Links from Gene
Items: 1 to 20 of 1188
1.
rs1490666267 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 13:111116693
(GRCh38)
13:111769040
(GRCh37)
- Canonical SPDI:
- NC_000013.11:111116692:G:T
- Gene:
- ARHGEF7 (Varview), ARHGEF7-AS2 (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./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
2.
rs1488815566 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 13:111115909
(GRCh38)
13:111768256
(GRCh37)
- Canonical SPDI:
- NC_000013.11:111115908:G:A
- Gene:
- ARHGEF7 (Varview), ARHGEF7-AS2 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000022/3
(GnomAD)
- HGVS:
3.
rs1488172179 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 13:111113470
(GRCh38)
13:111765817
(GRCh37)
- Canonical SPDI:
- NC_000013.11:111113469:T:C
- Gene:
- ARHGEF7 (Varview), ARHGEF7-AS2 (Varview)
- Functional Consequence:
- 500B_downstream_variant,2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
4.
rs1487685882 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 13:111113763
(GRCh38)
13:111766110
(GRCh37)
- Canonical SPDI:
- NC_000013.11:111113762:G:T
- Gene:
- ARHGEF7 (Varview), ARHGEF7-AS2 (Varview)
- Functional Consequence:
- 500B_downstream_variant,2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
- HGVS:
5.
rs1486905036 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 13:111117249
(GRCh38)
13:111769596
(GRCh37)
- Canonical SPDI:
- NC_000013.11:111117248:A:T
- Gene:
- ARHGEF7 (Varview), ARHGEF7-AS2 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
6.
rs1486701907 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 13:111114274
(GRCh38)
13:111766621
(GRCh37)
- Canonical SPDI:
- NC_000013.11:111114273:G:A
- Gene:
- ARHGEF7 (Varview), ARHGEF7-AS2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_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)
- HGVS:
7.
rs1486379258 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CAT>-
[Show Flanks]
- Chromosome:
- 13:111117268
(GRCh38)
13:111769615
(GRCh37)
- Canonical SPDI:
- NC_000013.11:111117265:ATCAT:AT
- Gene:
- ARHGEF7 (Varview), ARHGEF7-AS2 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AT=0.000071/1
(
ALFA)
-=0.000011/3
(TOPMED)
-=0.000021/3
(GnomAD)
- HGVS:
8.
rs1485499422 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 13:111115339
(GRCh38)
13:111767686
(GRCh37)
- Canonical SPDI:
- NC_000013.11:111115338:G:A
- Gene:
- ARHGEF7 (Varview), ARHGEF7-AS2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000015/2
(GnomAD)
A=0.000023/6
(TOPMED)
- HGVS:
NC_000013.11:g.111115339G>A, NC_000013.10:g.111767686G>A, XM_006719956.4:c.-188G>A, NM_145735.3:c.-188G>A, NM_145735.2:c.-188G>A, XM_011521133.3:c.-188G>A, NM_001113511.2:c.-188G>A, NM_001113511.1:c.-188G>A, NM_001113512.2:c.-188G>A, NM_001113512.1:c.-188G>A, XM_017020815.2:c.-188G>A, XM_017020815.1:c.-188G>A, NM_001354046.2:c.-188G>A, NM_001354046.1:c.-188G>A, XM_047430722.1:c.-188G>A, XM_047430723.1:c.-188G>A, XM_047430724.1:c.-188G>A, NM_001320852.1:c.-188G>A, XM_047430726.1:c.-188G>A, NM_001354047.1:c.-188G>A, XM_047430728.1:c.-188G>A, XM_047430729.1:c.-188G>A, XM_047430732.1:c.-188G>A, XR_007063704.1:n.721G>A
9.
rs1484812991 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 13:111114819
(GRCh38)
13:111767166
(GRCh37)
- Canonical SPDI:
- NC_000013.11:111114818:C:T
- Gene:
- ARHGEF7 (Varview), ARHGEF7-AS2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,5_prime_UTR_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:
NC_000013.11:g.111114819C>T, NC_000013.10:g.111767166C>T, XM_006719956.4:c.-708C>T, NM_145735.3:c.-708C>T, XM_011521133.3:c.-708C>T, NM_001113511.2:c.-708C>T, NM_001113512.2:c.-708C>T, XM_017020815.2:c.-708C>T, XM_047430722.1:c.-708C>T, NM_001354046.1:c.-708C>T, XM_047430723.1:c.-708C>T, XM_047430724.1:c.-708C>T, NM_001320852.1:c.-708C>T, XM_047430726.1:c.-708C>T, NM_001354047.1:c.-708C>T, XM_047430728.1:c.-708C>T, XM_047430729.1:c.-708C>T, XM_047430732.1:c.-708C>T, NM_001354048.1:c.-545C>T, NM_001354056.1:c.-329C>T, XR_007063704.1:n.201C>T, NR_046667.1:n.232G>A
10.
rs1484803579 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 13:111115037
(GRCh38)
13:111767384
(GRCh37)
- Canonical SPDI:
- NC_000013.11:111115036:C:A
- Gene:
- ARHGEF7 (Varview), ARHGEF7-AS2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
NC_000013.11:g.111115037C>A, NC_000013.10:g.111767384C>A, XM_006719956.4:c.-490C>A, NM_145735.3:c.-490C>A, XM_011521133.3:c.-490C>A, NM_001113511.2:c.-490C>A, NM_001113512.2:c.-490C>A, XM_017020815.2:c.-490C>A, XM_047430722.1:c.-490C>A, NM_001354046.1:c.-490C>A, XM_047430723.1:c.-490C>A, XM_047430724.1:c.-490C>A, NM_001320852.1:c.-490C>A, XM_047430726.1:c.-490C>A, NM_001354047.1:c.-490C>A, XM_047430728.1:c.-490C>A, XM_047430729.1:c.-490C>A, XM_047430732.1:c.-490C>A, NM_001354048.1:c.-327C>A, NM_001354056.1:c.-111C>A, XR_007063704.1:n.419C>A
11.
rs1484401095 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 13:111115431
(GRCh38)
13:111767778
(GRCh37)
- Canonical SPDI:
- NC_000013.11:111115430:G:A
- Gene:
- ARHGEF7 (Varview), ARHGEF7-AS2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000015/2
(GnomAD)
- HGVS:
NC_000013.11:g.111115431G>A, NC_000013.10:g.111767778G>A, XM_006719956.4:c.-96G>A, NM_145735.3:c.-96G>A, NM_145735.2:c.-96G>A, XM_011521133.3:c.-96G>A, NM_001113511.2:c.-96G>A, NM_001113511.1:c.-96G>A, NM_001113512.2:c.-96G>A, NM_001113512.1:c.-96G>A, XM_017020815.2:c.-96G>A, XM_017020815.1:c.-96G>A, NM_001354046.2:c.-96G>A, NM_001354046.1:c.-96G>A, XM_047430722.1:c.-96G>A, XM_047430723.1:c.-96G>A, XM_047430724.1:c.-96G>A, NM_001320852.1:c.-96G>A, XM_047430726.1:c.-96G>A, NM_001354047.1:c.-96G>A, XM_047430728.1:c.-96G>A, XM_047430729.1:c.-96G>A, XM_047430732.1:c.-96G>A, XR_007063704.1:n.813G>A
12.
rs1484010295 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 13:111115793
(GRCh38)
13:111768140
(GRCh37)
- Canonical SPDI:
- NC_000013.11:111115792:T:G
- Gene:
- ARHGEF7 (Varview), ARHGEF7-AS2 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000156/1
(1000Genomes)
- HGVS:
13.
rs1483486604 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 13:111116467
(GRCh38)
13:111768814
(GRCh37)
- Canonical SPDI:
- NC_000013.11:111116466:G:A,NC_000013.11:111116466:G:C
- Gene:
- ARHGEF7 (Varview), ARHGEF7-AS2 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000035/1
(TOMMO)
- HGVS:
14.
rs1483396581 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 13:111113665
(GRCh38)
13:111766012
(GRCh37)
- Canonical SPDI:
- NC_000013.11:111113664:C:A,NC_000013.11:111113664:C:T
- Gene:
- ARHGEF7 (Varview), ARHGEF7-AS2 (Varview)
- Functional Consequence:
- 500B_downstream_variant,2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
16.
rs1482848912 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 13:111116288
(GRCh38)
13:111768635
(GRCh37)
- Canonical SPDI:
- NC_000013.11:111116287:C:T
- Gene:
- ARHGEF7 (Varview), ARHGEF7-AS2 (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./0
(
ALFA)
T=0.000009/1
(GnomAD)
T=0.000225/1
(Estonian)
- HGVS:
17.
rs1482442197 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 13:111117000
(GRCh38)
13:111769347
(GRCh37)
- Canonical SPDI:
- NC_000013.11:111116999:G:C
- Gene:
- ARHGEF7 (Varview), ARHGEF7-AS2 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_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:
18.
rs1481432859 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 13:111114560
(GRCh38)
13:111766907
(GRCh37)
- Canonical SPDI:
- NC_000013.11:111114559:C:T
- Gene:
- ARHGEF7 (Varview), ARHGEF7-AS2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
19.
rs1480773408 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 13:111116767
(GRCh38)
13:111769114
(GRCh37)
- Canonical SPDI:
- NC_000013.11:111116766:T:G
- Gene:
- ARHGEF7 (Varview), ARHGEF7-AS2 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_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:
20.
rs1480768314 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 13:111116698
(GRCh38)
13:111769045
(GRCh37)
- Canonical SPDI:
- NC_000013.11:111116697:C:A
- Gene:
- ARHGEF7 (Varview), ARHGEF7-AS2 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000066/1
(
ALFA)
A=0.000057/8
(GnomAD)
A=0.000223/1
(Estonian)
- HGVS: