Links from Gene
Items: 1 to 20 of 1745
1.
rs1490969966 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:65917521
(GRCh38)
11:65684992
(GRCh37)
- Canonical SPDI:
- NC_000011.10:65917520:G:A
- Gene:
- DRAP1 (Varview), C11orf68 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000085/3
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS:
2.
rs1490939241 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:65918116
(GRCh38)
11:65685587
(GRCh37)
- Canonical SPDI:
- NC_000011.10:65918115:G:A
- Gene:
- DRAP1 (Varview), C11orf68 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
4.
rs1489792033 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:65920421
(GRCh38)
11:65687892
(GRCh37)
- Canonical SPDI:
- NC_000011.10:65920420:C:T
- Gene:
- DRAP1 (Varview), C11orf68 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
5.
rs1488889719 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 11:65919458
(GRCh38)
11:65686929
(GRCh37)
- Canonical SPDI:
- NC_000011.10:65919457:G:T
- Gene:
- DRAP1 (Varview), C11orf68 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000023/6
(TOPMED)
- HGVS:
7.
rs1488114661 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:65920196
(GRCh38)
11:65687667
(GRCh37)
- Canonical SPDI:
- NC_000011.10:65920195:G:A
- Gene:
- DRAP1 (Varview), C11orf68 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
8.
rs1487328715 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:65919519
(GRCh38)
11:65686990
(GRCh37)
- Canonical SPDI:
- NC_000011.10:65919518:G:A
- Gene:
- DRAP1 (Varview), C11orf68 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
A=0.000007/1
(GnomAD_exomes)
- HGVS:
9.
rs1487263338 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:65919609
(GRCh38)
11:65687080
(GRCh37)
- Canonical SPDI:
- NC_000011.10:65919608:C:T
- Gene:
- DRAP1 (Varview), C11orf68 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
T=0.000007/1
(GnomAD)
- HGVS:
10.
rs1486590917 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:65918021
(GRCh38)
11:65685492
(GRCh37)
- Canonical SPDI:
- NC_000011.10:65918020:T:C
- Gene:
- DRAP1 (Varview), C11orf68 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
11.
rs1486516871 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 11:65921987
(GRCh38)
11:65689458
(GRCh37)
- Canonical SPDI:
- NC_000011.10:65921986:A:T
- Gene:
- DRAP1 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000029/4
(GnomAD)
T=0.000034/9
(TOPMED)
T=0.000354/6
(TOMMO)
T=0.001027/3
(KOREAN)
T=0.001093/2
(Korea1K)
- HGVS:
12.
rs1486498200 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:65920953
(GRCh38)
11:65688424
(GRCh37)
- Canonical SPDI:
- NC_000011.10:65920952:C:T
- Gene:
- DRAP1 (Varview), C11orf68 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000031/1
(
ALFA)
T=0.000004/1
(GnomAD_exomes)
- HGVS:
13.
rs1486403938 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:65917629
(GRCh38)
11:65685100
(GRCh37)
- Canonical SPDI:
- NC_000011.10:65917628:C:T
- Gene:
- DRAP1 (Varview), C11orf68 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000111/1
(
ALFA)
T=0.000004/1
(GnomAD_exomes)
- HGVS:
14.
rs1485516045 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:65919167
(GRCh38)
11:65686638
(GRCh37)
- Canonical SPDI:
- NC_000011.10:65919166:G:A
- Gene:
- DRAP1 (Varview), C11orf68 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
A=0.000425/7
(TOMMO)
- HGVS:
15.
rs1483750313 has merged into rs11358680 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA
[Show Flanks]
- Chromosome:
- 11:65921927
(GRCh38)
11:65689398
(GRCh37)
- Canonical SPDI:
- NC_000011.10:65921917:AAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000011.10:65921917:AAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000011.10:65921917:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:65921917:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:65921917:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:65921917:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:65921917:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:65921917:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
- Gene:
- DRAP1 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
A=0./0
(ALSPAC)
A=0./0
(TWINSUK)
- HGVS:
NC_000011.10:g.65921927_65921933del, NC_000011.10:g.65921928_65921933del, NC_000011.10:g.65921929_65921933del, NC_000011.10:g.65921930_65921933del, NC_000011.10:g.65921931_65921933del, NC_000011.10:g.65921932_65921933del, NC_000011.10:g.65921933del, NC_000011.10:g.65921933dup, NC_000011.9:g.65689398_65689404del, NC_000011.9:g.65689399_65689404del, NC_000011.9:g.65689400_65689404del, NC_000011.9:g.65689401_65689404del, NC_000011.9:g.65689402_65689404del, NC_000011.9:g.65689403_65689404del, NC_000011.9:g.65689404del, NC_000011.9:g.65689404dup
16.
rs1482596343 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 11:65919456
(GRCh38)
11:65686927
(GRCh37)
- Canonical SPDI:
- NC_000011.10:65919455:C:G,NC_000011.10:65919455:C:T
- Gene:
- DRAP1 (Varview), C11orf68 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
G=0.000009/1
(GnomAD_exomes)
- HGVS:
17.
rs1482338579 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:65917473
(GRCh38)
11:65684944
(GRCh37)
- Canonical SPDI:
- NC_000011.10:65917472:C:T
- Gene:
- DRAP1 (Varview), C11orf68 (Varview)
- Functional Consequence:
- upstream_transcript_variant,missense_variant,coding_sequence_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
18.
rs1482310444 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 11:65918989
(GRCh38)
11:65686460
(GRCh37)
- Canonical SPDI:
- NC_000011.10:65918988:C:G,NC_000011.10:65918988:C:T
- Gene:
- DRAP1 (Varview), C11orf68 (Varview)
- Functional Consequence:
- upstream_transcript_variant,missense_variant,coding_sequence_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
- HGVS:
NC_000011.10:g.65918989C>G, NC_000011.10:g.65918989C>T, NC_000011.9:g.65686460C>G, NC_000011.9:g.65686460C>T, NM_031450.4:c.43G>C, NM_031450.4:c.43G>A, NM_031450.3:c.43G>C, NM_031450.3:c.43G>A, NM_001135635.2:c.43G>C, NM_001135635.2:c.43G>A, NM_001135635.1:c.43G>C, NM_001135635.1:c.43G>A, NP_113638.2:p.Gly15Arg, NP_113638.2:p.Gly15Ser, NP_001129107.1:p.Gly15Arg, NP_001129107.1:p.Gly15Ser
19.
rs1482253093 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 11:65918755
(GRCh38)
11:65686226
(GRCh37)
- Canonical SPDI:
- NC_000011.10:65918754:C:A
- Gene:
- DRAP1 (Varview), C11orf68 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
20.
rs1482220567 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:65920627
(GRCh38)
11:65688098
(GRCh37)
- Canonical SPDI:
- NC_000011.10:65920626:G:A
- Gene:
- DRAP1 (Varview), C11orf68 (Varview)
- Functional Consequence:
- upstream_transcript_variant,missense_variant,coding_sequence_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: