Links from Gene
Items: 1 to 20 of 3765
1.
rs1491576204 has merged into rs1553503268 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GT,GTTGT
[Show Flanks]
- Chromosome:
- 2:165865167
(GRCh38)
2:166721678
(GRCh37)
- Canonical SPDI:
- NC_000002.12:165865167:T:TGT,NC_000002.12:165865167:T:TGTTGT
- Gene:
- LOC100506124 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGT=0./0
(
ALFA)
TG=0.0399/608
(TOMMO)
TG=0.375/3
(KOREAN)
- HGVS:
2.
rs1491475816 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 2:165869822
(GRCh38)
2:166726332
(GRCh37)
- Canonical SPDI:
- NC_000002.12:165869820:TCT:T
- Gene:
- LOC100506124 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.00008/1
(
ALFA)
-=0.00092/15
(TOMMO)
- HGVS:
4.
rs1491393918 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>CC,TTTT
[Show Flanks]
- Chromosome:
- 2:165869822
(GRCh38)
2:166726332
(GRCh37)
- Canonical SPDI:
- NC_000002.12:165869821:C:CC,NC_000002.12:165869821:C:TTTT
- Gene:
- LOC100506124 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000009/1
(GnomAD)
-=0.000673/11
(TOMMO)
TTTT=0.001198/6
(1000Genomes)
-=0.001661/3
(Korea1K)
- HGVS:
5.
rs1491362778 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 2:165872754
(GRCh38)
2:166729264
(GRCh37)
- Canonical SPDI:
- NC_000002.12:165872751:ATAT:AT
- Gene:
- LOC100506124 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
ATAT=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
6.
rs1491339241 has merged into rs5836058 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTT>-,T,TTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 2:165869827
(GRCh38)
2:166726337
(GRCh37)
- Canonical SPDI:
- NC_000002.12:165869822:TTTTTTTTTTTTTTTTTT:TTTT,NC_000002.12:165869822:TTTTTTTTTTTTTTTTTT:TTTTT,NC_000002.12:165869822:TTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000002.12:165869822:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:165869822:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:165869822:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:165869822:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:165869822:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:165869822:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:165869822:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:165869822:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:165869822:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:165869822:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:165869822:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:165869822:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:165869822:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:165869822:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:165869822:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LOC100506124 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000002.12:g.165869827_165869840del, NC_000002.12:g.165869828_165869840del, NC_000002.12:g.165869830_165869840del, NC_000002.12:g.165869834_165869840del, NC_000002.12:g.165869835_165869840del, NC_000002.12:g.165869836_165869840del, NC_000002.12:g.165869837_165869840del, NC_000002.12:g.165869838_165869840del, NC_000002.12:g.165869839_165869840del, NC_000002.12:g.165869840del, NC_000002.12:g.165869840dup, NC_000002.12:g.165869839_165869840dup, NC_000002.12:g.165869838_165869840dup, NC_000002.12:g.165869837_165869840dup, NC_000002.12:g.165869836_165869840dup, NC_000002.12:g.165869835_165869840dup, NC_000002.12:g.165869823_165869840T[25]GGTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.165869840_165869841insTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.166726337_166726350del, NC_000002.11:g.166726338_166726350del, NC_000002.11:g.166726340_166726350del, NC_000002.11:g.166726344_166726350del, NC_000002.11:g.166726345_166726350del, NC_000002.11:g.166726346_166726350del, NC_000002.11:g.166726347_166726350del, NC_000002.11:g.166726348_166726350del, NC_000002.11:g.166726349_166726350del, NC_000002.11:g.166726350del, NC_000002.11:g.166726350dup, NC_000002.11:g.166726349_166726350dup, NC_000002.11:g.166726348_166726350dup, NC_000002.11:g.166726347_166726350dup, NC_000002.11:g.166726346_166726350dup, NC_000002.11:g.166726345_166726350dup, NC_000002.11:g.166726333_166726350T[25]GGTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.166726350_166726351insTTTTTTTTTTTTTTTTTTTTTT
7.
rs1491285359 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 2:165872752
(GRCh38)
2:166729263
(GRCh37)
- Canonical SPDI:
- NC_000002.12:165872752:T:TT
- Gene:
- LOC100506124 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000023/6
(TOPMED)
- HGVS:
9.
rs1491186076 has merged into rs59383867 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 2:165865179
(GRCh38)
2:166721689
(GRCh37)
- Canonical SPDI:
- NC_000002.12:165865166:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:165865166:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:165865166:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:165865166:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:165865166:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:165865166:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:165865166:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:165865166:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:165865166:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:165865166:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:165865166:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:165865166:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:165865166:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:165865166:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:165865166:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:165865166:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:165865166:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:165865166:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:165865166:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:165865166:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:165865166:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:165865166:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:165865166:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LOC100506124 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTT=0./0
(
ALFA)
-=0.1388/535
(ALSPAC)
-=0.1462/542
(TWINSUK)
TT=0.175/7
(GENOME_DK)
- HGVS:
NC_000002.12:g.165865179_165865192del, NC_000002.12:g.165865180_165865192del, NC_000002.12:g.165865181_165865192del, NC_000002.12:g.165865182_165865192del, NC_000002.12:g.165865183_165865192del, NC_000002.12:g.165865184_165865192del, NC_000002.12:g.165865185_165865192del, NC_000002.12:g.165865186_165865192del, NC_000002.12:g.165865187_165865192del, NC_000002.12:g.165865188_165865192del, NC_000002.12:g.165865189_165865192del, NC_000002.12:g.165865190_165865192del, NC_000002.12:g.165865191_165865192del, NC_000002.12:g.165865192del, NC_000002.12:g.165865192dup, NC_000002.12:g.165865191_165865192dup, NC_000002.12:g.165865190_165865192dup, NC_000002.12:g.165865189_165865192dup, NC_000002.12:g.165865188_165865192dup, NC_000002.12:g.165865187_165865192dup, NC_000002.12:g.165865186_165865192dup, NC_000002.12:g.165865185_165865192dup, NC_000002.12:g.165865183_165865192dup, NC_000002.11:g.166721689_166721702del, NC_000002.11:g.166721690_166721702del, NC_000002.11:g.166721691_166721702del, NC_000002.11:g.166721692_166721702del, NC_000002.11:g.166721693_166721702del, NC_000002.11:g.166721694_166721702del, NC_000002.11:g.166721695_166721702del, NC_000002.11:g.166721696_166721702del, NC_000002.11:g.166721697_166721702del, NC_000002.11:g.166721698_166721702del, NC_000002.11:g.166721699_166721702del, NC_000002.11:g.166721700_166721702del, NC_000002.11:g.166721701_166721702del, NC_000002.11:g.166721702del, NC_000002.11:g.166721702dup, NC_000002.11:g.166721701_166721702dup, NC_000002.11:g.166721700_166721702dup, NC_000002.11:g.166721699_166721702dup, NC_000002.11:g.166721698_166721702dup, NC_000002.11:g.166721697_166721702dup, NC_000002.11:g.166721696_166721702dup, NC_000002.11:g.166721695_166721702dup, NC_000002.11:g.166721693_166721702dup
10.
rs1490893068 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:165861317
(GRCh38)
2:166717827
(GRCh37)
- Canonical SPDI:
- NC_000002.12:165861316:G:A
- Gene:
- LOC100506124 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
11.
rs1490493814 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 2:165869604
(GRCh38)
2:166726114
(GRCh37)
- Canonical SPDI:
- NC_000002.12:165869599:ATATAT:ATAT
- Gene:
- LOC100506124 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
ATAT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
12.
rs1490489110 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 2:165872199
(GRCh38)
2:166728709
(GRCh37)
- Canonical SPDI:
- NC_000002.12:165872198:C:A,NC_000002.12:165872198:C:G
- Gene:
- LOC100506124 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
A=0.001092/2
(Korea1K)
- HGVS:
13.
rs1490472564 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 2:165870238
(GRCh38)
2:166726748
(GRCh37)
- Canonical SPDI:
- NC_000002.12:165870237:CA:
- Gene:
- LOC100506124 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
14.
rs1490308326 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 2:165870667
(GRCh38)
2:166727177
(GRCh37)
- Canonical SPDI:
- NC_000002.12:165870666:C:A
- Gene:
- LOC100506124 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS:
15.
rs1490100001 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:165862890
(GRCh38)
2:166719400
(GRCh37)
- Canonical SPDI:
- NC_000002.12:165862889:T:C
- Gene:
- LOC100506124 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
16.
rs1490055279 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 2:165870827
(GRCh38)
2:166727337
(GRCh37)
- Canonical SPDI:
- NC_000002.12:165870826:A:T
- Gene:
- LOC100506124 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000224/1
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000223/1
(Estonian)
- HGVS:
17.
rs1489572170 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 2:165868173
(GRCh38)
2:166724683
(GRCh37)
- Canonical SPDI:
- NC_000002.12:165868171:TTT:T
- Gene:
- LOC100506124 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
-=0.000021/3
(GnomAD)
-=0.000023/6
(TOPMED)
- HGVS:
18.
rs1489337129 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:165871883
(GRCh38)
2:166728393
(GRCh37)
- Canonical SPDI:
- NC_000002.12:165871882:T:C
- Gene:
- LOC100506124 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
19.
rs1489307179 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:165860382
(GRCh38)
2:166716892
(GRCh37)
- Canonical SPDI:
- NC_000002.12:165860381:A:G
- Gene:
- LOC100506124 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
20.
rs1489134820 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 2:165871774
(GRCh38)
2:166728284
(GRCh37)
- Canonical SPDI:
- NC_000002.12:165871773:T:C,NC_000002.12:165871773:T:G
- Gene:
- LOC100506124 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
G=0.000248/4
(TOMMO)
G=0.001027/3
(KOREAN)
- HGVS: