Links from Gene
Items: 1 to 20 of 5147
1.
rs1491529556 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 12:76858240
(GRCh38)
12:77252020
(GRCh37)
- Canonical SPDI:
- NC_000012.12:76858239:TG:
- Gene:
- CSRP2 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.00242/40
(TOMMO)
- HGVS:
2.
rs1491525456 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 12:76877978
(GRCh38)
12:77271758
(GRCh37)
- Canonical SPDI:
- NC_000012.12:76877977:CA:
- Gene:
- CSRP2 (Varview), LOC124902971 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.028265/461
(
ALFA)
-=0.000039/1
(TOMMO)
-=0.082136/526
(1000Genomes)
-=0.101554/13280
(GnomAD)
-=0.118333/71
(NorthernSweden)
-=0.140633/542
(ALSPAC)
-=0.142665/529
(TWINSUK)
-=0.275/11
(GENOME_DK)
- HGVS:
4.
rs1491462884 has merged into rs1224671978 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT
[Show Flanks]
- Chromosome:
- 12:76861377
(GRCh38)
12:77255157
(GRCh37)
- Canonical SPDI:
- NC_000012.12:76861366:TTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000012.12:76861366:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:76861366:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:76861366:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:76861366:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:76861366:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:76861366:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:76861366:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:76861366:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
- Gene:
- CSRP2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000012.12:g.76861377_76861381del, NC_000012.12:g.76861378_76861381del, NC_000012.12:g.76861379_76861381del, NC_000012.12:g.76861380_76861381del, NC_000012.12:g.76861381del, NC_000012.12:g.76861381dup, NC_000012.12:g.76861380_76861381dup, NC_000012.12:g.76861379_76861381dup, NC_000012.12:g.76861378_76861381dup, NC_000012.11:g.77255157_77255161del, NC_000012.11:g.77255158_77255161del, NC_000012.11:g.77255159_77255161del, NC_000012.11:g.77255160_77255161del, NC_000012.11:g.77255161del, NC_000012.11:g.77255161dup, NC_000012.11:g.77255160_77255161dup, NC_000012.11:g.77255159_77255161dup, NC_000012.11:g.77255158_77255161dup
5.
rs1491417867 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 12:76861381
(GRCh38)
12:77255161
(GRCh37)
- Canonical SPDI:
- NC_000012.12:76861380:TA:
- Gene:
- CSRP2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.001963/32
(
ALFA)
-=0.001107/2
(Korea1K)
-=0.009413/156
(TOMMO)
-=0.01351/1776
(GnomAD)
- HGVS:
6.
rs1491390125 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 12:76863828
(GRCh38)
12:77257608
(GRCh37)
- Canonical SPDI:
- NC_000012.12:76863826:ATA:A
- Gene:
- CSRP2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000023/6
(TOPMED)
- HGVS:
7.
rs1491382153 has merged into rs33997080 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 12:76867344
(GRCh38)
12:77261124
(GRCh37)
- Canonical SPDI:
- NC_000012.12:76867332:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:76867332:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:76867332:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:76867332:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:76867332:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:76867332:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:76867332:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:76867332:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:76867332:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:76867332:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:76867332:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:76867332:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:76867332:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:76867332:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:76867332:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:76867332:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- CSRP2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAA=0./0
(
ALFA)
AA=0.4405/2206
(1000Genomes)
- HGVS:
NC_000012.12:g.76867344_76867358del, NC_000012.12:g.76867345_76867358del, NC_000012.12:g.76867346_76867358del, NC_000012.12:g.76867347_76867358del, NC_000012.12:g.76867349_76867358del, NC_000012.12:g.76867350_76867358del, NC_000012.12:g.76867351_76867358del, NC_000012.12:g.76867352_76867358del, NC_000012.12:g.76867354_76867358del, NC_000012.12:g.76867355_76867358del, NC_000012.12:g.76867356_76867358del, NC_000012.12:g.76867357_76867358del, NC_000012.12:g.76867358del, NC_000012.12:g.76867358dup, NC_000012.12:g.76867357_76867358dup, NC_000012.12:g.76867356_76867358dup, NC_000012.11:g.77261124_77261138del, NC_000012.11:g.77261125_77261138del, NC_000012.11:g.77261126_77261138del, NC_000012.11:g.77261127_77261138del, NC_000012.11:g.77261129_77261138del, NC_000012.11:g.77261130_77261138del, NC_000012.11:g.77261131_77261138del, NC_000012.11:g.77261132_77261138del, NC_000012.11:g.77261134_77261138del, NC_000012.11:g.77261135_77261138del, NC_000012.11:g.77261136_77261138del, NC_000012.11:g.77261137_77261138del, NC_000012.11:g.77261138del, NC_000012.11:g.77261138dup, NC_000012.11:g.77261137_77261138dup, NC_000012.11:g.77261136_77261138dup
8.
rs1491367163 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 12:76867332
(GRCh38)
12:77261112
(GRCh37)
- Canonical SPDI:
- NC_000012.12:76867331:TA:
- Gene:
- CSRP2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00008/1
(
ALFA)
-=0.00004/1
(TOMMO)
-=0.0002/17
(GnomAD)
- HGVS:
9.
rs1491363201 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->TTG,TTTAAG
[Show Flanks]
- Chromosome:
- 12:76858240
(GRCh38)
12:77252021
(GRCh37)
- Canonical SPDI:
- NC_000012.12:76858240::TTG,NC_000012.12:76858240::TTTAAG
- Gene:
- CSRP2 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
TTG=0./0
(
ALFA)
TTTAAG=0.00007/2
(TOMMO)
- HGVS:
10.
rs1491357234 has merged into rs398020213 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 12:76870987
(GRCh38)
12:77264767
(GRCh37)
- Canonical SPDI:
- NC_000012.12:76870975:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:76870975:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:76870975:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:76870975:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:76870975:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:76870975:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:76870975:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:76870975:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:76870975:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:76870975:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:76870975:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:76870975:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:76870975:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:76870975:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:76870975:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:76870975:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:76870975:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:76870975:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:76870975:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:76870975:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:76870975:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:76870975:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:76870975:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:76870975:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:76870975:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- CSRP2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000012.12:g.76870987_76871000del, NC_000012.12:g.76870988_76871000del, NC_000012.12:g.76870989_76871000del, NC_000012.12:g.76870990_76871000del, NC_000012.12:g.76870991_76871000del, NC_000012.12:g.76870992_76871000del, NC_000012.12:g.76870993_76871000del, NC_000012.12:g.76870994_76871000del, NC_000012.12:g.76870995_76871000del, NC_000012.12:g.76870996_76871000del, NC_000012.12:g.76870997_76871000del, NC_000012.12:g.76870998_76871000del, NC_000012.12:g.76870999_76871000del, NC_000012.12:g.76871000del, NC_000012.12:g.76871000dup, NC_000012.12:g.76870999_76871000dup, NC_000012.12:g.76870998_76871000dup, NC_000012.12:g.76870997_76871000dup, NC_000012.12:g.76870996_76871000dup, NC_000012.12:g.76870995_76871000dup, NC_000012.12:g.76870994_76871000dup, NC_000012.12:g.76870993_76871000dup, NC_000012.12:g.76870991_76871000dup, NC_000012.12:g.76870988_76871000dup, NC_000012.12:g.76870983_76871000dup, NC_000012.11:g.77264767_77264780del, NC_000012.11:g.77264768_77264780del, NC_000012.11:g.77264769_77264780del, NC_000012.11:g.77264770_77264780del, NC_000012.11:g.77264771_77264780del, NC_000012.11:g.77264772_77264780del, NC_000012.11:g.77264773_77264780del, NC_000012.11:g.77264774_77264780del, NC_000012.11:g.77264775_77264780del, NC_000012.11:g.77264776_77264780del, NC_000012.11:g.77264777_77264780del, NC_000012.11:g.77264778_77264780del, NC_000012.11:g.77264779_77264780del, NC_000012.11:g.77264780del, NC_000012.11:g.77264780dup, NC_000012.11:g.77264779_77264780dup, NC_000012.11:g.77264778_77264780dup, NC_000012.11:g.77264777_77264780dup, NC_000012.11:g.77264776_77264780dup, NC_000012.11:g.77264775_77264780dup, NC_000012.11:g.77264774_77264780dup, NC_000012.11:g.77264773_77264780dup, NC_000012.11:g.77264771_77264780dup, NC_000012.11:g.77264768_77264780dup, NC_000012.11:g.77264763_77264780dup
13.
rs1491122023 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A,ATA,ATATA,ATATATA,G
[Show Flanks]
- Chromosome:
- 12:76861367
(GRCh38)
12:77255148
(GRCh37)
- Canonical SPDI:
- NC_000012.12:76861367::A,NC_000012.12:76861367::ATA,NC_000012.12:76861367::ATATA,NC_000012.12:76861367::ATATATA,NC_000012.12:76861367::G
- Gene:
- CSRP2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATA=0./0
(
ALFA)
ATATATA=0.000008/2
(TOPMED)
A=0.004105/69
(TOMMO)
A=0.008909/16
(Korea1K)
A=0.015094/8
(NorthernSweden)
- HGVS:
14.
rs1491107613 has merged into rs57542492 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ACACACACACACACACACACACACACACACAC>-,AC,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC
[Show Flanks]
- Chromosome:
- 12:76869548
(GRCh38)
12:77263328
(GRCh37)
- Canonical SPDI:
- NC_000012.12:76869529:ACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACAC,NC_000012.12:76869529:ACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACAC,NC_000012.12:76869529:ACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACAC,NC_000012.12:76869529:ACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000012.12:76869529:ACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000012.12:76869529:ACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC,NC_000012.12:76869529:ACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACAC,NC_000012.12:76869529:ACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACAC,NC_000012.12:76869529:ACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACAC,NC_000012.12:76869529:ACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACAC,NC_000012.12:76869529:ACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACAC,NC_000012.12:76869529:ACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:76869529:ACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:76869529:ACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:76869529:ACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:76869529:ACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:76869529:ACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:76869529:ACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:76869529:ACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:76869529:ACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:76869529:ACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:76869529:ACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:76869529:ACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:76869529:ACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:76869529:ACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:76869529:ACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:76869529:ACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:76869529:ACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:76869529:ACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:76869529:ACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:76869529:ACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:76869529:ACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:76869529:ACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:76869529:ACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:76869529:ACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:76869529:ACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:76869529:ACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC
- Gene:
- CSRP2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACACACAC=0./0
(
ALFA)
- HGVS:
NC_000012.12:g.76869530AC[9], NC_000012.12:g.76869530AC[10], NC_000012.12:g.76869530AC[11], NC_000012.12:g.76869530AC[12], NC_000012.12:g.76869530AC[13], NC_000012.12:g.76869530AC[14], NC_000012.12:g.76869530AC[15], NC_000012.12:g.76869530AC[16], NC_000012.12:g.76869530AC[17], NC_000012.12:g.76869530AC[18], NC_000012.12:g.76869530AC[19], NC_000012.12:g.76869530AC[20], NC_000012.12:g.76869530AC[21], NC_000012.12:g.76869530AC[22], NC_000012.12:g.76869530AC[23], NC_000012.12:g.76869530AC[24], NC_000012.12:g.76869530AC[26], NC_000012.12:g.76869530AC[27], NC_000012.12:g.76869530AC[28], NC_000012.12:g.76869530AC[29], NC_000012.12:g.76869530AC[30], NC_000012.12:g.76869530AC[31], NC_000012.12:g.76869530AC[32], NC_000012.12:g.76869530AC[33], NC_000012.12:g.76869530AC[34], NC_000012.12:g.76869530AC[35], NC_000012.12:g.76869530AC[36], NC_000012.12:g.76869530AC[37], NC_000012.12:g.76869530AC[38], NC_000012.12:g.76869530AC[39], NC_000012.12:g.76869530AC[40], NC_000012.12:g.76869530AC[41], NC_000012.12:g.76869530AC[42], NC_000012.12:g.76869530AC[43], NC_000012.12:g.76869530AC[44], NC_000012.12:g.76869530AC[47], NC_000012.12:g.76869530AC[49], NC_000012.11:g.77263310AC[9], NC_000012.11:g.77263310AC[10], NC_000012.11:g.77263310AC[11], NC_000012.11:g.77263310AC[12], NC_000012.11:g.77263310AC[13], NC_000012.11:g.77263310AC[14], NC_000012.11:g.77263310AC[15], NC_000012.11:g.77263310AC[16], NC_000012.11:g.77263310AC[17], NC_000012.11:g.77263310AC[18], NC_000012.11:g.77263310AC[19], NC_000012.11:g.77263310AC[20], NC_000012.11:g.77263310AC[21], NC_000012.11:g.77263310AC[22], NC_000012.11:g.77263310AC[23], NC_000012.11:g.77263310AC[24], NC_000012.11:g.77263310AC[26], NC_000012.11:g.77263310AC[27], NC_000012.11:g.77263310AC[28], NC_000012.11:g.77263310AC[29], NC_000012.11:g.77263310AC[30], NC_000012.11:g.77263310AC[31], NC_000012.11:g.77263310AC[32], NC_000012.11:g.77263310AC[33], NC_000012.11:g.77263310AC[34], NC_000012.11:g.77263310AC[35], NC_000012.11:g.77263310AC[36], NC_000012.11:g.77263310AC[37], NC_000012.11:g.77263310AC[38], NC_000012.11:g.77263310AC[39], NC_000012.11:g.77263310AC[40], NC_000012.11:g.77263310AC[41], NC_000012.11:g.77263310AC[42], NC_000012.11:g.77263310AC[43], NC_000012.11:g.77263310AC[44], NC_000012.11:g.77263310AC[47], NC_000012.11:g.77263310AC[49]
15.
rs1490764046 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:76872041
(GRCh38)
12:77265821
(GRCh37)
- Canonical SPDI:
- NC_000012.12:76872040:T:C
- Gene:
- CSRP2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
17.
rs1490590229 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,G
[Show Flanks]
- Chromosome:
- 12:76874262
(GRCh38)
12:77268042
(GRCh37)
- Canonical SPDI:
- NC_000012.12:76874261:T:A,NC_000012.12:76874261:T:G
- Gene:
- CSRP2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
18.
rs1490488072 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 12:76866636
(GRCh38)
12:77260416
(GRCh37)
- Canonical SPDI:
- NC_000012.12:76866635:A:C
- Gene:
- CSRP2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
20.
rs1489926439 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 12:76859683
(GRCh38)
12:77253463
(GRCh37)
- Canonical SPDI:
- NC_000012.12:76859682:C:G
- Gene:
- CSRP2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS: