Links from Gene
Items: 1 to 20 of 1623
1.
rs1490892150 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:174995637
(GRCh38)
1:174964774
(GRCh37)
- Canonical SPDI:
- NC_000001.11:174995636:G:A
- Gene:
- RABGAP1L (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS:
2.
rs1490492500 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:174999300
(GRCh38)
1:174968437
(GRCh37)
- Canonical SPDI:
- NC_000001.11:174999299:C:T
- Gene:
- CACYBP (Varview), LOC105371622 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_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:
3.
rs1490180620 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 1:175000434
(GRCh38)
1:174969570
(GRCh37)
- Canonical SPDI:
- NC_000001.11:175000433:G:C
- Gene:
- CACYBP (Varview), LOC105371622 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
4.
rs1489764692 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:175000033
(GRCh38)
1:174969169
(GRCh37)
- Canonical SPDI:
- NC_000001.11:175000032:A:G
- Gene:
- CACYBP (Varview), LOC105371622 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000036/5
(GnomAD)
- HGVS:
5.
rs1489584889 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GTA
[Show Flanks]
- Chromosome:
- 1:175000819
(GRCh38)
1:174969956
(GRCh37)
- Canonical SPDI:
- NC_000001.11:175000819:GTA:GTAGTA
- Gene:
- CACYBP (Varview), LOC105371622 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTAGTA=0.000071/1
(
ALFA)
GTA=0.000057/8
(GnomAD)
GTA=0.000079/21
(TOPMED)
- HGVS:
7.
rs1488887741 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 1:174996369
(GRCh38)
1:174965507
(GRCh37)
- Canonical SPDI:
- NC_000001.11:174996369:C:CC
- Validated:
- by frequency,by alfa
- MAF:
CC=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
8.
rs1488788654 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 1:174999974
(GRCh38)
1:174969110
(GRCh37)
- Canonical SPDI:
- NC_000001.11:174999973:G:A,NC_000001.11:174999973:G:T
- Gene:
- CACYBP (Varview), LOC105371622 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.00006/1
(TOMMO)
- HGVS:
9.
rs1487778107 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 1:174998527
(GRCh38)
1:174967664
(GRCh37)
- Canonical SPDI:
- NC_000001.11:174998526:G:A,NC_000001.11:174998526:G:T
- Gene:
- CACYBP (Varview), LOC105371622 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
10.
rs1487669336 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 1:174998767
(GRCh38)
1:174967905
(GRCh37)
- Canonical SPDI:
- NC_000001.11:174998767::G
- Gene:
- CACYBP (Varview), LOC105371622 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
11.
rs1487547960 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 1:175000838
(GRCh38)
1:174969974
(GRCh37)
- Canonical SPDI:
- NC_000001.11:175000837:G:A,NC_000001.11:175000837:G:C
- Gene:
- CACYBP (Varview), LOC105371622 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
12.
rs1487190619 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G,T
[Show Flanks]
- Chromosome:
- 1:175000344
(GRCh38)
1:174969480
(GRCh37)
- Canonical SPDI:
- NC_000001.11:175000343:A:C,NC_000001.11:175000343:A:G,NC_000001.11:175000343:A:T
- Gene:
- CACYBP (Varview), LOC105371622 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
13.
rs1487005202 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 1:175001124
(GRCh38)
1:174970260
(GRCh37)
- Canonical SPDI:
- NC_000001.11:175001123:G:C
- Gene:
- CACYBP (Varview), LOC105371622 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
14.
rs1486652537 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:174995085
(GRCh38)
1:174964222
(GRCh37)
- Canonical SPDI:
- NC_000001.11:174995084:C:T
- Gene:
- RABGAP1L (Varview)
- Functional Consequence:
- non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
NC_000001.11:g.174995085C>T, NC_000001.10:g.174964222C>T, NG_029961.1:g.652C>T, XM_011510223.3:c.*5084C>T, XM_011510223.1:c.*5084C>T, XM_005245681.3:c.*5084C>T, XM_005245681.1:c.*5084C>T, NM_001330989.2:c.*5084C>T, NM_001330989.1:c.*5084C>T, NM_001243765.2:c.*5084C>T, NM_001243765.1:c.*5084C>T, NM_001243764.2:c.*5084C>T, NM_001243764.1:c.*5084C>T, NR_158982.1:n.8625C>T, NM_001366446.1:c.*5084C>T, XM_047436028.1:c.*5084C>T, NM_001366448.1:c.*5084C>T, XM_047436039.1:c.*5084C>T, NM_001366451.1:c.*5084C>T, NM_001366454.1:c.*5084C>T, NM_001366456.1:c.*5084C>T, NM_001366450.1:c.*5084C>T, XM_047436057.1:c.*5084C>T, XM_047436056.1:c.*5084C>T, NM_001366452.1:c.*5084C>T, XM_047436058.1:c.*5084C>T, XM_047436059.1:c.*5084C>T, NM_001366457.1:c.*5084C>T
15.
rs1485796971 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 1:174996101
(GRCh38)
1:174965238
(GRCh37)
- Canonical SPDI:
- NC_000001.11:174996100:A:C
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
16.
rs1485491572 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:174996582
(GRCh38)
1:174965719
(GRCh37)
- Canonical SPDI:
- NC_000001.11:174996581:C:T
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
17.
rs1485423856 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:174999773
(GRCh38)
1:174968909
(GRCh37)
- Canonical SPDI:
- NC_000001.11:174999772:C:T
- Gene:
- CACYBP (Varview), LOC105371622 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0./0
(KOREAN)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
18.
rs1485134334 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 1:174996224
(GRCh38)
1:174965361
(GRCh37)
- Canonical SPDI:
- NC_000001.11:174996223:G:C
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
19.
rs1484175513 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 1:174997427
(GRCh38)
1:174966564
(GRCh37)
- Canonical SPDI:
- NC_000001.11:174997426:G:C
- Gene:
- LOC105371622 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS: