Links from Gene
Items: 1 to 20 of 5136
2.
rs1491473123 has merged into rs3083918 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TAATAATAA>-,TAA,TAATAA,TAATAATAATAA,TAATAATAATAATAA,TAATAATAATAATAATAA,TAATAATAATAATAATAATAA,TAATAATAATAATAATAATAATAA
[Show Flanks]
- Chromosome:
- 15:67834553
(GRCh38)
15:68126891
(GRCh37)
- Canonical SPDI:
- NC_000015.10:67834537:TAATAATAATAATAATAATAATAA:TAATAATAATAATAA,NC_000015.10:67834537:TAATAATAATAATAATAATAATAA:TAATAATAATAATAATAA,NC_000015.10:67834537:TAATAATAATAATAATAATAATAA:TAATAATAATAATAATAATAA,NC_000015.10:67834537:TAATAATAATAATAATAATAATAA:TAATAATAATAATAATAATAATAATAA,NC_000015.10:67834537:TAATAATAATAATAATAATAATAA:TAATAATAATAATAATAATAATAATAATAA,NC_000015.10:67834537:TAATAATAATAATAATAATAATAA:TAATAATAATAATAATAATAATAATAATAATAA,NC_000015.10:67834537:TAATAATAATAATAATAATAATAA:TAATAATAATAATAATAATAATAATAATAATAATAA,NC_000015.10:67834537:TAATAATAATAATAATAATAATAA:TAATAATAATAATAATAATAATAATAATAATAATAATAA
- Gene:
- SKOR1 (Varview), LOC101929076 (Varview), LOC105370870 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TAATAATAATAATAATAA=0./0
(
ALFA)
TAATAATAATAA=0.000128/34
(TOPMED)
TAA=0.077494/94
(1000Genomes)
- HGVS:
NC_000015.10:g.67834538TAA[5], NC_000015.10:g.67834538TAA[6], NC_000015.10:g.67834538TAA[7], NC_000015.10:g.67834538TAA[9], NC_000015.10:g.67834538TAA[10], NC_000015.10:g.67834538TAA[11], NC_000015.10:g.67834538TAA[12], NC_000015.10:g.67834538TAA[13], NC_000015.9:g.68126876TAA[5], NC_000015.9:g.68126876TAA[6], NC_000015.9:g.68126876TAA[7], NC_000015.9:g.68126876TAA[9], NC_000015.9:g.68126876TAA[10], NC_000015.9:g.68126876TAA[11], NC_000015.9:g.68126876TAA[12], NC_000015.9:g.68126876TAA[13], NM_001365915.1:c.*702TAA[5], NM_001365915.1:c.*702TAA[6], NM_001365915.1:c.*702TAA[7], NM_001365915.1:c.*702TAA[9], NM_001365915.1:c.*702TAA[10], NM_001365915.1:c.*702TAA[11], NM_001365915.1:c.*702TAA[12], NM_001365915.1:c.*702TAA[13], NR_120345.1:n.1735TTA[5], NR_120345.1:n.1735TTA[6], NR_120345.1:n.1735TTA[7], NR_120345.1:n.1735TTA[9], NR_120345.1:n.1735TTA[10], NR_120345.1:n.1735TTA[11], NR_120345.1:n.1735TTA[12], NR_120345.1:n.1735TTA[13]
3.
rs1491349442 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 15:67819075
(GRCh38)
15:68111413
(GRCh37)
- Canonical SPDI:
- NC_000015.10:67819073:TTT:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
-=0.00268/212
(GnomAD)
-=0.00346/2
(NorthernSweden)
-=0.00388/7
(Korea1K)
-=0.00732/122
(TOMMO)
- HGVS:
4.
rs1491317609 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CC
[Show Flanks]
- Chromosome:
- 15:67819076
(GRCh38)
15:68111415
(GRCh37)
- Canonical SPDI:
- NC_000015.10:67819076:C:CCC
- Validated:
- by frequency
- MAF:
CC=0.00039/14
(GnomAD)
- HGVS:
5.
rs1491105291 has merged into rs1156556745 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CTCTCTCTCTCTCTCTCTCTCTCT>-,CT,CTCT,CTCTCT,CTCTCTCT,CTCTCTCTCT,CTCTCTCTCTCT,CTCTCTCTCTCTCT,CTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT
[Show Flanks]
- Chromosome:
- 15:67819093
(GRCh38)
15:68111431
(GRCh37)
- Canonical SPDI:
- NC_000015.10:67819075:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCT,NC_000015.10:67819075:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCT,NC_000015.10:67819075:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCT,NC_000015.10:67819075:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCT,NC_000015.10:67819075:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCT,NC_000015.10:67819075:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000015.10:67819075:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000015.10:67819075:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000015.10:67819075:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000015.10:67819075:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000015.10:67819075:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000015.10:67819075:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000015.10:67819075:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000015.10:67819075:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000015.10:67819075:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000015.10:67819075:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000015.10:67819075:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000015.10:67819075:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000015.10:67819075:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000015.10:67819075:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCTCTCTCTCTCTCTCTCT=0./0
(
ALFA)
- HGVS:
NC_000015.10:g.67819077CT[8], NC_000015.10:g.67819077CT[9], NC_000015.10:g.67819077CT[10], NC_000015.10:g.67819077CT[11], NC_000015.10:g.67819077CT[12], NC_000015.10:g.67819077CT[13], NC_000015.10:g.67819077CT[14], NC_000015.10:g.67819077CT[15], NC_000015.10:g.67819077CT[16], NC_000015.10:g.67819077CT[17], NC_000015.10:g.67819077CT[18], NC_000015.10:g.67819077CT[19], NC_000015.10:g.67819077CT[21], NC_000015.10:g.67819077CT[22], NC_000015.10:g.67819077CT[23], NC_000015.10:g.67819077CT[24], NC_000015.10:g.67819077CT[25], NC_000015.10:g.67819077CT[26], NC_000015.10:g.67819077CT[27], NC_000015.10:g.67819077CT[28], NC_000015.9:g.68111415CT[8], NC_000015.9:g.68111415CT[9], NC_000015.9:g.68111415CT[10], NC_000015.9:g.68111415CT[11], NC_000015.9:g.68111415CT[12], NC_000015.9:g.68111415CT[13], NC_000015.9:g.68111415CT[14], NC_000015.9:g.68111415CT[15], NC_000015.9:g.68111415CT[16], NC_000015.9:g.68111415CT[17], NC_000015.9:g.68111415CT[18], NC_000015.9:g.68111415CT[19], NC_000015.9:g.68111415CT[21], NC_000015.9:g.68111415CT[22], NC_000015.9:g.68111415CT[23], NC_000015.9:g.68111415CT[24], NC_000015.9:g.68111415CT[25], NC_000015.9:g.68111415CT[26], NC_000015.9:g.68111415CT[27], NC_000015.9:g.68111415CT[28]
6.
rs1490983972 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:67819941
(GRCh38)
15:68112279
(GRCh37)
- Canonical SPDI:
- NC_000015.10:67819940: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.
rs1490840533 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 15:67827276
(GRCh38)
15:68119614
(GRCh37)
- Canonical SPDI:
- NC_000015.10:67827275:C:G
- Gene:
- SKOR1 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
8.
rs1490581476 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 15:67832794
(GRCh38)
15:68125132
(GRCh37)
- Canonical SPDI:
- NC_000015.10:67832793:A:G,NC_000015.10:67832793:A:T
- Gene:
- SKOR1 (Varview), LOC105370870 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
10.
rs1490438982 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 15:67826131
(GRCh38)
15:68118469
(GRCh37)
- Canonical SPDI:
- NC_000015.10:67826130:G:T
- Gene:
- SKOR1 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
11.
rs1490348296 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:67822252
(GRCh38)
15:68114590
(GRCh37)
- Canonical SPDI:
- NC_000015.10:67822251:G:A
- Gene:
- LOC124903570 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS:
12.
rs1490201136 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:67822085
(GRCh38)
15:68114423
(GRCh37)
- Canonical SPDI:
- NC_000015.10:67822084:G:A
- Gene:
- LOC124903570 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
14.
rs1490163229 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:67821967
(GRCh38)
15:68114305
(GRCh37)
- Canonical SPDI:
- NC_000015.10:67821966:G:A
- Gene:
- LOC124903570 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000015/2
(GnomAD_exomes)
- HGVS:
15.
rs1490022398 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C,T
[Show Flanks]
- Chromosome:
- 15:67827594
(GRCh38)
15:68119932
(GRCh37)
- Canonical SPDI:
- NC_000015.10:67827593:G:A,NC_000015.10:67827593:G:C,NC_000015.10:67827593:G:T
- Gene:
- SKOR1 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
NC_000015.10:g.67827594G>A, NC_000015.10:g.67827594G>C, NC_000015.10:g.67827594G>T, NC_000015.9:g.68119932G>A, NC_000015.9:g.68119932G>C, NC_000015.9:g.68119932G>T, NM_001365915.1:c.1766G>A, NM_001365915.1:c.1766G>C, NM_001365915.1:c.1766G>T, NM_001031807.1:c.1634G>A, NM_001031807.1:c.1634G>C, NM_001031807.1:c.1634G>T, NM_001258024.1:c.1586G>A, NM_001258024.1:c.1586G>C, NM_001258024.1:c.1586G>T, NP_001352844.1:p.Gly589Asp, NP_001352844.1:p.Gly589Ala, NP_001352844.1:p.Gly589Val
16.
rs1489669307 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:67820887
(GRCh38)
15:68113225
(GRCh37)
- Canonical SPDI:
- NC_000015.10:67820886:G:A
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
17.
rs1489647952 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 15:67819331
(GRCh38)
15:68111669
(GRCh37)
- Canonical SPDI:
- NC_000015.10:67819330:A:G
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000029/4
(GnomAD)
G=0.000094/25
(TOPMED)
G=0.000546/1
(Korea1K)
G=0.000684/2
(KOREAN)
G=0.000708/12
(TOMMO)
- HGVS:
18.
rs1489479506 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:67829202
(GRCh38)
15:68121540
(GRCh37)
- Canonical SPDI:
- NC_000015.10:67829201:G:A
- Gene:
- SKOR1 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000015/4
(TOPMED)
- HGVS:
19.
rs1489401851 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 15:67827458
(GRCh38)
15:68119796
(GRCh37)
- Canonical SPDI:
- NC_000015.10:67827457:G:C
- Gene:
- SKOR1 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000009/1
(GnomAD_exomes)
C=0.000014/2
(GnomAD)
- HGVS: