Links from Nucleotide
Items: 1 to 20 of 14358
1.
rs1491443388 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TGAG,TGTGAG,TGTGTGAG,TGTGTGTGAG,TGTGTGTGTGAG,TGTGTGTGTGTGAG,TGTGTGTGTGTGTGAG
[Show Flanks]
- Chromosome:
- 5:148393234
(GRCh38)
5:147772798
(GRCh37)
- Canonical SPDI:
- NC_000005.10:148393234:G:GTGAG,NC_000005.10:148393234:G:GTGTGAG,NC_000005.10:148393234:G:GTGTGTGAG,NC_000005.10:148393234:G:GTGTGTGTGAG,NC_000005.10:148393234:G:GTGTGTGTGTGAG,NC_000005.10:148393234:G:GTGTGTGTGTGTGAG,NC_000005.10:148393234:G:GTGTGTGTGTGTGTGAG
- Gene:
- FBXO38 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000005.10:g.148393235_148393236insTGAG, NC_000005.10:g.148393235GT[2]GAG[1], NC_000005.10:g.148393235GT[3]GAG[1], NC_000005.10:g.148393235GT[4]GAG[1], NC_000005.10:g.148393235GT[5]GAG[1], NC_000005.10:g.148393235GT[6]GAG[1], NC_000005.10:g.148393235GT[7]GAG[1], NC_000005.9:g.147772798_147772799insTGAG, NC_000005.9:g.147772798GT[2]GAG[1], NC_000005.9:g.147772798GT[3]GAG[1], NC_000005.9:g.147772798GT[4]GAG[1], NC_000005.9:g.147772798GT[5]GAG[1], NC_000005.9:g.147772798GT[6]GAG[1], NC_000005.9:g.147772798GT[7]GAG[1], NG_033871.1:g.14301_14302insTGAG, NG_033871.1:g.14301GT[2]GAG[1], NG_033871.1:g.14301GT[3]GAG[1], NG_033871.1:g.14301GT[4]GAG[1], NG_033871.1:g.14301GT[5]GAG[1], NG_033871.1:g.14301GT[6]GAG[1], NG_033871.1:g.14301GT[7]GAG[1]
2.
rs1491401064 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 5:148420127
(GRCh38)
5:147799690
(GRCh37)
- Canonical SPDI:
- NC_000005.10:148420126:GT:
- Gene:
- FBXO38 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000037/5
(GnomAD)
- HGVS:
3.
rs1491347010 has merged into rs35962676 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT,TTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 5:148422059
(GRCh38)
5:147801622
(GRCh37)
- Canonical SPDI:
- NC_000005.10:148422047:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:148422047:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:148422047:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:148422047:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:148422047:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:148422047:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
- Gene:
- FBXO38 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
T=0.19064/114
(NorthernSweden)
T=0.23223/1163
(1000Genomes)
T=0.233/898
(ALSPAC)
T=0.23544/873
(TWINSUK)
- HGVS:
NC_000005.10:g.148422059_148422061del, NC_000005.10:g.148422060_148422061del, NC_000005.10:g.148422061del, NC_000005.10:g.148422061dup, NC_000005.10:g.148422060_148422061dup, NC_000005.10:g.148422054_148422061dup, NC_000005.9:g.147801622_147801624del, NC_000005.9:g.147801623_147801624del, NC_000005.9:g.147801624del, NC_000005.9:g.147801624dup, NC_000005.9:g.147801623_147801624dup, NC_000005.9:g.147801617_147801624dup, NG_033871.1:g.43125_43127del, NG_033871.1:g.43126_43127del, NG_033871.1:g.43127del, NG_033871.1:g.43127dup, NG_033871.1:g.43126_43127dup, NG_033871.1:g.43120_43127dup
4.
rs1491288291 has merged into rs71001489 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT
[Show Flanks]
- Chromosome:
- 5:148420140
(GRCh38)
5:147799703
(GRCh37)
- Canonical SPDI:
- NC_000005.10:148420127:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:148420127:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:148420127:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:148420127:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:148420127:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
- Gene:
- FBXO38 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000005.10:g.148420140_148420142del, NC_000005.10:g.148420141_148420142del, NC_000005.10:g.148420142del, NC_000005.10:g.148420142dup, NC_000005.10:g.148420141_148420142dup, NC_000005.9:g.147799703_147799705del, NC_000005.9:g.147799704_147799705del, NC_000005.9:g.147799705del, NC_000005.9:g.147799705dup, NC_000005.9:g.147799704_147799705dup, NG_033871.1:g.41206_41208del, NG_033871.1:g.41207_41208del, NG_033871.1:g.41208del, NG_033871.1:g.41208dup, NG_033871.1:g.41207_41208dup
5.
rs1491285808 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GGTTTGTT
[Show Flanks]
- Chromosome:
- 5:148422951
(GRCh38)
5:147802515
(GRCh37)
- Canonical SPDI:
- NC_000005.10:148422951:GTT:GTTGGTTTGTT
- Gene:
- FBXO38 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GTTGGTTTGTT=0./0
(
ALFA)
GTTGGTTT=0.000007/1
(GnomAD)
- HGVS:
6.
rs1491163254 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 5:148398456
(GRCh38)
5:147778019
(GRCh37)
- Canonical SPDI:
- NC_000005.10:148398455:AT:
- Gene:
- FBXO38 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
7.
rs1491134283 has merged into rs79554071 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTTTGTTTGTTTGTTT>-,GTTT,GTTTGTTT,GTTTGTTTGTTT,GTTTGTTTGTTTGTTTGTTT,GTTTGTTTGTTTGTTTGTTTGTTT,GTTTGTTTGTTTGTTTGTTTGTTTGTTT,GTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTT
[Show Flanks]
- Chromosome:
- 5:148422972
(GRCh38)
5:147802535
(GRCh37)
- Canonical SPDI:
- NC_000005.10:148422951:GTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTT:GTTTGTTTGTTTGTTTGTTT,NC_000005.10:148422951:GTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTT:GTTTGTTTGTTTGTTTGTTTGTTT,NC_000005.10:148422951:GTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTT:GTTTGTTTGTTTGTTTGTTTGTTTGTTT,NC_000005.10:148422951:GTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTT:GTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTT,NC_000005.10:148422951:GTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTT:GTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTT,NC_000005.10:148422951:GTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTT:GTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTT,NC_000005.10:148422951:GTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTT:GTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTT,NC_000005.10:148422951:GTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTT:GTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTT
- Gene:
- FBXO38 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTTTGTTTGTTTGTTTGTTTGTTTGTTT=0./0
(
ALFA)
-=0.000019/5
(TOPMED)
- HGVS:
NC_000005.10:g.148422952GTTT[5], NC_000005.10:g.148422952GTTT[6], NC_000005.10:g.148422952GTTT[7], NC_000005.10:g.148422952GTTT[8], NC_000005.10:g.148422952GTTT[10], NC_000005.10:g.148422952GTTT[11], NC_000005.10:g.148422952GTTT[12], NC_000005.10:g.148422952GTTT[13], NC_000005.9:g.147802515GTTT[5], NC_000005.9:g.147802515GTTT[6], NC_000005.9:g.147802515GTTT[7], NC_000005.9:g.147802515GTTT[8], NC_000005.9:g.147802515GTTT[10], NC_000005.9:g.147802515GTTT[11], NC_000005.9:g.147802515GTTT[12], NC_000005.9:g.147802515GTTT[13], NG_033871.1:g.44018GTTT[5], NG_033871.1:g.44018GTTT[6], NG_033871.1:g.44018GTTT[7], NG_033871.1:g.44018GTTT[8], NG_033871.1:g.44018GTTT[10], NG_033871.1:g.44018GTTT[11], NG_033871.1:g.44018GTTT[12], NG_033871.1:g.44018GTTT[13]
8.
rs1491082280 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 5:148435150
(GRCh38)
5:147814713
(GRCh37)
- Canonical SPDI:
- NC_000005.10:148435149:GA:
- Gene:
- FBXO38 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.000278/39
(GnomAD)
-=0.000468/3
(1000Genomes)
- HGVS:
9.
rs1491020330 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AT
[Show Flanks]
- Chromosome:
- 5:148392619
(GRCh38)
5:147772183
(GRCh37)
- Canonical SPDI:
- NC_000005.10:148392619:TAT:TATAT
- Gene:
- FBXO38 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATAT=0./0
(
ALFA)
TA=0.000008/1
(GnomAD)
TA=0.001019/17
(TOMMO)
- HGVS:
10.
rs1490898987 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 5:148418591
(GRCh38)
5:147798154
(GRCh37)
- Canonical SPDI:
- NC_000005.10:148418590:A:C
- Gene:
- FBXO38 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.000034/9
(TOPMED)
- HGVS:
11.
rs1490797766 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 5:148385475
(GRCh38)
5:147765038
(GRCh37)
- Canonical SPDI:
- NC_000005.10:148385474:C:T
- Gene:
- FBXO38 (Varview), FBXO38-DT (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
12.
rs1490742909 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 5:148398960
(GRCh38)
5:147778523
(GRCh37)
- Canonical SPDI:
- NC_000005.10:148398959:T:C
- Gene:
- FBXO38 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
13.
rs1490688830 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 5:148437405
(GRCh38)
5:147816968
(GRCh37)
- Canonical SPDI:
- NC_000005.10:148437404:A:G
- Gene:
- FBXO38 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000224/1
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000223/1
(Estonian)
- HGVS:
14.
rs1490605813 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 5:148409419
(GRCh38)
5:147788982
(GRCh37)
- Canonical SPDI:
- NC_000005.10:148409418:G:A
- Gene:
- FBXO38 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
15.
rs1490580086 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 5:148402172
(GRCh38)
5:147781735
(GRCh37)
- Canonical SPDI:
- NC_000005.10:148402171:G:A,NC_000005.10:148402171:G:C
- Gene:
- FBXO38 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
C=0.000004/1
(TOPMED)
- HGVS:
16.
rs1490495853 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 5:148399506
(GRCh38)
5:147779069
(GRCh37)
- Canonical SPDI:
- NC_000005.10:148399505:C:T
- Gene:
- FBXO38 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000342/1
(KOREAN)
- HGVS:
17.
rs1490310924 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 5:148386066
(GRCh38)
5:147765629
(GRCh37)
- Canonical SPDI:
- NC_000005.10:148386065:G:A
- Gene:
- FBXO38 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000015/4
(TOPMED)
- HGVS:
18.
rs1490229672 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 5:148442801
(GRCh38)
5:147822364
(GRCh37)
- Canonical SPDI:
- NC_000005.10:148442800:A:G
- Gene:
- FBXO38 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
NC_000005.10:g.148442801A>G, NC_000005.9:g.147822364A>G, NG_033871.1:g.63867A>G, NM_030793.5:c.*654A>G, NM_030793.4:c.*654A>G, NM_205836.3:c.*654A>G, NM_205836.2:c.*654A>G, NM_205836.1:c.*654A>G, NM_001271723.2:c.*654A>G, NM_001271723.1:c.*654A>G, XM_006714797.3:c.*654A>G, XM_006714797.2:c.*654A>G, XM_006714797.1:c.*654A>G, XM_024446223.2:c.*654A>G, XM_024446223.1:c.*654A>G, XM_047417784.1:c.*654A>G, XM_047417786.1:c.*654A>G, XM_047417787.1:c.*654A>G, XM_047417788.1:c.*654A>G
19.
rs1490225009 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 5:148436582
(GRCh38)
5:147816145
(GRCh37)
- Canonical SPDI:
- NC_000005.10:148436581:A:G
- Gene:
- FBXO38 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000033/4
(GnomAD)
- HGVS:
20.
rs1490195982 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 5:148425553
(GRCh38)
5:147805116
(GRCh37)
- Canonical SPDI:
- NC_000005.10:148425552:A:C
- Gene:
- FBXO38 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000011/3
(TOPMED)
- HGVS:
NC_000005.10:g.148425553A>C, NC_000005.9:g.147805116A>C, NG_033871.1:g.46619A>C, NM_030793.5:c.1770A>C, NM_030793.4:c.1770A>C, NM_205836.3:c.1770A>C, NM_205836.2:c.1770A>C, NM_205836.1:c.1770A>C, NM_001271723.2:c.1770A>C, NM_001271723.1:c.1770A>C, XM_006714797.3:c.1770A>C, XM_006714797.2:c.1770A>C, XM_006714797.1:c.1770A>C, XM_024446223.2:c.1770A>C, XM_024446223.1:c.1770A>C, XM_047417784.1:c.1770A>C, XM_047417786.1:c.1770A>C, XM_047417787.1:c.672A>C, XM_047417785.1:c.1770A>C, XM_047417788.1:c.570A>C, XM_047417789.1:c.1770A>C, NM_024862.1:c.*718A>C