Links from Nucleotide
Items: 1 to 20 of 1000
1.
rs1490830929 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 8:127736076
(GRCh38)
8:128748322
(GRCh37)
- Canonical SPDI:
- NC_000008.11:127736075:G:T
- Gene:
- MYC (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
2.
rs1490644442 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 8:127738287
(GRCh38)
8:128750533
(GRCh37)
- Canonical SPDI:
- NC_000008.11:127738286:A:T
- Gene:
- MYC (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
3.
rs1490506507 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 8:127737826
(GRCh38)
8:128750072
(GRCh37)
- Canonical SPDI:
- NC_000008.11:127737825:C:G
- Gene:
- MYC (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000021/3
(GnomAD)
- HGVS:
4.
rs1490461274 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 8:127743446
(GRCh38)
8:128755692
(GRCh37)
- Canonical SPDI:
- NC_000008.11:127743445:C:A
- Gene:
- MYC (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000026/7
(TOPMED)
A=0.000036/5
(GnomAD)
- HGVS:
5.
rs1490395875 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 8:127742408
(GRCh38)
8:128754654
(GRCh37)
- Canonical SPDI:
- NC_000008.11:127742407:A:G
- Gene:
- MYC (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
6.
rs1490182484 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 8:127736217
(GRCh38)
8:128748463
(GRCh37)
- Canonical SPDI:
- NC_000008.11:127736216:T:C
- Gene:
- MYC (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000224/1
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000223/1
(Estonian)
- HGVS:
7.
rs1490065537 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 8:127741545
(GRCh38)
8:128753791
(GRCh37)
- Canonical SPDI:
- NC_000008.11:127741544:C:T
- Gene:
- MYC (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
8.
rs1490057941 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 8:127740546
(GRCh38)
8:128752792
(GRCh37)
- Canonical SPDI:
- NC_000008.11:127740545:C:G
- Gene:
- MYC (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
9.
rs1490014511 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 8:127735753
(GRCh38)
8:128747999
(GRCh37)
- Canonical SPDI:
- NC_000008.11:127735752:A:G
- Gene:
- MYC (Varview), CASC11 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant,upstream_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:
10.
rs1489420810 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 8:127738945
(GRCh38)
8:128751191
(GRCh37)
- Canonical SPDI:
- NC_000008.11:127738944:A:T
- Gene:
- MYC (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
11.
rs1489100729 has merged into rs56354115 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 8:127731059
(GRCh38)
8:128743305
(GRCh37)
- Canonical SPDI:
- NC_000008.11:127731048:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000008.11:127731048:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000008.11:127731048:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:127731048:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:127731048:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:127731048:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:127731048:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:127731048:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:127731048:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000008.11:127731048:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000008.11:127731048:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000008.11:127731048:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000008.11:127731048:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:127731048:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:127731048:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:127731048:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:127731048:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:127731048:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:127731048:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:127731048:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:127731048:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:127731048:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:127731048:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:127731048:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- CASC11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000008.11:g.127731059_127731070del, NC_000008.11:g.127731060_127731070del, NC_000008.11:g.127731061_127731070del, NC_000008.11:g.127731062_127731070del, NC_000008.11:g.127731063_127731070del, NC_000008.11:g.127731064_127731070del, NC_000008.11:g.127731065_127731070del, NC_000008.11:g.127731066_127731070del, NC_000008.11:g.127731067_127731070del, NC_000008.11:g.127731068_127731070del, NC_000008.11:g.127731069_127731070del, NC_000008.11:g.127731070del, NC_000008.11:g.127731070dup, NC_000008.11:g.127731069_127731070dup, NC_000008.11:g.127731068_127731070dup, NC_000008.11:g.127731067_127731070dup, NC_000008.11:g.127731066_127731070dup, NC_000008.11:g.127731065_127731070dup, NC_000008.11:g.127731064_127731070dup, NC_000008.11:g.127731063_127731070dup, NC_000008.11:g.127731056_127731070dup, NC_000008.11:g.127731055_127731070dup, NC_000008.11:g.127731070_127731071insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.127731070_127731071insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.128743305_128743316del, NC_000008.10:g.128743306_128743316del, NC_000008.10:g.128743307_128743316del, NC_000008.10:g.128743308_128743316del, NC_000008.10:g.128743309_128743316del, NC_000008.10:g.128743310_128743316del, NC_000008.10:g.128743311_128743316del, NC_000008.10:g.128743312_128743316del, NC_000008.10:g.128743313_128743316del, NC_000008.10:g.128743314_128743316del, NC_000008.10:g.128743315_128743316del, NC_000008.10:g.128743316del, NC_000008.10:g.128743316dup, NC_000008.10:g.128743315_128743316dup, NC_000008.10:g.128743314_128743316dup, NC_000008.10:g.128743313_128743316dup, NC_000008.10:g.128743312_128743316dup, NC_000008.10:g.128743311_128743316dup, NC_000008.10:g.128743310_128743316dup, NC_000008.10:g.128743309_128743316dup, NC_000008.10:g.128743302_128743316dup, NC_000008.10:g.128743301_128743316dup, NC_000008.10:g.128743316_128743317insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.128743316_128743317insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_007161.2:g.626_637del, NG_007161.2:g.627_637del, NG_007161.2:g.628_637del, NG_007161.2:g.629_637del, NG_007161.2:g.630_637del, NG_007161.2:g.631_637del, NG_007161.2:g.632_637del, NG_007161.2:g.633_637del, NG_007161.2:g.634_637del, NG_007161.2:g.635_637del, NG_007161.2:g.636_637del, NG_007161.2:g.637del, NG_007161.2:g.637dup, NG_007161.2:g.636_637dup, NG_007161.2:g.635_637dup, NG_007161.2:g.634_637dup, NG_007161.2:g.633_637dup, NG_007161.2:g.632_637dup, NG_007161.2:g.631_637dup, NG_007161.2:g.630_637dup, NG_007161.2:g.623_637dup, NG_007161.2:g.622_637dup, NG_007161.2:g.637_638insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_007161.2:g.637_638insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
12.
rs1488935369 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 8:127735357
(GRCh38)
8:128747603
(GRCh37)
- Canonical SPDI:
- NC_000008.11:127735356:C:G,NC_000008.11:127735356:C:T
- Gene:
- MYC (Varview), CASC11 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.00004/1
(TOMMO)
- HGVS:
13.
rs1488888320 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 8:127737125
(GRCh38)
8:128749371
(GRCh37)
- Canonical SPDI:
- NC_000008.11:127737124:G:A,NC_000008.11:127737124:G:C
- Gene:
- MYC (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
14.
rs1488700456 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 8:127735960
(GRCh38)
8:128748206
(GRCh37)
- Canonical SPDI:
- NC_000008.11:127735959:G:C
- Gene:
- MYC (Varview), CASC11 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
C=0.00061/17
(TOMMO)
C=0.00164/3
(Korea1K)
- HGVS:
15.
rs1488651345 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 8:127734095
(GRCh38)
8:128746341
(GRCh37)
- Canonical SPDI:
- NC_000008.11:127734094:G:C
- Gene:
- MYC (Varview), CASC11 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
16.
rs1488368345 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 8:127737884
(GRCh38)
8:128750130
(GRCh37)
- Canonical SPDI:
- NC_000008.11:127737883:G:A,NC_000008.11:127737883:G:T
- Gene:
- MYC (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
17.
rs1487657783 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 8:127739990
(GRCh38)
8:128752236
(GRCh37)
- Canonical SPDI:
- NC_000008.11:127739989:A:T
- Gene:
- MYC (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.0007/3
(
ALFA)
T=0.0007/3
(Estonian)
T=0.0017/5
(KOREAN)
- HGVS:
18.
rs1487561208 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G,T
[Show Flanks]
- Chromosome:
- 8:127740908
(GRCh38)
8:128753154
(GRCh37)
- Canonical SPDI:
- NC_000008.11:127740907:C:A,NC_000008.11:127740907:C:G,NC_000008.11:127740907:C:T
- Gene:
- MYC (Varview)
- Functional Consequence:
- missense_variant,stop_gained,coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by cluster
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000008.11:g.127740908C>A, NC_000008.11:g.127740908C>G, NC_000008.11:g.127740908C>T, NC_000008.10:g.128753154C>A, NC_000008.10:g.128753154C>G, NC_000008.10:g.128753154C>T, NG_007161.2:g.10475C>A, NG_007161.2:g.10475C>G, NG_007161.2:g.10475C>T, NM_002467.6:c.1315C>A, NM_002467.6:c.1315C>G, NM_002467.6:c.1315C>T, NM_002467.5:c.1315C>A, NM_002467.5:c.1315C>G, NM_002467.5:c.1315C>T, NM_002467.4:c.1315C>A, NM_002467.4:c.1315C>G, NM_002467.4:c.1315C>T, NM_001354870.1:c.1312C>A, NM_001354870.1:c.1312C>G, NM_001354870.1:c.1312C>T, NP_002458.2:p.Arg439Gly, NP_002458.2:p.Arg439Ter, NP_001341799.1:p.Arg438Gly, NP_001341799.1:p.Arg438Ter
19.
rs1487443940 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 8:127739981
(GRCh38)
8:128752227
(GRCh37)
- Canonical SPDI:
- NC_000008.11:127739980:T:C
- Gene:
- MYC (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000035/1
(TOMMO)
- HGVS:
20.
rs1487396802 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 8:127742920
(GRCh38)
8:128755166
(GRCh37)
- Canonical SPDI:
- NC_000008.11:127742919:C:G
- Gene:
- MYC (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS: