Links from Gene
Items: 1 to 20 of 2983
1.
rs1490492646 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 11:208754
(GRCh38)
11:208754
(GRCh37)
- Canonical SPDI:
- NC_000011.10:208753:C:A,NC_000011.10:208753:C:G
- Gene:
- BET1L (Varview), RIC8A (Varview), MIR6743 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
NC_000011.10:g.208754C>A, NC_000011.10:g.208754C>G, NC_000011.9:g.208754C>A, NC_000011.9:g.208754C>G, NM_021932.6:c.-101C>A, NM_021932.6:c.-101C>G, NM_021932.5:c.-101C>A, NM_021932.5:c.-101C>G, NM_021932.4:c.-101C>A, NM_021932.4:c.-101C>G, NM_001286134.2:c.-101C>A, NM_001286134.2:c.-101C>G, NM_001286134.1:c.-101C>A, NM_001286134.1:c.-101C>G, NM_001386942.1:c.-527C>A, NM_001386942.1:c.-527C>G, XM_047427393.1:c.-101C>A, XM_047427393.1:c.-101C>G, NM_001386941.1:c.-101C>A, NM_001386941.1:c.-101C>G
2.
rs1490142903 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:209803
(GRCh38)
11:209803
(GRCh37)
- Canonical SPDI:
- NC_000011.10:209802:G:A
- Gene:
- RIC8A (Varview), MIR6743 (Varview)
- Functional Consequence:
- missense_variant,downstream_transcript_variant,coding_sequence_variant,500B_downstream_variant
- Validated:
- by frequency,by cluster
- MAF:
A=0.000004/1
(GnomAD_exomes)
A=0.000035/1
(TOMMO)
- HGVS:
NC_000011.10:g.209803G>A, NC_000011.9:g.209803G>A, NM_021932.6:c.529G>A, NM_021932.5:c.529G>A, NM_021932.4:c.529G>A, NM_001286134.2:c.529G>A, NM_001286134.1:c.529G>A, NM_001386942.1:c.199G>A, XM_047427393.1:c.541G>A, NM_001386941.1:c.541G>A, NP_068751.4:p.Asp177Asn, NP_001273063.1:p.Asp177Asn, NP_001373871.1:p.Asp67Asn, XP_047283349.1:p.Asp181Asn, NP_001373870.1:p.Asp181Asn
3.
rs1490092490 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 11:210600
(GRCh38)
11:210600
(GRCh37)
- Canonical SPDI:
- NC_000011.10:210599:G:T
- Gene:
- RIC8A (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
4.
rs1490077220 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:211605
(GRCh38)
11:211605
(GRCh37)
- Canonical SPDI:
- NC_000011.10:211604:G:A
- Gene:
- RIC8A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
5.
rs1489930871 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:210066
(GRCh38)
11:210066
(GRCh37)
- Canonical SPDI:
- NC_000011.10:210065:C:T
- Gene:
- RIC8A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
7.
rs1489898584 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 11:212954
(GRCh38)
11:212954
(GRCh37)
- Canonical SPDI:
- NC_000011.10:212953:C:A
- Gene:
- RIC8A (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_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_000011.10:g.212954C>A, NC_000011.9:g.212954C>A, NM_021932.6:c.1346C>A, NM_021932.5:c.1346C>A, NM_021932.4:c.1346C>A, NM_001286134.2:c.1328C>A, NM_001286134.1:c.1328C>A, NM_001386942.1:c.998C>A, XM_047427393.1:c.1358C>A, NM_001386941.1:c.1340C>A, NP_068751.4:p.Thr449Lys, NP_001273063.1:p.Thr443Lys, NP_001373871.1:p.Thr333Lys, XP_047283349.1:p.Thr453Lys, NP_001373870.1:p.Thr447Lys
8.
rs1489571952 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 11:212465
(GRCh38)
11:212465
(GRCh37)
- Canonical SPDI:
- NC_000011.10:212464:A:C
- Gene:
- RIC8A (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
C=0.000008/2
(GnomAD_exomes)
- HGVS:
NC_000011.10:g.212465A>C, NC_000011.9:g.212465A>C, NM_021932.6:c.1019A>C, NM_021932.5:c.1019A>C, NM_021932.4:c.1019A>C, NM_001286134.2:c.1019A>C, NM_001286134.1:c.1019A>C, NM_001386942.1:c.689A>C, XM_047427393.1:c.1031A>C, NM_001386941.1:c.1031A>C, NP_068751.4:p.Glu340Ala, NP_001273063.1:p.Glu340Ala, NP_001373871.1:p.Glu230Ala, XP_047283349.1:p.Glu344Ala, NP_001373870.1:p.Glu344Ala
9.
rs1489168111 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 11:207458
(GRCh38)
11:207458
(GRCh37)
- Canonical SPDI:
- NC_000011.10:207457:A:
- Gene:
- BET1L (Varview), RIC8A (Varview), MIR6743 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
10.
rs1489112374 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:207651
(GRCh38)
11:207651
(GRCh37)
- Canonical SPDI:
- NC_000011.10:207650:C:T
- Gene:
- BET1L (Varview), RIC8A (Varview), MIR6743 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000198/3
(
ALFA)
T=0.000021/3
(GnomAD)
T=0.00067/3
(Estonian)
- HGVS:
11.
rs1488559819 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:211693
(GRCh38)
11:211693
(GRCh37)
- Canonical SPDI:
- NC_000011.10:211692:G:A
- Gene:
- RIC8A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
13.
rs1488143642 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 11:208701
(GRCh38)
11:208701
(GRCh37)
- Canonical SPDI:
- NC_000011.10:208700:C:G
- Gene:
- BET1L (Varview), RIC8A (Varview), MIR6743 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
14.
rs1488016548 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:205740
(GRCh38)
11:205740
(GRCh37)
- Canonical SPDI:
- NC_000011.10:205739:A:G
- Gene:
- BET1L (Varview), RIC8A (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
15.
rs1487913048 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:212492
(GRCh38)
11:212492
(GRCh37)
- Canonical SPDI:
- NC_000011.10:212491:G:A
- Gene:
- RIC8A (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
NC_000011.10:g.212492G>A, NC_000011.9:g.212492G>A, NM_021932.6:c.1046G>A, NM_021932.5:c.1046G>A, NM_021932.4:c.1046G>A, NM_001286134.2:c.1046G>A, NM_001286134.1:c.1046G>A, NM_001386942.1:c.716G>A, XM_047427393.1:c.1058G>A, NM_001386941.1:c.1058G>A, NP_068751.4:p.Arg349Lys, NP_001273063.1:p.Arg349Lys, NP_001373871.1:p.Arg239Lys, XP_047283349.1:p.Arg353Lys, NP_001373870.1:p.Arg353Lys
17.
rs1487830708 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:206642
(GRCh38)
11:206642
(GRCh37)
- Canonical SPDI:
- NC_000011.10:206641:C:T
- Gene:
- BET1L (Varview), RIC8A (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
18.
rs1487472991 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 11:208665
(GRCh38)
11:208665
(GRCh37)
- Canonical SPDI:
- NC_000011.10:208664:A:G,NC_000011.10:208664:A:T
- Gene:
- BET1L (Varview), RIC8A (Varview), MIR6743 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000014/2
(GnomAD)
G=0.000035/1
(TOMMO)
T=0.000546/1
(Korea1K)
- HGVS:
NC_000011.10:g.208665A>G, NC_000011.10:g.208665A>T, NC_000011.9:g.208665A>G, NC_000011.9:g.208665A>T, NM_021932.6:c.-190A>G, NM_021932.6:c.-190A>T, NM_021932.5:c.-190A>G, NM_021932.5:c.-190A>T, NM_021932.4:c.-190A>G, NM_021932.4:c.-190A>T, NM_001286134.2:c.-190A>G, NM_001286134.2:c.-190A>T, NM_001286134.1:c.-190A>G, NM_001286134.1:c.-190A>T, NM_001386942.1:c.-616A>G, NM_001386942.1:c.-616A>T, XM_047427393.1:c.-190A>G, XM_047427393.1:c.-190A>T, NM_001386941.1:c.-190A>G, NM_001386941.1:c.-190A>T
19.
rs1487453539 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:206830
(GRCh38)
11:206830
(GRCh37)
- Canonical SPDI:
- NC_000011.10:206829:A:G
- Gene:
- BET1L (Varview), RIC8A (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
20.
rs1487152373 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 11:211179
(GRCh38)
11:211179
(GRCh37)
- Canonical SPDI:
- NC_000011.10:211178:C:G,NC_000011.10:211178:C:T
- Gene:
- RIC8A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
G=0.000004/1
(GnomAD_exomes)
- HGVS: