Links from Gene
Items: 1 to 20 of 145454
1.
rs1491584257 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CC>-
[Show Flanks]
- Chromosome:
- 10:1326825
(GRCh38)
10:1369020
(GRCh37)
- Canonical SPDI:
- NC_000010.11:1326823:CCC:C
- Gene:
- ADARB2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.000109/12
(GnomAD)
-=0.000143/4
(TOMMO)
- HGVS:
3.
rs1491569291 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C,CG
[Show Flanks]
- Chromosome:
- 10:1640650
(GRCh38)
10:1682846
(GRCh37)
- Canonical SPDI:
- NC_000010.11:1640650::C,NC_000010.11:1640650::CG
- Gene:
- ADARB2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000066/1
(
ALFA)
C=0.002249/314
(GnomAD)
C=0.002342/15
(1000Genomes)
- HGVS:
4.
rs1491562497 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 10:1514197
(GRCh38)
10:1556392
(GRCh37)
- Canonical SPDI:
- NC_000010.11:1514195:TGT:T
- Gene:
- ADARB2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
-=0.000024/3
(GnomAD)
- HGVS:
6.
rs1491553152 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 10:1329954
(GRCh38)
10:1372150
(GRCh37)
- Canonical SPDI:
- NC_000010.11:1329954:C:CC
- Gene:
- ADARB2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0./0
(
ALFA)
C=0.000035/1
(TOMMO)
C=0.000057/6
(GnomAD)
- HGVS:
8.
rs1491528126 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GG>-,GGG
[Show Flanks]
- Chromosome:
- 10:1293067
(GRCh38)
10:1335262
(GRCh37)
- Canonical SPDI:
- NC_000010.11:1293062:GGGGGG:GGGG,NC_000010.11:1293062:GGGGGG:GGGGGGG
- Gene:
- ADARB2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGGGGG=0./0
(
ALFA)
G=0.00016/11
(GnomAD)
- HGVS:
9.
rs1491524141 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TC>-
[Show Flanks]
- Chromosome:
- 10:1286200
(GRCh38)
10:1328395
(GRCh37)
- Canonical SPDI:
- NC_000010.11:1286196:CTCTC:CTC
- Gene:
- ADARB2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CTC=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS:
11.
rs1491509741 has merged into rs200797624 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTCTTTCT>-,TTCT,TTCTTTCTTTCT
[Show Flanks]
- Chromosome:
- 10:1510071
(GRCh38)
10:1552266
(GRCh37)
- Canonical SPDI:
- NC_000010.11:1510063:TCTTTCTTTCTTTCT:TCTTTCT,NC_000010.11:1510063:TCTTTCTTTCTTTCT:TCTTTCTTTCT,NC_000010.11:1510063:TCTTTCTTTCTTTCT:TCTTTCTTTCTTTCTTTCT
- Gene:
- ADARB2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCTTTCTTTCT=0./0
(
ALFA)
TCTT=0.000008/2
(TOPMED)
-=0.000546/1
(Korea1K)
- HGVS:
13.
rs1491506091 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AGGGAGAGAGGGAC,AGGGAGGGAGAGAGGGACAGGGAGAGAGGGAC
[Show Flanks]
- Chromosome:
- 10:1293230
(GRCh38)
10:1335426
(GRCh37)
- Canonical SPDI:
- NC_000010.11:1293230:AGGGAGAGAGGGAC:AGGGAGAGAGGGACAGGGAGAGAGGGAC,NC_000010.11:1293230:AGGGAGAGAGGGAC:AGGGAGAGAGGGACAGGGAGGGAGAGAGGGACAGGGAGAGAGGGAC
- Gene:
- ADARB2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGGGAGAGAGGGACAGGGAGGGAGAGAGGGACAGGGAGAGAGGGAC=0./0
(
ALFA)
- HGVS:
14.
rs1491505089 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->TG
[Show Flanks]
- Chromosome:
- 10:1375981
(GRCh38)
10:1418177
(GRCh37)
- Canonical SPDI:
- NC_000010.11:1375981::TG
- Gene:
- ADARB2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TG=0.000122/2
(
ALFA)
TG=0.000011/3
(TOPMED)
TG=0.000022/3
(GnomAD)
- HGVS:
15.
rs1491502624 has merged into rs1554770300 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACA
[Show Flanks]
- Chromosome:
- 10:1544976
(GRCh38)
10:1587171
(GRCh37)
- Canonical SPDI:
- NC_000010.11:1544956:ACACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000010.11:1544956:ACACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000010.11:1544956:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000010.11:1544956:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000010.11:1544956:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000010.11:1544956:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000010.11:1544956:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000010.11:1544956:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000010.11:1544956:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000010.11:1544956:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000010.11:1544956:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000010.11:1544956:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA,NC_000010.11:1544956:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA,NC_000010.11:1544956:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA,NC_000010.11:1544956:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000010.11:1544956:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000010.11:1544956:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000010.11:1544956:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000010.11:1544956:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000010.11:1544956:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000010.11:1544956:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000010.11:1544956:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000010.11:1544956:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000010.11:1544956:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
- Gene:
- ADARB2 (Varview), ADARB2-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACACACACACA=0./0
(
ALFA)
ACACACACACACACACAC=0.151/560
(TWINSUK)
ACACACACACACACACAC=0.1572/606
(ALSPAC)
- HGVS:
NC_000010.11:g.1544958CA[9], NC_000010.11:g.1544958CA[10], NC_000010.11:g.1544958CA[11], NC_000010.11:g.1544958CA[12], NC_000010.11:g.1544958CA[13], NC_000010.11:g.1544958CA[15], NC_000010.11:g.1544958CA[16], NC_000010.11:g.1544958CA[17], NC_000010.11:g.1544958CA[18], NC_000010.11:g.1544958CA[19], NC_000010.11:g.1544958CA[20], NC_000010.11:g.1544958CA[21], NC_000010.11:g.1544958CA[22], NC_000010.11:g.1544958CA[23], NC_000010.11:g.1544958CA[24], NC_000010.11:g.1544958CA[25], NC_000010.11:g.1544958CA[26], NC_000010.11:g.1544958CA[27], NC_000010.11:g.1544958CA[28], NC_000010.11:g.1544958CA[29], NC_000010.11:g.1544958CA[30], NC_000010.11:g.1544958CA[31], NC_000010.11:g.1544958CA[32], NC_000010.11:g.1544958CA[34], NC_000010.10:g.1587153CA[9], NC_000010.10:g.1587153CA[10], NC_000010.10:g.1587153CA[11], NC_000010.10:g.1587153CA[12], NC_000010.10:g.1587153CA[13], NC_000010.10:g.1587153CA[15], NC_000010.10:g.1587153CA[16], NC_000010.10:g.1587153CA[17], NC_000010.10:g.1587153CA[18], NC_000010.10:g.1587153CA[19], NC_000010.10:g.1587153CA[20], NC_000010.10:g.1587153CA[21], NC_000010.10:g.1587153CA[22], NC_000010.10:g.1587153CA[23], NC_000010.10:g.1587153CA[24], NC_000010.10:g.1587153CA[25], NC_000010.10:g.1587153CA[26], NC_000010.10:g.1587153CA[27], NC_000010.10:g.1587153CA[28], NC_000010.10:g.1587153CA[29], NC_000010.10:g.1587153CA[30], NC_000010.10:g.1587153CA[31], NC_000010.10:g.1587153CA[32], NC_000010.10:g.1587153CA[34]
16.
rs1491498311 has merged into rs113613762 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AC>-,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC
[Show Flanks]
- Chromosome:
- 10:1591657
(GRCh38)
10:1633852
(GRCh37)
- Canonical SPDI:
- NC_000010.11:1591655:CAC:C,NC_000010.11:1591655:CAC:CACAC,NC_000010.11:1591655:CAC:CACACAC,NC_000010.11:1591655:CAC:CACACACAC,NC_000010.11:1591655:CAC:CACACACACAC,NC_000010.11:1591655:CAC:CACACACACACAC,NC_000010.11:1591655:CAC:CACACACACACACAC
- Gene:
- ADARB2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CACACAC=0./0
(
ALFA)
CACA=0.2027/1015
(1000Genomes)
- HGVS:
NC_000010.11:g.1591657_1591658del, NC_000010.11:g.1591657_1591658dup, NC_000010.11:g.1591657AC[3], NC_000010.11:g.1591657AC[4], NC_000010.11:g.1591657AC[5], NC_000010.11:g.1591657AC[6], NC_000010.11:g.1591657AC[7], NC_000010.10:g.1633852_1633853del, NC_000010.10:g.1633852_1633853dup, NC_000010.10:g.1633852AC[3], NC_000010.10:g.1633852AC[4], NC_000010.10:g.1633852AC[5], NC_000010.10:g.1633852AC[6], NC_000010.10:g.1633852AC[7]
17.
rs1491490324 has merged into rs1026242174 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ACAC>-,AC
[Show Flanks]
- Chromosome:
- 10:1375944
(GRCh38)
10:1418139
(GRCh37)
- Canonical SPDI:
- NC_000010.11:1375939:ACACACAC:ACAC,NC_000010.11:1375939:ACACACAC:ACACAC
- Gene:
- ADARB2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACAC=0./0
(
ALFA)
-=0.00004/1
(TOMMO)
- HGVS:
18.
rs1491487496 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GTTT
[Show Flanks]
- Chromosome:
- 10:1332482
(GRCh38)
10:1374678
(GRCh37)
- Canonical SPDI:
- NC_000010.11:1332482:TTT:TTTGTTT
- Gene:
- ADARB2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TTTGTTT=0./0
(
ALFA)
TTTG=0.000008/2
(TOPMED)
- HGVS:
19.
rs1491480396 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 10:1684335
(GRCh38)
10:1726529
(GRCh37)
- Canonical SPDI:
- NC_000010.11:1684334:CT:
- Gene:
- ADARB2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
20.
rs1491471965 has merged into rs918855545 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TCTC>-,TC,TCTCTC
[Show Flanks]
- Chromosome:
- 10:1510058
(GRCh38)
10:1552253
(GRCh37)
- Canonical SPDI:
- NC_000010.11:1510049:TCTCTCTCTCTC:TCTCTCTC,NC_000010.11:1510049:TCTCTCTCTCTC:TCTCTCTCTC,NC_000010.11:1510049:TCTCTCTCTCTC:TCTCTCTCTCTCTC
- Gene:
- ADARB2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCTCTCTCTC=0./0
(
ALFA)
-=0.00164/3
(Korea1K)
- HGVS: