Links from Gene
Items: 1 to 20 of 3027
1.
rs1491549772 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 9:37800648
(GRCh38)
9:37800645
(GRCh37)
- Canonical SPDI:
- NC_000009.12:37800647:GT:
- Gene:
- DCAF10 (Varview), LOC105376037 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,splice_donor_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000015/2
(GnomAD_exomes)
-=0.001092/2
(Korea1K)
- HGVS:
2.
rs1491365474 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->ACTA
[Show Flanks]
- Chromosome:
- 9:37800648
(GRCh38)
9:37800646
(GRCh37)
- Canonical SPDI:
- NC_000009.12:37800648:TAACTA:TAACTAACTA
- Gene:
- DCAF10 (Varview), LOC105376037 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,splice_donor_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TAACTAACTA=0./0
(
ALFA)
TAAC=0.000007/1
(GnomAD)
TAAC=0.000008/2
(TOPMED)
- HGVS:
3.
rs1491026758 has merged into rs371884745 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 9:37792719
(GRCh38)
9:37792716
(GRCh37)
- Canonical SPDI:
- NC_000009.12:37792704:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:37792704:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:37792704:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:37792704:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:37792704:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000009.12:37792704:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:37792704:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:37792704:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LOC105376037 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTTTTTT=0./0
(
ALFA)
T=0.125/1
(KOREAN)
T=0.356/1783
(1000Genomes)
T=0.425/17
(GENOME_DK)
- HGVS:
NC_000009.12:g.37792719_37792721del, NC_000009.12:g.37792720_37792721del, NC_000009.12:g.37792721del, NC_000009.12:g.37792721dup, NC_000009.12:g.37792720_37792721dup, NC_000009.12:g.37792719_37792721dup, NC_000009.12:g.37792712_37792721dup, NC_000009.12:g.37792721_37792722insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.37792716_37792718del, NC_000009.11:g.37792717_37792718del, NC_000009.11:g.37792718del, NC_000009.11:g.37792718dup, NC_000009.11:g.37792717_37792718dup, NC_000009.11:g.37792716_37792718dup, NC_000009.11:g.37792709_37792718dup, NC_000009.11:g.37792718_37792719insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
5.
rs1490542394 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:37796489
(GRCh38)
9:37796486
(GRCh37)
- Canonical SPDI:
- NC_000009.12:37796488:C:T
- Gene:
- LOC105376037 (Varview)
- Functional Consequence:
- intron_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.
rs1490475305 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 9:37795286
(GRCh38)
9:37795283
(GRCh37)
- Canonical SPDI:
- NC_000009.12:37795285:C:G,NC_000009.12:37795285:C:T
- Gene:
- LOC105376037 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000014/2
(GnomAD)
G=0.000546/1
(Korea1K)
- HGVS:
7.
rs1490211415 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 9:37800854
(GRCh38)
9:37800851
(GRCh37)
- Canonical SPDI:
- NC_000009.12:37800853:G:A,NC_000009.12:37800853:G:T
- Gene:
- DCAF10 (Varview), LOC105376037 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000021/3
(GnomAD)
A=0.000022/2
(GnomAD_exomes)
- HGVS:
NC_000009.12:g.37800854G>A, NC_000009.12:g.37800854G>T, NC_000009.11:g.37800851G>A, NC_000009.11:g.37800851G>T, NM_024345.5:c.-13G>A, NM_024345.5:c.-13G>T, NM_024345.4:c.-13G>A, NM_024345.4:c.-13G>T, NM_024345.3:c.-13G>A, NM_024345.3:c.-13G>T, XM_005251577.5:c.-13G>A, XM_005251577.5:c.-13G>T, XM_005251577.4:c.-13G>A, XM_005251577.4:c.-13G>T, XM_005251577.3:c.-13G>A, XM_005251577.3:c.-13G>T, XM_005251577.2:c.-13G>A, XM_005251577.2:c.-13G>T, XM_005251577.1:c.-13G>A, XM_005251577.1:c.-13G>T, XM_005251578.5:c.-13G>A, XM_005251578.5:c.-13G>T, XM_005251578.4:c.-13G>A, XM_005251578.4:c.-13G>T, XM_005251578.3:c.-13G>A, XM_005251578.3:c.-13G>T, XM_005251578.2:c.-13G>A, XM_005251578.2:c.-13G>T, XM_005251578.1:c.-13G>A, XM_005251578.1:c.-13G>T, XR_929599.3:n.38C>T, XR_929599.3:n.38C>A, XM_017015128.2:c.-13G>A, XM_017015128.2:c.-13G>T, XM_017015128.1:c.-13G>A, XM_017015128.1:c.-13G>T, XM_047423864.1:c.-13G>A, XM_047423864.1:c.-13G>T
8.
rs1490152831 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:37794304
(GRCh38)
9:37794301
(GRCh37)
- Canonical SPDI:
- NC_000009.12:37794303:A:G
- Gene:
- LOC105376037 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000009/1
(GnomAD)
- HGVS:
9.
rs1489955924 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:37793683
(GRCh38)
9:37793680
(GRCh37)
- Canonical SPDI:
- NC_000009.12:37793682:T:C
- Gene:
- LOC105376037 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000011/3
(TOPMED)
- HGVS:
10.
rs1489688054 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:37792139
(GRCh38)
9:37792136
(GRCh37)
- Canonical SPDI:
- NC_000009.12:37792138:A:G
- Gene:
- LOC105376037 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
11.
rs1489555042 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:37793511
(GRCh38)
9:37793508
(GRCh37)
- Canonical SPDI:
- NC_000009.12:37793510:C:T
- Gene:
- LOC105376037 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
- HGVS:
12.
rs1489285166 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 9:37797141
(GRCh38)
9:37797138
(GRCh37)
- Canonical SPDI:
- NC_000009.12:37797140:T:G
- Gene:
- LOC105376037 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
13.
rs1489192862 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 9:37795965
(GRCh38)
9:37795962
(GRCh37)
- Canonical SPDI:
- NC_000009.12:37795964:G:C
- Gene:
- LOC105376037 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
14.
rs1489191630 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 9:37796393
(GRCh38)
9:37796390
(GRCh37)
- Canonical SPDI:
- NC_000009.12:37796392:C:G
- Gene:
- LOC105376037 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
15.
rs1488217599 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 9:37795846
(GRCh38)
9:37795843
(GRCh37)
- Canonical SPDI:
- NC_000009.12:37795845:A:C
- Gene:
- LOC105376037 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
16.
rs1487898789 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:37799792
(GRCh38)
9:37799789
(GRCh37)
- Canonical SPDI:
- NC_000009.12:37799791:A:G
- Gene:
- DCAF10 (Varview), LOC105376037 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
- HGVS:
17.
rs1487662425 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 9:37797191
(GRCh38)
9:37797188
(GRCh37)
- Canonical SPDI:
- NC_000009.12:37797190:C:A
- Gene:
- LOC105376037 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
A=0.000007/1
(GnomAD)
- HGVS:
18.
rs1487638407 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 9:37791333
(GRCh38)
9:37791330
(GRCh37)
- Canonical SPDI:
- NC_000009.12:37791332:T:A
- Gene:
- LOC105376037 (Varview)
- Functional Consequence:
- 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:
19.
rs1487605210 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:37792490
(GRCh38)
9:37792487
(GRCh37)
- Canonical SPDI:
- NC_000009.12:37792489:G:A
- Gene:
- LOC105376037 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
20.
rs1487333088 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 9:37798275
(GRCh38)
9:37798272
(GRCh37)
- Canonical SPDI:
- NC_000009.12:37798274:C:G
- Gene:
- LOC105376037 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS: