Links from Gene
Items: 1 to 20 of 5357
2.
rs1491307968 has merged into rs527684457 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 14:59499027
(GRCh38)
14:59965745
(GRCh37)
- Canonical SPDI:
- NC_000014.9:59499015:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:59499015:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:59499015:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:59499015:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:59499015:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:59499015:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:59499015:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:59499015:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:59499015:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:59499015:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:59499015:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:59499015:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:59499015:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:59499015:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:59499015:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:59499015:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:59499015:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:59499015:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:59499015:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:59499015:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:59499015:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:59499015:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:59499015:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:59499015:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:59499015:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:59499015:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:59499015:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:59499015:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:59499015:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:59499015:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- JKAMP (Varview), L3HYPDH (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
-=0.4199/2103
(1000Genomes)
- HGVS:
NC_000014.9:g.59499027_59499042del, NC_000014.9:g.59499028_59499042del, NC_000014.9:g.59499029_59499042del, NC_000014.9:g.59499030_59499042del, NC_000014.9:g.59499031_59499042del, NC_000014.9:g.59499032_59499042del, NC_000014.9:g.59499033_59499042del, NC_000014.9:g.59499034_59499042del, NC_000014.9:g.59499035_59499042del, NC_000014.9:g.59499036_59499042del, NC_000014.9:g.59499037_59499042del, NC_000014.9:g.59499038_59499042del, NC_000014.9:g.59499039_59499042del, NC_000014.9:g.59499041_59499042del, NC_000014.9:g.59499042del, NC_000014.9:g.59499042dup, NC_000014.9:g.59499041_59499042dup, NC_000014.9:g.59499040_59499042dup, NC_000014.9:g.59499039_59499042dup, NC_000014.9:g.59499038_59499042dup, NC_000014.9:g.59499037_59499042dup, NC_000014.9:g.59499036_59499042dup, NC_000014.9:g.59499035_59499042dup, NC_000014.9:g.59499034_59499042dup, NC_000014.9:g.59499033_59499042dup, NC_000014.9:g.59499031_59499042dup, NC_000014.9:g.59499028_59499042dup, NC_000014.9:g.59499027_59499042dup, NC_000014.9:g.59499017_59499042dup, NC_000014.9:g.59499042_59499043insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.59965745_59965760del, NC_000014.8:g.59965746_59965760del, NC_000014.8:g.59965747_59965760del, NC_000014.8:g.59965748_59965760del, NC_000014.8:g.59965749_59965760del, NC_000014.8:g.59965750_59965760del, NC_000014.8:g.59965751_59965760del, NC_000014.8:g.59965752_59965760del, NC_000014.8:g.59965753_59965760del, NC_000014.8:g.59965754_59965760del, NC_000014.8:g.59965755_59965760del, NC_000014.8:g.59965756_59965760del, NC_000014.8:g.59965757_59965760del, NC_000014.8:g.59965759_59965760del, NC_000014.8:g.59965760del, NC_000014.8:g.59965760dup, NC_000014.8:g.59965759_59965760dup, NC_000014.8:g.59965758_59965760dup, NC_000014.8:g.59965757_59965760dup, NC_000014.8:g.59965756_59965760dup, NC_000014.8:g.59965755_59965760dup, NC_000014.8:g.59965754_59965760dup, NC_000014.8:g.59965753_59965760dup, NC_000014.8:g.59965752_59965760dup, NC_000014.8:g.59965751_59965760dup, NC_000014.8:g.59965749_59965760dup, NC_000014.8:g.59965746_59965760dup, NC_000014.8:g.59965745_59965760dup, NC_000014.8:g.59965735_59965760dup, NC_000014.8:g.59965760_59965761insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
4.
rs1491009585 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 14:59495251
(GRCh38)
14:59961969
(GRCh37)
- Canonical SPDI:
- NC_000014.9:59495250:AT:
- Gene:
- JKAMP (Varview), L3HYPDH (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
5.
rs1490949424 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATC>-
[Show Flanks]
- Chromosome:
- 14:59502625
(GRCh38)
14:59969343
(GRCh37)
- Canonical SPDI:
- NC_000014.9:59502621:ATCATC:ATC
- Gene:
- JKAMP (Varview), L3HYPDH (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATCATC=0.000071/1
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000008/2
(TOPMED)
- HGVS:
6.
rs1490688559 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:59485024
(GRCh38)
14:59951742
(GRCh37)
- Canonical SPDI:
- NC_000014.9:59485023:G:A
- Gene:
- JKAMP (Varview), L3HYPDH (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
7.
rs1490505582 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:59500983
(GRCh38)
14:59967701
(GRCh37)
- Canonical SPDI:
- NC_000014.9:59500982:C:T
- Gene:
- JKAMP (Varview), L3HYPDH (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000224/1
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000223/1
(Estonian)
- HGVS:
9.
rs1490312514 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 14:59484639
(GRCh38)
14:59951357
(GRCh37)
- Canonical SPDI:
- NC_000014.9:59484638:C:G
- Gene:
- JKAMP (Varview), L3HYPDH (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
- Validated:
- by frequency
- MAF:
G=0.000006/1
(GnomAD_exomes)
- HGVS:
10.
rs1490220571 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:59483595
(GRCh38)
14:59950313
(GRCh37)
- Canonical SPDI:
- NC_000014.9:59483594:A:G
- Gene:
- JKAMP (Varview), L3HYPDH (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
G=0.000546/1
(Korea1K)
G=0.000566/9
(TOMMO)
G=0.000684/2
(KOREAN)
- HGVS:
11.
rs1490177654 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:59498070
(GRCh38)
14:59964788
(GRCh37)
- Canonical SPDI:
- NC_000014.9:59498069:G:A
- Gene:
- JKAMP (Varview), L3HYPDH (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000015/4
(TOPMED)
A=0.000043/6
(GnomAD)
- HGVS:
13.
rs1489874550 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 14:59482806
(GRCh38)
14:59949524
(GRCh37)
- Canonical SPDI:
- NC_000014.9:59482805:T:G
- Gene:
- JKAMP (Varview), L3HYPDH (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
14.
rs1489847346 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 14:59484332
(GRCh38)
14:59951050
(GRCh37)
- Canonical SPDI:
- NC_000014.9:59484331:A:T
- Gene:
- JKAMP (Varview), L3HYPDH (Varview)
- Functional Consequence:
- 2KB_upstream_variant,5_prime_UTR_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_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_000014.9:g.59484332A>T, NC_000014.8:g.59951050A>T, XR_943383.3:n.77T>A, XR_943383.2:n.24T>A, XR_943383.1:n.107T>A, NR_138575.2:n.77T>A, NR_138575.1:n.24T>A, NM_001331164.2:c.-16T>A, NM_001331164.1:c.-16T>A, NR_138571.2:n.77T>A, NR_138571.1:n.24T>A, NR_138574.2:n.77T>A, NR_138574.1:n.24T>A, NR_138572.2:n.77T>A, NR_138572.1:n.24T>A, NM_001331158.2:c.-658T>A, NM_001331158.1:c.-658T>A, NM_144581.2:c.-16T>A, NM_144581.1:c.-16T>A, XM_047430902.1:c.-16T>A, XM_047430903.1:c.-16T>A, XR_007063979.1:n.77T>A, XM_047430900.1:c.-16T>A
15.
rs1489748181 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:59496886
(GRCh38)
14:59963604
(GRCh37)
- Canonical SPDI:
- NC_000014.9:59496885:G:A
- Gene:
- JKAMP (Varview), L3HYPDH (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000066/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000223/1
(Estonian)
- HGVS:
16.
rs1489723647 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:59499061
(GRCh38)
14:59965779
(GRCh37)
- Canonical SPDI:
- NC_000014.9:59499060:A:G
- Gene:
- JKAMP (Varview), L3HYPDH (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.00002/2
(GnomAD)
- HGVS:
18.
rs1489627372 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 14:59504803
(GRCh38)
14:59971521
(GRCh37)
- Canonical SPDI:
- NC_000014.9:59504802:T:G
- Gene:
- JKAMP (Varview), L3HYPDH (Varview), CCDC175 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,genic_upstream_transcript_variant,500B_downstream_variant,intron_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
NC_000014.9:g.59504803T>G, NC_000014.8:g.59971521T>G, NM_016475.5:c.*731T>G, NM_016475.4:c.*731T>G, NM_016475.3:c.*731T>G, NM_001098625.3:c.*731T>G, NM_001098625.2:c.*731T>G, NM_001098625.1:c.*731T>G, NM_001284201.2:c.*731T>G, NM_001284201.1:c.*731T>G, XM_024449627.2:c.*731T>G, XM_024449627.1:c.*731T>G, NM_001284202.2:c.*731T>G, NM_001284202.1:c.*731T>G, NM_001284203.2:c.*731T>G, NM_001284203.1:c.*731T>G, NM_001284204.2:c.*948T>G, NM_001284204.1:c.*948T>G, XM_047431467.1:c.*731T>G
19.
rs1489576604 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:59486373
(GRCh38)
14:59953091
(GRCh37)
- Canonical SPDI:
- NC_000014.9:59486372:T:C
- Gene:
- JKAMP (Varview), L3HYPDH (Varview), LOC124903326 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
20.
rs1489535058 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:59483664
(GRCh38)
14:59950382
(GRCh37)
- Canonical SPDI:
- NC_000014.9:59483663:G:A
- Gene:
- JKAMP (Varview), L3HYPDH (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_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)
A=0.000014/1
(GnomAD_exomes)
- HGVS: