Links from Gene
Items: 1 to 20 of 9845
1.
rs1491261647 has merged into rs375232346 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-,AA,AAA,AAAAAA
[Show Flanks]
- Chromosome:
- 11:33685668
(GRCh38)
11:33707214
(GRCh37)
- Canonical SPDI:
- NC_000011.10:33685667:AAAAAAAAAAA:AAAAAAAAAA,NC_000011.10:33685667:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:33685667:AAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:33685667:AAAAAAAAAAA:AAAAAAAAAAAAAAAA
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
2.
rs1491242123 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 11:33661879
(GRCh38)
11:33683425
(GRCh37)
- Canonical SPDI:
- NC_000011.10:33661878:CA:
- Gene:
- KIAA1549L (Varview), LOC105376617 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.00061/17
(TOMMO)
- HGVS:
3.
rs1491231646 has merged into rs59140753 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 11:33661892
(GRCh38)
11:33683438
(GRCh37)
- Canonical SPDI:
- NC_000011.10:33661879:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:33661879:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:33661879:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:33661879:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:33661879:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:33661879:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:33661879:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:33661879:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:33661879:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:33661879:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:33661879:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:33661879:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:33661879:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:33661879:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:33661879:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:33661879:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:33661879:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:33661879:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:33661879:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:33661879:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:33661879:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:33661879:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:33661879:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:33661879:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- KIAA1549L (Varview), LOC105376617 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAA=0./0
(
ALFA)
-=0.000038/10
(TOPMED)
- HGVS:
NC_000011.10:g.33661892_33661906del, NC_000011.10:g.33661893_33661906del, NC_000011.10:g.33661894_33661906del, NC_000011.10:g.33661895_33661906del, NC_000011.10:g.33661896_33661906del, NC_000011.10:g.33661897_33661906del, NC_000011.10:g.33661898_33661906del, NC_000011.10:g.33661899_33661906del, NC_000011.10:g.33661900_33661906del, NC_000011.10:g.33661901_33661906del, NC_000011.10:g.33661902_33661906del, NC_000011.10:g.33661903_33661906del, NC_000011.10:g.33661904_33661906del, NC_000011.10:g.33661905_33661906del, NC_000011.10:g.33661906del, NC_000011.10:g.33661906dup, NC_000011.10:g.33661905_33661906dup, NC_000011.10:g.33661904_33661906dup, NC_000011.10:g.33661903_33661906dup, NC_000011.10:g.33661902_33661906dup, NC_000011.10:g.33661900_33661906dup, NC_000011.10:g.33661898_33661906dup, NC_000011.10:g.33661896_33661906dup, NC_000011.10:g.33661894_33661906dup, NC_000011.9:g.33683438_33683452del, NC_000011.9:g.33683439_33683452del, NC_000011.9:g.33683440_33683452del, NC_000011.9:g.33683441_33683452del, NC_000011.9:g.33683442_33683452del, NC_000011.9:g.33683443_33683452del, NC_000011.9:g.33683444_33683452del, NC_000011.9:g.33683445_33683452del, NC_000011.9:g.33683446_33683452del, NC_000011.9:g.33683447_33683452del, NC_000011.9:g.33683448_33683452del, NC_000011.9:g.33683449_33683452del, NC_000011.9:g.33683450_33683452del, NC_000011.9:g.33683451_33683452del, NC_000011.9:g.33683452del, NC_000011.9:g.33683452dup, NC_000011.9:g.33683451_33683452dup, NC_000011.9:g.33683450_33683452dup, NC_000011.9:g.33683449_33683452dup, NC_000011.9:g.33683448_33683452dup, NC_000011.9:g.33683446_33683452dup, NC_000011.9:g.33683444_33683452dup, NC_000011.9:g.33683442_33683452dup, NC_000011.9:g.33683440_33683452dup
4.
rs1491085869 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 11:33661907
(GRCh38)
11:33683453
(GRCh37)
- Canonical SPDI:
- NC_000011.10:33661905:AGA:A
- Gene:
- KIAA1549L (Varview), LOC105376617 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0.00037/6
(TOMMO)
-=0.00171/129
(GnomAD)
-=0.00524/3
(NorthernSweden)
- HGVS:
5.
rs1490877135 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:33672952
(GRCh38)
11:33694498
(GRCh37)
- Canonical SPDI:
- NC_000011.10:33672951:A:G
- Gene:
- KIAA1549L (Varview), LOC105376617 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
G=0.0005/1
(Korea1K)
- HGVS:
NC_000011.10:g.33672952A>G, NC_000011.9:g.33694498A>G, XM_005252848.4:c.*4798A>G, XM_005252848.2:c.*4798A>G, XM_005252847.4:c.*4798A>G, XM_005252847.2:c.*4798A>G, NM_012194.3:c.*4798A>G, NM_012194.2:c.*4798A>G, XM_011519970.3:c.*4798A>G, XM_017017486.2:c.*4798A>G, XM_047426719.1:c.*4798A>G, XM_047426720.1:c.*4798A>G, NM_001410965.1:c.*4798A>G, NM_152314.1:c.*39A>G
6.
rs1490605339 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CATGTTC
[Show Flanks]
- Chromosome:
- 11:33690669
(GRCh38)
11:33712216
(GRCh37)
- Canonical SPDI:
- NC_000011.10:33690669:ATGTTC:ATGTTCCATGTTC
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATGTTCCATGTTC=0./0
(
ALFA)
ATGTTCC=0.000004/1
(TOPMED)
ATGTTCC=0.000007/1
(GnomAD)
- HGVS:
7.
rs1490544841 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 11:33660957
(GRCh38)
11:33682503
(GRCh37)
- Canonical SPDI:
- NC_000011.10:33660956:C:G
- Gene:
- KIAA1549L (Varview), LOC105376617 (Varview)
- Functional Consequence:
- intron_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
- Validated:
- by frequency
- MAF:
G=0.000008/2
(GnomAD_exomes)
- HGVS:
NC_000011.10:g.33660957C>G, NC_000011.9:g.33682503C>G, XM_005252848.4:c.6117C>G, XM_005252848.3:c.5226C>G, XM_005252848.2:c.5226C>G, XM_005252848.1:c.5226C>G, XM_005252847.4:c.5346C>G, XM_005252847.3:c.5346C>G, XM_005252847.2:c.5346C>G, XM_005252847.1:c.5229C>G, NM_012194.3:c.6102C>G, NM_012194.2:c.5211C>G, XM_011519970.3:c.3912C>G, XM_017017486.2:c.3909C>G, XM_017017486.1:c.3909C>G, XM_047426719.1:c.6120C>G, XM_047426720.1:c.6099C>G, NM_001410965.1:c.3912C>G, XP_005252905.2:p.Asn2039Lys, XP_005252904.2:p.Asn1782Lys, NP_036326.3:p.Asn2034Lys, XP_011518272.1:p.Asn1304Lys, XP_016872975.1:p.Asn1303Lys, XP_047282675.1:p.Asn2040Lys, XP_047282676.1:p.Asn2033Lys
8.
rs1490502763 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 11:33659029
(GRCh38)
11:33680575
(GRCh37)
- Canonical SPDI:
- NC_000011.10:33659028:C:G
- Gene:
- KIAA1549L (Varview), LOC105376617 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
G=0.000342/1
(KOREAN)
G=0.000779/13
(TOMMO)
- HGVS:
9.
rs1490412963 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:33674973
(GRCh38)
11:33696519
(GRCh37)
- Canonical SPDI:
- NC_000011.10:33674972:C:T
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
10.
rs1490376756 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:33655141
(GRCh38)
11:33676687
(GRCh37)
- Canonical SPDI:
- NC_000011.10:33655140:T:C
- Gene:
- KIAA1549L (Varview), LOC105376617 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
11.
rs1490319974 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:33669240
(GRCh38)
11:33690786
(GRCh37)
- Canonical SPDI:
- NC_000011.10:33669239:C:T
- Gene:
- KIAA1549L (Varview), LOC105376617 (Varview)
- Functional Consequence:
- intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
T=0.00006/1
(TOMMO)
- HGVS:
NC_000011.10:g.33669240C>T, NC_000011.9:g.33690786C>T, XM_005252848.4:c.*1086C>T, XM_005252848.3:c.*1086C>T, XM_005252848.2:c.*1086C>T, XM_005252848.1:c.*1086C>T, XM_005252847.4:c.*1086C>T, XM_005252847.3:c.*1086C>T, XM_005252847.2:c.*1086C>T, XM_005252847.1:c.*1086C>T, NM_012194.3:c.*1086C>T, NM_012194.2:c.*1086C>T, XM_011519970.3:c.*1086C>T, XM_017017486.2:c.*1086C>T, XM_017017486.1:c.*1086C>T, XM_047426719.1:c.*1086C>T, XM_047426720.1:c.*1086C>T, NM_001410965.1:c.*1086C>T
12.
rs1490062870 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:33688607
(GRCh38)
11:33710153
(GRCh37)
- Canonical SPDI:
- NC_000011.10:33688606:C:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
13.
rs1490054879 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:33657216
(GRCh38)
11:33678762
(GRCh37)
- Canonical SPDI:
- NC_000011.10:33657215:C:T
- Gene:
- KIAA1549L (Varview), LOC105376617 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
14.
rs1490016204 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:33690689
(GRCh38)
11:33712235
(GRCh37)
- Canonical SPDI:
- NC_000011.10:33690688:T:C
- Validated:
- by frequency,by alfa
- MAF:
C=0.000071/1
(
ALFA)
C=0.000021/3
(GnomAD)
C=0.000023/6
(TOPMED)
- HGVS:
15.
rs1489924831 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 11:33674487
(GRCh38)
11:33696033
(GRCh37)
- Canonical SPDI:
- NC_000011.10:33674486:A:T
- Gene:
- KIAA1549L (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
T=0.000156/1
(1000Genomes)
T=0.000342/1
(KOREAN)
T=0.001345/23
(TOMMO)
- HGVS:
16.
rs1489898610 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:33673265
(GRCh38)
11:33694811
(GRCh37)
- Canonical SPDI:
- NC_000011.10:33673264:G:A
- Gene:
- KIAA1549L (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
NC_000011.10:g.33673265G>A, NC_000011.9:g.33694811G>A, XM_005252848.4:c.*5111G>A, XM_005252848.2:c.*5111G>A, XM_005252847.4:c.*5111G>A, XM_005252847.2:c.*5111G>A, NM_012194.3:c.*5111G>A, NM_012194.2:c.*5111G>A, XM_011519970.3:c.*5111G>A, XM_017017486.2:c.*5111G>A, XM_047426719.1:c.*5111G>A, XM_047426720.1:c.*5111G>A, NM_001410965.1:c.*5111G>A, NM_152314.1:c.*352G>A
17.
rs1489854951 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:33696869
(GRCh38)
11:33718415
(GRCh37)
- Canonical SPDI:
- NC_000011.10:33696868:G:A
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000015/4
(TOPMED)
- HGVS:
18.
rs1489794805 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:33675252
(GRCh38)
11:33696798
(GRCh37)
- Canonical SPDI:
- NC_000011.10:33675251:G:A
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
19.
rs1489721737 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:33671635
(GRCh38)
11:33693181
(GRCh37)
- Canonical SPDI:
- NC_000011.10:33671634:A:G
- Gene:
- KIAA1549L (Varview), LOC105376617 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.001342/6
(
ALFA)
G=0.000039/5
(GnomAD)
G=0.001339/6
(Estonian)
- HGVS:
NC_000011.10:g.33671635A>G, NC_000011.9:g.33693181A>G, XM_005252848.4:c.*3481A>G, XM_005252848.2:c.*3481A>G, XM_005252847.4:c.*3481A>G, XM_005252847.2:c.*3481A>G, NM_012194.3:c.*3481A>G, NM_012194.2:c.*3481A>G, XM_011519970.3:c.*3481A>G, XM_017017486.2:c.*3481A>G, XM_047426719.1:c.*3481A>G, XM_047426720.1:c.*3481A>G, NM_001410965.1:c.*3481A>G
20.
rs1489698861 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:33697817
(GRCh38)
11:33719363
(GRCh37)
- Canonical SPDI:
- NC_000011.10:33697816:C:T
- Gene:
- C11orf91 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000035/1
(TOMMO)
- HGVS: