Links from Nucleotide
Items: 1 to 20 of 3152
1.
rs1491565114 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-,TT
[Show Flanks]
- Chromosome:
- 9:128817384
(GRCh38)
9:131579663
(GRCh37)
- Canonical SPDI:
- NC_000009.12:128817383:TT:T,NC_000009.12:128817383:TT:TTT
- Gene:
- ENDOG (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
TTT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000008/1
(GnomAD)
- HGVS:
2.
rs1491417705 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 9:128816409
(GRCh38)
9:131578688
(GRCh37)
- Canonical SPDI:
- NC_000009.12:128816405:ACACA:ACA
- Validated:
- by frequency,by alfa
- MAF:
ACA=0./0
(
ALFA)
-=0.000022/3
(GnomAD)
- HGVS:
3.
rs1491375456 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 9:128819433
(GRCh38)
9:131581712
(GRCh37)
- Canonical SPDI:
- NC_000009.12:128819432:AT:
- Gene:
- ENDOG (Varview), SPOUT1 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000285/4
(
ALFA)
-=0.000306/81
(TOPMED)
- HGVS:
4.
rs1491262203 has merged into rs57701345 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA
[Show Flanks]
- Chromosome:
- 9:128817380
(GRCh38)
9:131579659
(GRCh37)
- Canonical SPDI:
- NC_000009.12:128817368:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000009.12:128817368:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:128817368:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:128817368:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:128817368:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:128817368:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:128817368:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:128817368:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:128817368:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
- Gene:
- ENDOG (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAA=0./0
(
ALFA)
A=0.001/4
(ALSPAC)
A=0.0016/6
(TWINSUK)
A=0.4595/2301
(1000Genomes)
- HGVS:
NC_000009.12:g.128817380_128817383del, NC_000009.12:g.128817381_128817383del, NC_000009.12:g.128817382_128817383del, NC_000009.12:g.128817383del, NC_000009.12:g.128817383dup, NC_000009.12:g.128817382_128817383dup, NC_000009.12:g.128817381_128817383dup, NC_000009.12:g.128817380_128817383dup, NC_000009.12:g.128817379_128817383dup, NC_000009.11:g.131579659_131579662del, NC_000009.11:g.131579660_131579662del, NC_000009.11:g.131579661_131579662del, NC_000009.11:g.131579662del, NC_000009.11:g.131579662dup, NC_000009.11:g.131579661_131579662dup, NC_000009.11:g.131579660_131579662dup, NC_000009.11:g.131579659_131579662dup, NC_000009.11:g.131579658_131579662dup, NG_046991.1:g.3970_3973del, NG_046991.1:g.3971_3973del, NG_046991.1:g.3972_3973del, NG_046991.1:g.3973del, NG_046991.1:g.3973dup, NG_046991.1:g.3972_3973dup, NG_046991.1:g.3971_3973dup, NG_046991.1:g.3970_3973dup, NG_046991.1:g.3969_3973dup
6.
rs1491094740 has merged into rs57321514 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 9:128818122
(GRCh38)
9:131580401
(GRCh37)
- Canonical SPDI:
- NC_000009.12:128818108:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:128818108:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:128818108:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:128818108:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:128818108:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:128818108:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:128818108:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:128818108:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:128818108:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:128818108:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:128818108:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:128818108:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:128818108:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:128818108:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:128818108:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:128818108:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:128818108:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:128818108:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:128818108:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ENDOG (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
NC_000009.12:g.128818122_128818129del, NC_000009.12:g.128818123_128818129del, NC_000009.12:g.128818125_128818129del, NC_000009.12:g.128818126_128818129del, NC_000009.12:g.128818127_128818129del, NC_000009.12:g.128818128_128818129del, NC_000009.12:g.128818129del, NC_000009.12:g.128818129dup, NC_000009.12:g.128818128_128818129dup, NC_000009.12:g.128818127_128818129dup, NC_000009.12:g.128818126_128818129dup, NC_000009.12:g.128818125_128818129dup, NC_000009.12:g.128818124_128818129dup, NC_000009.12:g.128818123_128818129dup, NC_000009.12:g.128818122_128818129dup, NC_000009.12:g.128818121_128818129dup, NC_000009.12:g.128818120_128818129dup, NC_000009.12:g.128818119_128818129dup, NC_000009.12:g.128818118_128818129dup, NC_000009.11:g.131580401_131580408del, NC_000009.11:g.131580402_131580408del, NC_000009.11:g.131580404_131580408del, NC_000009.11:g.131580405_131580408del, NC_000009.11:g.131580406_131580408del, NC_000009.11:g.131580407_131580408del, NC_000009.11:g.131580408del, NC_000009.11:g.131580408dup, NC_000009.11:g.131580407_131580408dup, NC_000009.11:g.131580406_131580408dup, NC_000009.11:g.131580405_131580408dup, NC_000009.11:g.131580404_131580408dup, NC_000009.11:g.131580403_131580408dup, NC_000009.11:g.131580402_131580408dup, NC_000009.11:g.131580401_131580408dup, NC_000009.11:g.131580400_131580408dup, NC_000009.11:g.131580399_131580408dup, NC_000009.11:g.131580398_131580408dup, NC_000009.11:g.131580397_131580408dup, NG_046991.1:g.4712_4719del, NG_046991.1:g.4713_4719del, NG_046991.1:g.4715_4719del, NG_046991.1:g.4716_4719del, NG_046991.1:g.4717_4719del, NG_046991.1:g.4718_4719del, NG_046991.1:g.4719del, NG_046991.1:g.4719dup, NG_046991.1:g.4718_4719dup, NG_046991.1:g.4717_4719dup, NG_046991.1:g.4716_4719dup, NG_046991.1:g.4715_4719dup, NG_046991.1:g.4714_4719dup, NG_046991.1:g.4713_4719dup, NG_046991.1:g.4712_4719dup, NG_046991.1:g.4711_4719dup, NG_046991.1:g.4710_4719dup, NG_046991.1:g.4709_4719dup, NG_046991.1:g.4708_4719dup
7.
rs1490957204 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:128821366
(GRCh38)
9:131583645
(GRCh37)
- Canonical SPDI:
- NC_000009.12:128821365:A:G
- Gene:
- ENDOG (Varview), SPOUT1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000037/5
(GnomAD)
- HGVS:
8.
rs1490474554 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:128816973
(GRCh38)
9:131579252
(GRCh37)
- Canonical SPDI:
- NC_000009.12:128816972:C:T
- Gene:
- ENDOG (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
9.
rs1490149633 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:128817841
(GRCh38)
9:131580120
(GRCh37)
- Canonical SPDI:
- NC_000009.12:128817840:G:A
- Gene:
- ENDOG (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
10.
rs1489888158 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:128816410
(GRCh38)
9:131578689
(GRCh37)
- Canonical SPDI:
- NC_000009.12:128816409:A:G
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000023/6
(TOPMED)
- HGVS:
11.
rs1489574971 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:128815418
(GRCh38)
9:131577697
(GRCh37)
- Canonical SPDI:
- NC_000009.12:128815417:C:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0./0
(KOREAN)
T=0.000021/3
(GnomAD)
T=0.00003/8
(TOPMED)
- HGVS:
12.
rs1488886227 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:128823937
(GRCh38)
9:131586216
(GRCh37)
- Canonical SPDI:
- NC_000009.12:128823936:C:T
- Gene:
- SPOUT1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000019/5
(TOPMED)
- HGVS:
13.
rs1488881534 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:128817771
(GRCh38)
9:131580050
(GRCh37)
- Canonical SPDI:
- NC_000009.12:128817770:C:T
- Gene:
- ENDOG (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
- HGVS:
14.
rs1488801733 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:128817968
(GRCh38)
9:131580247
(GRCh37)
- Canonical SPDI:
- NC_000009.12:128817967:C:T
- Gene:
- ENDOG (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
15.
rs1488794080 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 9:128824169
(GRCh38)
9:131586448
(GRCh37)
- Canonical SPDI:
- NC_000009.12:128824165:ACACA:ACA
- Gene:
- SPOUT1 (Varview)
- Functional Consequence:
- coding_sequence_variant,genic_downstream_transcript_variant,frameshift_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACA=0.000224/1
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000223/1
(Estonian)
- HGVS:
NC_000009.12:g.128824167CA[1], NC_000009.11:g.131586446CA[1], NG_046991.1:g.10757CA[1], NM_016390.4:c.819_820del, NM_016390.3:c.819_820del, XM_047423460.1:c.837_838del, XM_047423459.1:c.837_838del, XM_047423461.1:c.819_820del, XM_047423462.1:c.837_838del, XM_047423463.1:c.819_820del, NP_057474.2:p.Phe274fs, XP_047279416.1:p.Phe280fs, XP_047279415.1:p.Phe280fs, XP_047279417.1:p.Phe274fs, XP_047279418.1:p.Phe280fs, XP_047279419.1:p.Phe274fs
17.
rs1488738046 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 9:128820377
(GRCh38)
9:131582656
(GRCh37)
- Canonical SPDI:
- NC_000009.12:128820376:G:C
- Gene:
- ENDOG (Varview), SPOUT1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
- HGVS:
18.
rs1488490143 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:128822583
(GRCh38)
9:131584862
(GRCh37)
- Canonical SPDI:
- NC_000009.12:128822582:C:T
- Gene:
- ENDOG (Varview), SPOUT1 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000006/1
(GnomAD_exomes)
T=0.000014/2
(GnomAD)
- HGVS:
NC_000009.12:g.128822583C>T, NC_000009.11:g.131584862C>T, NG_046991.1:g.9173C>T, NM_004435.2:c.867C>T, NM_016390.4:c.*182G>A, NM_016390.3:c.*182G>A, XM_011518347.3:c.*244C>T, XM_011518347.2:c.*244C>T, XM_011518347.1:c.*244C>T, XM_047423460.1:c.*182G>A, XM_047423459.1:c.*142G>A, XM_047423461.1:c.*142G>A, XM_047423462.1:c.*142G>A, XM_047423463.1:c.*142G>A
19.
rs1488383167 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:128823383
(GRCh38)
9:131585662
(GRCh37)
- Canonical SPDI:
- NC_000009.12:128823382:T:C
- Gene:
- SPOUT1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
20.
rs1488366059 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:128815002
(GRCh38)
9:131577281
(GRCh37)
- Canonical SPDI:
- NC_000009.12:128815001:A:G
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS: