Links from Gene
Items: 1 to 20 of 19470
1.
rs1491574866 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GAA
[Show Flanks]
- Chromosome:
- 4:140295957
(GRCh38)
4:141217112
(GRCh37)
- Canonical SPDI:
- NC_000004.12:140295957:AA:AAGAA
- Gene:
- SCOC (Varview), SCOC-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAGAA=0./0
(
ALFA)
AAG=0.000061/8
(GnomAD)
AAG=0.002009/34
(TOMMO)
AAG=0.002186/4
(Korea1K)
- HGVS:
2.
rs1491549986 has merged into rs1183789218 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 4:140362307
(GRCh38)
4:141283461
(GRCh37)
- Canonical SPDI:
- NC_000004.12:140362299:TTTTTTTTTTTTTTTT:TTTTTTT,NC_000004.12:140362299:TTTTTTTTTTTTTTTT:TTTTTTTT,NC_000004.12:140362299:TTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000004.12:140362299:TTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000004.12:140362299:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:140362299:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:140362299:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:140362299:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:140362299:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:140362299:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:140362299:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:140362299:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:140362299:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:140362299:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:140362299:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:140362299:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:140362299:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:140362299:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:140362299:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:140362299:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:140362299:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:140362299:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:140362299:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- SCOC (Varview), SCOC-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000004.12:g.140362307_140362315del, NC_000004.12:g.140362308_140362315del, NC_000004.12:g.140362309_140362315del, NC_000004.12:g.140362310_140362315del, NC_000004.12:g.140362311_140362315del, NC_000004.12:g.140362312_140362315del, NC_000004.12:g.140362313_140362315del, NC_000004.12:g.140362314_140362315del, NC_000004.12:g.140362315del, NC_000004.12:g.140362315dup, NC_000004.12:g.140362314_140362315dup, NC_000004.12:g.140362313_140362315dup, NC_000004.12:g.140362312_140362315dup, NC_000004.12:g.140362311_140362315dup, NC_000004.12:g.140362310_140362315dup, NC_000004.12:g.140362309_140362315dup, NC_000004.12:g.140362308_140362315dup, NC_000004.12:g.140362307_140362315dup, NC_000004.12:g.140362306_140362315dup, NC_000004.12:g.140362305_140362315dup, NC_000004.12:g.140362304_140362315dup, NC_000004.12:g.140362303_140362315dup, NC_000004.12:g.140362302_140362315dup, NC_000004.11:g.141283461_141283469del, NC_000004.11:g.141283462_141283469del, NC_000004.11:g.141283463_141283469del, NC_000004.11:g.141283464_141283469del, NC_000004.11:g.141283465_141283469del, NC_000004.11:g.141283466_141283469del, NC_000004.11:g.141283467_141283469del, NC_000004.11:g.141283468_141283469del, NC_000004.11:g.141283469del, NC_000004.11:g.141283469dup, NC_000004.11:g.141283468_141283469dup, NC_000004.11:g.141283467_141283469dup, NC_000004.11:g.141283466_141283469dup, NC_000004.11:g.141283465_141283469dup, NC_000004.11:g.141283464_141283469dup, NC_000004.11:g.141283463_141283469dup, NC_000004.11:g.141283462_141283469dup, NC_000004.11:g.141283461_141283469dup, NC_000004.11:g.141283460_141283469dup, NC_000004.11:g.141283459_141283469dup, NC_000004.11:g.141283458_141283469dup, NC_000004.11:g.141283457_141283469dup, NC_000004.11:g.141283456_141283469dup
3.
rs1491548011 has merged into rs10706298 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CCC>-,C,CC,CCCC,CCCCC
[Show Flanks]
- Chromosome:
- 4:140326651
(GRCh38)
4:141247805
(GRCh37)
- Canonical SPDI:
- NC_000004.12:140326643:CCCCCCCCCC:CCCCCCC,NC_000004.12:140326643:CCCCCCCCCC:CCCCCCCC,NC_000004.12:140326643:CCCCCCCCCC:CCCCCCCCC,NC_000004.12:140326643:CCCCCCCCCC:CCCCCCCCCCC,NC_000004.12:140326643:CCCCCCCCCC:CCCCCCCCCCCC
- Gene:
- SCOC (Varview), SCOC-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCCCCCCCCC=0./0
(
ALFA)
CC=0.186/717
(ALSPAC)
-=0.3307/1656
(1000Genomes)
- HGVS:
4.
rs1491444656 has merged into rs34770368 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 4:140284780
(GRCh38)
4:141205934
(GRCh37)
- Canonical SPDI:
- NC_000004.12:140284770:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000004.12:140284770:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000004.12:140284770:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:140284770:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:140284770:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:140284770:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:140284770:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:140284770:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:140284770:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:140284770:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:140284770:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:140284770:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:140284770:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:140284770:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:140284770:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:140284770:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:140284770:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:140284770:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:140284770:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- SCOC (Varview), SCOC-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAA=0./0
(
ALFA)
-=0.3229/1617
(1000Genomes)
- HGVS:
NC_000004.12:g.140284780_140284792del, NC_000004.12:g.140284781_140284792del, NC_000004.12:g.140284782_140284792del, NC_000004.12:g.140284783_140284792del, NC_000004.12:g.140284784_140284792del, NC_000004.12:g.140284785_140284792del, NC_000004.12:g.140284786_140284792del, NC_000004.12:g.140284787_140284792del, NC_000004.12:g.140284788_140284792del, NC_000004.12:g.140284789_140284792del, NC_000004.12:g.140284790_140284792del, NC_000004.12:g.140284791_140284792del, NC_000004.12:g.140284792del, NC_000004.12:g.140284792dup, NC_000004.12:g.140284791_140284792dup, NC_000004.12:g.140284790_140284792dup, NC_000004.12:g.140284789_140284792dup, NC_000004.12:g.140284788_140284792dup, NC_000004.12:g.140284771_140284792A[23]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000004.11:g.141205934_141205946del, NC_000004.11:g.141205935_141205946del, NC_000004.11:g.141205936_141205946del, NC_000004.11:g.141205937_141205946del, NC_000004.11:g.141205938_141205946del, NC_000004.11:g.141205939_141205946del, NC_000004.11:g.141205940_141205946del, NC_000004.11:g.141205941_141205946del, NC_000004.11:g.141205942_141205946del, NC_000004.11:g.141205943_141205946del, NC_000004.11:g.141205944_141205946del, NC_000004.11:g.141205945_141205946del, NC_000004.11:g.141205946del, NC_000004.11:g.141205946dup, NC_000004.11:g.141205945_141205946dup, NC_000004.11:g.141205944_141205946dup, NC_000004.11:g.141205943_141205946dup, NC_000004.11:g.141205942_141205946dup, NC_000004.11:g.141205925_141205946A[23]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NR_033939.1:n.960_972del, NR_033939.1:n.961_972del, NR_033939.1:n.962_972del, NR_033939.1:n.963_972del, NR_033939.1:n.964_972del, NR_033939.1:n.965_972del, NR_033939.1:n.966_972del, NR_033939.1:n.967_972del, NR_033939.1:n.968_972del, NR_033939.1:n.969_972del, NR_033939.1:n.970_972del, NR_033939.1:n.971_972del, NR_033939.1:n.972del, NR_033939.1:n.972dup, NR_033939.1:n.971_972dup, NR_033939.1:n.970_972dup, NR_033939.1:n.969_972dup, NR_033939.1:n.968_972dup, NR_033939.1:n.951_972T[47]ATTTTTTTTTTTTTTTTTTTTTTT[1]
6.
rs1491427716 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->TC,TCTCCTTCTC,TCTCCTTCTCCTTCTCCTTCTC,TCTCCTTCTCCTTCTCCTTCTCCTTCTC,TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC,TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC
[Show Flanks]
- Chromosome:
- 4:140362286
(GRCh38)
4:141283441
(GRCh37)
- Canonical SPDI:
- NC_000004.12:140362286::TC,NC_000004.12:140362286::TCTCCTTCTC,NC_000004.12:140362286::TCTCCTTCTCCTTCTCCTTCTC,NC_000004.12:140362286::TCTCCTTCTCCTTCTCCTTCTCCTTCTC,NC_000004.12:140362286::TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC,NC_000004.12:140362286::TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC
- Gene:
- SCOC (Varview), SCOC-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000004.12:g.140362286_140362287insTC, NC_000004.12:g.140362286_140362287insTCTCCTTCTC, NC_000004.12:g.140362286_140362287insTCTCCTTCTCCTTCTCCTTCTC, NC_000004.12:g.140362286_140362287insTCTCCTTCTCCTTCTCCTTCTCCTTCTC, NC_000004.12:g.140362286_140362287insTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC, NC_000004.12:g.140362286_140362287insTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC, NC_000004.11:g.141283440_141283441insTC, NC_000004.11:g.141283440_141283441insTCTCCTTCTC, NC_000004.11:g.141283440_141283441insTCTCCTTCTCCTTCTCCTTCTC, NC_000004.11:g.141283440_141283441insTCTCCTTCTCCTTCTCCTTCTCCTTCTC, NC_000004.11:g.141283440_141283441insTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC, NC_000004.11:g.141283440_141283441insTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC
7.
rs1491414934 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 4:140370895
(GRCh38)
4:141292050
(GRCh37)
- Canonical SPDI:
- NC_000004.12:140370895::A
- Gene:
- SCOC (Varview), SCOC-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000012/1
(GnomAD)
- HGVS:
8.
rs1491403919 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AC>-
[Show Flanks]
- Chromosome:
- 4:140362277
(GRCh38)
4:141283431
(GRCh37)
- Canonical SPDI:
- NC_000004.12:140362276:AC:
- Gene:
- SCOC (Varview), SCOC-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00042/5
(
ALFA)
-=0.00006/2
(GnomAD)
- HGVS:
10.
rs1491371645 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 4:140355208
(GRCh38)
4:141276363
(GRCh37)
- Canonical SPDI:
- NC_000004.12:140355208::A
- Gene:
- SCOC (Varview), SCOC-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency
- MAF:
A=0.00018/2
(GnomAD)
- HGVS:
11.
rs1491364751 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 4:140351501
(GRCh38)
4:141272655
(GRCh37)
- Canonical SPDI:
- NC_000004.12:140351499:ATA:A
- Gene:
- SCOC (Varview), SCOC-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
12.
rs1491291894 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 4:140351500
(GRCh38)
4:141272655
(GRCh37)
- Canonical SPDI:
- NC_000004.12:140351500:T:TT
- Gene:
- SCOC (Varview), SCOC-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
TT=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS:
13.
rs1491252944 has merged into rs200698292 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT,TTTTTTT,TTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 4:140370906
(GRCh38)
4:141292060
(GRCh37)
- Canonical SPDI:
- NC_000004.12:140370894:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:140370894:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:140370894:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:140370894:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:140370894:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:140370894:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:140370894:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- SCOC (Varview), SCOC-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTT=0.00009/1
(
ALFA)
-=0.175/7
(GENOME_DK)
-=0.26597/1332
(1000Genomes)
- HGVS:
NC_000004.12:g.140370906_140370908del, NC_000004.12:g.140370907_140370908del, NC_000004.12:g.140370908del, NC_000004.12:g.140370908dup, NC_000004.12:g.140370907_140370908dup, NC_000004.12:g.140370905_140370908dup, NC_000004.12:g.140370900_140370908dup, NC_000004.11:g.141292060_141292062del, NC_000004.11:g.141292061_141292062del, NC_000004.11:g.141292062del, NC_000004.11:g.141292062dup, NC_000004.11:g.141292061_141292062dup, NC_000004.11:g.141292059_141292062dup, NC_000004.11:g.141292054_141292062dup
14.
rs1491240115 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GC>-
[Show Flanks]
- Chromosome:
- 4:140348578
(GRCh38)
4:141269732
(GRCh37)
- Canonical SPDI:
- NC_000004.12:140348576:CGC:C
- Gene:
- SCOC (Varview), SCOC-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
-=0.000035/1
(TOMMO)
- HGVS:
15.
rs1491221564 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GATATATATATATAT
[Show Flanks]
- Chromosome:
- 4:140355212
(GRCh38)
4:141276367
(GRCh37)
- Canonical SPDI:
- NC_000004.12:140355212:ATATATATATATAT:ATATATATATATATGATATATATATATAT
- Gene:
- SCOC (Varview), SCOC-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATATATATATGATATATATATATAT=0.00008/1
(
ALFA)
ATATATATATATATG=0.00067/1
(TOMMO)
ATATATATATATATG=0.00556/1
(Korea1K)
ATATATATATATATG=0.03374/72
(GnomAD)
- HGVS:
16.
rs1491211300 has merged into rs34147327 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 4:140361239
(GRCh38)
4:141282393
(GRCh37)
- Canonical SPDI:
- NC_000004.12:140361228:TTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000004.12:140361228:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:140361228:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:140361228:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:140361228:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:140361228:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:140361228:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- SCOC (Varview), SCOC-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
TT=0.157/93
(NorthernSweden)
- HGVS:
NC_000004.12:g.140361239_140361243del, NC_000004.12:g.140361240_140361243del, NC_000004.12:g.140361241_140361243del, NC_000004.12:g.140361242_140361243del, NC_000004.12:g.140361243del, NC_000004.12:g.140361243dup, NC_000004.12:g.140361234_140361243dup, NC_000004.11:g.141282393_141282397del, NC_000004.11:g.141282394_141282397del, NC_000004.11:g.141282395_141282397del, NC_000004.11:g.141282396_141282397del, NC_000004.11:g.141282397del, NC_000004.11:g.141282397dup, NC_000004.11:g.141282388_141282397dup
17.
rs1491208325 has merged into rs1314722111 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAA>-,AAA,AAAA,AAAAAA
[Show Flanks]
- Chromosome:
- 4:140295963
(GRCh38)
4:141217117
(GRCh37)
- Canonical SPDI:
- NC_000004.12:140295956:AAAAAAAAAAA:AAAAAA,NC_000004.12:140295956:AAAAAAAAAAA:AAAAAAAAA,NC_000004.12:140295956:AAAAAAAAAAA:AAAAAAAAAA,NC_000004.12:140295956:AAAAAAAAAAA:AAAAAAAAAAAA
- Gene:
- SCOC (Varview), SCOC-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
A=0.003333/2
(NorthernSweden)
-=0.016724/280
(TOMMO)
- HGVS:
18.
rs1491137497 has merged into rs1305620519 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CTTCTT>-,CTT,CTTCTTCTT,CTTCTTCTTCTTCTT,CTTCTTCTTCTTCTTCTT,CTTCTTCTTCTTCTTCTTCTT,CTTCTTCTTCTTCTTCTTCTTCTT,CTTCTTCTTCTTCTTCTTCTTCTTCTT,CTTCTTCTTCTTCTTCTTCTTCTTCTTCTT,CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT,CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT,CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT,CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT,CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT,CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT,CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT,CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT,CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT,CTTCTTCTTCTTCTTGTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT,CTTCTTCTTCTTCTTGTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT,CTTCTTCTTCTTCTTGTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT,CTTCTTCTTCTTCTTGTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT,CTTCTTCTTCTTCTTGTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT,CTTCTTCTTCTTCTTGTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT,CTTCTTCTTCTTCTTGTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT,CTTCTTCTTCTTGTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT,CTTCTTCTTCTTGTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT,CTTCTTCTTCTTGTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT
[Show Flanks]
- Chromosome:
- 4:140362296
(GRCh38)
4:141283450
(GRCh37)
- Canonical SPDI:
- NC_000004.12:140362277:CTTCTTCTTCTTCTTCTTCTTCTT:CTTCTTCTTCTTCTTCTT,NC_000004.12:140362277:CTTCTTCTTCTTCTTCTTCTTCTT:CTTCTTCTTCTTCTTCTTCTT,NC_000004.12:140362277:CTTCTTCTTCTTCTTCTTCTTCTT:CTTCTTCTTCTTCTTCTTCTTCTTCTT,NC_000004.12:140362277:CTTCTTCTTCTTCTTCTTCTTCTT:CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT,NC_000004.12:140362277:CTTCTTCTTCTTCTTCTTCTTCTT:CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT,NC_000004.12:140362277:CTTCTTCTTCTTCTTCTTCTTCTT:CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT,NC_000004.12:140362277:CTTCTTCTTCTTCTTCTTCTTCTT:CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT,NC_000004.12:140362277:CTTCTTCTTCTTCTTCTTCTTCTT:CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT,NC_000004.12:140362277:CTTCTTCTTCTTCTTCTTCTTCTT:CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT,NC_000004.12:140362277:CTTCTTCTTCTTCTTCTTCTTCTT:CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT,NC_000004.12:140362277:CTTCTTCTTCTTCTTCTTCTTCTT:CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT,NC_000004.12:140362277:CTTCTTCTTCTTCTTCTTCTTCTT:CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT,NC_000004.12:140362277:CTTCTTCTTCTTCTTCTTCTTCTT:CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT,NC_000004.12:140362277:CTTCTTCTTCTTCTTCTTCTTCTT:CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT,NC_000004.12:140362277:CTTCTTCTTCTTCTTCTTCTTCTT:CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT,NC_000004.12:140362277:CTTCTTCTTCTTCTTCTTCTTCTT:CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT,NC_000004.12:140362277:CTTCTTCTTCTTCTTCTTCTTCTT:CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT,NC_000004.12:140362277:CTTCTTCTTCTTCTTCTTCTTCTT:CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT,NC_000004.12:140362277:CTTCTTCTTCTTCTTCTTCTTCTT:CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTGTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT,NC_000004.12:140362277:CTTCTTCTTCTTCTTCTTCTTCTT:CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTGTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT,NC_000004.12:140362277:CTTCTTCTTCTTCTTCTTCTTCTT:CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTGTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT,NC_000004.12:140362277:CTTCTTCTTCTTCTTCTTCTTCTT:CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTGTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT,NC_000004.12:140362277:CTTCTTCTTCTTCTTCTTCTTCTT:CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTGTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT,NC_000004.12:140362277:CTTCTTCTTCTTCTTCTTCTTCTT:CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTGTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT,NC_000004.12:140362277:CTTCTTCTTCTTCTTCTTCTTCTT:CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTGTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT,NC_000004.12:140362277:CTTCTTCTTCTTCTTCTTCTTCTT:CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTGTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT,NC_000004.12:140362277:CTTCTTCTTCTTCTTCTTCTTCTT:CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTGTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT,NC_000004.12:140362277:CTTCTTCTTCTTCTTCTTCTTCTT:CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTGTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT
- Gene:
- SCOC (Varview), SCOC-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CTTCTTCTTCTTCTTCTTCTT=0./0
(
ALFA)
- HGVS:
NC_000004.12:g.140362278CTT[6], NC_000004.12:g.140362278CTT[7], NC_000004.12:g.140362278CTT[9], NC_000004.12:g.140362278CTT[11], NC_000004.12:g.140362278CTT[12], NC_000004.12:g.140362278CTT[13], NC_000004.12:g.140362278CTT[14], NC_000004.12:g.140362278CTT[15], NC_000004.12:g.140362278CTT[16], NC_000004.12:g.140362278CTT[17], NC_000004.12:g.140362278CTT[18], NC_000004.12:g.140362278CTT[19], NC_000004.12:g.140362278CTT[20], NC_000004.12:g.140362278CTT[21], NC_000004.12:g.140362278CTT[22], NC_000004.12:g.140362278CTT[23], NC_000004.12:g.140362278CTT[24], NC_000004.12:g.140362278CTT[25], NC_000004.12:g.140362278_140362301CTT[11]GTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT[1], NC_000004.12:g.140362278_140362301CTT[11]GTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT[1], NC_000004.12:g.140362278_140362301CTT[11]GTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT[1], NC_000004.12:g.140362278_140362301CTT[11]GTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT[1], NC_000004.12:g.140362278_140362301CTT[11]GTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT[1], NC_000004.12:g.140362278_140362301CTT[11]GTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT[1], NC_000004.12:g.140362278_140362301CTT[11]GTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT[1], NC_000004.12:g.140362278_140362301CTT[10]GTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT[1], NC_000004.12:g.140362278_140362301CTT[10]GTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT[1], NC_000004.12:g.140362278_140362301CTT[10]GTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT[1], NC_000004.11:g.141283432CTT[6], NC_000004.11:g.141283432CTT[7], NC_000004.11:g.141283432CTT[9], NC_000004.11:g.141283432CTT[11], NC_000004.11:g.141283432CTT[12], NC_000004.11:g.141283432CTT[13], NC_000004.11:g.141283432CTT[14], NC_000004.11:g.141283432CTT[15], NC_000004.11:g.141283432CTT[16], NC_000004.11:g.141283432CTT[17], NC_000004.11:g.141283432CTT[18], NC_000004.11:g.141283432CTT[19], NC_000004.11:g.141283432CTT[20], NC_000004.11:g.141283432CTT[21], NC_000004.11:g.141283432CTT[22], NC_000004.11:g.141283432CTT[23], NC_000004.11:g.141283432CTT[24], NC_000004.11:g.141283432CTT[25], NC_000004.11:g.141283432_141283455CTT[11]GTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT[1], NC_000004.11:g.141283432_141283455CTT[11]GTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT[1], NC_000004.11:g.141283432_141283455CTT[11]GTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT[1], NC_000004.11:g.141283432_141283455CTT[11]GTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT[1], NC_000004.11:g.141283432_141283455CTT[11]GTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT[1], NC_000004.11:g.141283432_141283455CTT[11]GTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT[1], NC_000004.11:g.141283432_141283455CTT[11]GTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT[1], NC_000004.11:g.141283432_141283455CTT[10]GTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT[1], NC_000004.11:g.141283432_141283455CTT[10]GTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT[1], NC_000004.11:g.141283432_141283455CTT[10]GTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT[1]
20.
rs1491093921 has merged into rs34322076 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TATATATATATATATATATATATATATATA>-,TATA,TATATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATATA,TATATATATATATATATATATATA,TATATATATATATATATATATATATA,TATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATATA
[Show Flanks]
- Chromosome:
- 4:140355220
(GRCh38)
4:141276374
(GRCh37)
- Canonical SPDI:
- NC_000004.12:140355211:TATATATATATATATATATATATATATATATATATATA:TATATATA,NC_000004.12:140355211:TATATATATATATATATATATATATATATATATATATA:TATATATATATA,NC_000004.12:140355211:TATATATATATATATATATATATATATATATATATATA:TATATATATATATA,NC_000004.12:140355211:TATATATATATATATATATATATATATATATATATATA:TATATATATATATATA,NC_000004.12:140355211:TATATATATATATATATATATATATATATATATATATA:TATATATATATATATATA,NC_000004.12:140355211:TATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATA,NC_000004.12:140355211:TATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATA,NC_000004.12:140355211:TATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATA,NC_000004.12:140355211:TATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATA,NC_000004.12:140355211:TATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATA,NC_000004.12:140355211:TATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATA,NC_000004.12:140355211:TATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATA,NC_000004.12:140355211:TATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATA,NC_000004.12:140355211:TATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATA,NC_000004.12:140355211:TATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATA,NC_000004.12:140355211:TATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATA,NC_000004.12:140355211:TATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATA,NC_000004.12:140355211:TATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATA,NC_000004.12:140355211:TATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000004.12:140355211:TATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000004.12:140355211:TATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000004.12:140355211:TATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000004.12:140355211:TATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000004.12:140355211:TATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000004.12:140355211:TATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA
- Gene:
- SCOC (Varview), SCOC-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000004.12:g.140355212TA[4], NC_000004.12:g.140355212TA[6], NC_000004.12:g.140355212TA[7], NC_000004.12:g.140355212TA[8], NC_000004.12:g.140355212TA[9], NC_000004.12:g.140355212TA[10], NC_000004.12:g.140355212TA[11], NC_000004.12:g.140355212TA[13], NC_000004.12:g.140355212TA[14], NC_000004.12:g.140355212TA[15], NC_000004.12:g.140355212TA[16], NC_000004.12:g.140355212TA[17], NC_000004.12:g.140355212TA[18], NC_000004.12:g.140355212TA[20], NC_000004.12:g.140355212TA[21], NC_000004.12:g.140355212TA[22], NC_000004.12:g.140355212TA[23], NC_000004.12:g.140355212TA[24], NC_000004.12:g.140355212TA[25], NC_000004.12:g.140355212TA[26], NC_000004.12:g.140355212TA[27], NC_000004.12:g.140355212TA[28], NC_000004.12:g.140355212TA[29], NC_000004.12:g.140355212TA[30], NC_000004.12:g.140355212TA[31], NC_000004.11:g.141276366TA[4], NC_000004.11:g.141276366TA[6], NC_000004.11:g.141276366TA[7], NC_000004.11:g.141276366TA[8], NC_000004.11:g.141276366TA[9], NC_000004.11:g.141276366TA[10], NC_000004.11:g.141276366TA[11], NC_000004.11:g.141276366TA[13], NC_000004.11:g.141276366TA[14], NC_000004.11:g.141276366TA[15], NC_000004.11:g.141276366TA[16], NC_000004.11:g.141276366TA[17], NC_000004.11:g.141276366TA[18], NC_000004.11:g.141276366TA[20], NC_000004.11:g.141276366TA[21], NC_000004.11:g.141276366TA[22], NC_000004.11:g.141276366TA[23], NC_000004.11:g.141276366TA[24], NC_000004.11:g.141276366TA[25], NC_000004.11:g.141276366TA[26], NC_000004.11:g.141276366TA[27], NC_000004.11:g.141276366TA[28], NC_000004.11:g.141276366TA[29], NC_000004.11:g.141276366TA[30], NC_000004.11:g.141276366TA[31]