Links from Gene
Items: 1 to 20 of 7998
1.
rs1490942280 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:3455337
(GRCh38)
1:3371901
(GRCh37)
- Canonical SPDI:
- NC_000001.11:3455336:C:T
- Gene:
- ARHGEF16 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
2.
rs1490747378 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 1:3470098
(GRCh38)
1:3386662
(GRCh37)
- Canonical SPDI:
- NC_000001.11:3470097:G:C
- Gene:
- ARHGEF16 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000071/1
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
3.
rs1490599466 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:3455706
(GRCh38)
1:3372270
(GRCh37)
- Canonical SPDI:
- NC_000001.11:3455705:A:G
- Gene:
- ARHGEF16 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
- HGVS:
4.
rs1490418737 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:3461373
(GRCh38)
1:3377937
(GRCh37)
- Canonical SPDI:
- NC_000001.11:3461372:T:C
- Gene:
- ARHGEF16 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
5.
rs1490352518 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:3462106
(GRCh38)
1:3378670
(GRCh37)
- Canonical SPDI:
- NC_000001.11:3462105:G:A
- Gene:
- ARHGEF16 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
6.
rs1490328069 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:3472229
(GRCh38)
1:3388793
(GRCh37)
- Canonical SPDI:
- NC_000001.11:3472228:C:T
- Gene:
- ARHGEF16 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000023/6
(TOPMED)
T=0.000672/11
(TOMMO)
- HGVS:
7.
rs1490256055 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:3469177
(GRCh38)
1:3385741
(GRCh37)
- Canonical SPDI:
- NC_000001.11:3469176:C:T
- Gene:
- ARHGEF16 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
8.
rs1489981375 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TGTG>-,TG
[Show Flanks]
- Chromosome:
- 1:3470126
(GRCh38)
1:3386690
(GRCh37)
- Canonical SPDI:
- NC_000001.11:3470118:GTGTGTGTGTG:GTGTGTG,NC_000001.11:3470118:GTGTGTGTGTG:GTGTGTGTG
- Gene:
- ARHGEF16 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTGTGTG=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000014/2
(GnomAD)
-=0.000156/1
(1000Genomes)
- HGVS:
9.
rs1489788224 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 1:3478497
(GRCh38)
1:3395061
(GRCh37)
- Canonical SPDI:
- NC_000001.11:3478496:C:A
- Gene:
- ARHGEF16 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000001.11:g.3478497C>A, NC_000001.10:g.3395061C>A, NM_014448.4:c.1699C>A, NM_014448.3:c.1699C>A, XM_017001049.2:c.1750C>A, XM_017001049.1:c.1750C>A, XM_017001051.2:c.1699C>A, XM_017001051.1:c.1699C>A, XM_024446454.2:c.835C>A, XM_024446454.1:c.835C>A, XM_024446455.2:c.835C>A, XM_024446455.1:c.835C>A, NP_055263.2:p.Leu567Ile, XP_016856538.1:p.Leu584Ile, XP_016856540.1:p.Leu567Ile, XP_024302222.1:p.Leu279Ile, XP_024302223.1:p.Leu279Ile
10.
rs1489733477 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:3475010
(GRCh38)
1:3391574
(GRCh37)
- Canonical SPDI:
- NC_000001.11:3475009:G:A
- Gene:
- ARHGEF16 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
11.
rs1489581878 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 1:3455990
(GRCh38)
1:3372554
(GRCh37)
- Canonical SPDI:
- NC_000001.11:3455989:A:C
- Gene:
- ARHGEF16 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
- HGVS:
12.
rs1489489503 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 1:3463130
(GRCh38)
1:3379694
(GRCh37)
- Canonical SPDI:
- NC_000001.11:3463129:G:C
- Gene:
- ARHGEF16 (Varview)
- Functional Consequence:
- missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
- HGVS:
NC_000001.11:g.3463130G>C, NC_000001.10:g.3379694G>C, NM_014448.4:c.46G>C, NM_014448.3:c.46G>C, XM_017001049.2:c.97G>C, XM_017001049.1:c.97G>C, XM_017001051.2:c.46G>C, XM_017001051.1:c.46G>C, XM_047418009.1:c.97G>C, NP_055263.2:p.Gly16Arg, XP_016856538.1:p.Gly33Arg, XP_016856540.1:p.Gly16Arg, XP_047273965.1:p.Gly33Arg
13.
rs1489466516 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CG>-
[Show Flanks]
- Chromosome:
- 1:3454103
(GRCh38)
1:3370667
(GRCh37)
- Canonical SPDI:
- NC_000001.11:3454101:GCG:G
- Gene:
- ARHGEF16 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency
- MAF:
-=0.000007/1
(GnomAD)
- HGVS:
14.
rs1489462402 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:3475861
(GRCh38)
1:3392425
(GRCh37)
- Canonical SPDI:
- NC_000001.11:3475860:T:C
- Gene:
- ARHGEF16 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
15.
rs1489240319 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 1:3453108
(GRCh38)
1:3369672
(GRCh37)
- Canonical SPDI:
- NC_000001.11:3453107:T:G
- Gene:
- ARHGEF16 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
16.
rs1488968887 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 1:3475927
(GRCh38)
1:3392492
(GRCh37)
- Canonical SPDI:
- NC_000001.11:3475927:CCC:CCCC
- Gene:
- ARHGEF16 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
CCCC=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
- HGVS:
17.
rs1488946049 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:3462780
(GRCh38)
1:3379344
(GRCh37)
- Canonical SPDI:
- NC_000001.11:3462779:C:T
- Gene:
- ARHGEF16 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_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:
18.
rs1488867950 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 1:3466078
(GRCh38)
1:3382642
(GRCh37)
- Canonical SPDI:
- NC_000001.11:3466077:GGG:GG
- Gene:
- ARHGEF16 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
GG=0./0
(
ALFA)
-=0.000019/5
(TOPMED)
- HGVS:
19.
rs1488754223 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:3480780
(GRCh38)
1:3397344
(GRCh37)
- Canonical SPDI:
- NC_000001.11:3480779:C:T
- Gene:
- ARHGEF16 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
NC_000001.11:g.3480780C>T, NC_000001.10:g.3397344C>T, NM_014448.4:c.*193C>T, NM_014448.3:c.*193C>T, XM_017001049.2:c.*193C>T, XM_017001049.1:c.*193C>T, XM_017001051.2:c.*193C>T, XM_017001051.1:c.*193C>T, XM_024446454.2:c.*193C>T, XM_024446454.1:c.*193C>T, XM_024446455.2:c.*193C>T, XM_024446455.1:c.*193C>T
20.
rs1488750776 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 1:3467728
(GRCh38)
1:3384292
(GRCh37)
- Canonical SPDI:
- NC_000001.11:3467727:C:A,NC_000001.11:3467727:C:T
- Gene:
- ARHGEF16 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS: