Links from Gene
Items: 1 to 20 of 7786
1.
rs1491365080 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 12:56167950
(GRCh38)
12:56561735
(GRCh37)
- Canonical SPDI:
- NC_000012.12:56167950::C
- Gene:
- SMARCC2 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency
- MAF:
C=0.00008/7
(GnomAD)
- HGVS:
2.
rs1491339561 has merged into rs780563273 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 12:56186137
(GRCh38)
12:56579922
(GRCh37)
- Canonical SPDI:
- NC_000012.12:56186137:A:AA
- Gene:
- SMARCC2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0.000071/1
(
ALFA)
A=0./0
(ALSPAC)
A=0.000021/3
(GnomAD)
A=0.000072/18
(GnomAD_exomes)
A=0.000091/11
(ExAC)
A=0.00027/1
(TWINSUK)
- HGVS:
3.
rs1491284258 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,AAAA
[Show Flanks]
- Chromosome:
- 12:56167951
(GRCh38)
12:56561735
(GRCh37)
- Canonical SPDI:
- NC_000012.12:56167949:AAA:A,NC_000012.12:56167949:AAA:AAAAA
- Gene:
- SMARCC2 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0.00002/1
(GnomAD)
-=0.00004/1
(TOMMO)
- HGVS:
4.
rs1491125864 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GC>-
[Show Flanks]
- Chromosome:
- 12:56168000
(GRCh38)
12:56561784
(GRCh37)
- Canonical SPDI:
- NC_000012.12:56167998:CGC:C
- Gene:
- SMARCC2 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
-=0.000035/1
(TOMMO)
-=0.000051/6
(GnomAD)
- HGVS:
7.
rs1490860882 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 12:56183541
(GRCh38)
12:56577325
(GRCh37)
- Canonical SPDI:
- NC_000012.12:56183540:A:C,NC_000012.12:56183540:A:G
- Gene:
- SMARCC2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
8.
rs1490762054 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CC>-
[Show Flanks]
- Chromosome:
- 12:56190691
(GRCh38)
12:56584475
(GRCh37)
- Canonical SPDI:
- NC_000012.12:56190690:CC:
- Gene:
- SMARCC2 (Varview), LOC107984468 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS:
9.
rs1490733685 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 12:56176536
(GRCh38)
12:56570320
(GRCh37)
- Canonical SPDI:
- NC_000012.12:56176535:G:C
- Gene:
- SMARCC2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000011/3
(TOPMED)
- HGVS:
10.
rs1490654934 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:56189306
(GRCh38)
12:56583090
(GRCh37)
- Canonical SPDI:
- NC_000012.12:56189305:T:C
- Gene:
- SMARCC2 (Varview), LOC107984468 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
C=0.000006/1
(GnomAD_exomes)
- HGVS:
11.
rs1490275895 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:56191230
(GRCh38)
12:56585014
(GRCh37)
- Canonical SPDI:
- NC_000012.12:56191229:T:C
- Gene:
- SMARCC2 (Varview), LOC107984468 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000035/1
(TOMMO)
- HGVS:
12.
rs1490126026 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 12:56176768
(GRCh38)
12:56570552
(GRCh37)
- Canonical SPDI:
- NC_000012.12:56176767:C:G
- Gene:
- SMARCC2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
- HGVS:
13.
rs1490089663 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 12:56171640
(GRCh38)
12:56565424
(GRCh37)
- Canonical SPDI:
- NC_000012.12:56171639:A:C
- Gene:
- SMARCC2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
14.
rs1490079778 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:56178457
(GRCh38)
12:56572241
(GRCh37)
- Canonical SPDI:
- NC_000012.12:56178456:T:C
- Gene:
- SMARCC2 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000028/1
(
ALFA)
C=0.000021/3
(GnomAD)
C=0.000028/7
(GnomAD_exomes)
C=0.000038/10
(TOPMED)
- HGVS:
NC_000012.12:g.56178457T>C, NC_000012.11:g.56572241T>C, NG_047081.1:g.16111A>G, NM_003075.5:c.1257A>G, NM_003075.4:c.1257A>G, NM_003075.3:c.1257A>G, NM_139067.4:c.1257A>G, NM_139067.3:c.1257A>G, NM_139067.2:c.1257A>G, NM_001130420.3:c.1257A>G, NM_001130420.2:c.1257A>G, NM_001130420.1:c.1257A>G, NM_001330288.2:c.1257A>G, NM_001330288.1:c.1257A>G, XM_005269102.3:c.1257A>G, XM_005269102.2:c.1257A>G, XM_005269102.1:c.1257A>G, XM_005269103.3:c.1257A>G, XM_005269103.2:c.1257A>G, XM_005269103.1:c.1257A>G, XM_005269104.2:c.1257A>G, XM_005269104.1:c.1257A>G, XM_017019884.2:c.1257A>G, XM_017019884.1:c.1257A>G, XM_017019885.2:c.1257A>G, XM_017019885.1:c.1257A>G, XM_017019886.2:c.1257A>G, XM_017019886.1:c.1257A>G, XM_047429447.1:c.1257A>G, XM_047429448.1:c.1257A>G, XM_047429449.1:c.1257A>G
15.
rs1489878626 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:56184762
(GRCh38)
12:56578546
(GRCh37)
- Canonical SPDI:
- NC_000012.12:56184761:A:G
- Gene:
- SMARCC2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
16.
rs1489778440 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 12:56172770
(GRCh38)
12:56566554
(GRCh37)
- Canonical SPDI:
- NC_000012.12:56172769:G:A,NC_000012.12:56172769:G:C
- Gene:
- SMARCC2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
17.
rs1489716096 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:56177118
(GRCh38)
12:56570902
(GRCh37)
- Canonical SPDI:
- NC_000012.12:56177117:G:A
- Gene:
- SMARCC2 (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:
19.
rs1489441169 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 12:56167095
(GRCh38)
12:56560879
(GRCh37)
- Canonical SPDI:
- NC_000012.12:56167094:G:C
- Gene:
- SMARCC2 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000224/1
(
ALFA)
C=0.000022/3
(GnomAD)
C=0.000223/1
(Estonian)
- HGVS:
20.
rs1489403916 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:56178214
(GRCh38)
12:56571998
(GRCh37)
- Canonical SPDI:
- NC_000012.12:56178213:C:T
- Gene:
- SMARCC2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS: