Links from Gene
Items: 1 to 20 of 10659
1.
rs1491569278 has merged into rs1266181933 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,TT,TTTTT
[Show Flanks]
- Chromosome:
- 4:4402591
(GRCh38)
4:4404318
(GRCh37)
- Canonical SPDI:
- NC_000004.12:4402588:TTTTTT:TT,NC_000004.12:4402588:TTTTTT:TTTT,NC_000004.12:4402588:TTTTTT:TTTTTTT
- Gene:
- NSG1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTT=0./0
(
ALFA)
-=0.00006/1
(TOMMO)
- HGVS:
2.
rs1491526648 has merged into rs34985950 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT
[Show Flanks]
- Chromosome:
- 4:4385333
(GRCh38)
4:4387060
(GRCh37)
- Canonical SPDI:
- NC_000004.12:4385331:TTT:T,NC_000004.12:4385331:TTT:TT,NC_000004.12:4385331:TTT:TTTT
- Gene:
- NSG1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.12266/1455
(
ALFA)
-=0.025/1
(GENOME_DK)
-=0.09699/58
(NorthernSweden)
-=0.14605/2422
(TOMMO)
-=0.19893/17605
(GnomAD)
-=0.20307/753
(TWINSUK)
-=0.21069/812
(ALSPAC)
- HGVS:
3.
rs1491470812 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 4:4384079
(GRCh38)
4:4385806
(GRCh37)
- Canonical SPDI:
- NC_000004.12:4384076:AGAG:AG
- Gene:
- LOC112268462 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGAG=0.000169/2
(
ALFA)
-=0.000193/27
(GnomAD)
- HGVS:
5.
rs1491413787 has merged into rs1364234997 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CC>-,C
[Show Flanks]
- Chromosome:
- 4:4384057
(GRCh38)
4:4385784
(GRCh37)
- Canonical SPDI:
- NC_000004.12:4384055:CCC:C,NC_000004.12:4384055:CCC:CC
- Gene:
- LOC112268462 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
-=0.00012/11
(GnomAD)
-=0.00117/33
(TOMMO)
- HGVS:
7.
rs1491339635 has merged into rs1269017502 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGT>-,GT,GTGTGT
[Show Flanks]
- Chromosome:
- 4:4385349
(GRCh38)
4:4387076
(GRCh37)
- Canonical SPDI:
- NC_000004.12:4385344:GTGTGTGT:GTGT,NC_000004.12:4385344:GTGTGTGT:GTGTGT,NC_000004.12:4385344:GTGTGTGT:GTGTGTGTGT
- Gene:
- NSG1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTGT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
GT=0.00085/14
(TOMMO)
- HGVS:
8.
rs1491310539 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->GGC
[Show Flanks]
- Chromosome:
- 4:4385345
(GRCh38)
4:4387073
(GRCh37)
- Canonical SPDI:
- NC_000004.12:4385345::GGC
- Gene:
- NSG1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
GGC=0./0
(
ALFA)
GGC=0.000008/1
(GnomAD)
- HGVS:
9.
rs1491282009 has merged into rs35299425 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 4:4402057
(GRCh38)
4:4403784
(GRCh37)
- Canonical SPDI:
- NC_000004.12:4402047:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000004.12:4402047:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:4402047:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:4402047:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:4402047:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:4402047:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:4402047:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:4402047:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:4402047:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:4402047:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:4402047:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:4402047:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:4402047:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:4402047:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:4402047:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:4402047:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:4402047:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:4402047:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- NSG1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
TT=0.1893/948
(1000Genomes)
- HGVS:
NC_000004.12:g.4402057_4402068del, NC_000004.12:g.4402059_4402068del, NC_000004.12:g.4402060_4402068del, NC_000004.12:g.4402061_4402068del, NC_000004.12:g.4402062_4402068del, NC_000004.12:g.4402063_4402068del, NC_000004.12:g.4402064_4402068del, NC_000004.12:g.4402065_4402068del, NC_000004.12:g.4402066_4402068del, NC_000004.12:g.4402067_4402068del, NC_000004.12:g.4402068del, NC_000004.12:g.4402068dup, NC_000004.12:g.4402067_4402068dup, NC_000004.12:g.4402066_4402068dup, NC_000004.12:g.4402065_4402068dup, NC_000004.12:g.4402063_4402068dup, NC_000004.12:g.4402061_4402068dup, NC_000004.12:g.4402059_4402068dup, NC_000004.11:g.4403784_4403795del, NC_000004.11:g.4403786_4403795del, NC_000004.11:g.4403787_4403795del, NC_000004.11:g.4403788_4403795del, NC_000004.11:g.4403789_4403795del, NC_000004.11:g.4403790_4403795del, NC_000004.11:g.4403791_4403795del, NC_000004.11:g.4403792_4403795del, NC_000004.11:g.4403793_4403795del, NC_000004.11:g.4403794_4403795del, NC_000004.11:g.4403795del, NC_000004.11:g.4403795dup, NC_000004.11:g.4403794_4403795dup, NC_000004.11:g.4403793_4403795dup, NC_000004.11:g.4403792_4403795dup, NC_000004.11:g.4403790_4403795dup, NC_000004.11:g.4403788_4403795dup, NC_000004.11:g.4403786_4403795dup
10.
rs1491253266 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C,CAAAAC,CAACACAAAAC,CAACACAACACAAAAC,CAACACAACACAACACAAAAC,CAACACAACACAACACAAAACAAAAC,CAACACAACACAACACAACACAAAAC,CAACACAACACAACACAACACAAAACAAAAC,CAACACAACACAACACAACACAACACAAAAC,CAACACAACACAACACAACACAACACAAAACAAAAC,CAACACAACACAACACAACACAACACAAAGCAAAAC,CAACACAACACAACACAACACAACACAACAC,CAACACAACACAACACAACACAACACAACACAAAAC,CAACACAACACAACACAACACAACACAACACAAAACAAAAC,CAACACAACACAACACAACACAACACAACACAACACAAAAC,CAACACAACACAACACAACACAACACAACACACAAC,CAACACAACACAACACAACACAACACACAAC,CAACACAACACAACACAACACACAAC,CAACACAACACAACACACAAC
[Show Flanks]
- Chromosome:
- 4:4411784
(GRCh38)
4:4413512
(GRCh37)
- Canonical SPDI:
- NC_000004.12:4411784::C,NC_000004.12:4411784::CAAAAC,NC_000004.12:4411784::CAACACAAAAC,NC_000004.12:4411784::CAACACAACACAAAAC,NC_000004.12:4411784::CAACACAACACAACACAAAAC,NC_000004.12:4411784::CAACACAACACAACACAAAACAAAAC,NC_000004.12:4411784::CAACACAACACAACACAACACAAAAC,NC_000004.12:4411784::CAACACAACACAACACAACACAAAACAAAAC,NC_000004.12:4411784::CAACACAACACAACACAACACAACACAAAAC,NC_000004.12:4411784::CAACACAACACAACACAACACAACACAAAACAAAAC,NC_000004.12:4411784::CAACACAACACAACACAACACAACACAAAGCAAAAC,NC_000004.12:4411784::CAACACAACACAACACAACACAACACAACAC,NC_000004.12:4411784::CAACACAACACAACACAACACAACACAACACAAAAC,NC_000004.12:4411784::CAACACAACACAACACAACACAACACAACACAAAACAAAAC,NC_000004.12:4411784::CAACACAACACAACACAACACAACACAACACAACACAAAAC,NC_000004.12:4411784::CAACACAACACAACACAACACAACACAACACACAAC,NC_000004.12:4411784::CAACACAACACAACACAACACAACACACAAC,NC_000004.12:4411784::CAACACAACACAACACAACACACAAC,NC_000004.12:4411784::CAACACAACACAACACACAAC
- Gene:
- NSG1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CAACACAAAAC=0./0
(
ALFA)
C=0.00156/10
(1000Genomes)
C=0.00361/316
(GnomAD)
- HGVS:
NC_000004.12:g.4411784_4411785insC, NC_000004.12:g.4411784_4411785insCAAAAC, NC_000004.12:g.4411784_4411785insCAACACAAAAC, NC_000004.12:g.4411784_4411785insCAACACAACACAAAAC, NC_000004.12:g.4411784_4411785insCAACACAACACAACACAAAAC, NC_000004.12:g.4411784_4411785insCAACACAACACAACACAAAACAAAAC, NC_000004.12:g.4411784_4411785insCAACACAACACAACACAACACAAAAC, NC_000004.12:g.4411784_4411785insCAACACAACACAACACAACACAAAACAAAAC, NC_000004.12:g.4411784_4411785insCAACACAACACAACACAACACAACACAAAAC, NC_000004.12:g.4411784_4411785insCAACACAACACAACACAACACAACACAAAACAAAAC, NC_000004.12:g.4411784_4411785insCAACACAACACAACACAACACAACACAAAGCAAAAC, NC_000004.12:g.4411784_4411785insCAACACAACACAACACAACACAACACAACAC, NC_000004.12:g.4411784_4411785insCAACACAACACAACACAACACAACACAACACAAAAC, NC_000004.12:g.4411784_4411785insCAACACAACACAACACAACACAACACAACACAAAACAAAAC, NC_000004.12:g.4411784_4411785insCAACACAACACAACACAACACAACACAACACAACACAAAAC, NC_000004.12:g.4411784_4411785insCAACACAACACAACACAACACAACACAACACACAAC, NC_000004.12:g.4411784_4411785insCAACACAACACAACACAACACAACACACAAC, NC_000004.12:g.4411784_4411785insCAACACAACACAACACAACACACAAC, NC_000004.12:g.4411784_4411785insCAACACAACACAACACACAAC, NC_000004.11:g.4413511_4413512insC, NC_000004.11:g.4413511_4413512insCAAAAC, NC_000004.11:g.4413511_4413512insCAACACAAAAC, NC_000004.11:g.4413511_4413512insCAACACAACACAAAAC, NC_000004.11:g.4413511_4413512insCAACACAACACAACACAAAAC, NC_000004.11:g.4413511_4413512insCAACACAACACAACACAAAACAAAAC, NC_000004.11:g.4413511_4413512insCAACACAACACAACACAACACAAAAC, NC_000004.11:g.4413511_4413512insCAACACAACACAACACAACACAAAACAAAAC, NC_000004.11:g.4413511_4413512insCAACACAACACAACACAACACAACACAAAAC, NC_000004.11:g.4413511_4413512insCAACACAACACAACACAACACAACACAAAACAAAAC, NC_000004.11:g.4413511_4413512insCAACACAACACAACACAACACAACACAAAGCAAAAC, NC_000004.11:g.4413511_4413512insCAACACAACACAACACAACACAACACAACAC, NC_000004.11:g.4413511_4413512insCAACACAACACAACACAACACAACACAACACAAAAC, NC_000004.11:g.4413511_4413512insCAACACAACACAACACAACACAACACAACACAAAACAAAAC, NC_000004.11:g.4413511_4413512insCAACACAACACAACACAACACAACACAACACAACACAAAAC, NC_000004.11:g.4413511_4413512insCAACACAACACAACACAACACAACACAACACACAAC, NC_000004.11:g.4413511_4413512insCAACACAACACAACACAACACAACACACAAC, NC_000004.11:g.4413511_4413512insCAACACAACACAACACAACACACAAC, NC_000004.11:g.4413511_4413512insCAACACAACACAACACACAAC
11.
rs1491178938 has merged into rs377675737 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA
[Show Flanks]
- Chromosome:
- 4:4411785
(GRCh38)
4:4413512
(GRCh37)
- Canonical SPDI:
- NC_000004.12:4411783:AAAA:A,NC_000004.12:4411783:AAAA:AA,NC_000004.12:4411783:AAAA:AAA
- Gene:
- NSG1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0.00431/16
(TWINSUK)
- HGVS:
12.
rs1491143066 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 4:4419407
(GRCh38)
4:4421134
(GRCh37)
- Canonical SPDI:
- NC_000004.12:4419406:CT:
- Gene:
- NSG1 (Varview), STX18 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,500B_downstream_variant,non_coding_transcript_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000054/1
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
-=0.000223/1
(Estonian)
- HGVS:
NC_000004.12:g.4419407_4419408del, NC_000004.11:g.4421134_4421135del, NM_016930.4:c.*626_*627del, NM_016930.3:c.*626_*627del, NM_016930.2:c.*626_*627del, NM_001346281.2:c.*626_*627del, NM_001346281.1:c.*626_*627del, NR_144414.2:n.1659_1660del, NR_144414.1:n.1677_1678del, NM_001346282.2:c.*626_*627del, NM_001346282.1:c.*626_*627del, NM_001346300.2:c.*626_*627del, NM_001346300.1:c.*626_*627del
13.
rs1491051377 has merged into rs11370813 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 4:4381845
(GRCh38)
4:4383572
(GRCh37)
- Canonical SPDI:
- NC_000004.12:4381836:TTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000004.12:4381836:TTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000004.12:4381836:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000004.12:4381836:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:4381836:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:4381836:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:4381836:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:4381836:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:4381836:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:4381836:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:4381836:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:4381836:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:4381836:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT,NC_000004.12:4381836:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:4381836:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:4381836:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT,NC_000004.12:4381836:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:4381836:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:4381836:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:4381836:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:4381836:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:4381836:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:4381836:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:4381836:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:4381836:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:4381836:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:4381836:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:4381836:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:4381836:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:4381836:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:4381836:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:4381836:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:4381836:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:4381836:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:4381836:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:4381836:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:4381836:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LOC112268462 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTT=0./0
(
ALFA)
T=0.3095/1550
(1000Genomes)
-=0.5/4
(KOREAN)
- HGVS:
NC_000004.12:g.4381845_4381854del, NC_000004.12:g.4381846_4381854del, NC_000004.12:g.4381847_4381854del, NC_000004.12:g.4381848_4381854del, NC_000004.12:g.4381849_4381854del, NC_000004.12:g.4381850_4381854del, NC_000004.12:g.4381851_4381854del, NC_000004.12:g.4381852_4381854del, NC_000004.12:g.4381853_4381854del, NC_000004.12:g.4381854del, NC_000004.12:g.4381854dup, NC_000004.12:g.4381853_4381854dup, NC_000004.12:g.4381837_4381854T[20]CTTTTTTTTTTTTTTTTTTT[1], NC_000004.12:g.4381852_4381854dup, NC_000004.12:g.4381851_4381854dup, NC_000004.12:g.4381837_4381854T[22]CTTTTTTTTTTTTTTTTTTT[1], NC_000004.12:g.4381850_4381854dup, NC_000004.12:g.4381849_4381854dup, NC_000004.12:g.4381848_4381854dup, NC_000004.12:g.4381847_4381854dup, NC_000004.12:g.4381846_4381854dup, NC_000004.12:g.4381845_4381854dup, NC_000004.12:g.4381844_4381854dup, NC_000004.12:g.4381843_4381854dup, NC_000004.12:g.4381842_4381854dup, NC_000004.12:g.4381841_4381854dup, NC_000004.12:g.4381840_4381854dup, NC_000004.12:g.4381839_4381854dup, NC_000004.12:g.4381838_4381854dup, NC_000004.12:g.4381837_4381854dup, NC_000004.12:g.4381854_4381855insTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.4381854_4381855insTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.4381854_4381855insTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.4381854_4381855insTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.4381854_4381855insTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.4381854_4381855insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.4381854_4381855insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.4383572_4383581del, NC_000004.11:g.4383573_4383581del, NC_000004.11:g.4383574_4383581del, NC_000004.11:g.4383575_4383581del, NC_000004.11:g.4383576_4383581del, NC_000004.11:g.4383577_4383581del, NC_000004.11:g.4383578_4383581del, NC_000004.11:g.4383579_4383581del, NC_000004.11:g.4383580_4383581del, NC_000004.11:g.4383581del, NC_000004.11:g.4383581dup, NC_000004.11:g.4383580_4383581dup, NC_000004.11:g.4383564_4383581T[20]CTTTTTTTTTTTTTTTTTTT[1], NC_000004.11:g.4383579_4383581dup, NC_000004.11:g.4383578_4383581dup, NC_000004.11:g.4383564_4383581T[22]CTTTTTTTTTTTTTTTTTTT[1], NC_000004.11:g.4383577_4383581dup, NC_000004.11:g.4383576_4383581dup, NC_000004.11:g.4383575_4383581dup, NC_000004.11:g.4383574_4383581dup, NC_000004.11:g.4383573_4383581dup, NC_000004.11:g.4383572_4383581dup, NC_000004.11:g.4383571_4383581dup, NC_000004.11:g.4383570_4383581dup, NC_000004.11:g.4383569_4383581dup, NC_000004.11:g.4383568_4383581dup, NC_000004.11:g.4383567_4383581dup, NC_000004.11:g.4383566_4383581dup, NC_000004.11:g.4383565_4383581dup, NC_000004.11:g.4383564_4383581dup, NC_000004.11:g.4383581_4383582insTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.4383581_4383582insTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.4383581_4383582insTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.4383581_4383582insTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.4383581_4383582insTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.4383581_4383582insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.4383581_4383582insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
14.
rs1490985377 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:4404822
(GRCh38)
4:4406549
(GRCh37)
- Canonical SPDI:
- NC_000004.12:4404821:G:A
- Gene:
- NSG1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000071/1
(TOMMO)
- HGVS:
15.
rs1490844384 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:4405750
(GRCh38)
4:4407477
(GRCh37)
- Canonical SPDI:
- NC_000004.12:4405749:A:G
- Gene:
- NSG1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
16.
rs1490808619 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:4390689
(GRCh38)
4:4392416
(GRCh37)
- Canonical SPDI:
- NC_000004.12:4390688:C:T
- Gene:
- NSG1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
17.
rs1490798353 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 4:4417535
(GRCh38)
4:4419262
(GRCh37)
- Canonical SPDI:
- NC_000004.12:4417534:C:A,NC_000004.12:4417534:C:T
- Gene:
- NSG1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
NC_000004.12:g.4417535C>A, NC_000004.12:g.4417535C>T, NC_000004.11:g.4419262C>A, NC_000004.11:g.4419262C>T, NM_014392.5:c.*100C>A, NM_014392.5:c.*100C>T, NM_014392.4:c.*100C>A, NM_014392.4:c.*100C>T, NM_014392.3:c.*100C>A, NM_014392.3:c.*100C>T, NM_001287763.2:c.*100C>A, NM_001287763.2:c.*100C>T, NM_001287763.1:c.*100C>A, NM_001287763.1:c.*100C>T, NM_001040101.2:c.*100C>A, NM_001040101.2:c.*100C>T, NM_001040101.1:c.*100C>A, NM_001040101.1:c.*100C>T, NM_001287764.2:c.*100C>A, NM_001287764.2:c.*100C>T, NM_001287764.1:c.*100C>A, NM_001287764.1:c.*100C>T, NM_001382227.1:c.*100C>A, NM_001382227.1:c.*100C>T, NM_001382228.1:c.*100C>A, NM_001382228.1:c.*100C>T, NR_167932.1:n.756C>A, NR_167932.1:n.756C>T, NR_167933.1:n.702C>A, NR_167933.1:n.702C>T
18.
rs1490733960 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 4:4398709
(GRCh38)
4:4400436
(GRCh37)
- Canonical SPDI:
- NC_000004.12:4398708:G:T
- Gene:
- NSG1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0./0
(KOREAN)
T=0.000011/3
(TOPMED)
T=0.000177/3
(TOMMO)
T=0.000546/1
(Korea1K)
- HGVS:
19.
rs1490703184 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->TGTGTGT
[Show Flanks]
- Chromosome:
- 4:4397036
(GRCh38)
4:4398764
(GRCh37)
- Canonical SPDI:
- NC_000004.12:4397036::TGTGTGT
- Gene:
- NSG1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TGTGTGT=0./0
(
ALFA)
TGTGTGT=0.00005/2
(GnomAD)
- HGVS:
20.
rs1490664139 has merged into rs33966126 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGTGTGTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 4:4385309
(GRCh38)
4:4387036
(GRCh37)
- Canonical SPDI:
- NC_000004.12:4385296:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGT,NC_000004.12:4385296:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGT,NC_000004.12:4385296:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000004.12:4385296:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000004.12:4385296:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000004.12:4385296:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:4385296:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:4385296:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:4385296:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:4385296:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:4385296:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:4385296:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:4385296:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:4385296:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:4385296:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:4385296:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:4385296:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:4385296:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:4385296:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- NSG1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000004.12:g.4385297GT[6], NC_000004.12:g.4385297GT[7], NC_000004.12:g.4385297GT[8], NC_000004.12:g.4385297GT[9], NC_000004.12:g.4385297GT[10], NC_000004.12:g.4385297GT[11], NC_000004.12:g.4385297GT[12], NC_000004.12:g.4385297GT[13], NC_000004.12:g.4385297GT[14], NC_000004.12:g.4385297GT[15], NC_000004.12:g.4385297GT[16], NC_000004.12:g.4385297GT[17], NC_000004.12:g.4385297GT[19], NC_000004.12:g.4385297GT[20], NC_000004.12:g.4385297GT[21], NC_000004.12:g.4385297GT[22], NC_000004.12:g.4385297GT[23], NC_000004.12:g.4385297GT[24], NC_000004.12:g.4385297GT[25], NC_000004.11:g.4387024GT[6], NC_000004.11:g.4387024GT[7], NC_000004.11:g.4387024GT[8], NC_000004.11:g.4387024GT[9], NC_000004.11:g.4387024GT[10], NC_000004.11:g.4387024GT[11], NC_000004.11:g.4387024GT[12], NC_000004.11:g.4387024GT[13], NC_000004.11:g.4387024GT[14], NC_000004.11:g.4387024GT[15], NC_000004.11:g.4387024GT[16], NC_000004.11:g.4387024GT[17], NC_000004.11:g.4387024GT[19], NC_000004.11:g.4387024GT[20], NC_000004.11:g.4387024GT[21], NC_000004.11:g.4387024GT[22], NC_000004.11:g.4387024GT[23], NC_000004.11:g.4387024GT[24], NC_000004.11:g.4387024GT[25]