Links from Gene
Items: 1 to 20 of 3588
1.
rs1491472396 has merged into rs548085618 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 17:38700938
(GRCh38)
17:36857191
(GRCh37)
- Canonical SPDI:
- NC_000017.11:38700925:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:38700925:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:38700925:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:38700925:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:38700925:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:38700925:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:38700925:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:38700925:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:38700925:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:38700925:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:38700925:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:38700925:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:38700925:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:38700925:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:38700925:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:38700925:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:38700925:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:38700925:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:38700925:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:38700925:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:38700925:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:38700925:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:38700925:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:38700925:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LOC105371763 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000017.11:g.38700938_38700953del, NC_000017.11:g.38700939_38700953del, NC_000017.11:g.38700940_38700953del, NC_000017.11:g.38700941_38700953del, NC_000017.11:g.38700942_38700953del, NC_000017.11:g.38700943_38700953del, NC_000017.11:g.38700944_38700953del, NC_000017.11:g.38700945_38700953del, NC_000017.11:g.38700946_38700953del, NC_000017.11:g.38700947_38700953del, NC_000017.11:g.38700948_38700953del, NC_000017.11:g.38700949_38700953del, NC_000017.11:g.38700950_38700953del, NC_000017.11:g.38700951_38700953del, NC_000017.11:g.38700952_38700953del, NC_000017.11:g.38700953del, NC_000017.11:g.38700953dup, NC_000017.11:g.38700952_38700953dup, NC_000017.11:g.38700951_38700953dup, NC_000017.11:g.38700950_38700953dup, NC_000017.11:g.38700949_38700953dup, NC_000017.11:g.38700948_38700953dup, NC_000017.11:g.38700947_38700953dup, NC_000017.11:g.38700946_38700953dup, NC_000017.10:g.36857191_36857206del, NC_000017.10:g.36857192_36857206del, NC_000017.10:g.36857193_36857206del, NC_000017.10:g.36857194_36857206del, NC_000017.10:g.36857195_36857206del, NC_000017.10:g.36857196_36857206del, NC_000017.10:g.36857197_36857206del, NC_000017.10:g.36857198_36857206del, NC_000017.10:g.36857199_36857206del, NC_000017.10:g.36857200_36857206del, NC_000017.10:g.36857201_36857206del, NC_000017.10:g.36857202_36857206del, NC_000017.10:g.36857203_36857206del, NC_000017.10:g.36857204_36857206del, NC_000017.10:g.36857205_36857206del, NC_000017.10:g.36857206del, NC_000017.10:g.36857206dup, NC_000017.10:g.36857205_36857206dup, NC_000017.10:g.36857204_36857206dup, NC_000017.10:g.36857203_36857206dup, NC_000017.10:g.36857202_36857206dup, NC_000017.10:g.36857201_36857206dup, NC_000017.10:g.36857200_36857206dup, NC_000017.10:g.36857199_36857206dup, NT_187614.1:g.2736257_2736272del, NT_187614.1:g.2736258_2736272del, NT_187614.1:g.2736259_2736272del, NT_187614.1:g.2736260_2736272del, NT_187614.1:g.2736261_2736272del, NT_187614.1:g.2736262_2736272del, NT_187614.1:g.2736263_2736272del, NT_187614.1:g.2736264_2736272del, NT_187614.1:g.2736265_2736272del, NT_187614.1:g.2736266_2736272del, NT_187614.1:g.2736267_2736272del, NT_187614.1:g.2736268_2736272del, NT_187614.1:g.2736269_2736272del, NT_187614.1:g.2736270_2736272del, NT_187614.1:g.2736271_2736272del, NT_187614.1:g.2736272del, NT_187614.1:g.2736272dup, NT_187614.1:g.2736271_2736272dup, NT_187614.1:g.2736270_2736272dup, NT_187614.1:g.2736269_2736272dup, NT_187614.1:g.2736268_2736272dup, NT_187614.1:g.2736267_2736272dup, NT_187614.1:g.2736266_2736272dup, NT_187614.1:g.2736265_2736272dup
3.
rs1491287293 has merged into rs60056669 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ACACACACACACACACACACAC>-,AC,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACAC
[Show Flanks]
- Chromosome:
- 17:38696699
(GRCh38)
17:36852952
(GRCh37)
- Canonical SPDI:
- NC_000017.11:38696682:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACAC,NC_000017.11:38696682:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACAC,NC_000017.11:38696682:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACAC,NC_000017.11:38696682:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACAC,NC_000017.11:38696682:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000017.11:38696682:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000017.11:38696682:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC,NC_000017.11:38696682:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACAC,NC_000017.11:38696682:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACAC,NC_000017.11:38696682:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACAC,NC_000017.11:38696682:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACAC,NC_000017.11:38696682:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACAC,NC_000017.11:38696682:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACAC,NC_000017.11:38696682:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACAC,NC_000017.11:38696682:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACAC,NC_000017.11:38696682:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000017.11:38696682:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000017.11:38696682:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000017.11:38696682:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000017.11:38696682:ACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACACAC=0./0
(
ALFA)
-=0.378/1893
(1000Genomes)
- HGVS:
NC_000017.11:g.38696683AC[8], NC_000017.11:g.38696683AC[9], NC_000017.11:g.38696683AC[10], NC_000017.11:g.38696683AC[11], NC_000017.11:g.38696683AC[12], NC_000017.11:g.38696683AC[13], NC_000017.11:g.38696683AC[14], NC_000017.11:g.38696683AC[15], NC_000017.11:g.38696683AC[16], NC_000017.11:g.38696683AC[17], NC_000017.11:g.38696683AC[18], NC_000017.11:g.38696683AC[20], NC_000017.11:g.38696683AC[21], NC_000017.11:g.38696683AC[22], NC_000017.11:g.38696683AC[23], NC_000017.11:g.38696683AC[24], NC_000017.11:g.38696683AC[25], NC_000017.11:g.38696683AC[26], NC_000017.11:g.38696683AC[27], NC_000017.11:g.38696683AC[28], NC_000017.10:g.36852936AC[8], NC_000017.10:g.36852936AC[9], NC_000017.10:g.36852936AC[10], NC_000017.10:g.36852936AC[11], NC_000017.10:g.36852936AC[12], NC_000017.10:g.36852936AC[13], NC_000017.10:g.36852936AC[14], NC_000017.10:g.36852936AC[15], NC_000017.10:g.36852936AC[16], NC_000017.10:g.36852936AC[17], NC_000017.10:g.36852936AC[18], NC_000017.10:g.36852936AC[20], NC_000017.10:g.36852936AC[21], NC_000017.10:g.36852936AC[22], NC_000017.10:g.36852936AC[23], NC_000017.10:g.36852936AC[24], NC_000017.10:g.36852936AC[25], NC_000017.10:g.36852936AC[26], NC_000017.10:g.36852936AC[27], NC_000017.10:g.36852936AC[28], NT_187614.1:g.2732002AC[8], NT_187614.1:g.2732002AC[9], NT_187614.1:g.2732002AC[10], NT_187614.1:g.2732002AC[11], NT_187614.1:g.2732002AC[12], NT_187614.1:g.2732002AC[13], NT_187614.1:g.2732002AC[14], NT_187614.1:g.2732002AC[15], NT_187614.1:g.2732002AC[16], NT_187614.1:g.2732002AC[17], NT_187614.1:g.2732002AC[18], NT_187614.1:g.2732002AC[20], NT_187614.1:g.2732002AC[21], NT_187614.1:g.2732002AC[22], NT_187614.1:g.2732002AC[23], NT_187614.1:g.2732002AC[24], NT_187614.1:g.2732002AC[25], NT_187614.1:g.2732002AC[26], NT_187614.1:g.2732002AC[27], NT_187614.1:g.2732002AC[28]
4.
rs1490805470 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 17:38696117
(GRCh38)
17:36852370
(GRCh37)
- Canonical SPDI:
- NC_000017.11:38696116:C:A
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
5.
rs1490735246 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:38695123
(GRCh38)
17:36851376
(GRCh37)
- Canonical SPDI:
- NC_000017.11:38695122:C:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
6.
rs1490713970 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:38695275
(GRCh38)
17:36851528
(GRCh37)
- Canonical SPDI:
- NC_000017.11:38695274:C:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
7.
rs1490570322 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 17:38696041
(GRCh38)
17:36852294
(GRCh37)
- Canonical SPDI:
- NC_000017.11:38696040:G:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
8.
rs1490221713 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 17:38694674
(GRCh38)
17:36850927
(GRCh37)
- Canonical SPDI:
- NC_000017.11:38694673:A:C,NC_000017.11:38694673:A:G
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
9.
rs1489718386 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 17:38696925
(GRCh38)
17:36853178
(GRCh37)
- Canonical SPDI:
- NC_000017.11:38696924:C:A
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
10.
rs1489513059 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:38690279
(GRCh38)
17:36846532
(GRCh37)
- Canonical SPDI:
- NC_000017.11:38690278:G:A
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
11.
rs1489283439 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 17:38697249
(GRCh38)
17:36853502
(GRCh37)
- Canonical SPDI:
- NC_000017.11:38697248:C:G
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000011/3
(TOPMED)
- HGVS:
12.
rs1489281620 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:38689500
(GRCh38)
17:36845753
(GRCh37)
- Canonical SPDI:
- NC_000017.11:38689499:T:C
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000021/3
(GnomAD)
- HGVS:
13.
rs1489253969 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 17:38704705
(GRCh38)
17:36860958
(GRCh37)
- Canonical SPDI:
- NC_000017.11:38704704:G:T
- Gene:
- MLLT6 (Varview), LOC105371763 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000035/1
(TOMMO)
- HGVS:
14.
rs1489104801 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 17:38690019
(GRCh38)
17:36846272
(GRCh37)
- Canonical SPDI:
- NC_000017.11:38690018:G:C
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
15.
rs1489002719 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:38703963
(GRCh38)
17:36860216
(GRCh37)
- Canonical SPDI:
- NC_000017.11:38703962:C:T
- Gene:
- MLLT6 (Varview), MIR4734 (Varview), LOC105371763 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_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:
16.
rs1488687336 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 17:38693735
(GRCh38)
17:36849988
(GRCh37)
- Canonical SPDI:
- NC_000017.11:38693734:G:A,NC_000017.11:38693734:G:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
17.
rs1488633882 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 17:38691590
(GRCh38)
17:36847843
(GRCh37)
- Canonical SPDI:
- NC_000017.11:38691589:C:A
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
19.
rs1488080162 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:38693966
(GRCh38)
17:36850219
(GRCh37)
- Canonical SPDI:
- NC_000017.11:38693965:C:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
20.
rs1487519354 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:38689543
(GRCh38)
17:36845796
(GRCh37)
- Canonical SPDI:
- NC_000017.11:38689542:C:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000312/2
(1000Genomes)
- HGVS: