SNP Links for Gene (Select 84191) - SNP

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Select item 14915712961.

rs1491571296 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 15:64078635 (GRCh38)
15:64370834 (GRCh37)
Canonical SPDI:: NC_000015.10:64078634:CA:
Gene:: CIAO2A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000015.10:g.64078635_64078636del, NC_000015.9:g.64370834_64370835del

Select item 14913173362.

rs1491317336 has merged into rs3985677 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 15:64094812 (GRCh38)
15:64387011 (GRCh37)
Canonical SPDI:: NC_000015.10:64094802:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000015.10:64094802:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:64094802:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:64094802:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:64094802:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:64094802:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:64094802:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:64094802:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:64094802:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:64094802:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:64094802:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:64094802:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:64094802:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:64094802:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SNX1 (Varview), CIAO2A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
AA=0.4766/2387 (1000Genomes)
HGVS:: NC_000015.10:g.64094812_64094824del, NC_000015.10:g.64094815_64094824del, NC_000015.10:g.64094817_64094824del, NC_000015.10:g.64094818_64094824del, NC_000015.10:g.64094819_64094824del, NC_000015.10:g.64094820_64094824del, NC_000015.10:g.64094821_64094824del, NC_000015.10:g.64094822_64094824del, NC_000015.10:g.64094823_64094824del, NC_000015.10:g.64094824del, NC_000015.10:g.64094824dup, NC_000015.10:g.64094823_64094824dup, NC_000015.10:g.64094822_64094824dup, NC_000015.10:g.64094821_64094824dup, NC_000015.9:g.64387011_64387023del, NC_000015.9:g.64387014_64387023del, NC_000015.9:g.64387016_64387023del, NC_000015.9:g.64387017_64387023del, NC_000015.9:g.64387018_64387023del, NC_000015.9:g.64387019_64387023del, NC_000015.9:g.64387020_64387023del, NC_000015.9:g.64387021_64387023del, NC_000015.9:g.64387022_64387023del, NC_000015.9:g.64387023del, NC_000015.9:g.64387023dup, NC_000015.9:g.64387022_64387023dup, NC_000015.9:g.64387021_64387023dup, NC_000015.9:g.64387020_64387023dup, NG_029708.1:g.3929_3941del, NG_029708.1:g.3932_3941del, NG_029708.1:g.3934_3941del, NG_029708.1:g.3935_3941del, NG_029708.1:g.3936_3941del, NG_029708.1:g.3937_3941del, NG_029708.1:g.3938_3941del, NG_029708.1:g.3939_3941del, NG_029708.1:g.3940_3941del, NG_029708.1:g.3941del, NG_029708.1:g.3941dup, NG_029708.1:g.3940_3941dup, NG_029708.1:g.3939_3941dup, NG_029708.1:g.3938_3941dup

Select item 14911940333.

rs1491194033 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 15:64094802 (GRCh38)
15:64387001 (GRCh37)
Canonical SPDI:: NC_000015.10:64094801:CA:
Gene:: SNX1 (Varview), CIAO2A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00649/77 (ALFA)
HGVS:: NC_000015.10:g.64094802_64094803del, NC_000015.9:g.64387001_64387002del, NG_029708.1:g.3919_3920del

Select item 14911899054.

rs1491189905 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 15:64087084 (GRCh38)
15:64379283 (GRCh37)
Canonical SPDI:: NC_000015.10:64087083:CT:
Gene:: CIAO2A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00001/1 (GnomAD)
HGVS:: NC_000015.10:g.64087084_64087085del, NC_000015.9:g.64379283_64379284del

Select item 14911657815.

rs1491165781 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 15:64077010 (GRCh38)
15:64369210 (GRCh37)
Canonical SPDI:: NC_000015.10:64077010::C
Gene:: CIAO2A (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)
C=0.00046/8 (TOMMO)
HGVS:: NC_000015.10:g.64077010_64077011insC, NC_000015.9:g.64369209_64369210insC

Select item 14911364966.

rs1491136496 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->GAAA
Chromosome:: no mapping
Canonical SPDI:

Select item 14911269737.

rs1491126973 has merged into rs1216160284 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 15:64081554 (GRCh38)
15:64373753 (GRCh37)
Canonical SPDI:: NC_000015.10:64081535:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000015.10:64081535:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000015.10:64081535:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000015.10:64081535:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:64081535:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:64081535:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CIAO2A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
TTTT=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.64081554_64081555del, NC_000015.10:g.64081555del, NC_000015.10:g.64081555dup, NC_000015.10:g.64081554_64081555dup, NC_000015.10:g.64081553_64081555dup, NC_000015.10:g.64081552_64081555dup, NC_000015.9:g.64373753_64373754del, NC_000015.9:g.64373754del, NC_000015.9:g.64373754dup, NC_000015.9:g.64373753_64373754dup, NC_000015.9:g.64373752_64373754dup, NC_000015.9:g.64373751_64373754dup

Select item 14911016198.

rs1491101619 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A,AA,AAA,AAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 15:64078635 (GRCh38)
15:64370835 (GRCh37)
Canonical SPDI:: NC_000015.10:64078635:AAA:AAAA,NC_000015.10:64078635:AAA:AAAAA,NC_000015.10:64078635:AAA:AAAAAA,NC_000015.10:64078635:AAA:AAAAAAA,NC_000015.10:64078635:AAA:AAAAAAAAAAAAAA
Gene:: CIAO2A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
AAAA=0.00545/89 (TOMMO)
HGVS:: NC_000015.10:g.64078638dup, NC_000015.10:g.64078637_64078638dup, NC_000015.10:g.64078636_64078638dup, NC_000015.10:g.64078638_64078639insAAAA, NC_000015.10:g.64078638_64078639insAAAAAAAAAAA, NC_000015.9:g.64370837dup, NC_000015.9:g.64370836_64370837dup, NC_000015.9:g.64370835_64370837dup, NC_000015.9:g.64370837_64370838insAAAA, NC_000015.9:g.64370837_64370838insAAAAAAAAAAA

Select item 14910904609.

rs1491090460 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 15:64081535 (GRCh38)
15:64373734 (GRCh37)
Canonical SPDI:: NC_000015.10:64081534:CT:
Gene:: CIAO2A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00927/110 (ALFA)
-=0.00093/7 (TOMMO)
-=0.06046/1302 (GnomAD)
HGVS:: NC_000015.10:g.64081535_64081536del, NC_000015.9:g.64373734_64373735del

Select item 149104753010.

rs1491047530 has merged into rs35461939 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 15:64086628 (GRCh38)
15:64378827 (GRCh37)
Canonical SPDI:: NC_000015.10:64086614:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000015.10:64086614:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000015.10:64086614:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000015.10:64086614:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000015.10:64086614:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000015.10:64086614:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
Gene:: CIAO2A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
TT=0.0665/333 (1000Genomes)
HGVS:: NC_000015.10:g.64086628_64086631del, NC_000015.10:g.64086629_64086631del, NC_000015.10:g.64086630_64086631del, NC_000015.10:g.64086631del, NC_000015.10:g.64086631dup, NC_000015.10:g.64086630_64086631dup, NC_000015.9:g.64378827_64378830del, NC_000015.9:g.64378828_64378830del, NC_000015.9:g.64378829_64378830del, NC_000015.9:g.64378830del, NC_000015.9:g.64378830dup, NC_000015.9:g.64378829_64378830dup

Select item 149092072411.

rs1490920724 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:64078817 (GRCh38)
15:64371016 (GRCh37)
Canonical SPDI:: NC_000015.10:64078816:G:A
Gene:: CIAO2A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.64078817G>A, NC_000015.9:g.64371016G>A

Select item 149080258312.

rs1490802583 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:64085446 (GRCh38)
15:64377645 (GRCh37)
Canonical SPDI:: NC_000015.10:64085445:G:A
Gene:: CIAO2A (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:: NC_000015.10:g.64085446G>A, NC_000015.9:g.64377645G>A

Select item 149068552913.

rs1490685529 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:64086803 (GRCh38)
15:64379002 (GRCh37)
Canonical SPDI:: NC_000015.10:64086802:G:A
Gene:: CIAO2A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00067/3 (ALFA)
A=0.00067/3 (Estonian)
A=0.00101/17 (TOMMO)
A=0.00109/2 (Korea1K)
HGVS:: NC_000015.10:g.64086803G>A, NC_000015.9:g.64379002G>A

Select item 149045522114.

rs1490455221 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 15:64091418 (GRCh38)
15:64383617 (GRCh37)
Canonical SPDI:: NC_000015.10:64091417:G:T
Gene:: CIAO2A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.64091418G>T, NC_000015.9:g.64383617G>T, NG_029708.1:g.535G>T

Select item 149036398215.

rs1490363982 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:64092154 (GRCh38)
15:64384353 (GRCh37)
Canonical SPDI:: NC_000015.10:64092153:A:C
Gene:: CIAO2A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.64092154A>C, NC_000015.9:g.64384353A>C, NG_029708.1:g.1271A>C

Select item 149032793116.

rs1490327931 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 15:64089528 (GRCh38)
15:64381727 (GRCh37)
Canonical SPDI:: NC_000015.10:64089527:T:A,NC_000015.10:64089527:T:C,NC_000015.10:64089527:T:G
Gene:: CIAO2A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000008/2 (TOPMED)
A=0.053388/156 (KOREAN)
HGVS:: NC_000015.10:g.64089528T>A, NC_000015.10:g.64089528T>C, NC_000015.10:g.64089528T>G, NC_000015.9:g.64381727T>A, NC_000015.9:g.64381727T>C, NC_000015.9:g.64381727T>G

Select item 149022020617.

rs1490220206 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 15:64087326 (GRCh38)
15:64379525 (GRCh37)
Canonical SPDI:: NC_000015.10:64087325:C:G,NC_000015.10:64087325:C:T
Gene:: CIAO2A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.64087326C>G, NC_000015.10:g.64087326C>T, NC_000015.9:g.64379525C>G, NC_000015.9:g.64379525C>T

Select item 149012286718.

rs1490122867 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:64073533 (GRCh38)
15:64365732 (GRCh37)
Canonical SPDI:: NC_000015.10:64073532:C:T
Gene:: CIAO2A (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.64073533C>T, NC_000015.9:g.64365732C>T, NM_001289108.2:c.*1985G>A, NM_001289108.1:c.*1985G>A

Select item 149010715219.

rs1490107152 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:64078579 (GRCh38)
15:64370778 (GRCh37)
Canonical SPDI:: NC_000015.10:64078578:T:C
Gene:: CIAO2A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.64078579T>C, NC_000015.9:g.64370778T>C

Select item 149005397320.

rs1490053973 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTAAA>- [Show Flanks]
Chromosome:: 15:64075557 (GRCh38)
15:64367756 (GRCh37)
Canonical SPDI:: NC_000015.10:64075553:AAAGTAAA:AAA
Gene:: CIAO2A (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000015.10:g.64075557_64075561del, NC_000015.9:g.64367756_64367760del

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