Links from Gene
Items: 1 to 20 of 6462
1.
rs1491441433 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 1:173891442
(GRCh38)
1:173860580
(GRCh37)
- Canonical SPDI:
- NC_000001.11:173891440:ATA:A
- Gene:
- ZBTB37 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0.000045/12
(TOPMED)
-=0.000058/8
(GnomAD)
- HGVS:
NC_000001.11:g.173891442_173891443del, NC_000001.10:g.173860580_173860581del, NM_032522.5:c.*17813_*17814del, XM_006711578.5:c.*5318_*5319del, XM_006711578.4:c.*5318_*5319del, XM_011510062.4:c.*5803_*5804del, XM_011510062.3:c.*5803_*5804del, NM_001122770.3:c.*5318_*5319del, NM_001346115.2:c.*5803_*5804del, XM_017002557.2:c.*5803_*5804del, NM_001369846.1:c.*5803_*5804del, NM_001395199.1:c.*5318_*5319del, XM_047432197.1:c.*5803_*5804del
2.
rs1491238576 has merged into rs71111072 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG>-,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
[Show Flanks]
- Chromosome:
- 1:173875129
(GRCh38)
1:173844267
(GRCh37)
- Canonical SPDI:
- NC_000001.11:173875116:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTG,NC_000001.11:173875116:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTG,NC_000001.11:173875116:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTG,NC_000001.11:173875116:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:173875116:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:173875116:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:173875116:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:173875116:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:173875116:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:173875116:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:173875116:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:173875116:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:173875116:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:173875116:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:173875116:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:173875116:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:173875116:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:173875116:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:173875116:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:173875116:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
- Gene:
- ZBTB37 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTG=0./0
(
ALFA)
TGTGTG=0.425/17
(GENOME_DK)
- HGVS:
NC_000001.11:g.173875117TG[6], NC_000001.11:g.173875117TG[9], NC_000001.11:g.173875117TG[10], NC_000001.11:g.173875117TG[11], NC_000001.11:g.173875117TG[12], NC_000001.11:g.173875117TG[13], NC_000001.11:g.173875117TG[14], NC_000001.11:g.173875117TG[15], NC_000001.11:g.173875117TG[16], NC_000001.11:g.173875117TG[17], NC_000001.11:g.173875117TG[18], NC_000001.11:g.173875117TG[19], NC_000001.11:g.173875117TG[20], NC_000001.11:g.173875117TG[21], NC_000001.11:g.173875117TG[23], NC_000001.11:g.173875117TG[24], NC_000001.11:g.173875117TG[25], NC_000001.11:g.173875117TG[26], NC_000001.11:g.173875117TG[27], NC_000001.11:g.173875117TG[28], NC_000001.10:g.173844255TG[6], NC_000001.10:g.173844255TG[9], NC_000001.10:g.173844255TG[10], NC_000001.10:g.173844255TG[11], NC_000001.10:g.173844255TG[12], NC_000001.10:g.173844255TG[13], NC_000001.10:g.173844255TG[14], NC_000001.10:g.173844255TG[15], NC_000001.10:g.173844255TG[16], NC_000001.10:g.173844255TG[17], NC_000001.10:g.173844255TG[18], NC_000001.10:g.173844255TG[19], NC_000001.10:g.173844255TG[20], NC_000001.10:g.173844255TG[21], NC_000001.10:g.173844255TG[23], NC_000001.10:g.173844255TG[24], NC_000001.10:g.173844255TG[25], NC_000001.10:g.173844255TG[26], NC_000001.10:g.173844255TG[27], NC_000001.10:g.173844255TG[28], NM_032522.5:c.*1488TG[6], NM_032522.5:c.*1488TG[9], NM_032522.5:c.*1488TG[10], NM_032522.5:c.*1488TG[11], NM_032522.5:c.*1488TG[12], NM_032522.5:c.*1488TG[13], NM_032522.5:c.*1488TG[14], NM_032522.5:c.*1488TG[15], NM_032522.5:c.*1488TG[16], NM_032522.5:c.*1488TG[17], NM_032522.5:c.*1488TG[18], NM_032522.5:c.*1488TG[19], NM_032522.5:c.*1488TG[20], NM_032522.5:c.*1488TG[21], NM_032522.5:c.*1488TG[23], NM_032522.5:c.*1488TG[24], NM_032522.5:c.*1488TG[25], NM_032522.5:c.*1488TG[26], NM_032522.5:c.*1488TG[27], NM_032522.5:c.*1488TG[28]
3.
rs1490891813 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:173870940
(GRCh38)
1:173840078
(GRCh37)
- Canonical SPDI:
- NC_000001.11:173870939:G:A
- Gene:
- ZBTB37 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000001.11:g.173870940G>A, NC_000001.10:g.173840078G>A, NM_032522.5:c.715G>A, NM_032522.4:c.715G>A, NM_032522.3:c.715G>A, XM_006711578.5:c.715G>A, XM_006711578.4:c.715G>A, XM_006711578.3:c.715G>A, XM_006711578.2:c.715G>A, XM_006711578.1:c.715G>A, XM_011510062.4:c.715G>A, XM_011510062.3:c.715G>A, XM_011510062.2:c.715G>A, XM_011510062.1:c.715G>A, NM_001122770.3:c.715G>A, NM_001122770.2:c.715G>A, NM_001122770.1:c.715G>A, NM_001346115.2:c.715G>A, NM_001346115.1:c.715G>A, XM_017002557.2:c.715G>A, XM_017002557.1:c.715G>A, XM_017002558.2:c.715G>A, XM_017002558.1:c.715G>A, NM_001369846.1:c.715G>A, NM_001395199.1:c.715G>A, XM_047432197.1:c.715G>A, NM_001395200.1:c.715G>A, NM_001395201.1:c.715G>A, NM_001395202.1:c.715G>A, NP_115911.1:p.Val239Ile, XP_006711641.1:p.Val239Ile, XP_011508364.1:p.Val239Ile, NP_001116242.1:p.Val239Ile, NP_001333044.1:p.Val239Ile, XP_016858046.1:p.Val239Ile, XP_016858047.1:p.Val239Ile, NP_001356775.1:p.Val239Ile, NP_001382128.1:p.Val239Ile, XP_047288153.1:p.Val239Ile, NP_001382129.1:p.Val239Ile, NP_001382130.1:p.Val239Ile, NP_001382131.1:p.Val239Ile
4.
rs1490866986 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:173880599
(GRCh38)
1:173849737
(GRCh37)
- Canonical SPDI:
- NC_000001.11:173880598:C:T
- Gene:
- ZBTB37 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
5.
rs1490840646 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 1:173885854
(GRCh38)
1:173854992
(GRCh37)
- Canonical SPDI:
- NC_000001.11:173885853:T:A
- Gene:
- ZBTB37 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,3_prime_UTR_variant,missense_variant,coding_sequence_variant
- HGVS:
NC_000001.11:g.173885854T>A, NC_000001.10:g.173854992T>A, NM_032522.5:c.*12225T>A, XM_006711578.5:c.1242T>A, XM_006711578.4:c.1242T>A, XM_006711578.3:c.1242T>A, XM_006711578.2:c.1242T>A, XM_006711578.1:c.1242T>A, XM_011510062.4:c.*215T>A, XM_011510062.3:c.*215T>A, NM_001122770.3:c.1242T>A, NM_001122770.2:c.1242T>A, NM_001122770.1:c.1242T>A, NM_001346115.2:c.*215T>A, NM_001346115.1:c.*215T>A, XM_017002557.2:c.*215T>A, XM_017002557.1:c.*215T>A, NM_001369846.1:c.*215T>A, NM_001395199.1:c.1242T>A, XM_047432197.1:c.*215T>A, XP_006711641.1:p.Asp414Glu, NP_001116242.1:p.Asp414Glu, NP_001382128.1:p.Asp414Glu
6.
rs1490723556 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:173878925
(GRCh38)
1:173848063
(GRCh37)
- Canonical SPDI:
- NC_000001.11:173878924:A:G
- Gene:
- ZBTB37 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
8.
rs1490646261 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:173873321
(GRCh38)
1:173842459
(GRCh37)
- Canonical SPDI:
- NC_000001.11:173873320:A:G
- Gene:
- ZBTB37 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_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.
rs1490554659 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 1:173867160
(GRCh38)
1:173836299
(GRCh37)
- Canonical SPDI:
- NC_000001.11:173867160:TT:TTT
- Gene:
- SNORD79 (Varview), SNORD44 (Varview), GAS5 (Varview), ZBTB37 (Varview), SNORD75 (Varview), SNORD76 (Varview), SNORD77 (Varview), SNORD78 (Varview), SNORA103 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTT=0.000084/1
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
10.
rs1490419646 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 1:173887648
(GRCh38)
1:173856786
(GRCh37)
- Canonical SPDI:
- NC_000001.11:173887647:C:G
- Gene:
- ZBTB37 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
- HGVS:
NC_000001.11:g.173887648C>G, NC_000001.10:g.173856786C>G, NM_032522.5:c.*14019C>G, XM_006711578.5:c.*1524C>G, XM_006711578.4:c.*1524C>G, XM_006711578.3:c.*1524C>G, XM_011510062.4:c.*2009C>G, XM_011510062.3:c.*2009C>G, NM_001122770.3:c.*1524C>G, NM_001346115.2:c.*2009C>G, XM_017002557.2:c.*2009C>G, XM_017002557.1:c.*2009C>G, NM_001369846.1:c.*2009C>G, NM_001395199.1:c.*1524C>G, XM_047432197.1:c.*2009C>G
11.
rs1490403321 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 1:173882805
(GRCh38)
1:173851943
(GRCh37)
- Canonical SPDI:
- NC_000001.11:173882804:A:T
- Gene:
- ZBTB37 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency
- MAF:
T=0.000007/1
(GnomAD)
- HGVS:
12.
rs1490328225 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 1:173872537
(GRCh38)
1:173841675
(GRCh37)
- Canonical SPDI:
- NC_000001.11:173872536:C:A,NC_000001.11:173872536:C:G
- Gene:
- ZBTB37 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
A=0.000035/1
(TOMMO)
- HGVS:
13.
rs1490194784 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 1:173871817
(GRCh38)
1:173840955
(GRCh37)
- Canonical SPDI:
- NC_000001.11:173871816:T:G
- Gene:
- ZBTB37 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
14.
rs1490123246 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 1:173866504
(GRCh38)
1:173835642
(GRCh37)
- Canonical SPDI:
- NC_000001.11:173866503:A:T
- Gene:
- SNORD79 (Varview), SNORD80 (Varview), SNORD44 (Varview), GAS5 (Varview), ZBTB37 (Varview), SNORD75 (Varview), SNORD76 (Varview), SNORD77 (Varview), SNORD78 (Varview), SNORA103 (Varview)
- Functional Consequence:
- intron_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0./0
(GnomAD)
T=0.000019/5
(TOPMED)
- HGVS:
15.
rs1489908046 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 1:173883872
(GRCh38)
1:173853010
(GRCh37)
- Canonical SPDI:
- NC_000001.11:173883871:G:T
- Gene:
- ZBTB37 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
16.
rs1489906453 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:173878444
(GRCh38)
1:173847582
(GRCh37)
- Canonical SPDI:
- NC_000001.11:173878443:A:G
- Gene:
- ZBTB37 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000463/65
(GnomAD)
G=0.00048/127
(TOPMED)
- HGVS:
17.
rs1489880736 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:173879386
(GRCh38)
1:173848524
(GRCh37)
- Canonical SPDI:
- NC_000001.11:173879385:G:A
- Gene:
- ZBTB37 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
18.
rs1489785597 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:173867137
(GRCh38)
1:173836275
(GRCh37)
- Canonical SPDI:
- NC_000001.11:173867136:A:G
- Gene:
- SNORD79 (Varview), SNORD44 (Varview), GAS5 (Varview), ZBTB37 (Varview), SNORD75 (Varview), SNORD76 (Varview), SNORD77 (Varview), SNORD78 (Varview), SNORA103 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_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.
rs1489651040 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:173877835
(GRCh38)
1:173846973
(GRCh37)
- Canonical SPDI:
- NC_000001.11:173877834:A:G
- Gene:
- ZBTB37 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000015/4
(TOPMED)
G=0.000342/1
(KOREAN)
G=0.000546/1
(Korea1K)
- HGVS:
20.
rs1489513116 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:173868465
(GRCh38)
1:173837603
(GRCh37)
- Canonical SPDI:
- NC_000001.11:173868464:G:A
- Gene:
- GAS5 (Varview), ZBTB37 (Varview), SNORD74 (Varview), SNORD75 (Varview), SNORD76 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS: