Links from Nucleotide
Items: 1 to 20 of 1000
1.
rs1491316427 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GCGCACACACACACGC
[Show Flanks]
- Chromosome:
- X:130171940
(GRCh38)
X:129305915
(GRCh37)
- Canonical SPDI:
- NC_000023.11:130171940:CACACACACACGCGCGCACACACACACGC:CACACACACACGCGCGCACACACACACGCGCGCACACACACACGC
- Gene:
- RAB33A (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
CACACACACACGCGCGCACACACACACGCGCGCACACACACACGC=0./0
(
ALFA)
- HGVS:
2.
rs1491061537 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->ACACACACGCGC
[Show Flanks]
- Chromosome:
- X:130171942
(GRCh38)
X:129305917
(GRCh37)
- Canonical SPDI:
- NC_000023.11:130171942:CACACACACGCGC:CACACACACGCGCACACACACGCGC
- Gene:
- RAB33A (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
CACACACACGCGCACACACACGCGC=0./0
(
ALFA)
CACACACACGCG=0.00001/1
(GnomAD)
- HGVS:
3.
rs1490616440 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- X:130181921
(GRCh38)
X:129315895
(GRCh37)
- Canonical SPDI:
- NC_000023.11:130181920:T:G
- Gene:
- RAB33A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.00001/1
(GnomAD)
G=0.000023/6
(TOPMED)
- HGVS:
4.
rs1490353966 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:130171807
(GRCh38)
X:129305781
(GRCh37)
- Canonical SPDI:
- NC_000023.11:130171806:C:T
- Gene:
- RAB33A (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
6.
rs1490101092 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CACT
[Show Flanks]
- Chromosome:
- X:130183193
(GRCh38)
X:129317168
(GRCh37)
- Canonical SPDI:
- NC_000023.11:130183193:CACT:CACTCACT
- Gene:
- RAB33A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CACTCACT=0./0
(
ALFA)
CACT=0.000004/1
(TOPMED)
CACT=0.00001/1
(GnomAD)
- HGVS:
7.
rs1489645926 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:130168460
(GRCh38)
X:129302434
(GRCh37)
- Canonical SPDI:
- NC_000023.11:130168459:C:T
- Gene:
- RAB33A (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000019/2
(GnomAD)
T=0.00003/8
(TOPMED)
- HGVS:
8.
rs1489375242 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:130174241
(GRCh38)
X:129308215
(GRCh37)
- Canonical SPDI:
- NC_000023.11:130174240:C:T
- Gene:
- RAB33A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000045/12
(TOPMED)
T=0.000057/6
(GnomAD)
- HGVS:
9.
rs1489168474 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:130179016
(GRCh38)
X:129312990
(GRCh37)
- Canonical SPDI:
- NC_000023.11:130179015:C:T
- Gene:
- RAB33A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.00001/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
10.
rs1489153996 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- X:130169052
(GRCh38)
X:129303026
(GRCh37)
- Canonical SPDI:
- NC_000023.11:130169051:AAAAAAA:AAAAAA
- Gene:
- RAB33A (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAA=0.000169/2
(
ALFA)
-=0.000108/11
(GnomAD)
-=0.000125/33
(TOPMED)
-=0.000624/3
(1000Genomes)
-=0.00072/9
(TOMMO)
- HGVS:
11.
rs1489141063 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:130180055
(GRCh38)
X:129314029
(GRCh37)
- Canonical SPDI:
- NC_000023.11:130180054:A:G
- Gene:
- RAB33A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.00001/1
(GnomAD)
- HGVS:
12.
rs1489116579 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- X:130180681
(GRCh38)
X:129314655
(GRCh37)
- Canonical SPDI:
- NC_000023.11:130180680:C:A
- Gene:
- RAB33A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000041/4
(GnomAD)
A=0.000064/17
(TOPMED)
- HGVS:
13.
rs1488666027 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- X:130169183
(GRCh38)
X:129303157
(GRCh37)
- Canonical SPDI:
- NC_000023.11:130169182:G:A,NC_000023.11:130169182:G:C
- Gene:
- RAB33A (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.00034/1
(KOREAN)
- HGVS:
14.
rs1488280122 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:130179189
(GRCh38)
X:129313163
(GRCh37)
- Canonical SPDI:
- NC_000023.11:130179188:G:A
- Gene:
- RAB33A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000015/4
(TOPMED)
- HGVS:
15.
rs1488175271 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:130170516
(GRCh38)
X:129304490
(GRCh37)
- Canonical SPDI:
- NC_000023.11:130170515:A:G
- Gene:
- RAB33A (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000224/1
(
ALFA)
G=0.00001/1
(GnomAD)
- HGVS:
16.
rs1488086636 has merged into rs60085312 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- X:130181020
(GRCh38)
X:129314994
(GRCh37)
- Canonical SPDI:
- NC_000023.11:130181007:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000023.11:130181007:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:130181007:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000023.11:130181007:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:130181007:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000023.11:130181007:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:130181007:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000023.11:130181007:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000023.11:130181007:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000023.11:130181007:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000023.11:130181007:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:130181007:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:130181007:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:130181007:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:130181007:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:130181007:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:130181007:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:130181007:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:130181007:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:130181007:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:130181007:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:130181007:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:130181007:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:130181007:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:130181007:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:130181007:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:130181007:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:130181007:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:130181007:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:130181007:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:130181007:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:130181007:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:130181007:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:130181007:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- RAB33A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAA=0./0
(
ALFA)
-=0.000034/9
(TOPMED)
AA=0.475/19
(GENOME_DK)
- HGVS:
NC_000023.11:g.130181020_130181034del, NC_000023.11:g.130181021_130181034del, NC_000023.11:g.130181022_130181034del, NC_000023.11:g.130181023_130181034del, NC_000023.11:g.130181024_130181034del, NC_000023.11:g.130181025_130181034del, NC_000023.11:g.130181026_130181034del, NC_000023.11:g.130181027_130181034del, NC_000023.11:g.130181028_130181034del, NC_000023.11:g.130181029_130181034del, NC_000023.11:g.130181030_130181034del, NC_000023.11:g.130181031_130181034del, NC_000023.11:g.130181032_130181034del, NC_000023.11:g.130181033_130181034del, NC_000023.11:g.130181034del, NC_000023.11:g.130181034dup, NC_000023.11:g.130181033_130181034dup, NC_000023.11:g.130181032_130181034dup, NC_000023.11:g.130181031_130181034dup, NC_000023.11:g.130181030_130181034dup, NC_000023.11:g.130181029_130181034dup, NC_000023.11:g.130181028_130181034dup, NC_000023.11:g.130181026_130181034dup, NC_000023.11:g.130181025_130181034dup, NC_000023.11:g.130181024_130181034dup, NC_000023.11:g.130181023_130181034dup, NC_000023.11:g.130181022_130181034dup, NC_000023.11:g.130181021_130181034dup, NC_000023.11:g.130181020_130181034dup, NC_000023.11:g.130181019_130181034dup, NC_000023.11:g.130181018_130181034dup, NC_000023.11:g.130181017_130181034dup, NC_000023.11:g.130181012_130181034dup, NC_000023.11:g.130181010_130181034dup, NC_000023.10:g.129314994_129315008del, NC_000023.10:g.129314995_129315008del, NC_000023.10:g.129314996_129315008del, NC_000023.10:g.129314997_129315008del, NC_000023.10:g.129314998_129315008del, NC_000023.10:g.129314999_129315008del, NC_000023.10:g.129315000_129315008del, NC_000023.10:g.129315001_129315008del, NC_000023.10:g.129315002_129315008del, NC_000023.10:g.129315003_129315008del, NC_000023.10:g.129315004_129315008del, NC_000023.10:g.129315005_129315008del, NC_000023.10:g.129315006_129315008del, NC_000023.10:g.129315007_129315008del, NC_000023.10:g.129315008del, NC_000023.10:g.129315008dup, NC_000023.10:g.129315007_129315008dup, NC_000023.10:g.129315006_129315008dup, NC_000023.10:g.129315005_129315008dup, NC_000023.10:g.129315004_129315008dup, NC_000023.10:g.129315003_129315008dup, NC_000023.10:g.129315002_129315008dup, NC_000023.10:g.129315000_129315008dup, NC_000023.10:g.129314999_129315008dup, NC_000023.10:g.129314998_129315008dup, NC_000023.10:g.129314997_129315008dup, NC_000023.10:g.129314996_129315008dup, NC_000023.10:g.129314995_129315008dup, NC_000023.10:g.129314994_129315008dup, NC_000023.10:g.129314993_129315008dup, NC_000023.10:g.129314992_129315008dup, NC_000023.10:g.129314991_129315008dup, NC_000023.10:g.129314986_129315008dup, NC_000023.10:g.129314984_129315008dup, NG_012558.1:g.14222_14236del, NG_012558.1:g.14223_14236del, NG_012558.1:g.14224_14236del, NG_012558.1:g.14225_14236del, NG_012558.1:g.14226_14236del, NG_012558.1:g.14227_14236del, NG_012558.1:g.14228_14236del, NG_012558.1:g.14229_14236del, NG_012558.1:g.14230_14236del, NG_012558.1:g.14231_14236del, NG_012558.1:g.14232_14236del, NG_012558.1:g.14233_14236del, NG_012558.1:g.14234_14236del, NG_012558.1:g.14235_14236del, NG_012558.1:g.14236del, NG_012558.1:g.14236dup, NG_012558.1:g.14235_14236dup, NG_012558.1:g.14234_14236dup, NG_012558.1:g.14233_14236dup, NG_012558.1:g.14232_14236dup, NG_012558.1:g.14231_14236dup, NG_012558.1:g.14230_14236dup, NG_012558.1:g.14228_14236dup, NG_012558.1:g.14227_14236dup, NG_012558.1:g.14226_14236dup, NG_012558.1:g.14225_14236dup, NG_012558.1:g.14224_14236dup, NG_012558.1:g.14223_14236dup, NG_012558.1:g.14222_14236dup, NG_012558.1:g.14221_14236dup, NG_012558.1:g.14220_14236dup, NG_012558.1:g.14219_14236dup, NG_012558.1:g.14214_14236dup, NG_012558.1:g.14212_14236dup
18.
rs1487816252 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:130168029
(GRCh38)
X:129302003
(GRCh37)
- Canonical SPDI:
- NC_000023.11:130168028:T:C
- Gene:
- RAB33A (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000142/2
(
ALFA)
C=0.00004/4
(GnomAD)
C=0.000042/11
(TOPMED)
- HGVS:
19.
rs1487788918 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:130174152
(GRCh38)
X:129308126
(GRCh37)
- Canonical SPDI:
- NC_000023.11:130174151:C:T
- Gene:
- RAB33A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0./0
(GnomAD)
- HGVS:
20.
rs1487744154 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:130169085
(GRCh38)
X:129303059
(GRCh37)
- Canonical SPDI:
- NC_000023.11:130169084:G:A
- Gene:
- RAB33A (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000026/7
(TOPMED)
A=0.000039/4
(GnomAD)
- HGVS: