SNP Links for Gene (Select 114784) - SNP

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Select item 14915802491.

rs1491580249 has merged into rs3045848 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGAGAGAGAGAGAGAGAGAG>-,AG,AGAG,AGAGAG,AGAGAGAG,AGAGAGAGAG,AGAGAGAGAGAG,AGAGAGAGAGAGAG,AGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG [Show Flanks]
Chromosome:: 1:33950404 (GRCh38)
1:34416005 (GRCh37)
Canonical SPDI:: NC_000001.11:33950383:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAG,NC_000001.11:33950383:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAG,NC_000001.11:33950383:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAG,NC_000001.11:33950383:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000001.11:33950383:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000001.11:33950383:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000001.11:33950383:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000001.11:33950383:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000001.11:33950383:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000001.11:33950383:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000001.11:33950383:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000001.11:33950383:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000001.11:33950383:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000001.11:33950383:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000001.11:33950383:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000001.11:33950383:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000001.11:33950383:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000001.11:33950383:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000001.11:33950383:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000001.11:33950383:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000001.11:33950383:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000001.11:33950383:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000001.11:33950383:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG
Gene:: CSMD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGAGAGAGAGAGAGAG=0./0 (ALFA)
-=0.3073/1539 (1000Genomes)
HGVS:: NC_000001.11:g.33950384AG[10], NC_000001.11:g.33950384AG[11], NC_000001.11:g.33950384AG[12], NC_000001.11:g.33950384AG[13], NC_000001.11:g.33950384AG[14], NC_000001.11:g.33950384AG[15], NC_000001.11:g.33950384AG[16], NC_000001.11:g.33950384AG[17], NC_000001.11:g.33950384AG[18], NC_000001.11:g.33950384AG[19], NC_000001.11:g.33950384AG[21], NC_000001.11:g.33950384AG[22], NC_000001.11:g.33950384AG[23], NC_000001.11:g.33950384AG[24], NC_000001.11:g.33950384AG[25], NC_000001.11:g.33950384AG[26], NC_000001.11:g.33950384AG[27], NC_000001.11:g.33950384AG[28], NC_000001.11:g.33950384AG[29], NC_000001.11:g.33950384AG[30], NC_000001.11:g.33950384AG[31], NC_000001.11:g.33950384AG[32], NC_000001.11:g.33950384AG[33], NC_000001.10:g.34415985AG[10], NC_000001.10:g.34415985AG[11], NC_000001.10:g.34415985AG[12], NC_000001.10:g.34415985AG[13], NC_000001.10:g.34415985AG[14], NC_000001.10:g.34415985AG[15], NC_000001.10:g.34415985AG[16], NC_000001.10:g.34415985AG[17], NC_000001.10:g.34415985AG[18], NC_000001.10:g.34415985AG[19], NC_000001.10:g.34415985AG[21], NC_000001.10:g.34415985AG[22], NC_000001.10:g.34415985AG[23], NC_000001.10:g.34415985AG[24], NC_000001.10:g.34415985AG[25], NC_000001.10:g.34415985AG[26], NC_000001.10:g.34415985AG[27], NC_000001.10:g.34415985AG[28], NC_000001.10:g.34415985AG[29], NC_000001.10:g.34415985AG[30], NC_000001.10:g.34415985AG[31], NC_000001.10:g.34415985AG[32], NC_000001.10:g.34415985AG[33], NG_053181.1:g.220420CT[10], NG_053181.1:g.220420CT[11], NG_053181.1:g.220420CT[12], NG_053181.1:g.220420CT[13], NG_053181.1:g.220420CT[14], NG_053181.1:g.220420CT[15], NG_053181.1:g.220420CT[16], NG_053181.1:g.220420CT[17], NG_053181.1:g.220420CT[18], NG_053181.1:g.220420CT[19], NG_053181.1:g.220420CT[21], NG_053181.1:g.220420CT[22], NG_053181.1:g.220420CT[23], NG_053181.1:g.220420CT[24], NG_053181.1:g.220420CT[25], NG_053181.1:g.220420CT[26], NG_053181.1:g.220420CT[27], NG_053181.1:g.220420CT[28], NG_053181.1:g.220420CT[29], NG_053181.1:g.220420CT[30], NG_053181.1:g.220420CT[31], NG_053181.1:g.220420CT[32], NG_053181.1:g.220420CT[33]

Select item 14915747752.

rs1491574775 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 1:33783431 (GRCh38)
1:34249032 (GRCh37)
Canonical SPDI:: NC_000001.11:33783430:TT:
Gene:: CSMD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000001.11:g.33783431_33783432del, NC_000001.10:g.34249032_34249033del, NG_053181.1:g.387411_387412del

Select item 14915742553.

rs1491574255 has merged into rs112461458 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>-,GTGT,GTGTGT [Show Flanks]
Chromosome:: 1:33979709 (GRCh38)
1:34445310 (GRCh37)
Canonical SPDI:: NC_000001.11:33979697:TGTGTGTGTGTGT:TGTGTGTGTGT,NC_000001.11:33979697:TGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000001.11:33979697:TGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT
Gene:: CSMD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGT=0./0 (ALFA)
TG=0.03821/70 (Korea1K)
TG=0.07764/1301 (TOMMO)
TG=0.16677/835 (1000Genomes)
TG=0.275/11 (GENOME_DK)
TG=0.32064/320 (GoNL)
TG=0.38333/230 (NorthernSweden)
HGVS:: NC_000001.11:g.33979699GT[5], NC_000001.11:g.33979699GT[7], NC_000001.11:g.33979699GT[8], NC_000001.10:g.34445300GT[5], NC_000001.10:g.34445300GT[7], NC_000001.10:g.34445300GT[8], NG_053181.1:g.191134CA[5], NG_053181.1:g.191134CA[7], NG_053181.1:g.191134CA[8]

Select item 14915475234.

rs1491547523 has merged into rs753962666 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:33820581 (GRCh38)
1:34286182 (GRCh37)
Canonical SPDI:: NC_000001.11:33820565:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:33820565:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:33820565:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:33820565:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:33820565:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:33820565:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:33820565:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:33820565:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:33820565:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:33820565:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:33820565:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:33820565:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:33820565:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:33820565:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:33820565:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:33820565:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:33820565:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:33820565:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:33820565:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CSMD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.33820581_33820588del, NC_000001.11:g.33820582_33820588del, NC_000001.11:g.33820583_33820588del, NC_000001.11:g.33820584_33820588del, NC_000001.11:g.33820585_33820588del, NC_000001.11:g.33820586_33820588del, NC_000001.11:g.33820587_33820588del, NC_000001.11:g.33820588del, NC_000001.11:g.33820588dup, NC_000001.11:g.33820587_33820588dup, NC_000001.11:g.33820586_33820588dup, NC_000001.11:g.33820585_33820588dup, NC_000001.11:g.33820584_33820588dup, NC_000001.11:g.33820583_33820588dup, NC_000001.11:g.33820582_33820588dup, NC_000001.11:g.33820581_33820588dup, NC_000001.11:g.33820580_33820588dup, NC_000001.11:g.33820579_33820588dup, NC_000001.11:g.33820577_33820588dup, NC_000001.10:g.34286182_34286189del, NC_000001.10:g.34286183_34286189del, NC_000001.10:g.34286184_34286189del, NC_000001.10:g.34286185_34286189del, NC_000001.10:g.34286186_34286189del, NC_000001.10:g.34286187_34286189del, NC_000001.10:g.34286188_34286189del, NC_000001.10:g.34286189del, NC_000001.10:g.34286189dup, NC_000001.10:g.34286188_34286189dup, NC_000001.10:g.34286187_34286189dup, NC_000001.10:g.34286186_34286189dup, NC_000001.10:g.34286185_34286189dup, NC_000001.10:g.34286184_34286189dup, NC_000001.10:g.34286183_34286189dup, NC_000001.10:g.34286182_34286189dup, NC_000001.10:g.34286181_34286189dup, NC_000001.10:g.34286180_34286189dup, NC_000001.10:g.34286178_34286189dup, NG_053181.1:g.350270_350277del, NG_053181.1:g.350271_350277del, NG_053181.1:g.350272_350277del, NG_053181.1:g.350273_350277del, NG_053181.1:g.350274_350277del, NG_053181.1:g.350275_350277del, NG_053181.1:g.350276_350277del, NG_053181.1:g.350277del, NG_053181.1:g.350277dup, NG_053181.1:g.350276_350277dup, NG_053181.1:g.350275_350277dup, NG_053181.1:g.350274_350277dup, NG_053181.1:g.350273_350277dup, NG_053181.1:g.350272_350277dup, NG_053181.1:g.350271_350277dup, NG_053181.1:g.350270_350277dup, NG_053181.1:g.350269_350277dup, NG_053181.1:g.350268_350277dup, NG_053181.1:g.350266_350277dup

Select item 14915418315.

rs1491541831 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 1:33862341 (GRCh38)
1:34327943 (GRCh37)
Canonical SPDI:: NC_000001.11:33862341:T:TGT,NC_000001.11:33862341:T:TGTGT,NC_000001.11:33862341:T:TGTGTGT,NC_000001.11:33862341:T:TGTGTGTGT,NC_000001.11:33862341:T:TGTGTGTGTGT,NC_000001.11:33862341:T:TGTGTGTGTGTGT,NC_000001.11:33862341:T:TGTGTGTGTGTGTGT,NC_000001.11:33862341:T:TGTGTGTGTGTGTGTGT,NC_000001.11:33862341:T:TGTGTGTGTGTGTGTGTGT
Gene:: CSMD2 (Varview), HMGB4 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGT=0./0 (ALFA)
HGVS:: NC_000001.11:g.33862342_33862343insGT, NC_000001.11:g.33862342_33862343insGTGT, NC_000001.11:g.33862343GT[3], NC_000001.11:g.33862343GT[4], NC_000001.11:g.33862343GT[5], NC_000001.11:g.33862343GT[6], NC_000001.11:g.33862343GT[7], NC_000001.11:g.33862343GT[8], NC_000001.11:g.33862343GT[9], NC_000001.10:g.34327943_34327944insGT, NC_000001.10:g.34327943_34327944insGTGT, NC_000001.10:g.34327944GT[3], NC_000001.10:g.34327944GT[4], NC_000001.10:g.34327944GT[5], NC_000001.10:g.34327944GT[6], NC_000001.10:g.34327944GT[7], NC_000001.10:g.34327944GT[8], NC_000001.10:g.34327944GT[9], NG_053181.1:g.308501_308502insCA, NG_053181.1:g.308501_308502insCACA, NG_053181.1:g.308502CA[3], NG_053181.1:g.308502CA[4], NG_053181.1:g.308502CA[5], NG_053181.1:g.308502CA[6], NG_053181.1:g.308502CA[7], NG_053181.1:g.308502CA[8], NG_053181.1:g.308502CA[9]

Select item 14915397846.

rs1491539784 has merged into rs35597190 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCC>-,CC,CCC,CCCCC,CCCCCC,CCCCCCC [Show Flanks]
Chromosome:: 1:33944237 (GRCh38)
1:34409838 (GRCh37)
Canonical SPDI:: NC_000001.11:33944230:CCCCCCCCCC:CCCCCC,NC_000001.11:33944230:CCCCCCCCCC:CCCCCCCC,NC_000001.11:33944230:CCCCCCCCCC:CCCCCCCCC,NC_000001.11:33944230:CCCCCCCCCC:CCCCCCCCCCC,NC_000001.11:33944230:CCCCCCCCCC:CCCCCCCCCCCC,NC_000001.11:33944230:CCCCCCCCCC:CCCCCCCCCCCCC
Gene:: CSMD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCC=0./0 (ALFA)
-=0.05/2 (GENOME_DK)
-=0.05333/32 (NorthernSweden)
-=0.06661/247 (TWINSUK)
-=0.07032/271 (ALSPAC)
-=0.07341/323 (Estonian)
HGVS:: NC_000001.11:g.33944237_33944240del, NC_000001.11:g.33944239_33944240del, NC_000001.11:g.33944240del, NC_000001.11:g.33944240dup, NC_000001.11:g.33944239_33944240dup, NC_000001.11:g.33944238_33944240dup, NC_000001.10:g.34409838_34409841del, NC_000001.10:g.34409840_34409841del, NC_000001.10:g.34409841del, NC_000001.10:g.34409841dup, NC_000001.10:g.34409840_34409841dup, NC_000001.10:g.34409839_34409841dup, NG_053181.1:g.226609_226612del, NG_053181.1:g.226611_226612del, NG_053181.1:g.226612del, NG_053181.1:g.226612dup, NG_053181.1:g.226611_226612dup, NG_053181.1:g.226610_226612dup

Select item 14915395407.

rs1491539540 has merged into rs34749287 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:33946802 (GRCh38)
1:34412403 (GRCh37)
Canonical SPDI:: NC_000001.11:33946790:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:33946790:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:33946790:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:33946790:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:33946790:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:33946790:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:33946790:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:33946790:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CSMD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0.000324/4 (ALFA)
-=0.000004/1 (TOPMED)
-=0.407149/2039 (1000Genomes)
HGVS:: NC_000001.11:g.33946802_33946805del, NC_000001.11:g.33946803_33946805del, NC_000001.11:g.33946804_33946805del, NC_000001.11:g.33946805del, NC_000001.11:g.33946805dup, NC_000001.11:g.33946804_33946805dup, NC_000001.11:g.33946799_33946805dup, NC_000001.11:g.33946795_33946805dup, NC_000001.10:g.34412403_34412406del, NC_000001.10:g.34412404_34412406del, NC_000001.10:g.34412405_34412406del, NC_000001.10:g.34412406del, NC_000001.10:g.34412406dup, NC_000001.10:g.34412405_34412406dup, NC_000001.10:g.34412400_34412406dup, NC_000001.10:g.34412396_34412406dup, NG_053181.1:g.224049_224052del, NG_053181.1:g.224050_224052del, NG_053181.1:g.224051_224052del, NG_053181.1:g.224052del, NG_053181.1:g.224052dup, NG_053181.1:g.224051_224052dup, NG_053181.1:g.224046_224052dup, NG_053181.1:g.224042_224052dup

Select item 14915355978.

rs1491535597 has merged into rs35597190 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCC>-,CC,CCC,CCCCC,CCCCCC,CCCCCCC [Show Flanks]
Chromosome:: 1:33944237 (GRCh38)
1:34409838 (GRCh37)
Canonical SPDI:: NC_000001.11:33944230:CCCCCCCCCC:CCCCCC,NC_000001.11:33944230:CCCCCCCCCC:CCCCCCCC,NC_000001.11:33944230:CCCCCCCCCC:CCCCCCCCC,NC_000001.11:33944230:CCCCCCCCCC:CCCCCCCCCCC,NC_000001.11:33944230:CCCCCCCCCC:CCCCCCCCCCCC,NC_000001.11:33944230:CCCCCCCCCC:CCCCCCCCCCCCC
Gene:: CSMD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCC=0./0 (ALFA)
-=0.05/2 (GENOME_DK)
-=0.05333/32 (NorthernSweden)
-=0.06661/247 (TWINSUK)
-=0.07032/271 (ALSPAC)
-=0.07341/323 (Estonian)
HGVS:: NC_000001.11:g.33944237_33944240del, NC_000001.11:g.33944239_33944240del, NC_000001.11:g.33944240del, NC_000001.11:g.33944240dup, NC_000001.11:g.33944239_33944240dup, NC_000001.11:g.33944238_33944240dup, NC_000001.10:g.34409838_34409841del, NC_000001.10:g.34409840_34409841del, NC_000001.10:g.34409841del, NC_000001.10:g.34409841dup, NC_000001.10:g.34409840_34409841dup, NC_000001.10:g.34409839_34409841dup, NG_053181.1:g.226609_226612del, NG_053181.1:g.226611_226612del, NG_053181.1:g.226612del, NG_053181.1:g.226612dup, NG_053181.1:g.226611_226612dup, NG_053181.1:g.226610_226612dup

Select item 14915294139.

rs1491529413 has merged into rs35461345 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:33628677 (GRCh38)
1:34094277 (GRCh37)
Canonical SPDI:: NC_000001.11:33628668:AAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000001.11:33628668:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:33628668:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:33628668:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:33628668:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:33628668:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:33628668:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:33628668:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:33628668:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:33628668:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:33628668:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:33628668:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CSMD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.3/12 (GENOME_DK)
HGVS:: NC_000001.11:g.33628677_33628688del, NC_000001.11:g.33628683_33628688del, NC_000001.11:g.33628684_33628688del, NC_000001.11:g.33628685_33628688del, NC_000001.11:g.33628686_33628688del, NC_000001.11:g.33628687_33628688del, NC_000001.11:g.33628688del, NC_000001.11:g.33628688dup, NC_000001.11:g.33628687_33628688dup, NC_000001.11:g.33628686_33628688dup, NC_000001.11:g.33628685_33628688dup, NC_000001.11:g.33628684_33628688dup, NC_000001.10:g.34094277_34094288del, NC_000001.10:g.34094283_34094288del, NC_000001.10:g.34094284_34094288del, NC_000001.10:g.34094285_34094288del, NC_000001.10:g.34094286_34094288del, NC_000001.10:g.34094287_34094288del, NC_000001.10:g.34094288del, NC_000001.10:g.34094288dup, NC_000001.10:g.34094287_34094288dup, NC_000001.10:g.34094286_34094288dup, NC_000001.10:g.34094285_34094288dup, NC_000001.10:g.34094284_34094288dup, NG_053181.1:g.542163_542174del, NG_053181.1:g.542169_542174del, NG_053181.1:g.542170_542174del, NG_053181.1:g.542171_542174del, NG_053181.1:g.542172_542174del, NG_053181.1:g.542173_542174del, NG_053181.1:g.542174del, NG_053181.1:g.542174dup, NG_053181.1:g.542173_542174dup, NG_053181.1:g.542172_542174dup, NG_053181.1:g.542171_542174dup, NG_053181.1:g.542170_542174dup

Select item 149152631110.

rs1491526311 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 1:33914411 (GRCh38)
1:34380013 (GRCh37)
Canonical SPDI:: NC_000001.11:33914411::G
Gene:: CSMD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.033118/3316 (GnomAD)
HGVS:: NC_000001.11:g.33914411_33914412insG, NC_000001.10:g.34380012_34380013insG, NG_053181.1:g.256431_256432insC

Select item 149151478611.

rs1491514786 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATGT,ATGTGT,ATGTGTGT [Show Flanks]
Chromosome:: 1:33768536 (GRCh38)
1:34234138 (GRCh37)
Canonical SPDI:: NC_000001.11:33768536:T:TATGT,NC_000001.11:33768536:T:TATGTGT,NC_000001.11:33768536:T:TATGTGTGT
Gene:: CSMD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATGTGT=0./0 (ALFA)
HGVS:: NC_000001.11:g.33768537_33768538insATGT, NC_000001.11:g.33768537_33768538insATGTGT, NC_000001.11:g.33768537_33768538insATGTGTGT, NC_000001.10:g.34234138_34234139insATGT, NC_000001.10:g.34234138_34234139insATGTGT, NC_000001.10:g.34234138_34234139insATGTGTGT, NG_053181.1:g.402306_402307insCATA, NG_053181.1:g.402306AC[2]ATA[1], NG_053181.1:g.402306AC[3]ATA[1]

Select item 149151437612.

rs1491514376 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAT [Show Flanks]
Chromosome:: 1:33823393 (GRCh38)
1:34288995 (GRCh37)
Canonical SPDI:: NC_000001.11:33823393:T:TAAT
Gene:: CSMD2 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.33823394_33823395insAAT, NC_000001.10:g.34288995_34288996insAAT, NG_053181.1:g.347449_347450insTTA

Select item 149151261813.

rs1491512618 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 1:33514280 (GRCh38)
1:33979880 (GRCh37)
Canonical SPDI:: NC_000001.11:33514279:CT:
Gene:: CSMD2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00007/1 (ALFA)
-=0.00004/4 (GnomAD)
HGVS:: NC_000001.11:g.33514280_33514281del, NC_000001.10:g.33979880_33979881del, NG_053181.1:g.656562_656563del, NM_052896.5:c.*2343_*2344del, NM_052896.4:c.*2343_*2344del, NM_052896.3:c.*2343_*2344del, NM_001281956.2:c.*2343_*2344del, NM_001281956.1:c.*2343_*2344del, XM_017000185.2:c.*5237_*5238del, XM_017000185.1:c.*5237_*5238del, XM_047443607.1:c.*2343_*2344del, XM_047443642.1:c.*2343_*2344del, XM_047443656.1:c.*2343_*2344del, XM_047443685.1:c.*2343_*2344del, XM_047443666.1:c.*2343_*2344del

Select item 149150945614.

rs1491509456 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGA>-,GA [Show Flanks]
Chromosome:: 1:33890053 (GRCh38)
1:34355654 (GRCh37)
Canonical SPDI:: NC_000001.11:33890051:AGAGA:A,NC_000001.11:33890051:AGAGA:AGA
Gene:: CSMD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGA=0.000109/2 (ALFA)
-=0.0001/12 (GnomAD)
-=0.000142/2 (TOMMO)
-=0.000312/2 (1000Genomes)
-=0.000468/2 (Estonian)
HGVS:: NC_000001.11:g.33890053_33890056del, NC_000001.11:g.33890053GA[1], NC_000001.10:g.34355654_34355657del, NC_000001.10:g.34355654GA[1], NG_053181.1:g.280788_280791del, NG_053181.1:g.280788CT[1]

Select item 149149984915.

rs1491499849 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:34076910 (GRCh38)
1:34542512 (GRCh37)
Canonical SPDI:: NC_000001.11:34076910::C
Gene:: CSMD2 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.34076910_34076911insC, NC_000001.10:g.34542511_34542512insC, NG_053181.1:g.93932_93933insG

Select item 149149832516.

rs1491498325 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:33908085 (GRCh38)
1:34373686 (GRCh37)
Canonical SPDI:: NC_000001.11:33908084:CA:
Gene:: CSMD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00548/65 (ALFA)
-=0.00183/30 (TOMMO)
HGVS:: NC_000001.11:g.33908085_33908086del, NC_000001.10:g.34373686_34373687del, NG_053181.1:g.262757_262758del

Select item 149148873417.

rs1491488734 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAG [Show Flanks]
Chromosome:: 1:33513852 (GRCh38)
1:33979453 (GRCh37)
Canonical SPDI:: NC_000001.11:33513852:GAG:GAGGAG
Gene:: CSMD2 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGGAG=0.0002/1 (ALFA)
GAG=0.0002/1 (Estonian)
HGVS:: NC_000001.11:g.33513853_33513855dup, NC_000001.10:g.33979453_33979455dup, NG_053181.1:g.656988_656990dup

Select item 149148822718.

rs1491488227 has merged into rs56072818 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATATATATATATA>-,TATATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATATA,TATATATATATATATATATATATA,TATATATATATATATATATATATATA,TATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATATATA [Show Flanks]
Chromosome:: 1:33544840 (GRCh38)
1:34010440 (GRCh37)
Canonical SPDI:: NC_000001.11:33544831:TATATATATATATATATATATATA:TATATATA,NC_000001.11:33544831:TATATATATATATATATATATATA:TATATATATATATA,NC_000001.11:33544831:TATATATATATATATATATATATA:TATATATATATATATA,NC_000001.11:33544831:TATATATATATATATATATATATA:TATATATATATATATATA,NC_000001.11:33544831:TATATATATATATATATATATATA:TATATATATATATATATATA,NC_000001.11:33544831:TATATATATATATATATATATATA:TATATATATATATATATATATA,NC_000001.11:33544831:TATATATATATATATATATATATA:TATATATATATATATATATATATATA,NC_000001.11:33544831:TATATATATATATATATATATATA:TATATATATATATATATATATATATATA,NC_000001.11:33544831:TATATATATATATATATATATATA:TATATATATATATATATATATATATATATA,NC_000001.11:33544831:TATATATATATATATATATATATA:TATATATATATATATATATATATATATATATA,NC_000001.11:33544831:TATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATA,NC_000001.11:33544831:TATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATA,NC_000001.11:33544831:TATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATA,NC_000001.11:33544831:TATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATA,NC_000001.11:33544831:TATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATA,NC_000001.11:33544831:TATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATA,NC_000001.11:33544831:TATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATA,NC_000001.11:33544831:TATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATA,NC_000001.11:33544831:TATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000001.11:33544831:TATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000001.11:33544831:TATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000001.11:33544831:TATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000001.11:33544831:TATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000001.11:33544831:TATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA
Gene:: CSMD2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATA=0./0 (ALFA)
-=0.0532/205 (ALSPAC)
-=0.15/6 (GENOME_DK)
HGVS:: NC_000001.11:g.33544832TA[4], NC_000001.11:g.33544832TA[7], NC_000001.11:g.33544832TA[8], NC_000001.11:g.33544832TA[9], NC_000001.11:g.33544832TA[10], NC_000001.11:g.33544832TA[11], NC_000001.11:g.33544832TA[13], NC_000001.11:g.33544832TA[14], NC_000001.11:g.33544832TA[15], NC_000001.11:g.33544832TA[16], NC_000001.11:g.33544832TA[17], NC_000001.11:g.33544832TA[18], NC_000001.11:g.33544832TA[19], NC_000001.11:g.33544832TA[20], NC_000001.11:g.33544832TA[21], NC_000001.11:g.33544832TA[22], NC_000001.11:g.33544832TA[23], NC_000001.11:g.33544832TA[24], NC_000001.11:g.33544832TA[25], NC_000001.11:g.33544832TA[26], NC_000001.11:g.33544832TA[27], NC_000001.11:g.33544832TA[28], NC_000001.11:g.33544832TA[29], NC_000001.11:g.33544832TA[32], NC_000001.10:g.34010432TA[4], NC_000001.10:g.34010432TA[7], NC_000001.10:g.34010432TA[8], NC_000001.10:g.34010432TA[9], NC_000001.10:g.34010432TA[10], NC_000001.10:g.34010432TA[11], NC_000001.10:g.34010432TA[13], NC_000001.10:g.34010432TA[14], NC_000001.10:g.34010432TA[15], NC_000001.10:g.34010432TA[16], NC_000001.10:g.34010432TA[17], NC_000001.10:g.34010432TA[18], NC_000001.10:g.34010432TA[19], NC_000001.10:g.34010432TA[20], NC_000001.10:g.34010432TA[21], NC_000001.10:g.34010432TA[22], NC_000001.10:g.34010432TA[23], NC_000001.10:g.34010432TA[24], NC_000001.10:g.34010432TA[25], NC_000001.10:g.34010432TA[26], NC_000001.10:g.34010432TA[27], NC_000001.10:g.34010432TA[28], NC_000001.10:g.34010432TA[29], NC_000001.10:g.34010432TA[32], NG_053181.1:g.625988TA[4], NG_053181.1:g.625988TA[7], NG_053181.1:g.625988TA[8], NG_053181.1:g.625988TA[9], NG_053181.1:g.625988TA[10], NG_053181.1:g.625988TA[11], NG_053181.1:g.625988TA[13], NG_053181.1:g.625988TA[14], NG_053181.1:g.625988TA[15], NG_053181.1:g.625988TA[16], NG_053181.1:g.625988TA[17], NG_053181.1:g.625988TA[18], NG_053181.1:g.625988TA[19], NG_053181.1:g.625988TA[20], NG_053181.1:g.625988TA[21], NG_053181.1:g.625988TA[22], NG_053181.1:g.625988TA[23], NG_053181.1:g.625988TA[24], NG_053181.1:g.625988TA[25], NG_053181.1:g.625988TA[26], NG_053181.1:g.625988TA[27], NG_053181.1:g.625988TA[28], NG_053181.1:g.625988TA[29], NG_053181.1:g.625988TA[32]

Select item 149148718819.

rs1491487188 has merged into rs745495781 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:33665471 (GRCh38)
1:34131071 (GRCh37)
Canonical SPDI:: NC_000001.11:33665460:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:33665460:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:33665460:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:33665460:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:33665460:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:33665460:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:33665460:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:33665460:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:33665460:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:33665460:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:33665460:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:33665460:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:33665460:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:33665460:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:33665460:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:33665460:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:33665460:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:33665460:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:33665460:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:33665460:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:33665460:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:33665460:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:33665460:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:33665460:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:33665460:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:33665460:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CSMD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.45/18 (GENOME_DK)
HGVS:: NC_000001.11:g.33665471_33665486del, NC_000001.11:g.33665473_33665486del, NC_000001.11:g.33665474_33665486del, NC_000001.11:g.33665475_33665486del, NC_000001.11:g.33665476_33665486del, NC_000001.11:g.33665477_33665486del, NC_000001.11:g.33665478_33665486del, NC_000001.11:g.33665479_33665486del, NC_000001.11:g.33665480_33665486del, NC_000001.11:g.33665481_33665486del, NC_000001.11:g.33665482_33665486del, NC_000001.11:g.33665483_33665486del, NC_000001.11:g.33665484_33665486del, NC_000001.11:g.33665485_33665486del, NC_000001.11:g.33665486del, NC_000001.11:g.33665486dup, NC_000001.11:g.33665485_33665486dup, NC_000001.11:g.33665484_33665486dup, NC_000001.11:g.33665483_33665486dup, NC_000001.11:g.33665482_33665486dup, NC_000001.11:g.33665481_33665486dup, NC_000001.11:g.33665480_33665486dup, NC_000001.11:g.33665479_33665486dup, NC_000001.11:g.33665478_33665486dup, NC_000001.11:g.33665477_33665486dup, NC_000001.11:g.33665486_33665487insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.34131071_34131086del, NC_000001.10:g.34131073_34131086del, NC_000001.10:g.34131074_34131086del, NC_000001.10:g.34131075_34131086del, NC_000001.10:g.34131076_34131086del, NC_000001.10:g.34131077_34131086del, NC_000001.10:g.34131078_34131086del, NC_000001.10:g.34131079_34131086del, NC_000001.10:g.34131080_34131086del, NC_000001.10:g.34131081_34131086del, NC_000001.10:g.34131082_34131086del, NC_000001.10:g.34131083_34131086del, NC_000001.10:g.34131084_34131086del, NC_000001.10:g.34131085_34131086del, NC_000001.10:g.34131086del, NC_000001.10:g.34131086dup, NC_000001.10:g.34131085_34131086dup, NC_000001.10:g.34131084_34131086dup, NC_000001.10:g.34131083_34131086dup, NC_000001.10:g.34131082_34131086dup, NC_000001.10:g.34131081_34131086dup, NC_000001.10:g.34131080_34131086dup, NC_000001.10:g.34131079_34131086dup, NC_000001.10:g.34131078_34131086dup, NC_000001.10:g.34131077_34131086dup, NC_000001.10:g.34131086_34131087insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_053181.1:g.505367_505382del, NG_053181.1:g.505369_505382del, NG_053181.1:g.505370_505382del, NG_053181.1:g.505371_505382del, NG_053181.1:g.505372_505382del, NG_053181.1:g.505373_505382del, NG_053181.1:g.505374_505382del, NG_053181.1:g.505375_505382del, NG_053181.1:g.505376_505382del, NG_053181.1:g.505377_505382del, NG_053181.1:g.505378_505382del, NG_053181.1:g.505379_505382del, NG_053181.1:g.505380_505382del, NG_053181.1:g.505381_505382del, NG_053181.1:g.505382del, NG_053181.1:g.505382dup, NG_053181.1:g.505381_505382dup, NG_053181.1:g.505380_505382dup, NG_053181.1:g.505379_505382dup, NG_053181.1:g.505378_505382dup, NG_053181.1:g.505377_505382dup, NG_053181.1:g.505376_505382dup, NG_053181.1:g.505375_505382dup, NG_053181.1:g.505374_505382dup, NG_053181.1:g.505373_505382dup, NG_053181.1:g.505382_505383insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149148590020.

rs1491485900 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:33566306 (GRCh38)
1:34031906 (GRCh37)
Canonical SPDI:: NC_000001.11:33566305:CA:
Gene:: CSMD2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000001.11:g.33566306_33566307del, NC_000001.10:g.34031906_34031907del, NG_053181.1:g.604536_604537del

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