Links from Gene
Items: 1 to 20 of 4868
1.
rs1491389779 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 1:201027790
(GRCh38)
1:200996918
(GRCh37)
- Canonical SPDI:
- NC_000001.11:201027789:CA:
- Gene:
- LOC101929305 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00059/7
(
ALFA)
-=0.00054/15
(TOMMO)
- HGVS:
2.
rs1491372154 has merged into rs71138314 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAA>-,AAA,AAAAAA,AAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 1:201027799
(GRCh38)
1:200996927
(GRCh37)
- Canonical SPDI:
- NC_000001.11:201027790:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000001.11:201027790:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:201027790:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:201027790:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:201027790:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:201027790:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:201027790:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:201027790:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:201027790:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:201027790:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:201027790:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:201027790:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:201027790:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LOC101929305 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
AAA=0.0098/49
(1000Genomes)
- HGVS:
NC_000001.11:g.201027799_201027815del, NC_000001.11:g.201027802_201027815del, NC_000001.11:g.201027805_201027815del, NC_000001.11:g.201027806_201027815del, NC_000001.11:g.201027809_201027815del, NC_000001.11:g.201027810_201027815del, NC_000001.11:g.201027811_201027815del, NC_000001.11:g.201027812_201027815del, NC_000001.11:g.201027813_201027815del, NC_000001.11:g.201027814_201027815del, NC_000001.11:g.201027815del, NC_000001.11:g.201027815dup, NC_000001.11:g.201027814_201027815dup, NC_000001.10:g.200996927_200996943del, NC_000001.10:g.200996930_200996943del, NC_000001.10:g.200996933_200996943del, NC_000001.10:g.200996934_200996943del, NC_000001.10:g.200996937_200996943del, NC_000001.10:g.200996938_200996943del, NC_000001.10:g.200996939_200996943del, NC_000001.10:g.200996940_200996943del, NC_000001.10:g.200996941_200996943del, NC_000001.10:g.200996942_200996943del, NC_000001.10:g.200996943del, NC_000001.10:g.200996943dup, NC_000001.10:g.200996942_200996943dup, NG_047130.1:g.894_910del, NG_047130.1:g.897_910del, NG_047130.1:g.900_910del, NG_047130.1:g.901_910del, NG_047130.1:g.904_910del, NG_047130.1:g.905_910del, NG_047130.1:g.906_910del, NG_047130.1:g.907_910del, NG_047130.1:g.908_910del, NG_047130.1:g.909_910del, NG_047130.1:g.910del, NG_047130.1:g.910dup, NG_047130.1:g.909_910dup
3.
rs1491195565 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 1:201036034
(GRCh38)
1:201005162
(GRCh37)
- Canonical SPDI:
- NC_000001.11:201036032:TTT:T
- Gene:
- LOC101929305 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.001012/12
(
ALFA)
-=0.000874/119
(GnomAD)
-=0.001027/17
(TOMMO)
-=0.005459/10
(Korea1K)
- HGVS:
4.
rs1490758310 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 1:201042260
(GRCh38)
1:201011388
(GRCh37)
- Canonical SPDI:
- NC_000001.11:201042259:G:A,NC_000001.11:201042259:G:T
- Gene:
- CACNA1S (Varview), LOC101929305 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000036/5
(GnomAD)
- HGVS:
5.
rs1490657523 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,G
[Show Flanks]
- Chromosome:
- 1:201025695
(GRCh38)
1:200994823
(GRCh37)
- Canonical SPDI:
- NC_000001.11:201025694:T:A,NC_000001.11:201025694:T:G
- Gene:
- KIF21B (Varview), LOC101929305 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
- HGVS:
NC_000001.11:g.201025695T>A, NC_000001.11:g.201025695T>G, NC_000001.10:g.200994823T>A, NC_000001.10:g.200994823T>G, NG_047130.1:g.3006A>T, NG_047130.1:g.3006A>C, XR_922407.4:n.1088T>A, XR_922407.4:n.1088T>G, XR_922407.3:n.1146T>A, XR_922407.3:n.1146T>G, XR_922407.2:n.1082T>A, XR_922407.2:n.1082T>G, XR_922407.1:n.1036T>A, XR_922407.1:n.1036T>G, XR_007066787.1:n.329T>A, XR_007066787.1:n.329T>G
6.
rs1490651395 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:201024553
(GRCh38)
1:200993681
(GRCh37)
- Canonical SPDI:
- NC_000001.11:201024552:A:G
- Gene:
- KIF21B (Varview), LOC101929305 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
NC_000001.11:g.201024553A>G, NC_000001.10:g.200993681A>G, NG_047130.1:g.4148T>C, XR_922407.4:n.105A>G, XR_922407.3:n.163A>G, XR_922407.2:n.99A>G, XR_922407.1:n.53A>G, XR_922405.4:n.100A>G, XR_922405.3:n.163A>G, XR_922405.2:n.99A>G, XR_922405.1:n.53A>G
7.
rs1490598260 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:201040798
(GRCh38)
1:201009926
(GRCh37)
- Canonical SPDI:
- NC_000001.11:201040797:A:G
- Gene:
- CACNA1S (Varview), LOC101929305 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
8.
rs1490385446 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:201033799
(GRCh38)
1:201002927
(GRCh37)
- Canonical SPDI:
- NC_000001.11:201033798:T:C
- Gene:
- LOC101929305 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
9.
rs1490186766 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 1:201040649
(GRCh38)
1:201009777
(GRCh37)
- Canonical SPDI:
- NC_000001.11:201040648:T:C,NC_000001.11:201040648:T:G
- Gene:
- CACNA1S (Varview), LOC101929305 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,missense_variant
- Clinical significance:
- likely-benign
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
NC_000001.11:g.201040649T>C, NC_000001.11:g.201040649T>G, NC_000001.10:g.201009777T>C, NC_000001.10:g.201009777T>G, NG_009816.2:g.76918A>G, NG_009816.2:g.76918A>C, NM_000069.3:c.5199A>G, NM_000069.3:c.5199A>C, NM_000069.2:c.5199A>G, NM_000069.2:c.5199A>C, XM_005245478.4:c.5142A>G, XM_005245478.4:c.5142A>C, XM_005245478.3:c.5142A>G, XM_005245478.3:c.5142A>C, XM_005245478.2:c.5142A>G, XM_005245478.2:c.5142A>C, XM_005245478.1:c.5142A>G, XM_005245478.1:c.5142A>C, NP_000060.2:p.Arg1733Ser, XP_005245535.1:p.Arg1714Ser
10.
rs1490174869 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:201028068
(GRCh38)
1:200997196
(GRCh37)
- Canonical SPDI:
- NC_000001.11:201028067:G:A
- Gene:
- LOC101929305 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
11.
rs1490167837 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:201025178
(GRCh38)
1:200994306
(GRCh37)
- Canonical SPDI:
- NC_000001.11:201025177:A:G
- Gene:
- KIF21B (Varview), LOC101929305 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000156/1
(1000Genomes)
- HGVS:
NC_000001.11:g.201025178A>G, NC_000001.10:g.200994306A>G, NG_047130.1:g.3523T>C, XR_922407.4:n.730A>G, XR_922407.3:n.788A>G, XR_922407.2:n.724A>G, XR_922407.1:n.678A>G, XR_922405.4:n.725A>G, XR_922405.3:n.788A>G, XR_922405.2:n.724A>G, XR_922405.1:n.678A>G
12.
rs1490011160 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:201029228
(GRCh38)
1:200998356
(GRCh37)
- Canonical SPDI:
- NC_000001.11:201029227:A:G
- Gene:
- LOC101929305 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000015/4
(TOPMED)
- HGVS:
13.
rs1489936919 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 1:201032412
(GRCh38)
1:201001540
(GRCh37)
- Canonical SPDI:
- NC_000001.11:201032411:C:G
- Gene:
- LOC101929305 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000021/3
(GnomAD)
- HGVS:
14.
rs1489900592 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 1:201026832
(GRCh38)
1:200995960
(GRCh37)
- Canonical SPDI:
- NC_000001.11:201026831:C:G
- Gene:
- LOC101929305 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000026/7
(TOPMED)
G=0.000043/6
(GnomAD)
- HGVS:
15.
rs1489886719 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 1:201033394
(GRCh38)
1:201002522
(GRCh37)
- Canonical SPDI:
- NC_000001.11:201033393:G:A,NC_000001.11:201033393:G:C
- Gene:
- LOC101929305 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
- HGVS:
16.
rs1489568040 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 1:201038729
(GRCh38)
1:201007857
(GRCh37)
- Canonical SPDI:
- NC_000001.11:201038728:G:C
- Gene:
- LOC101929305 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
17.
rs1489560670 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:201024683
(GRCh38)
1:200993811
(GRCh37)
- Canonical SPDI:
- NC_000001.11:201024682:G:A
- Gene:
- KIF21B (Varview), LOC101929305 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000015/4
(TOPMED)
- HGVS:
NC_000001.11:g.201024683G>A, NC_000001.10:g.200993811G>A, NG_047130.1:g.4018C>T, XR_922407.4:n.235G>A, XR_922407.3:n.293G>A, XR_922407.2:n.229G>A, XR_922407.1:n.183G>A, XR_922405.4:n.230G>A, XR_922405.3:n.293G>A, XR_922405.2:n.229G>A, XR_922405.1:n.183G>A
18.
rs1489536918 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 1:201038797
(GRCh38)
1:201007925
(GRCh37)
- Canonical SPDI:
- NC_000001.11:201038796:G:A,NC_000001.11:201038796:G:C
- Gene:
- LOC101929305 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
19.
rs1489529536 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 1:201037726
(GRCh38)
1:201006854
(GRCh37)
- Canonical SPDI:
- NC_000001.11:201037725:A:T
- Gene:
- LOC101929305 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000198/3
(
ALFA)
T=0.000029/4
(GnomAD)
T=0.00067/3
(Estonian)
- HGVS:
20.
rs1489435287 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:201039762
(GRCh38)
1:201008890
(GRCh37)
- Canonical SPDI:
- NC_000001.11:201039761:C:T
- Gene:
- CACNA1S (Varview), LOC101929305 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant,genic_downstream_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: