Links from Gene
Items: 1 to 20 of 4371
1.
rs1490954013 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:16205574
(GRCh38)
1:16532069
(GRCh37)
- Canonical SPDI:
- NC_000001.11:16205573:G:A
- Gene:
- ARHGEF19 (Varview)
- Functional Consequence:
- intron_variant,synonymous_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
2.
rs1490548951 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 1:16209720
(GRCh38)
1:16536215
(GRCh37)
- Canonical SPDI:
- NC_000001.11:16209719:C:A
- Gene:
- ARHGEF19 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
3.
rs1490380108 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:16203354
(GRCh38)
1:16529849
(GRCh37)
- Canonical SPDI:
- NC_000001.11:16203353:A:G
- Gene:
- ARHGEF19 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000029/4
(GnomAD)
- HGVS:
4.
rs1489971913 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:16208190
(GRCh38)
1:16534685
(GRCh37)
- Canonical SPDI:
- NC_000001.11:16208189:G:A
- Gene:
- ARHGEF19 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
NC_000001.11:g.16208190G>A, NC_000001.10:g.16534685G>A, NW_025791756.1:g.12327G>A, NM_153213.5:c.448C>T, NM_153213.4:c.448C>T, NM_153213.3:c.448C>T, XM_011540706.4:c.448C>T, XM_011540706.3:c.448C>T, XM_011540706.2:c.448C>T, XM_011540706.1:c.448C>T, XR_946544.2:n.628C>T, XR_946544.1:n.647C>T, NP_694945.2:p.Pro150Ser, XP_011539008.1:p.Pro150Ser
6.
rs1489650738 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:16211101
(GRCh38)
1:16537596
(GRCh37)
- Canonical SPDI:
- NC_000001.11:16211100:G:A
- Gene:
- ARHGEF19 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
7.
rs1489552890 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 1:16202197
(GRCh38)
1:16528692
(GRCh37)
- Canonical SPDI:
- NC_000001.11:16202196:CT:
- Gene:
- ARHGEF19 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000035/1
(TOMMO)
-=0.000546/1
(Korea1K)
- HGVS:
8.
rs1489399795 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:16209220
(GRCh38)
1:16535715
(GRCh37)
- Canonical SPDI:
- NC_000001.11:16209219:A:G
- Gene:
- ARHGEF19 (Varview)
- Functional Consequence:
- intron_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.
rs1489281283 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:16197548
(GRCh38)
1:16524043
(GRCh37)
- Canonical SPDI:
- NC_000001.11:16197547:A:G
- Gene:
- ARHGEF19 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_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.
rs1489099705 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:16208870
(GRCh38)
1:16535365
(GRCh37)
- Canonical SPDI:
- NC_000001.11:16208869:C:T
- Gene:
- ARHGEF19 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,missense_variant,coding_sequence_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.16208870C>T, NC_000001.10:g.16535365C>T, NW_025791756.1:g.13007C>T, NM_153213.5:c.185G>A, NM_153213.4:c.185G>A, NM_153213.3:c.185G>A, XM_011540706.4:c.185G>A, XM_011540706.3:c.185G>A, XM_011540706.2:c.185G>A, XM_011540706.1:c.185G>A, XR_946544.2:n.365G>A, XR_946544.1:n.384G>A, NP_694945.2:p.Gly62Asp, XP_011539008.1:p.Gly62Asp
11.
rs1489074625 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:16206012
(GRCh38)
1:16532507
(GRCh37)
- Canonical SPDI:
- NC_000001.11:16206011:T:C
- Gene:
- ARHGEF19 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,missense_variant,coding_sequence_variant
- HGVS:
NC_000001.11:g.16206012T>C, NC_000001.10:g.16532507T>C, NW_025791756.1:g.10149T>C, NM_153213.5:c.1370A>G, NM_153213.4:c.1370A>G, NM_153213.3:c.1370A>G, XM_011540706.4:c.1370A>G, XM_011540706.3:c.1370A>G, XM_011540706.2:c.1370A>G, XM_011540706.1:c.1370A>G, XR_946544.2:n.1550A>G, XR_946544.1:n.1569A>G, NP_694945.2:p.Asp457Gly, XP_011539008.1:p.Asp457Gly
12.
rs1489014248 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 1:16206518
(GRCh38)
1:16533013
(GRCh37)
- Canonical SPDI:
- NC_000001.11:16206517:A:T
- Gene:
- ARHGEF19 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
T=0.00008/6
(GnomAD_exomes)
- HGVS:
13.
rs1488998552 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:16200635
(GRCh38)
1:16527130
(GRCh37)
- Canonical SPDI:
- NC_000001.11:16200634:T:C
- Gene:
- ARHGEF19 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
14.
rs1488821898 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 1:16210832
(GRCh38)
1:16537327
(GRCh37)
- Canonical SPDI:
- NC_000001.11:16210831:G:A,NC_000001.11:16210831:G:C
- Gene:
- ARHGEF19 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.000042/11
(TOPMED)
C=0.000142/2
(TOMMO)
C=0.000546/1
(Korea1K)
- HGVS:
15.
rs1488689252 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:16206267
(GRCh38)
1:16532762
(GRCh37)
- Canonical SPDI:
- NC_000001.11:16206266:C:T
- Gene:
- ARHGEF19 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,missense_variant,coding_sequence_variant
- HGVS:
NC_000001.11:g.16206267C>T, NC_000001.10:g.16532762C>T, NW_025791756.1:g.10404C>T, NM_153213.5:c.1211G>A, NM_153213.4:c.1211G>A, NM_153213.3:c.1211G>A, XM_011540706.4:c.1211G>A, XM_011540706.3:c.1211G>A, XM_011540706.2:c.1211G>A, XM_011540706.1:c.1211G>A, XR_946544.2:n.1391G>A, XR_946544.1:n.1410G>A, NP_694945.2:p.Gly404Asp, XP_011539008.1:p.Gly404Asp
17.
rs1488440747 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 1:16206570
(GRCh38)
1:16533065
(GRCh37)
- Canonical SPDI:
- NC_000001.11:16206569:T:C,NC_000001.11:16206569:T:G
- Gene:
- ARHGEF19 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.00006/3
(GnomAD_exomes)
G=0.01232/35
(KOREAN)
- HGVS:
18.
rs1488206166 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 1:16213000
(GRCh38)
1:16539495
(GRCh37)
- Canonical SPDI:
- NC_000001.11:16212997:GAGA:GA
- Gene:
- ARHGEF19 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GAGA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
19.
rs1488047674 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CTGACACC>-
[Show Flanks]
- Chromosome:
- 1:16202197
(GRCh38)
1:16528692
(GRCh37)
- Canonical SPDI:
- NC_000001.11:16202194:CCCTGACACC:CC
- Gene:
- ARHGEF19 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
CC=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
20.
rs1487677460 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:16205223
(GRCh38)
1:16531718
(GRCh37)
- Canonical SPDI:
- NC_000001.11:16205222:C:T
- Gene:
- ARHGEF19 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS: