Links from Gene
Items: 1 to 20 of 1000
1.
rs1491570090 has merged into rs35077404 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGTGTGT>-,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 3:42644988
(GRCh38)
3:42686480
(GRCh37)
- Canonical SPDI:
- NC_000003.12:42644978:TGTGTGTGTGTGTGTGTGT:TGTGTGTGT,NC_000003.12:42644978:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000003.12:42644978:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000003.12:42644978:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000003.12:42644978:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000003.12:42644978:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:42644978:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:42644978:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- NKTR (Varview), ZBTB47-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGTGTGT=0./0
(
ALFA)
-=0.000023/6
(TOPMED)
TG=0.225/9
(GENOME_DK)
TG=0.299521/1500
(1000Genomes)
- HGVS:
NC_000003.12:g.42644980GT[4], NC_000003.12:g.42644980GT[6], NC_000003.12:g.42644980GT[7], NC_000003.12:g.42644980GT[8], NC_000003.12:g.42644980GT[10], NC_000003.12:g.42644980GT[11], NC_000003.12:g.42644980GT[12], NC_000003.12:g.42644980GT[13], NC_000003.11:g.42686472GT[4], NC_000003.11:g.42686472GT[6], NC_000003.11:g.42686472GT[7], NC_000003.11:g.42686472GT[8], NC_000003.11:g.42686472GT[10], NC_000003.11:g.42686472GT[11], NC_000003.11:g.42686472GT[12], NC_000003.11:g.42686472GT[13]
2.
rs1491515844 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 3:42603041
(GRCh38)
3:42644533
(GRCh37)
- Canonical SPDI:
- NC_000003.12:42603039:AGA:A
- Gene:
- NKTR (Varview), SEC22C (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000084/1
(
ALFA)
-=0.000051/7
(GnomAD)
- HGVS:
3.
rs1491515424 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GG>-
[Show Flanks]
- Chromosome:
- 3:42647302
(GRCh38)
3:42688794
(GRCh37)
- Canonical SPDI:
- NC_000003.12:42647301:GG:
- Gene:
- NKTR (Varview), ZBTB47-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.00028/4
(TOMMO)
-=0.00115/66
(GnomAD)
- HGVS:
NC_000003.12:g.42647302_42647303del, NC_000003.11:g.42688794_42688795del, NM_005385.4:c.*1327_*1328del, NM_005385.3:c.*1327_*1328del, XM_006713171.3:c.*1327_*1328del, XM_006713171.2:c.*1327_*1328del, XM_006713171.1:c.*1327_*1328del, XM_017006474.3:c.*1327_*1328del, XM_017006474.2:c.*1327_*1328del, XM_017006474.1:c.*1327_*1328del, NM_001349125.2:c.*1327_*1328del, NM_001349125.1:c.*1327_*1328del, NM_001349126.2:c.*1327_*1328del, NM_001349126.1:c.*1327_*1328del, NM_001349124.2:c.*1327_*1328del, NM_001349124.1:c.*1327_*1328del, XM_024453539.2:c.*1327_*1328del, XM_024453539.1:c.*1327_*1328del, XM_047448195.1:c.*1327_*1328del, XM_047448192.1:c.*1327_*1328del, XM_047448193.1:c.*1327_*1328del, XM_047448194.1:c.*1327_*1328del, NM_001012651.1:c.*5454_*5455del
4.
rs1491353652 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 3:42647303
(GRCh38)
3:42688795
(GRCh37)
- Canonical SPDI:
- NC_000003.12:42647302:GT:
- Gene:
- NKTR (Varview), ZBTB47-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000581/66
(GnomAD)
- HGVS:
NC_000003.12:g.42647303_42647304del, NC_000003.11:g.42688795_42688796del, NM_005385.4:c.*1328_*1329del, NM_005385.3:c.*1328_*1329del, XM_006713171.3:c.*1328_*1329del, XM_006713171.2:c.*1328_*1329del, XM_006713171.1:c.*1328_*1329del, XM_017006474.3:c.*1328_*1329del, XM_017006474.2:c.*1328_*1329del, XM_017006474.1:c.*1328_*1329del, NM_001349125.2:c.*1328_*1329del, NM_001349125.1:c.*1328_*1329del, NM_001349126.2:c.*1328_*1329del, NM_001349126.1:c.*1328_*1329del, NM_001349124.2:c.*1328_*1329del, NM_001349124.1:c.*1328_*1329del, XM_024453539.2:c.*1328_*1329del, XM_024453539.1:c.*1328_*1329del, XM_047448195.1:c.*1328_*1329del, XM_047448192.1:c.*1328_*1329del, XM_047448193.1:c.*1328_*1329del, XM_047448194.1:c.*1328_*1329del, NM_001012651.1:c.*5455_*5456del
5.
rs1491309702 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 3:42603040
(GRCh38)
3:42644533
(GRCh37)
- Canonical SPDI:
- NC_000003.12:42603040:G:GG
- Gene:
- NKTR (Varview), SEC22C (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
GG=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
7.
rs1491241931 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 3:42611749
(GRCh38)
3:42653241
(GRCh37)
- Canonical SPDI:
- NC_000003.12:42611748:AT:
- Gene:
- NKTR (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000043/6
(GnomAD)
- HGVS:
8.
rs1491235768 has merged into rs58779310 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAA>-,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAATTTAAAAACAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 3:42635067
(GRCh38)
3:42676559
(GRCh37)
- Canonical SPDI:
- NC_000003.12:42635057:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000003.12:42635057:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:42635057:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:42635057:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:42635057:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:42635057:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:42635057:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:42635057:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:42635057:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:42635057:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:42635057:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:42635057:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:42635057:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:42635057:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:42635057:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:42635057:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:42635057:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:42635057:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:42635057:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:42635057:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:42635057:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:42635057:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:42635057:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:42635057:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAATTTAAAAACAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- NKTR (Varview), ZBTB47-AS1 (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0./0
(
ALFA)
AAAA=0.4752/2380
(1000Genomes)
- HGVS:
NC_000003.12:g.42635067_42635078del, NC_000003.12:g.42635069_42635078del, NC_000003.12:g.42635071_42635078del, NC_000003.12:g.42635072_42635078del, NC_000003.12:g.42635073_42635078del, NC_000003.12:g.42635074_42635078del, NC_000003.12:g.42635075_42635078del, NC_000003.12:g.42635076_42635078del, NC_000003.12:g.42635077_42635078del, NC_000003.12:g.42635078del, NC_000003.12:g.42635078dup, NC_000003.12:g.42635077_42635078dup, NC_000003.12:g.42635076_42635078dup, NC_000003.12:g.42635075_42635078dup, NC_000003.12:g.42635074_42635078dup, NC_000003.12:g.42635073_42635078dup, NC_000003.12:g.42635072_42635078dup, NC_000003.12:g.42635071_42635078dup, NC_000003.12:g.42635060_42635078dup, NC_000003.12:g.42635078_42635079insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.42635078_42635079insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.42635078_42635079insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.42635078_42635079insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.42635058_42635078A[25]TTTAAAAACAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.11:g.42676559_42676570del, NC_000003.11:g.42676561_42676570del, NC_000003.11:g.42676563_42676570del, NC_000003.11:g.42676564_42676570del, NC_000003.11:g.42676565_42676570del, NC_000003.11:g.42676566_42676570del, NC_000003.11:g.42676567_42676570del, NC_000003.11:g.42676568_42676570del, NC_000003.11:g.42676569_42676570del, NC_000003.11:g.42676570del, NC_000003.11:g.42676570dup, NC_000003.11:g.42676569_42676570dup, NC_000003.11:g.42676568_42676570dup, NC_000003.11:g.42676567_42676570dup, NC_000003.11:g.42676566_42676570dup, NC_000003.11:g.42676565_42676570dup, NC_000003.11:g.42676564_42676570dup, NC_000003.11:g.42676563_42676570dup, NC_000003.11:g.42676552_42676570dup, NC_000003.11:g.42676570_42676571insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.42676570_42676571insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.42676570_42676571insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.42676570_42676571insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.42676550_42676570A[25]TTTAAAAACAAAAAAAAAAAAAAAAAAAAAA[1]
9.
rs1491223980 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 3:42644680
(GRCh38)
3:42686172
(GRCh37)
- Canonical SPDI:
- NC_000003.12:42644677:CTCT:CT
- Gene:
- NKTR (Varview), ZBTB47-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CTCT=0./0
(
ALFA)
-=0.000014/2
(GnomAD)
-=0.000026/7
(TOPMED)
-=0.004673/1
(Vietnamese)
- HGVS:
11.
rs1491140599 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 3:42644678
(GRCh38)
3:42686171
(GRCh37)
- Canonical SPDI:
- NC_000003.12:42644678:T:TT
- Gene:
- NKTR (Varview), ZBTB47-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
13.
rs1490878241 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:42647818
(GRCh38)
3:42689310
(GRCh37)
- Canonical SPDI:
- NC_000003.12:42647817:G:A
- Gene:
- NKTR (Varview), ZBTB47-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
NC_000003.12:g.42647818G>A, NC_000003.11:g.42689310G>A, NM_005385.4:c.*1843G>A, NM_005385.3:c.*1843G>A, XM_006713171.3:c.*1843G>A, XM_006713171.2:c.*1843G>A, XM_006713171.1:c.*1843G>A, XM_017006474.3:c.*1843G>A, XM_017006474.2:c.*1843G>A, XM_017006474.1:c.*1843G>A, NM_001349125.2:c.*1843G>A, NM_001349125.1:c.*1843G>A, NM_001349126.2:c.*1843G>A, NM_001349126.1:c.*1843G>A, NM_001349124.2:c.*1843G>A, NM_001349124.1:c.*1843G>A, XM_024453539.2:c.*1843G>A, XM_024453539.1:c.*1843G>A, XM_047448195.1:c.*1843G>A, XM_047448192.1:c.*1843G>A, XM_047448193.1:c.*1843G>A, XM_047448194.1:c.*1843G>A, NM_001012651.1:c.*5970G>A
14.
rs1490727387 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 3:42623737
(GRCh38)
3:42665229
(GRCh37)
- Canonical SPDI:
- NC_000003.12:42623736:T:A
- Gene:
- NKTR (Varview), ZBTB47-AS1 (Varview)
- Functional Consequence:
- intron_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
15.
rs1490701946 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:42622541
(GRCh38)
3:42664033
(GRCh37)
- Canonical SPDI:
- NC_000003.12:42622540:A:G
- Gene:
- NKTR (Varview), ZBTB47-AS1 (Varview)
- Functional Consequence:
- intron_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
16.
rs1490657086 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:42600369
(GRCh38)
3:42641861
(GRCh37)
- Canonical SPDI:
- NC_000003.12:42600368:A:G
- Gene:
- NKTR (Varview), SEC22C (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000026/7
(TOPMED)
G=0.000029/4
(GnomAD)
- HGVS:
17.
rs1490652112 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 3:42636908
(GRCh38)
3:42678400
(GRCh37)
- Canonical SPDI:
- NC_000003.12:42636907:T:A
- Gene:
- NKTR (Varview), ZBTB47-AS1 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency
- MAF:
A=0.000005/1
(GnomAD_exomes)
- HGVS:
NC_000003.12:g.42636908T>A, NC_000003.11:g.42678400T>A, NM_005385.4:c.1204T>A, NM_005385.3:c.1204T>A, XM_006713171.3:c.1204T>A, XM_006713171.2:c.1204T>A, XM_006713171.1:c.1204T>A, XM_017006474.3:c.1204T>A, XM_017006474.2:c.1204T>A, XM_017006474.1:c.1204T>A, NM_001349125.2:c.445T>A, NM_001349125.1:c.445T>A, NM_001349126.2:c.100T>A, NM_001349126.1:c.100T>A, NM_001349124.2:c.1204T>A, NM_001349124.1:c.1204T>A, XM_024453539.2:c.1204T>A, XM_024453539.1:c.1204T>A, XM_047448195.1:c.445T>A, XM_047448192.1:c.874T>A, XM_047448193.1:c.874T>A, XM_047448194.1:c.874T>A, NM_001012651.1:c.*942T>A, NP_005376.2:p.Leu402Met, XP_006713234.1:p.Leu402Met, XP_016861963.1:p.Leu402Met, NP_001336054.1:p.Leu149Met, NP_001336055.1:p.Leu34Met, NP_001336053.1:p.Leu402Met, XP_024309307.1:p.Leu402Met, XP_047304151.1:p.Leu149Met, XP_047304148.1:p.Leu292Met, XP_047304149.1:p.Leu292Met, XP_047304150.1:p.Leu292Met
18.
rs1490635244 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 3:42600882
(GRCh38)
3:42642374
(GRCh37)
- Canonical SPDI:
- NC_000003.12:42600881:T:G
- Gene:
- NKTR (Varview), SEC22C (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000015/4
(TOPMED)
- HGVS: