF426-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000066/1
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
G=0.000223/1
(Estonian)
- HGVS:
11.
rs1489645799 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:9530200
(GRCh38)
19:9640876
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9530199:C:T
- Gene:
- ZNF426 (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:
12.
rs1489375914 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 19:9537126
(GRCh38)
19:9647802
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9537125:T:A
- Gene:
- ZNF426 (Varview), ZNF426-DT (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.0002/1
(
ALFA)
A=0.0002/1
(Estonian)
- HGVS:
13.
rs1489077025 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:9530583
(GRCh38)
19:9641259
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9530582:A:G
- Gene:
- ZNF426 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000015/4
(TOPMED)
- HGVS:
14.
rs1488875011 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:9536419
(GRCh38)
19:9647095
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9536418:C:T
- Gene:
- ZNF426 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
T=0.000212/4
(TOMMO)
- HGVS:
15.
rs1488325841 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 19:9536938
(GRCh38)
19:9647614
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9536937:G:A,NC_000019.10:9536937:G:T
- Gene:
- ZNF426 (Varview), ZNF426-DT (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
T=0.00006/1
(TOMMO)
- HGVS:
16.
rs1488283800 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:9529624
(GRCh38)
19:9640300
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9529623:T:C
- Gene:
- ZNF426 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000019.10:g.9529624T>C, NC_000019.9:g.9640300T>C, NM_001300883.3:c.307A>G, NM_001300883.2:c.307A>G, NM_001300883.1:c.307A>G, NM_024106.3:c.421A>G, NM_024106.2:c.421A>G, NM_024106.1:c.421A>G, NM_001318056.2:c.338A>G, NM_001318056.1:c.338A>G, NM_001318055.2:c.88A>G, NM_001318055.1:c.88A>G, NP_001287812.1:p.Asn103Asp, NP_077011.1:p.Asn141Asp, NP_001304985.1:p.Gln113Arg, NP_001304984.1:p.Asn30Asp
17.
rs1488233881 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:9528932
(GRCh38)
19:9639608
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9528931:T:C
- Gene:
- ZNF426 (Varview)
- Functional Consequence:
- synonymous_variant,3_prime_UTR_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(GnomAD_exomes)
C=0.000004/1
(TOPMED)
- HGVS:
NC_000019.10:g.9528932T>C, NC_000019.9:g.9639608T>C, NM_001300883.3:c.999A>G, NM_001300883.2:c.999A>G, NM_001300883.1:c.999A>G, NM_024106.3:c.1113A>G, NM_024106.2:c.1113A>G, NM_024106.1:c.1113A>G, NM_001318056.2:c.*673A>G, NM_001318056.1:c.*673A>G, NM_001318055.2:c.780A>G, NM_001318055.1:c.780A>G
18.
rs1488186519 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:9535336
(GRCh38)
19:9646012
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9535335:T:C
- Gene:
- ZNF426 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
20.
rs1487706406 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:9537002
(GRCh38)
19:9647678
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9537001:C:T
- Gene:
- ZNF426 (Varview), ZNF426-DT (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000026/7
(TOPMED)
- HGVS: