Links from Nucleotide
Items: 1 to 20 of 1000
1.
rs1491541222 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 3:50263498
(GRCh38)
3:50300930
(GRCh37)
- Canonical SPDI:
- NC_000003.12:50263497:CA:
- Gene:
- GNAI2 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00008/1
(
ALFA)
-=0.00329/52
(TOMMO)
- HGVS:
2.
rs1491357010 has merged into rs1173351827 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 3:50263508
(GRCh38)
3:50300940
(GRCh37)
- Canonical SPDI:
- NC_000003.12:50263498:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000003.12:50263498:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:50263498:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:50263498:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:50263498:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:50263498:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:50263498:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:50263498:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:50263498:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:50263498:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:50263498:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:50263498:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:50263498:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:50263498:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:50263498:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:50263498:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:50263498:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:50263498:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:50263498:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:50263498:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:50263498:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:50263498:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- GNAI2 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000003.12:g.50263508_50263525del, NC_000003.12:g.50263512_50263525del, NC_000003.12:g.50263513_50263525del, NC_000003.12:g.50263514_50263525del, NC_000003.12:g.50263515_50263525del, NC_000003.12:g.50263516_50263525del, NC_000003.12:g.50263517_50263525del, NC_000003.12:g.50263518_50263525del, NC_000003.12:g.50263519_50263525del, NC_000003.12:g.50263520_50263525del, NC_000003.12:g.50263521_50263525del, NC_000003.12:g.50263522_50263525del, NC_000003.12:g.50263523_50263525del, NC_000003.12:g.50263524_50263525del, NC_000003.12:g.50263525del, NC_000003.12:g.50263525dup, NC_000003.12:g.50263524_50263525dup, NC_000003.12:g.50263523_50263525dup, NC_000003.12:g.50263522_50263525dup, NC_000003.12:g.50263521_50263525dup, NC_000003.12:g.50263520_50263525dup, NC_000003.12:g.50263508_50263525dup, NW_003871059.1:g.33356_33373del, NW_003871059.1:g.33360_33373del, NW_003871059.1:g.33361_33373del, NW_003871059.1:g.33362_33373del, NW_003871059.1:g.33363_33373del, NW_003871059.1:g.33364_33373del, NW_003871059.1:g.33365_33373del, NW_003871059.1:g.33366_33373del, NW_003871059.1:g.33367_33373del, NW_003871059.1:g.33368_33373del, NW_003871059.1:g.33369_33373del, NW_003871059.1:g.33370_33373del, NW_003871059.1:g.33371_33373del, NW_003871059.1:g.33372_33373del, NW_003871059.1:g.33373del, NW_003871059.1:g.33373dup, NW_003871059.1:g.33372_33373dup, NW_003871059.1:g.33371_33373dup, NW_003871059.1:g.33370_33373dup, NW_003871059.1:g.33369_33373dup, NW_003871059.1:g.33368_33373dup, NW_003871059.1:g.33356_33373dup, NG_032938.1:g.901_918del, NG_032938.1:g.905_918del, NG_032938.1:g.906_918del, NG_032938.1:g.907_918del, NG_032938.1:g.908_918del, NG_032938.1:g.909_918del, NG_032938.1:g.910_918del, NG_032938.1:g.911_918del, NG_032938.1:g.912_918del, NG_032938.1:g.913_918del, NG_032938.1:g.914_918del, NG_032938.1:g.915_918del, NG_032938.1:g.916_918del, NG_032938.1:g.917_918del, NG_032938.1:g.918del, NG_032938.1:g.918dup, NG_032938.1:g.917_918dup, NG_032938.1:g.916_918dup, NG_032938.1:g.915_918dup, NG_032938.1:g.914_918dup, NG_032938.1:g.913_918dup, NG_032938.1:g.901_918dup, NC_000003.11:g.50300940_50300957del, NC_000003.11:g.50300944_50300957del, NC_000003.11:g.50300945_50300957del, NC_000003.11:g.50300946_50300957del, NC_000003.11:g.50300947_50300957del, NC_000003.11:g.50300948_50300957del, NC_000003.11:g.50300949_50300957del, NC_000003.11:g.50300950_50300957del, NC_000003.11:g.50300951_50300957del, NC_000003.11:g.50300952_50300957del, NC_000003.11:g.50300953_50300957del, NC_000003.11:g.50300954_50300957del, NC_000003.11:g.50300955_50300957del, NC_000003.11:g.50300956_50300957del, NC_000003.11:g.50300957del, NC_000003.11:g.50300957dup, NC_000003.11:g.50300956_50300957dup, NC_000003.11:g.50300955_50300957dup, NC_000003.11:g.50300954_50300957dup, NC_000003.11:g.50300953_50300957dup, NC_000003.11:g.50300952_50300957dup, NC_000003.11:g.50300940_50300957dup
3.
rs1490940368 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:50265774
(GRCh38)
3:50303206
(GRCh37)
- Canonical SPDI:
- NC_000003.12:50265773:G:A
- Gene:
- SEMA3B (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
4.
rs1490914438 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 3:50266824
(GRCh38)
3:50304256
(GRCh37)
- Canonical SPDI:
- NC_000003.12:50266823:G:
- Gene:
- SEMA3B (Varview), SEMA3B-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS:
5.
rs1490499822 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:50273212
(GRCh38)
3:50310643
(GRCh37)
- Canonical SPDI:
- NC_000003.12:50273211:C:T
- Gene:
- SEMA3B (Varview), MIR6872 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
6.
rs1490144814 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:50275495
(GRCh38)
3:50312926
(GRCh37)
- Canonical SPDI:
- NC_000003.12:50275494:G:A
- Gene:
- SEMA3B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000015/4
(TOPMED)
- HGVS:
7.
rs1490011078 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:50273743
(GRCh38)
3:50311174
(GRCh37)
- Canonical SPDI:
- NC_000003.12:50273742:G:A
- Gene:
- SEMA3B (Varview), MIR6872 (Varview)
- Functional Consequence:
- intron_variant,splice_acceptor_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
A=0.00003/8
(TOPMED)
- HGVS:
8.
rs1489795091 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 3:50266184
(GRCh38)
3:50303616
(GRCh37)
- Canonical SPDI:
- NC_000003.12:50266183:G:A,NC_000003.12:50266183:G:C
- Gene:
- SEMA3B (Varview), SEMA3B-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
9.
rs1489745323 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:50267454
(GRCh38)
3:50304886
(GRCh37)
- Canonical SPDI:
- NC_000003.12:50267453:A:G
- Gene:
- SEMA3B (Varview), SEMA3B-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
10.
rs1489456396 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 3:50268722
(GRCh38)
3:50306154
(GRCh37)
- Canonical SPDI:
- NC_000003.12:50268721:T:C
- Gene:
- SEMA3B (Varview), SEMA3B-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
11.
rs1489257558 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:50271810
(GRCh38)
3:50309241
(GRCh37)
- Canonical SPDI:
- NC_000003.12:50271809:A:G
- Gene:
- SEMA3B (Varview), MIR6872 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000021/3
(GnomAD)
- HGVS:
12.
rs1489116184 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 3:50267323
(GRCh38)
3:50304755
(GRCh37)
- Canonical SPDI:
- NC_000003.12:50267322:C:G
- Gene:
- SEMA3B (Varview), SEMA3B-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000019/5
(TOPMED)
G=0.000036/5
(GnomAD)
- HGVS:
13.
rs1489106564 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:50268134
(GRCh38)
3:50305566
(GRCh37)
- Canonical SPDI:
- NC_000003.12:50268133:C:T
- Gene:
- SEMA3B (Varview), SEMA3B-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
14.
rs1488989911 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:50270339
(GRCh38)
3:50307770
(GRCh37)
- Canonical SPDI:
- NC_000003.12:50270338:C:T
- Gene:
- SEMA3B (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
15.
rs1488956808 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:50269070
(GRCh38)
3:50306502
(GRCh37)
- Canonical SPDI:
- NC_000003.12:50269069:C:T
- Gene:
- SEMA3B (Varview), SEMA3B-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
16.
rs1488777792 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 3:50267622
(GRCh38)
3:50305054
(GRCh37)
- Canonical SPDI:
- NC_000003.12:50267621:T:C
- Gene:
- SEMA3B (Varview), SEMA3B-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
17.
rs1487974105 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:50269444
(GRCh38)
3:50306875
(GRCh37)
- Canonical SPDI:
- NC_000003.12:50269443:G:A
- Gene:
- SEMA3B (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
18.
rs1487695276 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TCC
[Show Flanks]
- Chromosome:
- 3:50276075
(GRCh38)
3:50313507
(GRCh37)
- Canonical SPDI:
- NC_000003.12:50276075:TCC:TCCTCC
- Gene:
- SEMA3B (Varview), LSMEM2 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCCTCC=0./0
(
ALFA)
TCC=0.000021/3
(GnomAD)
TCC=0.00003/8
(TOPMED)
- HGVS:
19.
rs1487544629 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,T
[Show Flanks]
- Chromosome:
- 3:50264234
(GRCh38)
3:50301666
(GRCh37)
- Canonical SPDI:
- NC_000003.12:50264233:A:C,NC_000003.12:50264233:A:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000162/3
(
ALFA)
T=0.000019/5
(TOPMED)
T=0.00067/3
(Estonian)
- HGVS:
20.
rs1487493002 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 3:50265220
(GRCh38)
3:50302652
(GRCh37)
- Canonical SPDI:
- NC_000003.12:50265219:G:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000142/2
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000021/3
(GnomAD)
T=0.000156/1
(1000Genomes)
- HGVS: