Links from Gene
Items: 1 to 20 of 987
1.
rs1491459863 has merged into rs59976658 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CTCTCTCTCTCTCTCTCTCTCTCTCT>-,CTCT,CTCTCT,CTCTCTCT,CTCTCTCTCT,CTCTCTCTCTCT,CTCTCTCTCTCTCT,CTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT
[Show Flanks]
- Chromosome:
- 21:35038589
(GRCh38)
21:36410886
(GRCh37)
- Canonical SPDI:
- NC_000021.9:35038572:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCT,NC_000021.9:35038572:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCT,NC_000021.9:35038572:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCT,NC_000021.9:35038572:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCT,NC_000021.9:35038572:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000021.9:35038572:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000021.9:35038572:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000021.9:35038572:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000021.9:35038572:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000021.9:35038572:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000021.9:35038572:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000021.9:35038572:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000021.9:35038572:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000021.9:35038572:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000021.9:35038572:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000021.9:35038572:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000021.9:35038572:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000021.9:35038572:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000021.9:35038572:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000021.9:35038572:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000021.9:35038572:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000021.9:35038572:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT
- Gene:
- RUNX1 (Varview), RUNX1-IT1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CTCTCTCTCTCTCTCTCTCT=0./0
(
ALFA)
- HGVS:
NC_000021.9:g.35038573CT[8], NC_000021.9:g.35038573CT[10], NC_000021.9:g.35038573CT[11], NC_000021.9:g.35038573CT[12], NC_000021.9:g.35038573CT[13], NC_000021.9:g.35038573CT[14], NC_000021.9:g.35038573CT[15], NC_000021.9:g.35038573CT[16], NC_000021.9:g.35038573CT[17], NC_000021.9:g.35038573CT[18], NC_000021.9:g.35038573CT[19], NC_000021.9:g.35038573CT[20], NC_000021.9:g.35038573CT[22], NC_000021.9:g.35038573CT[23], NC_000021.9:g.35038573CT[24], NC_000021.9:g.35038573CT[25], NC_000021.9:g.35038573CT[26], NC_000021.9:g.35038573CT[27], NC_000021.9:g.35038573CT[28], NC_000021.9:g.35038573CT[30], NC_000021.9:g.35038573CT[32], NC_000021.9:g.35038573CT[33], NC_000021.8:g.36410870CT[8], NC_000021.8:g.36410870CT[10], NC_000021.8:g.36410870CT[11], NC_000021.8:g.36410870CT[12], NC_000021.8:g.36410870CT[13], NC_000021.8:g.36410870CT[14], NC_000021.8:g.36410870CT[15], NC_000021.8:g.36410870CT[16], NC_000021.8:g.36410870CT[17], NC_000021.8:g.36410870CT[18], NC_000021.8:g.36410870CT[19], NC_000021.8:g.36410870CT[20], NC_000021.8:g.36410870CT[22], NC_000021.8:g.36410870CT[23], NC_000021.8:g.36410870CT[24], NC_000021.8:g.36410870CT[25], NC_000021.8:g.36410870CT[26], NC_000021.8:g.36410870CT[27], NC_000021.8:g.36410870CT[28], NC_000021.8:g.36410870CT[30], NC_000021.8:g.36410870CT[32], NC_000021.8:g.36410870CT[33], NG_011402.2:g.951098AG[8], NG_011402.2:g.951098AG[10], NG_011402.2:g.951098AG[11], NG_011402.2:g.951098AG[12], NG_011402.2:g.951098AG[13], NG_011402.2:g.951098AG[14], NG_011402.2:g.951098AG[15], NG_011402.2:g.951098AG[16], NG_011402.2:g.951098AG[17], NG_011402.2:g.951098AG[18], NG_011402.2:g.951098AG[19], NG_011402.2:g.951098AG[20], NG_011402.2:g.951098AG[22], NG_011402.2:g.951098AG[23], NG_011402.2:g.951098AG[24], NG_011402.2:g.951098AG[25], NG_011402.2:g.951098AG[26], NG_011402.2:g.951098AG[27], NG_011402.2:g.951098AG[28], NG_011402.2:g.951098AG[30], NG_011402.2:g.951098AG[32], NG_011402.2:g.951098AG[33], NR_026812.1:n.813AG[8], NR_026812.1:n.813AG[10], NR_026812.1:n.813AG[11], NR_026812.1:n.813AG[12], NR_026812.1:n.813AG[13], NR_026812.1:n.813AG[14], NR_026812.1:n.813AG[15], NR_026812.1:n.813AG[16], NR_026812.1:n.813AG[17], NR_026812.1:n.813AG[18], NR_026812.1:n.813AG[19], NR_026812.1:n.813AG[20], NR_026812.1:n.813AG[22], NR_026812.1:n.813AG[23], NR_026812.1:n.813AG[24], NR_026812.1:n.813AG[25], NR_026812.1:n.813AG[26], NR_026812.1:n.813AG[27], NR_026812.1:n.813AG[28], NR_026812.1:n.813AG[30], NR_026812.1:n.813AG[32], NR_026812.1:n.813AG[33], NM_025143.1:c.259_260dup, NM_025143.1:c.237_260del, NM_025143.1:c.241_260del, NM_025143.1:c.243_260del, NM_025143.1:c.245_260del, NM_025143.1:c.247_260del, NM_025143.1:c.249_260del, NM_025143.1:c.251_260del, NM_025143.1:c.253_260del, NM_025143.1:c.255_260del, NM_025143.1:c.257_260del, NM_025143.1:c.259_260del, NM_025143.1:c.257_260dup, NM_025143.1:c.255_260dup, NM_025143.1:c.253_260dup, NM_025143.1:c.251_260dup, NM_025143.1:c.249_260dup, NM_025143.1:c.247_260dup, NM_025143.1:c.245_260dup, NM_025143.1:c.241_260dup, NM_025143.1:c.237_260dup, NM_025143.1:c.235_260dup
2.
rs1491302185 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TA
[Show Flanks]
- Chromosome:
- 21:35038647
(GRCh38)
21:36410945
(GRCh37)
- Canonical SPDI:
- NC_000021.9:35038647:A:ATA
- Gene:
- RUNX1 (Varview), RUNX1-IT1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATA=0./0
(
ALFA)
AT=0.000004/1
(TOPMED)
AT=0.000051/7
(GnomAD)
- HGVS:
4.
rs1489319135 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 21:35038244
(GRCh38)
21:36410541
(GRCh37)
- Canonical SPDI:
- NC_000021.9:35038243:A:G
- Gene:
- RUNX1 (Varview), RUNX1-IT1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
5.
rs1488775520 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 21:35038266
(GRCh38)
21:36410563
(GRCh37)
- Canonical SPDI:
- NC_000021.9:35038265:C:G
- Gene:
- RUNX1 (Varview), RUNX1-IT1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
6.
rs1488285818 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 21:35037432
(GRCh38)
21:36409729
(GRCh37)
- Canonical SPDI:
- NC_000021.9:35037431:C:A
- Gene:
- RUNX1 (Varview), RUNX1-IT1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000029/4
(GnomAD)
- HGVS:
7.
rs1488098797 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 21:35038190
(GRCh38)
21:36410487
(GRCh37)
- Canonical SPDI:
- NC_000021.9:35038189:A:G
- Gene:
- RUNX1 (Varview), RUNX1-IT1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000019/5
(TOPMED)
- HGVS:
9.
rs1487538892 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CTGT>-
[Show Flanks]
- Chromosome:
- 21:35038613
(GRCh38)
21:36410910
(GRCh37)
- Canonical SPDI:
- NC_000021.9:35038611:TCTGT:T
- Gene:
- RUNX1 (Varview), RUNX1-IT1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.005901/70
(
ALFA)
-=0.007772/795
(GnomAD)
-=0.016925/284
(TOMMO)
-=0.026667/16
(NorthernSweden)
- HGVS:
10.
rs1486165739 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 21:35039918
(GRCh38)
21:36412215
(GRCh37)
- Canonical SPDI:
- NC_000021.9:35039917:T:G
- Gene:
- RUNX1 (Varview), RUNX1-IT1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000011/3
(TOPMED)
- HGVS:
11.
rs1485526125 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 21:35038965
(GRCh38)
21:36411262
(GRCh37)
- Canonical SPDI:
- NC_000021.9:35038964:G:A
- Gene:
- RUNX1 (Varview), RUNX1-IT1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
12.
rs1485076916 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 21:35038581
(GRCh38)
21:36410878
(GRCh37)
- Canonical SPDI:
- NC_000021.9:35038580:C:G
- Gene:
- RUNX1 (Varview), RUNX1-IT1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
C=0.5/1
(SGDP_PRJ)
- HGVS:
13.
rs1484542705 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 21:35039418
(GRCh38)
21:36411715
(GRCh37)
- Canonical SPDI:
- NC_000021.9:35039417:C:T
- Gene:
- RUNX1 (Varview), RUNX1-IT1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS:
15.
rs1484202424 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 21:35040789
(GRCh38)
21:36413086
(GRCh37)
- Canonical SPDI:
- NC_000021.9:35040788:A:C
- Gene:
- RUNX1 (Varview), RUNX1-IT1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000546/1
(Korea1K)
- HGVS:
17.
rs1483798873 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 21:35040865
(GRCh38)
21:36413162
(GRCh37)
- Canonical SPDI:
- NC_000021.9:35040864:T:A
- Gene:
- RUNX1 (Varview), RUNX1-IT1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
18.
rs1483043630 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 21:35040974
(GRCh38)
21:36413271
(GRCh37)
- Canonical SPDI:
- NC_000021.9:35040973:C:G
- Gene:
- RUNX1 (Varview), RUNX1-IT1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,intron_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.
rs1482792700 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 21:35039401
(GRCh38)
21:36411698
(GRCh37)
- Canonical SPDI:
- NC_000021.9:35039400:C:T
- Gene:
- RUNX1 (Varview), RUNX1-IT1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
T=0.000035/1
(TOMMO)
- HGVS:
20.
rs1482679097 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 21:35039279
(GRCh38)
21:36411576
(GRCh37)
- Canonical SPDI:
- NC_000021.9:35039278:G:A
- Gene:
- RUNX1 (Varview), RUNX1-IT1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS: