Links from Gene
Items: 1 to 20 of 13648
1.
rs1491560133 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 2:207213074
(GRCh38)
2:208077798
(GRCh37)
- Canonical SPDI:
- NC_000002.12:207213073:TA:
- Gene:
- MYOSLID-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.00008/1
(
ALFA)
-=0.00045/7
(GnomAD)
- HGVS:
2.
rs1491546385 has merged into rs58398983 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TGTGTGTGTGTGTGTGTGTGTGTGTGTG>-,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
[Show Flanks]
- Chromosome:
- 2:207250862
(GRCh38)
2:208115586
(GRCh37)
- Canonical SPDI:
- NC_000002.12:207250848:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTG,NC_000002.12:207250848:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTG,NC_000002.12:207250848:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTG,NC_000002.12:207250848:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTG,NC_000002.12:207250848:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTG,NC_000002.12:207250848:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000002.12:207250848:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000002.12:207250848:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000002.12:207250848:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000002.12:207250848:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000002.12:207250848:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000002.12:207250848:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000002.12:207250848:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000002.12:207250848:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000002.12:207250848:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000002.12:207250848:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000002.12:207250848:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000002.12:207250848:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000002.12:207250848:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000002.12:207250848:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000002.12:207250848:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000002.12:207250848:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000002.12:207250848:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000002.12:207250848:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
- Gene:
- MYOSLID-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTGTGTGTGTGTGTGTG=0./0
(
ALFA)
- HGVS:
NC_000002.12:g.207250850TG[6], NC_000002.12:g.207250850TG[9], NC_000002.12:g.207250850TG[10], NC_000002.12:g.207250850TG[11], NC_000002.12:g.207250850TG[12], NC_000002.12:g.207250850TG[13], NC_000002.12:g.207250850TG[14], NC_000002.12:g.207250850TG[15], NC_000002.12:g.207250850TG[16], NC_000002.12:g.207250850TG[17], NC_000002.12:g.207250850TG[18], NC_000002.12:g.207250850TG[19], NC_000002.12:g.207250850TG[21], NC_000002.12:g.207250850TG[22], NC_000002.12:g.207250850TG[23], NC_000002.12:g.207250850TG[24], NC_000002.12:g.207250850TG[25], NC_000002.12:g.207250850TG[26], NC_000002.12:g.207250850TG[27], NC_000002.12:g.207250850TG[28], NC_000002.12:g.207250850TG[29], NC_000002.12:g.207250850TG[30], NC_000002.12:g.207250850TG[31], NC_000002.12:g.207250850TG[32], NC_000002.11:g.208115574TG[6], NC_000002.11:g.208115574TG[9], NC_000002.11:g.208115574TG[10], NC_000002.11:g.208115574TG[11], NC_000002.11:g.208115574TG[12], NC_000002.11:g.208115574TG[13], NC_000002.11:g.208115574TG[14], NC_000002.11:g.208115574TG[15], NC_000002.11:g.208115574TG[16], NC_000002.11:g.208115574TG[17], NC_000002.11:g.208115574TG[18], NC_000002.11:g.208115574TG[19], NC_000002.11:g.208115574TG[21], NC_000002.11:g.208115574TG[22], NC_000002.11:g.208115574TG[23], NC_000002.11:g.208115574TG[24], NC_000002.11:g.208115574TG[25], NC_000002.11:g.208115574TG[26], NC_000002.11:g.208115574TG[27], NC_000002.11:g.208115574TG[28], NC_000002.11:g.208115574TG[29], NC_000002.11:g.208115574TG[30], NC_000002.11:g.208115574TG[31], NC_000002.11:g.208115574TG[32]
3.
rs1491533565 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 2:207244471
(GRCh38)
2:208109195
(GRCh37)
- Canonical SPDI:
- NC_000002.12:207244468:ATAT:AT
- Gene:
- MYOSLID-AS1 (Varview), MYOSLID (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATAT=0.000337/4
(
ALFA)
-=0.000177/3
(TOMMO)
-=0.000227/60
(TOPMED)
-=0.000294/41
(GnomAD)
-=0.003333/2
(NorthernSweden)
- HGVS:
4.
rs1491480805 has merged into rs11295258 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 2:207195440
(GRCh38)
2:208060164
(GRCh37)
- Canonical SPDI:
- NC_000002.12:207195427:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:207195427:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:207195427:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:207195427:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:207195427:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:207195427:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:207195427:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:207195427:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:207195427:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- MYOSLID-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
T=0.1434/718
(1000Genomes)
- HGVS:
NC_000002.12:g.207195440_207195445del, NC_000002.12:g.207195441_207195445del, NC_000002.12:g.207195442_207195445del, NC_000002.12:g.207195443_207195445del, NC_000002.12:g.207195444_207195445del, NC_000002.12:g.207195445del, NC_000002.12:g.207195445dup, NC_000002.12:g.207195444_207195445dup, NC_000002.12:g.207195432_207195445dup, NC_000002.11:g.208060164_208060169del, NC_000002.11:g.208060165_208060169del, NC_000002.11:g.208060166_208060169del, NC_000002.11:g.208060167_208060169del, NC_000002.11:g.208060168_208060169del, NC_000002.11:g.208060169del, NC_000002.11:g.208060169dup, NC_000002.11:g.208060168_208060169dup, NC_000002.11:g.208060156_208060169dup
5.
rs1491353144 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 2:207222899
(GRCh38)
2:208087623
(GRCh37)
- Canonical SPDI:
- NC_000002.12:207222897:ATA:A
- Gene:
- MYOSLID-AS1 (Varview), LOC124907971 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000224/1
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000223/1
(Estonian)
- HGVS:
6.
rs1491293519 has merged into rs67207324 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,T,TT,TTT,TTTTT
[Show Flanks]
- Chromosome:
- 2:207243969
(GRCh38)
2:208108693
(GRCh37)
- Canonical SPDI:
- NC_000002.12:207243958:TTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:207243958:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:207243958:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:207243958:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:207243958:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT
- Gene:
- MYOSLID-AS1 (Varview), MYOSLID (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
T=0.175/7
(GENOME_DK)
T=0.4307/2157
(1000Genomes)
- HGVS:
7.
rs1491285208 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TT
[Show Flanks]
- Chromosome:
- 2:207250849
(GRCh38)
2:208115574
(GRCh37)
- Canonical SPDI:
- NC_000002.12:207250849:T:TTT
- Gene:
- MYOSLID-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTT=0./0
(
ALFA)
TT=0.00347/27
(GnomAD)
TT=0.00998/100
(TOMMO)
TT=0.01952/23
(Korea1K)
- HGVS:
9.
rs1491250666 has merged into rs10570796 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA
[Show Flanks]
- Chromosome:
- 2:207213086
(GRCh38)
2:208077810
(GRCh37)
- Canonical SPDI:
- NC_000002.12:207213074:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:207213074:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:207213074:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:207213074:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:207213074:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:207213074:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:207213074:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:207213074:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
- Gene:
- MYOSLID-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.4052/2029
(1000Genomes)
- HGVS:
NC_000002.12:g.207213086_207213091del, NC_000002.12:g.207213087_207213091del, NC_000002.12:g.207213088_207213091del, NC_000002.12:g.207213089_207213091del, NC_000002.12:g.207213090_207213091del, NC_000002.12:g.207213091del, NC_000002.12:g.207213091dup, NC_000002.12:g.207213090_207213091dup, NC_000002.11:g.208077810_208077815del, NC_000002.11:g.208077811_208077815del, NC_000002.11:g.208077812_208077815del, NC_000002.11:g.208077813_208077815del, NC_000002.11:g.208077814_208077815del, NC_000002.11:g.208077815del, NC_000002.11:g.208077815dup, NC_000002.11:g.208077814_208077815dup
10.
rs1491224356 has merged into rs1553547225 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-,GAGA
[Show Flanks]
- Chromosome:
- 2:207250891
(GRCh38)
2:208115615
(GRCh37)
- Canonical SPDI:
- NC_000002.12:207250888:GAGA:GA,NC_000002.12:207250888:GAGA:GAGAGA
- Gene:
- MYOSLID-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GAGAGA=0./0
(
ALFA)
-=0.00167/1
(NorthernSweden)
- HGVS:
11.
rs1491074175 has merged into rs58159402 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 2:207233283
(GRCh38)
2:208098007
(GRCh37)
- Canonical SPDI:
- NC_000002.12:207233268:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:207233268:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:207233268:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:207233268:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:207233268:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:207233268:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:207233268:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:207233268:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:207233268:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:207233268:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:207233268:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:207233268:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- MYOSLID-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
NC_000002.12:g.207233283_207233287del, NC_000002.12:g.207233284_207233287del, NC_000002.12:g.207233285_207233287del, NC_000002.12:g.207233286_207233287del, NC_000002.12:g.207233287del, NC_000002.12:g.207233287dup, NC_000002.12:g.207233286_207233287dup, NC_000002.12:g.207233285_207233287dup, NC_000002.12:g.207233284_207233287dup, NC_000002.12:g.207233283_207233287dup, NC_000002.12:g.207233282_207233287dup, NC_000002.12:g.207233281_207233287dup, NC_000002.11:g.208098007_208098011del, NC_000002.11:g.208098008_208098011del, NC_000002.11:g.208098009_208098011del, NC_000002.11:g.208098010_208098011del, NC_000002.11:g.208098011del, NC_000002.11:g.208098011dup, NC_000002.11:g.208098010_208098011dup, NC_000002.11:g.208098009_208098011dup, NC_000002.11:g.208098008_208098011dup, NC_000002.11:g.208098007_208098011dup, NC_000002.11:g.208098006_208098011dup, NC_000002.11:g.208098005_208098011dup
12.
rs1491052066 has merged into rs56412220 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAA>-,A,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 2:207209570
(GRCh38)
2:208074294
(GRCh37)
- Canonical SPDI:
- NC_000002.12:207209560:AAAAAAAAAAAAAA:AAAAAAAAA,NC_000002.12:207209560:AAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:207209560:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:207209560:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:207209560:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:207209560:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:207209560:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:207209560:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:207209560:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:207209560:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:207209560:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- MYOSLID-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAA=0./0
(
ALFA)
-=0.4191/2099
(1000Genomes)
- HGVS:
NC_000002.12:g.207209570_207209574del, NC_000002.12:g.207209571_207209574del, NC_000002.12:g.207209573_207209574del, NC_000002.12:g.207209574del, NC_000002.12:g.207209574dup, NC_000002.12:g.207209573_207209574dup, NC_000002.12:g.207209572_207209574dup, NC_000002.12:g.207209571_207209574dup, NC_000002.12:g.207209570_207209574dup, NC_000002.12:g.207209565_207209574dup, NC_000002.12:g.207209564_207209574dup, NC_000002.11:g.208074294_208074298del, NC_000002.11:g.208074295_208074298del, NC_000002.11:g.208074297_208074298del, NC_000002.11:g.208074298del, NC_000002.11:g.208074298dup, NC_000002.11:g.208074297_208074298dup, NC_000002.11:g.208074296_208074298dup, NC_000002.11:g.208074295_208074298dup, NC_000002.11:g.208074294_208074298dup, NC_000002.11:g.208074289_208074298dup, NC_000002.11:g.208074288_208074298dup
13.
rs1490974101 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 2:207190219
(GRCh38)
2:208054943
(GRCh37)
- Canonical SPDI:
- NC_000002.12:207190218:G:C
- Gene:
- MYOSLID-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000012/1
(GnomAD)
- HGVS:
14.
rs1490856625 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:207233290
(GRCh38)
2:208098014
(GRCh37)
- Canonical SPDI:
- NC_000002.12:207233289:G:A
- Gene:
- MYOSLID-AS1 (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:
16.
rs1490779175 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:207242883
(GRCh38)
2:208107607
(GRCh37)
- Canonical SPDI:
- NC_000002.12:207242882:G:A
- Gene:
- MYOSLID-AS1 (Varview), MYOSLID (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
17.
rs1490775805 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GTC
[Show Flanks]
- Chromosome:
- 2:207224696
(GRCh38)
2:208089421
(GRCh37)
- Canonical SPDI:
- NC_000002.12:207224696:GTC:GTCGTC
- Gene:
- MYOSLID-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTCGTC=0.000216/4
(
ALFA)
GTC=0.000121/17
(GnomAD)
GTC=0.000174/46
(TOPMED)
GTC=0.000223/1
(Estonian)
GTC=0.000625/4
(1000Genomes)
- HGVS:
18.
rs1490736637 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 2:207208711
(GRCh38)
2:208073435
(GRCh37)
- Canonical SPDI:
- NC_000002.12:207208710:G:A,NC_000002.12:207208710:G:C
- Gene:
- MYOSLID-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
19.
rs1490707271 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:207207671
(GRCh38)
2:208072395
(GRCh37)
- Canonical SPDI:
- NC_000002.12:207207670:C:T
- Gene:
- MYOSLID-AS1 (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:
20.
rs1490672315 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 2:207241008
(GRCh38)
2:208105732
(GRCh37)
- Canonical SPDI:
- NC_000002.12:207241007:T:A
- Gene:
- MYOSLID-AS1 (Varview), MYOSLID (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000023/6
(TOPMED)
- HGVS: