Links from Nucleotide
Items: 1 to 20 of 3446
2.
rs1491300453 has merged into rs1192532487 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAA>-,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 3:184099732
(GRCh38)
3:183817520
(GRCh37)
- Canonical SPDI:
- NC_000003.12:184099720:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:184099720:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:184099720:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:184099720:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:184099720:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:184099720:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:184099720:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:184099720:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:184099720:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:184099720:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:184099720:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:184099720:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:184099720:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:184099720:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:184099720:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- HTR3E (Varview), HTR3E-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
NC_000003.12:g.184099732_184099740del, NC_000003.12:g.184099739_184099740del, NC_000003.12:g.184099740del, NC_000003.12:g.184099740dup, NC_000003.12:g.184099739_184099740dup, NC_000003.12:g.184099738_184099740dup, NC_000003.12:g.184099737_184099740dup, NC_000003.12:g.184099736_184099740dup, NC_000003.12:g.184099735_184099740dup, NC_000003.12:g.184099734_184099740dup, NC_000003.12:g.184099733_184099740dup, NC_000003.12:g.184099732_184099740dup, NC_000003.12:g.184099731_184099740dup, NC_000003.12:g.184099730_184099740dup, NC_000003.12:g.184099729_184099740dup, NC_000003.11:g.183817520_183817528del, NC_000003.11:g.183817527_183817528del, NC_000003.11:g.183817528del, NC_000003.11:g.183817528dup, NC_000003.11:g.183817527_183817528dup, NC_000003.11:g.183817526_183817528dup, NC_000003.11:g.183817525_183817528dup, NC_000003.11:g.183817524_183817528dup, NC_000003.11:g.183817523_183817528dup, NC_000003.11:g.183817522_183817528dup, NC_000003.11:g.183817521_183817528dup, NC_000003.11:g.183817520_183817528dup, NC_000003.11:g.183817519_183817528dup, NC_000003.11:g.183817518_183817528dup, NC_000003.11:g.183817517_183817528dup, NG_012452.1:g.4554_4562del, NG_012452.1:g.4561_4562del, NG_012452.1:g.4562del, NG_012452.1:g.4562dup, NG_012452.1:g.4561_4562dup, NG_012452.1:g.4560_4562dup, NG_012452.1:g.4559_4562dup, NG_012452.1:g.4558_4562dup, NG_012452.1:g.4557_4562dup, NG_012452.1:g.4556_4562dup, NG_012452.1:g.4555_4562dup, NG_012452.1:g.4554_4562dup, NG_012452.1:g.4553_4562dup, NG_012452.1:g.4552_4562dup, NG_012452.1:g.4551_4562dup
3.
rs1491145164 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 3:184104716
(GRCh38)
3:183822504
(GRCh37)
- Canonical SPDI:
- NC_000003.12:184104715:CA:
- Gene:
- HTR3E (Varview), HTR3E-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.00021/4
(TOMMO)
- HGVS:
4.
rs1491081765 has merged into rs35004235 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA,AAAA
[Show Flanks]
- Chromosome:
- 3:184096946
(GRCh38)
3:183814734
(GRCh37)
- Canonical SPDI:
- NC_000003.12:184096934:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:184096934:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:184096934:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:184096934:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA
- Gene:
- HTR3E (Varview), HTR3E-AS1 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAA=0./0
(
ALFA)
A=0.3539/1667
(1000Genomes)
- HGVS:
NC_000003.12:g.184096946_184096947del, NC_000003.12:g.184096947del, NC_000003.12:g.184096947dup, NC_000003.12:g.184096946_184096947dup, NC_000003.11:g.183814734_183814735del, NC_000003.11:g.183814735del, NC_000003.11:g.183814735dup, NC_000003.11:g.183814734_183814735dup, NG_012452.1:g.1768_1769del, NG_012452.1:g.1769del, NG_012452.1:g.1769dup, NG_012452.1:g.1768_1769dup
5.
rs1490511746 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:184108806
(GRCh38)
3:183826594
(GRCh37)
- Canonical SPDI:
- NC_000003.12:184108805:C:T
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS:
6.
rs1490341972 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:184108234
(GRCh38)
3:183826022
(GRCh37)
- Canonical SPDI:
- NC_000003.12:184108233: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.
rs1490106060 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 3:184100684
(GRCh38)
3:183818472
(GRCh37)
- Canonical SPDI:
- NC_000003.12:184100683:T:
- Gene:
- HTR3E (Varview), HTR3E-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
8.
rs1489992731 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,T
[Show Flanks]
- Chromosome:
- 3:184099727
(GRCh38)
3:183817515
(GRCh37)
- Canonical SPDI:
- NC_000003.12:184099726:A:C,NC_000003.12:184099726:A:T
- Gene:
- HTR3E (Varview), HTR3E-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000008/1
(GnomAD)
- HGVS:
9.
rs1489239880 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 3:184106332
(GRCh38)
3:183824120
(GRCh37)
- Canonical SPDI:
- NC_000003.12:184106331:C:A
- Gene:
- HTR3E (Varview), HTR3E-AS1 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000003.12:g.184106332C>A, NC_000003.11:g.183824120C>A, NG_012452.1:g.11154C>A, NM_198313.3:c.1085C>A, NM_198313.2:c.1085C>A, NM_001256613.2:c.1130C>A, NM_001256613.1:c.1130C>A, NM_182589.2:c.1175C>A, NM_198314.2:c.1130C>A, NM_001256614.1:c.1208C>A, NP_938055.1:p.Thr362Asn, NP_001243542.1:p.Thr377Asn, NP_872395.2:p.Thr392Asn, NP_938056.1:p.Thr377Asn, NP_001243543.1:p.Thr403Asn
10.
rs1489179546 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 3:184108658
(GRCh38)
3:183826446
(GRCh37)
- Canonical SPDI:
- NC_000003.12:184108657:T:C
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
11.
rs1489166262 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:184107366
(GRCh38)
3:183825154
(GRCh37)
- Canonical SPDI:
- NC_000003.12:184107365:G:A
- Gene:
- HTR3E (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000142/2
(
ALFA)
A=0.000035/1
(TOMMO)
A=0.000036/5
(GnomAD)
A=0.000045/12
(TOPMED)
- HGVS:
12.
rs1488794782 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 3:184102078
(GRCh38)
3:183819866
(GRCh37)
- Canonical SPDI:
- NC_000003.12:184102077:T:C
- Gene:
- HTR3E (Varview), HTR3E-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000015/4
(TOPMED)
C=0.000021/3
(GnomAD)
- HGVS:
13.
rs1488744082 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 3:184103132
(GRCh38)
3:183820920
(GRCh37)
- Canonical SPDI:
- NC_000003.12:184103131:G:C
- Gene:
- HTR3E (Varview), HTR3E-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000342/1
(KOREAN)
- HGVS:
14.
rs1488711946 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CC
[Show Flanks]
- Chromosome:
- 3:184097492
(GRCh38)
3:183815281
(GRCh37)
- Canonical SPDI:
- NC_000003.12:184097492:CCC:CCCCC
- Gene:
- HTR3E (Varview), HTR3E-AS1 (Varview)
- Functional Consequence:
- intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
- Validated:
- by frequency
- MAF:
CC=0.000007/1
(GnomAD_exomes)
- HGVS:
15.
rs1488673542 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:184107471
(GRCh38)
3:183825259
(GRCh37)
- Canonical SPDI:
- NC_000003.12:184107470:C:T
- Gene:
- HTR3E (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000029/4
(GnomAD)
- HGVS:
16.
rs1488402213 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 3:184095250
(GRCh38)
3:183813038
(GRCh37)
- Canonical SPDI:
- NC_000003.12:184095249:T:C,NC_000003.12:184095249:T:G
- Gene:
- HTR3E (Varview), HTR3E-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.00003/8
(TOPMED)
- HGVS:
17.
rs1488345198 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 3:184096157
(GRCh38)
3:183813945
(GRCh37)
- Canonical SPDI:
- NC_000003.12:184096156:G:T
- Gene:
- HTR3E (Varview), HTR3E-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
18.
rs1488171705 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 3:184099451
(GRCh38)
3:183817239
(GRCh37)
- Canonical SPDI:
- NC_000003.12:184099450:A:T
- Gene:
- HTR3E (Varview), HTR3E-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
- HGVS:
19.
rs1488169394 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 3:184108196
(GRCh38)
3:183825984
(GRCh37)
- Canonical SPDI:
- NC_000003.12:184108195:T:C,NC_000003.12:184108195:T:G
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000054/1
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.000223/1
(Estonian)
- HGVS:
20.
rs1487912247 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 3:184102769
(GRCh38)
3:183820557
(GRCh37)
- Canonical SPDI:
- NC_000003.12:184102768:C:A
- Gene:
- HTR3E (Varview), HTR3E-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS: