Links from Gene
Items: 1 to 20 of 4378
1.
rs1491506311 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GCTT
[Show Flanks]
- Chromosome:
- 19:35901555
(GRCh38)
19:36392458
(GRCh37)
- Canonical SPDI:
- NC_000019.10:35901555:TGCTTGCTTGCTT:TGCTTGCTTGCTTGCTT
- Gene:
- HCST (Varview), NFKBID (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGCTTGCTTGCTTGCTT=0./0
(
ALFA)
TGCT=0.000014/2
(GnomAD)
TGCT=0.000015/4
(TOPMED)
- HGVS:
2.
rs1491429686 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CTT
[Show Flanks]
- Chromosome:
- 19:35900828
(GRCh38)
19:36391731
(GRCh37)
- Canonical SPDI:
- NC_000019.10:35900828:TT:TTCTT
- Gene:
- HCST (Varview), NFKBID (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:
TTCTT=0.00615/73
(
ALFA)
TTC=0.01266/996
(GnomAD)
TTC=0.0267/411
(TOMMO)
TTC=0.03249/59
(Korea1K)
- HGVS:
3.
rs1491334468 has merged into rs60365058 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 19:35900835
(GRCh38)
19:36391737
(GRCh37)
- Canonical SPDI:
- NC_000019.10:35900827:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000019.10:35900827:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000019.10:35900827:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000019.10:35900827:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:35900827:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:35900827:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:35900827:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:35900827:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:35900827:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:35900827:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:35900827:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:35900827:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:35900827:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:35900827:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:35900827:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:35900827:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:35900827:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:35900827:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:35900827:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:35900827:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:35900827:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:35900827:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:35900827:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:35900827:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:35900827:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:35900827:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:35900827:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:35900827:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:35900827:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:35900827:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:35900827:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:35900827:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:35900827:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:35900827:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:35900827:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:35900827:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:35900827:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:35900827:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:35900827:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:35900827:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:35900827:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:35900827:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:35900827:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:35900827:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:35900827:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:35900827:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:35900827:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:35900827:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:35900827:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:35900827:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- HCST (Varview), NFKBID (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTT=0./0
(
ALFA)
TTTTTTTTTTTTTT=0.475/19
(GENOME_DK)
- HGVS:
NC_000019.10:g.35900835_35900849del, NC_000019.10:g.35900836_35900849del, NC_000019.10:g.35900837_35900849del, NC_000019.10:g.35900838_35900849del, NC_000019.10:g.35900839_35900849del, NC_000019.10:g.35900840_35900849del, NC_000019.10:g.35900842_35900849del, NC_000019.10:g.35900843_35900849del, NC_000019.10:g.35900844_35900849del, NC_000019.10:g.35900845_35900849del, NC_000019.10:g.35900846_35900849del, NC_000019.10:g.35900847_35900849del, NC_000019.10:g.35900848_35900849del, NC_000019.10:g.35900849del, NC_000019.10:g.35900849dup, NC_000019.10:g.35900848_35900849dup, NC_000019.10:g.35900847_35900849dup, NC_000019.10:g.35900828_35900849T[25]GTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.10:g.35900846_35900849dup, NC_000019.10:g.35900845_35900849dup, NC_000019.10:g.35900844_35900849dup, NC_000019.10:g.35900843_35900849dup, NC_000019.10:g.35900842_35900849dup, NC_000019.10:g.35900841_35900849dup, NC_000019.10:g.35900840_35900849dup, NC_000019.10:g.35900839_35900849dup, NC_000019.10:g.35900837_35900849dup, NC_000019.10:g.35900836_35900849dup, NC_000019.10:g.35900835_35900849dup, NC_000019.10:g.35900828_35900849T[37]CTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.10:g.35900834_35900849dup, NC_000019.10:g.35900828_35900849T[38]CTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.10:g.35900833_35900849dup, NC_000019.10:g.35900832_35900849dup, NC_000019.10:g.35900831_35900849dup, NC_000019.10:g.35900828_35900849T[42]CTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.10:g.35900829_35900849dup, NC_000019.10:g.35900828_35900849dup, NC_000019.10:g.35900849_35900850insTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.35900849_35900850insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.35900849_35900850insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.35900849_35900850insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.35900849_35900850insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.35900849_35900850insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.35900849_35900850insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.35900849_35900850insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.35900849_35900850insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.35900849_35900850insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.35900849_35900850insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.35900849_35900850insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.36391737_36391751del, NC_000019.9:g.36391738_36391751del, NC_000019.9:g.36391739_36391751del, NC_000019.9:g.36391740_36391751del, NC_000019.9:g.36391741_36391751del, NC_000019.9:g.36391742_36391751del, NC_000019.9:g.36391744_36391751del, NC_000019.9:g.36391745_36391751del, NC_000019.9:g.36391746_36391751del, NC_000019.9:g.36391747_36391751del, NC_000019.9:g.36391748_36391751del, NC_000019.9:g.36391749_36391751del, NC_000019.9:g.36391750_36391751del, NC_000019.9:g.36391751del, NC_000019.9:g.36391751dup, NC_000019.9:g.36391750_36391751dup, NC_000019.9:g.36391749_36391751dup, NC_000019.9:g.36391730_36391751T[25]GTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.9:g.36391748_36391751dup, NC_000019.9:g.36391747_36391751dup, NC_000019.9:g.36391746_36391751dup, NC_000019.9:g.36391745_36391751dup, NC_000019.9:g.36391744_36391751dup, NC_000019.9:g.36391743_36391751dup, NC_000019.9:g.36391742_36391751dup, NC_000019.9:g.36391741_36391751dup, NC_000019.9:g.36391739_36391751dup, NC_000019.9:g.36391738_36391751dup, NC_000019.9:g.36391737_36391751dup, NC_000019.9:g.36391730_36391751T[37]CTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.9:g.36391736_36391751dup, NC_000019.9:g.36391730_36391751T[38]CTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.9:g.36391735_36391751dup, NC_000019.9:g.36391734_36391751dup, NC_000019.9:g.36391733_36391751dup, NC_000019.9:g.36391730_36391751T[42]CTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.9:g.36391731_36391751dup, NC_000019.9:g.36391730_36391751dup, NC_000019.9:g.36391751_36391752insTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.36391751_36391752insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.36391751_36391752insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.36391751_36391752insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.36391751_36391752insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.36391751_36391752insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.36391751_36391752insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.36391751_36391752insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.36391751_36391752insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.36391751_36391752insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.36391751_36391752insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.36391751_36391752insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
4.
rs1491303086 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 19:35901555
(GRCh38)
19:36392457
(GRCh37)
- Canonical SPDI:
- NC_000019.10:35901554:CT:
- Gene:
- HCST (Varview), NFKBID (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
5.
rs1490996992 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:35893000
(GRCh38)
19:36383902
(GRCh37)
- Canonical SPDI:
- NC_000019.10:35892999:C:T
- Gene:
- NFKBID (Varview)
- Functional Consequence:
- intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
6.
rs1490892981 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:35902205
(GRCh38)
19:36393107
(GRCh37)
- Canonical SPDI:
- NC_000019.10:35902204:C:T
- Gene:
- HCST (Varview), NFKBID (Varview)
- Functional Consequence:
- 2KB_upstream_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
C=0.5/1
(SGDP_PRJ)
- HGVS:
NC_000019.10:g.35902205C>T, NC_000019.9:g.36393107C>T, NM_032721.3:c.79G>A, NM_032721.2:c.79G>A, XM_047439557.1:c.79G>A, XM_047439558.1:c.79G>A, XM_047439559.1:c.79G>A, NP_116110.2:p.Ala27Thr, XP_047295513.1:p.Ala27Thr, XP_047295514.1:p.Ala27Thr, XP_047295515.1:p.Ala27Thr
7.
rs1490643696 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CTT>-
[Show Flanks]
- Chromosome:
- 19:35900822
(GRCh38)
19:36391724
(GRCh37)
- Canonical SPDI:
- NC_000019.10:35900819:TTCTT:TT
- Gene:
- HCST (Varview), NFKBID (Varview)
- Functional Consequence:
- 2KB_upstream_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TT=0./0
(
ALFA)
-=0.000109/14
(GnomAD)
- HGVS:
8.
rs1490592783 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:35902698
(GRCh38)
19:36393600
(GRCh37)
- Canonical SPDI:
- NC_000019.10:35902697:C:T
- Gene:
- HCST (Varview), NFKBID (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000021/3
(GnomAD)
T=0.000026/7
(TOPMED)
- HGVS:
9.
rs1490581347 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:35899757
(GRCh38)
19:36390659
(GRCh37)
- Canonical SPDI:
- NC_000019.10:35899756:G:A
- Gene:
- NFKBID (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_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:
10.
rs1490507186 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:35893433
(GRCh38)
19:36384335
(GRCh37)
- Canonical SPDI:
- NC_000019.10:35893432:C:T
- Gene:
- NFKBID (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
11.
rs1490115174 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 19:35901217
(GRCh38)
19:36392119
(GRCh37)
- Canonical SPDI:
- NC_000019.10:35901216:T:G
- Gene:
- HCST (Varview), NFKBID (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.01197/142
(
ALFA)
G=0.02163/63
(KOREAN)
- HGVS:
12.
rs1490094150 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 19:35887541
(GRCh38)
19:36378443
(GRCh37)
- Canonical SPDI:
- NC_000019.10:35887540:C:G
- Gene:
- NFKBID (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
13.
rs1490015108 has merged into rs879299060 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAA>-,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 19:35893830
(GRCh38)
19:36384732
(GRCh37)
- Canonical SPDI:
- NC_000019.10:35893818:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:35893818:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:35893818:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:35893818:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:35893818:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:35893818:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:35893818:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:35893818:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- NFKBID (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
NC_000019.10:g.35893830_35893834del, NC_000019.10:g.35893832_35893834del, NC_000019.10:g.35893833_35893834del, NC_000019.10:g.35893834del, NC_000019.10:g.35893834dup, NC_000019.10:g.35893833_35893834dup, NC_000019.10:g.35893832_35893834dup, NC_000019.10:g.35893822_35893834dup, NC_000019.9:g.36384732_36384736del, NC_000019.9:g.36384734_36384736del, NC_000019.9:g.36384735_36384736del, NC_000019.9:g.36384736del, NC_000019.9:g.36384736dup, NC_000019.9:g.36384735_36384736dup, NC_000019.9:g.36384734_36384736dup, NC_000019.9:g.36384724_36384736dup
14.
rs1489723653 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 19:35896286
(GRCh38)
19:36387188
(GRCh37)
- Canonical SPDI:
- NC_000019.10:35896285:G:C
- Gene:
- NFKBID (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
15.
rs1489557326 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 19:35896666
(GRCh38)
19:36387568
(GRCh37)
- Canonical SPDI:
- NC_000019.10:35896665:G:A,NC_000019.10:35896665:G:T
- Gene:
- NFKBID (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
16.
rs1489499489 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 19:35890319
(GRCh38)
19:36381221
(GRCh37)
- Canonical SPDI:
- NC_000019.10:35890318:A:C
- Gene:
- NFKBID (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.0113/33
(KOREAN)
- HGVS:
18.
rs1489395427 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:35887941
(GRCh38)
19:36378843
(GRCh37)
- Canonical SPDI:
- NC_000019.10:35887940:G:A
- Gene:
- NFKBID (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
19.
rs1489144629 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:35895170
(GRCh38)
19:36386072
(GRCh37)
- Canonical SPDI:
- NC_000019.10:35895169:T:C
- Gene:
- NFKBID (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000021/3
(GnomAD)
C=0.00003/8
(TOPMED)
- HGVS:
20.
rs1488534660 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 19:35901102
(GRCh38)
19:36392004
(GRCh37)
- Canonical SPDI:
- NC_000019.10:35901101:G:T
- Gene:
- HCST (Varview), NFKBID (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS: