SNP Links for Gene (Select 4076) - SNP

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Select item 14915569101.

rs1491556910 has merged into rs35440557 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 11:34066941 (GRCh38)
11:34088488 (GRCh37)
Canonical SPDI:: NC_000011.10:34066931:TTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000011.10:34066931:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:34066931:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:34066931:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:34066931:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:34066931:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:34066931:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:34066931:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000011.10:34066931:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:34066931:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CAPRIN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.1915/959 (1000Genomes)
T=0.375/3 (KOREAN)
HGVS:: NC_000011.10:g.34066941_34066949del, NC_000011.10:g.34066946_34066949del, NC_000011.10:g.34066947_34066949del, NC_000011.10:g.34066948_34066949del, NC_000011.10:g.34066949del, NC_000011.10:g.34066949dup, NC_000011.10:g.34066948_34066949dup, NC_000011.10:g.34066947_34066949dup, NC_000011.10:g.34066946_34066949dup, NC_000011.10:g.34066942_34066949dup, NC_000011.9:g.34088488_34088496del, NC_000011.9:g.34088493_34088496del, NC_000011.9:g.34088494_34088496del, NC_000011.9:g.34088495_34088496del, NC_000011.9:g.34088496del, NC_000011.9:g.34088496dup, NC_000011.9:g.34088495_34088496dup, NC_000011.9:g.34088494_34088496dup, NC_000011.9:g.34088493_34088496dup, NC_000011.9:g.34088489_34088496dup

Select item 14915519532.

rs1491551953 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 11:34090044 (GRCh38)
11:34111591 (GRCh37)
Canonical SPDI:: NC_000011.10:34090038:AGAGAGA:AGAGA
Gene:: CAPRIN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.34090040GA[2], NC_000011.9:g.34111587GA[2]

Select item 14915341063.

rs1491534106 has merged into rs547881239 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 11:34089294 (GRCh38)
11:34110841 (GRCh37)
Canonical SPDI:: NC_000011.10:34089283:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000011.10:34089283:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:34089283:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:34089283:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:34089283:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:34089283:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:34089283:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:34089283:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:34089283:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:34089283:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:34089283:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:34089283:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:34089283:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:34089283:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:34089283:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CAPRIN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
AAA=0.0264/132 (1000Genomes)
HGVS:: NC_000011.10:g.34089294_34089306del, NC_000011.10:g.34089295_34089306del, NC_000011.10:g.34089296_34089306del, NC_000011.10:g.34089297_34089306del, NC_000011.10:g.34089298_34089306del, NC_000011.10:g.34089299_34089306del, NC_000011.10:g.34089300_34089306del, NC_000011.10:g.34089301_34089306del, NC_000011.10:g.34089302_34089306del, NC_000011.10:g.34089303_34089306del, NC_000011.10:g.34089304_34089306del, NC_000011.10:g.34089305_34089306del, NC_000011.10:g.34089306del, NC_000011.10:g.34089306dup, NC_000011.10:g.34089304_34089306dup, NC_000011.9:g.34110841_34110853del, NC_000011.9:g.34110842_34110853del, NC_000011.9:g.34110843_34110853del, NC_000011.9:g.34110844_34110853del, NC_000011.9:g.34110845_34110853del, NC_000011.9:g.34110846_34110853del, NC_000011.9:g.34110847_34110853del, NC_000011.9:g.34110848_34110853del, NC_000011.9:g.34110849_34110853del, NC_000011.9:g.34110850_34110853del, NC_000011.9:g.34110851_34110853del, NC_000011.9:g.34110852_34110853del, NC_000011.9:g.34110853del, NC_000011.9:g.34110853dup, NC_000011.9:g.34110851_34110853dup

Select item 14913878314.

rs1491387831 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 11:34062624 (GRCh38)
11:34084171 (GRCh37)
Canonical SPDI:: NC_000011.10:34062623:CA:
Gene:: CAPRIN1 (Varview), LOC124902660 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000011.10:g.34062624_34062625del, NC_000011.9:g.34084171_34084172del

Select item 14913448255.

rs1491344825 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 11:34070706 (GRCh38)
11:34092254 (GRCh37)
Canonical SPDI:: NC_000011.10:34070706:T:TT
Gene:: CAPRIN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
HGVS:: NC_000011.10:g.34070707dup, NC_000011.9:g.34092254dup

Select item 14912814026.

rs1491281402 has merged into rs36059851 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,A,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 11:34062633 (GRCh38)
11:34084180 (GRCh37)
Canonical SPDI:: NC_000011.10:34062624:AAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000011.10:34062624:AAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000011.10:34062624:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:34062624:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:34062624:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:34062624:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:34062624:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:34062624:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:34062624:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:34062624:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:34062624:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAA
Gene:: CAPRIN1 (Varview), LOC124902660 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000011.10:g.34062633_34062642del, NC_000011.10:g.34062634_34062642del, NC_000011.10:g.34062637_34062642del, NC_000011.10:g.34062638_34062642del, NC_000011.10:g.34062639_34062642del, NC_000011.10:g.34062640_34062642del, NC_000011.10:g.34062641_34062642del, NC_000011.10:g.34062642del, NC_000011.10:g.34062642dup, NC_000011.10:g.34062636_34062642dup, NC_000011.10:g.34062625_34062642A[24]CAAAAAAAAAAAAAAAAAAAAAA[1], NC_000011.9:g.34084180_34084189del, NC_000011.9:g.34084181_34084189del, NC_000011.9:g.34084184_34084189del, NC_000011.9:g.34084185_34084189del, NC_000011.9:g.34084186_34084189del, NC_000011.9:g.34084187_34084189del, NC_000011.9:g.34084188_34084189del, NC_000011.9:g.34084189del, NC_000011.9:g.34084189dup, NC_000011.9:g.34084183_34084189dup, NC_000011.9:g.34084172_34084189A[24]CAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 14912563957.

rs1491256395 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 11:34066949 (GRCh38)
11:34088497 (GRCh37)
Canonical SPDI:: NC_000011.10:34066949:AA:AAA
Gene:: CAPRIN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAA=0./0 (ALFA)
A=0.000036/5 (GnomAD)
HGVS:: NC_000011.10:g.34066951dup, NC_000011.9:g.34088498dup

Select item 14912429858.

rs1491242985 has merged into rs59107049 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 11:34069916 (GRCh38)
11:34091463 (GRCh37)
Canonical SPDI:: NC_000011.10:34069907:AAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000011.10:34069907:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000011.10:34069907:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:34069907:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:34069907:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:34069907:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:34069907:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:34069907:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:34069907:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:34069907:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:34069907:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:34069907:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:34069907:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CAPRIN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
AA=0.2712/141 (NorthernSweden)
AA=0.4868/2438 (1000Genomes)
HGVS:: NC_000011.10:g.34069916_34069925del, NC_000011.10:g.34069918_34069925del, NC_000011.10:g.34069920_34069925del, NC_000011.10:g.34069921_34069925del, NC_000011.10:g.34069922_34069925del, NC_000011.10:g.34069923_34069925del, NC_000011.10:g.34069924_34069925del, NC_000011.10:g.34069925del, NC_000011.10:g.34069925dup, NC_000011.10:g.34069924_34069925dup, NC_000011.10:g.34069923_34069925dup, NC_000011.10:g.34069922_34069925dup, NC_000011.10:g.34069925_34069926insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.34091463_34091472del, NC_000011.9:g.34091465_34091472del, NC_000011.9:g.34091467_34091472del, NC_000011.9:g.34091468_34091472del, NC_000011.9:g.34091469_34091472del, NC_000011.9:g.34091470_34091472del, NC_000011.9:g.34091471_34091472del, NC_000011.9:g.34091472del, NC_000011.9:g.34091472dup, NC_000011.9:g.34091471_34091472dup, NC_000011.9:g.34091470_34091472dup, NC_000011.9:g.34091469_34091472dup, NC_000011.9:g.34091472_34091473insAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14911457479.

rs1491145747 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 11:34069907 (GRCh38)
11:34091454 (GRCh37)
Canonical SPDI:: NC_000011.10:34069906:TA:
Gene:: CAPRIN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000011.10:g.34069907_34069908del, NC_000011.9:g.34091454_34091455del

Select item 149109975210.

rs1491099752 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 11:34089283 (GRCh38)
11:34110830 (GRCh37)
Canonical SPDI:: NC_000011.10:34089282:CA:
Gene:: CAPRIN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00025/3 (ALFA)
-=0.00562/1 (GnomAD)
HGVS:: NC_000011.10:g.34089283_34089284del, NC_000011.9:g.34110830_34110831del

Select item 149107041211.

rs1491070412 has merged into rs3073356 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 11:34061981 (GRCh38)
11:34083528 (GRCh37)
Canonical SPDI:: NC_000011.10:34061969:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:34061969:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:34061969:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:34061969:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:34061969:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:34061969:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:34061969:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:34061969:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:34061969:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:34061969:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:34061969:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:34061969:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:34061969:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CAPRIN1 (Varview), LOC124902660 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.4595/2301 (1000Genomes)
HGVS:: NC_000011.10:g.34061981_34061987del, NC_000011.10:g.34061982_34061987del, NC_000011.10:g.34061983_34061987del, NC_000011.10:g.34061984_34061987del, NC_000011.10:g.34061985_34061987del, NC_000011.10:g.34061986_34061987del, NC_000011.10:g.34061987del, NC_000011.10:g.34061987dup, NC_000011.10:g.34061986_34061987dup, NC_000011.10:g.34061985_34061987dup, NC_000011.10:g.34061984_34061987dup, NC_000011.10:g.34061982_34061987dup, NC_000011.10:g.34061980_34061987dup, NC_000011.9:g.34083528_34083534del, NC_000011.9:g.34083529_34083534del, NC_000011.9:g.34083530_34083534del, NC_000011.9:g.34083531_34083534del, NC_000011.9:g.34083532_34083534del, NC_000011.9:g.34083533_34083534del, NC_000011.9:g.34083534del, NC_000011.9:g.34083534dup, NC_000011.9:g.34083533_34083534dup, NC_000011.9:g.34083532_34083534dup, NC_000011.9:g.34083531_34083534dup, NC_000011.9:g.34083529_34083534dup, NC_000011.9:g.34083527_34083534dup

Select item 149105771912.

rs1491057719 has merged into rs59649247 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA [Show Flanks]
Chromosome:: 11:34072328 (GRCh38)
11:34093875 (GRCh37)
Canonical SPDI:: NC_000011.10:34072316:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:34072316:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:34072316:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:34072316:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:34072316:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:34072316:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:34072316:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:34072316:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Gene:: CAPRIN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
AAAAA=0.000004/1 (TOPMED)
A=0.125899/70 (NorthernSweden)
A=0.211861/1061 (1000Genomes)
HGVS:: NC_000011.10:g.34072328_34072331del, NC_000011.10:g.34072330_34072331del, NC_000011.10:g.34072331del, NC_000011.10:g.34072331dup, NC_000011.10:g.34072330_34072331dup, NC_000011.10:g.34072329_34072331dup, NC_000011.10:g.34072328_34072331dup, NC_000011.10:g.34072327_34072331dup, NC_000011.9:g.34093875_34093878del, NC_000011.9:g.34093877_34093878del, NC_000011.9:g.34093878del, NC_000011.9:g.34093878dup, NC_000011.9:g.34093877_34093878dup, NC_000011.9:g.34093876_34093878dup, NC_000011.9:g.34093875_34093878dup, NC_000011.9:g.34093874_34093878dup

Select item 149104818313.

rs1491048183 has merged into rs35440557 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 11:34066941 (GRCh38)
11:34088488 (GRCh37)
Canonical SPDI:: NC_000011.10:34066931:TTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000011.10:34066931:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:34066931:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:34066931:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:34066931:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:34066931:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:34066931:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:34066931:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000011.10:34066931:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:34066931:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CAPRIN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.1915/959 (1000Genomes)
T=0.375/3 (KOREAN)
HGVS:: NC_000011.10:g.34066941_34066949del, NC_000011.10:g.34066946_34066949del, NC_000011.10:g.34066947_34066949del, NC_000011.10:g.34066948_34066949del, NC_000011.10:g.34066949del, NC_000011.10:g.34066949dup, NC_000011.10:g.34066948_34066949dup, NC_000011.10:g.34066947_34066949dup, NC_000011.10:g.34066946_34066949dup, NC_000011.10:g.34066942_34066949dup, NC_000011.9:g.34088488_34088496del, NC_000011.9:g.34088493_34088496del, NC_000011.9:g.34088494_34088496del, NC_000011.9:g.34088495_34088496del, NC_000011.9:g.34088496del, NC_000011.9:g.34088496dup, NC_000011.9:g.34088495_34088496dup, NC_000011.9:g.34088494_34088496dup, NC_000011.9:g.34088493_34088496dup, NC_000011.9:g.34088489_34088496dup

Select item 149103773514.

rs1491037735 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 11:34069924 (GRCh38)
11:34091472 (GRCh37)
Canonical SPDI:: NC_000011.10:34069924::T
Gene:: CAPRIN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000016/2 (GnomAD)
HGVS:: NC_000011.10:g.34069924_34069925insT, NC_000011.9:g.34091471_34091472insT

Select item 149096760915.

rs1490967609 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:34066522 (GRCh38)
11:34088069 (GRCh37)
Canonical SPDI:: NC_000011.10:34066521:C:T
Gene:: CAPRIN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000034/9 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000011.10:g.34066522C>T, NC_000011.9:g.34088069C>T

Select item 149093833516.

rs1490938335 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:34070431 (GRCh38)
11:34091978 (GRCh37)
Canonical SPDI:: NC_000011.10:34070430:C:T
Gene:: CAPRIN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.34070431C>T, NC_000011.9:g.34091978C>T

Select item 149084564017.

rs1490845640 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:34076500 (GRCh38)
11:34098047 (GRCh37)
Canonical SPDI:: NC_000011.10:34076499:A:G
Gene:: CAPRIN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.34076500A>G, NC_000011.9:g.34098047A>G

Select item 149084323918.

rs1490843239 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:34057017 (GRCh38)
11:34078564 (GRCh37)
Canonical SPDI:: NC_000011.10:34057016:A:G
Gene:: CAPRIN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.34057017A>G, NC_000011.9:g.34078564A>G

Select item 149083116919.

rs1490831169 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:34082333 (GRCh38)
11:34103880 (GRCh37)
Canonical SPDI:: NC_000011.10:34082332:G:A
Gene:: CAPRIN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000021/3 (GnomAD)
A=0.000142/2 (TOMMO)
HGVS:: NC_000011.10:g.34082333G>A, NC_000011.9:g.34103880G>A

Select item 149082351920.

rs1490823519 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:34052202 (GRCh38)
11:34073749 (GRCh37)
Canonical SPDI:: NC_000011.10:34052201:G:A,NC_000011.10:34052201:G:T
Gene:: CAPRIN1 (Varview), LOC101929918 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.34052202G>A, NC_000011.10:g.34052202G>T, NC_000011.9:g.34073749G>A, NC_000011.9:g.34073749G>T

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