SNP Links for Gene (Select 10217) - SNP

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Select item 14915611941.

rs1491561194 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 3:37948831 (GRCh38)
3:37990322 (GRCh37)
Canonical SPDI:: NC_000003.12:37948830:TG:
Gene:: CTDSPL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000003.12:g.37948831_37948832del, NC_000003.11:g.37990322_37990323del

Select item 14914837642.

rs1491483764 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 3:37952727 (GRCh38)
3:37994218 (GRCh37)
Canonical SPDI:: NC_000003.12:37952726:AG:
Gene:: CTDSPL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.37952727_37952728del, NC_000003.11:g.37994218_37994219del

Select item 14913453933.

rs1491345393 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTA,TTTTTTTTTTG,TTTTTTTTTTTTTTTTA [Show Flanks]
Chromosome:: 3:37948831 (GRCh38)
3:37990323 (GRCh37)
Canonical SPDI:: NC_000003.12:37948831::TTA,NC_000003.12:37948831::TTTTTTTTTTG,NC_000003.12:37948831::TTTTTTTTTTTTTTTTA
Gene:: CTDSPL (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000003.12:g.37948831_37948832insTTA, NC_000003.12:g.37948831_37948832insTTTTTTTTTTG, NC_000003.12:g.37948831_37948832insTTTTTTTTTTTTTTTTA, NC_000003.11:g.37990322_37990323insTTA, NC_000003.11:g.37990322_37990323insTTTTTTTTTTG, NC_000003.11:g.37990322_37990323insTTTTTTTTTTTTTTTTA

Select item 14912796724.

rs1491279672 has merged into rs1553684237 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAAA [Show Flanks]
Chromosome:: 3:37927710 (GRCh38)
3:37969201 (GRCh37)
Canonical SPDI:: NC_000003.12:37927705:AAAAAA:AAAA,NC_000003.12:37927705:AAAAAA:AAAAA,NC_000003.12:37927705:AAAAAA:AAAAAAAA
Gene:: CTDSPL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.00117/20 (TOMMO)
-=0.00218/4 (Korea1K)
HGVS:: NC_000003.12:g.37927710_37927711del, NC_000003.12:g.37927711del, NC_000003.12:g.37927710_37927711dup, NC_000003.11:g.37969201_37969202del, NC_000003.11:g.37969202del, NC_000003.11:g.37969201_37969202dup

Select item 14912427615.

rs1491242761 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 3:37952727 (GRCh38)
3:37994219 (GRCh37)
Canonical SPDI:: NC_000003.12:37952727:GGGG:GGGGG
Gene:: CTDSPL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGG=0.000142/2 (ALFA)
G=0.0002/28 (GnomAD)
G=0.000295/78 (TOPMED)
G=0.000312/2 (1000Genomes)
HGVS:: NC_000003.12:g.37952731dup, NC_000003.11:g.37994222dup

Select item 14911732206.

rs1491173220 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACACACACTC,ACACACGC,ACACACTC,ACACTC,ACTC [Show Flanks]
Chromosome:: 3:37921643 (GRCh38)
3:37963135 (GRCh37)
Canonical SPDI:: NC_000003.12:37921643:C:CACACACACTC,NC_000003.12:37921643:C:CACACACGC,NC_000003.12:37921643:C:CACACACTC,NC_000003.12:37921643:C:CACACTC,NC_000003.12:37921643:C:CACTC
Gene:: CTDSPL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACGC=0./0 (ALFA)
CACACACACT=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.37921644CA[4]CTC[1], NC_000003.12:g.37921644CA[3]CGC[1], NC_000003.12:g.37921644CA[3]CTC[1], NC_000003.12:g.37921644CA[2]CTC[1], NC_000003.12:g.37921644_37921645insACTC, NC_000003.11:g.37963135CA[4]CTC[1], NC_000003.11:g.37963135CA[3]CGC[1], NC_000003.11:g.37963135CA[3]CTC[1], NC_000003.11:g.37963135CA[2]CTC[1], NC_000003.11:g.37963135_37963136insACTC

Select item 14911671687.

rs1491167168 [Homo sapiens]

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

Select item 14911629798.

rs1491162979 [Homo sapiens]

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

Select item 14910619239.

rs1491061923 has merged into rs35235848 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 3:37882454 (GRCh38)
3:37923945 (GRCh37)
Canonical SPDI:: NC_000003.12:37882441:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:37882441:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:37882441:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:37882441:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:37882441:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:37882441:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:37882441:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:37882441:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:37882441:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:37882441:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:37882441:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CTDSPL (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
A=0.4587/2297 (1000Genomes)
-=0.475/19 (GENOME_DK)
HGVS:: NC_000003.12:g.37882454_37882459del, NC_000003.12:g.37882455_37882459del, NC_000003.12:g.37882457_37882459del, NC_000003.12:g.37882458_37882459del, NC_000003.12:g.37882459del, NC_000003.12:g.37882459dup, NC_000003.12:g.37882458_37882459dup, NC_000003.12:g.37882457_37882459dup, NC_000003.12:g.37882456_37882459dup, NC_000003.12:g.37882455_37882459dup, NC_000003.12:g.37882454_37882459dup, NC_000003.11:g.37923945_37923950del, NC_000003.11:g.37923946_37923950del, NC_000003.11:g.37923948_37923950del, NC_000003.11:g.37923949_37923950del, NC_000003.11:g.37923950del, NC_000003.11:g.37923950dup, NC_000003.11:g.37923949_37923950dup, NC_000003.11:g.37923948_37923950dup, NC_000003.11:g.37923947_37923950dup, NC_000003.11:g.37923946_37923950dup, NC_000003.11:g.37923945_37923950dup, NW_025791771.1:g.455111_455116del, NW_025791771.1:g.455112_455116del, NW_025791771.1:g.455114_455116del, NW_025791771.1:g.455115_455116del, NW_025791771.1:g.455116del, NW_025791771.1:g.455116dup, NW_025791771.1:g.455115_455116dup, NW_025791771.1:g.455114_455116dup, NW_025791771.1:g.455113_455116dup, NW_025791771.1:g.455112_455116dup, NW_025791771.1:g.455111_455116dup

Select item 149104981210.

rs1491049812 [Homo sapiens]

Variant type:: DELINS
Alleles:: TC>- [Show Flanks]
Chromosome:: 3:37921645 (GRCh38)
3:37963136 (GRCh37)
Canonical SPDI:: NC_000003.12:37921643:CTC:C
Gene:: CTDSPL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000003.12:g.37921645_37921646del, NC_000003.11:g.37963136_37963137del

Select item 149104152911.

rs1491041529 has merged into rs71635858 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTT>-,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 3:37948817 (GRCh38)
3:37990308 (GRCh37)
Canonical SPDI:: NC_000003.12:37948808:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000003.12:37948808:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:37948808:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:37948808:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:37948808:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:37948808:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:37948808:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:37948808:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:37948808:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:37948808:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:37948808:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:37948808:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:37948808:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:37948808:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:37948808:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:37948808:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:37948808:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:37948808:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:37948808:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:37948808:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:37948808:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:37948808:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:37948808:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:37948808:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:37948808:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:37948808:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:37948808:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:37948808:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:37948808:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:37948808:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:37948808:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:37948808:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:37948808:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:37948808:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:37948808:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CTDSPL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
-=0.5/20 (GENOME_DK)
HGVS:: NC_000003.12:g.37948817_37948831del, NC_000003.12:g.37948819_37948831del, NC_000003.12:g.37948821_37948831del, NC_000003.12:g.37948822_37948831del, NC_000003.12:g.37948823_37948831del, NC_000003.12:g.37948824_37948831del, NC_000003.12:g.37948825_37948831del, NC_000003.12:g.37948826_37948831del, NC_000003.12:g.37948827_37948831del, NC_000003.12:g.37948828_37948831del, NC_000003.12:g.37948829_37948831del, NC_000003.12:g.37948830_37948831del, NC_000003.12:g.37948831del, NC_000003.12:g.37948831dup, NC_000003.12:g.37948830_37948831dup, NC_000003.12:g.37948829_37948831dup, NC_000003.12:g.37948828_37948831dup, NC_000003.12:g.37948827_37948831dup, NC_000003.12:g.37948826_37948831dup, NC_000003.12:g.37948824_37948831dup, NC_000003.12:g.37948823_37948831dup, NC_000003.12:g.37948822_37948831dup, NC_000003.12:g.37948821_37948831dup, NC_000003.12:g.37948820_37948831dup, NC_000003.12:g.37948819_37948831dup, NC_000003.12:g.37948818_37948831dup, NC_000003.12:g.37948817_37948831dup, NC_000003.12:g.37948816_37948831dup, NC_000003.12:g.37948815_37948831dup, NC_000003.12:g.37948814_37948831dup, NC_000003.12:g.37948813_37948831dup, NC_000003.12:g.37948811_37948831dup, NC_000003.12:g.37948810_37948831dup, NC_000003.12:g.37948809_37948831dup, NC_000003.12:g.37948831_37948832insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.37990308_37990322del, NC_000003.11:g.37990310_37990322del, NC_000003.11:g.37990312_37990322del, NC_000003.11:g.37990313_37990322del, NC_000003.11:g.37990314_37990322del, NC_000003.11:g.37990315_37990322del, NC_000003.11:g.37990316_37990322del, NC_000003.11:g.37990317_37990322del, NC_000003.11:g.37990318_37990322del, NC_000003.11:g.37990319_37990322del, NC_000003.11:g.37990320_37990322del, NC_000003.11:g.37990321_37990322del, NC_000003.11:g.37990322del, NC_000003.11:g.37990322dup, NC_000003.11:g.37990321_37990322dup, NC_000003.11:g.37990320_37990322dup, NC_000003.11:g.37990319_37990322dup, NC_000003.11:g.37990318_37990322dup, NC_000003.11:g.37990317_37990322dup, NC_000003.11:g.37990315_37990322dup, NC_000003.11:g.37990314_37990322dup, NC_000003.11:g.37990313_37990322dup, NC_000003.11:g.37990312_37990322dup, NC_000003.11:g.37990311_37990322dup, NC_000003.11:g.37990310_37990322dup, NC_000003.11:g.37990309_37990322dup, NC_000003.11:g.37990308_37990322dup, NC_000003.11:g.37990307_37990322dup, NC_000003.11:g.37990306_37990322dup, NC_000003.11:g.37990305_37990322dup, NC_000003.11:g.37990304_37990322dup, NC_000003.11:g.37990302_37990322dup, NC_000003.11:g.37990301_37990322dup, NC_000003.11:g.37990300_37990322dup, NC_000003.11:g.37990322_37990323insTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149099534712.

rs1490995347 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:37961710 (GRCh38)
3:38003201 (GRCh37)
Canonical SPDI:: NC_000003.12:37961709:T:A
Gene:: CTDSPL (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:: NC_000003.12:g.37961710T>A, NC_000003.11:g.38003201T>A

Select item 149096983613.

rs1490969836 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:37960577 (GRCh38)
3:38002068 (GRCh37)
Canonical SPDI:: NC_000003.12:37960576:C:A
Gene:: CTDSPL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
A=0.000355/6 (TOMMO)
HGVS:: NC_000003.12:g.37960577C>A, NC_000003.11:g.38002068C>A

Select item 149090631414.

rs1490906314 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:37979360 (GRCh38)
3:38020851 (GRCh37)
Canonical SPDI:: NC_000003.12:37979359:T:C
Gene:: CTDSPL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (KOREAN)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.37979360T>C, NC_000003.11:g.38020851T>C

Select item 149088726015.

rs1490887260 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:37866368 (GRCh38)
3:37907859 (GRCh37)
Canonical SPDI:: NC_000003.12:37866367:A:G
Gene:: CTDSPL (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_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_000003.12:g.37866368A>G, NC_000003.11:g.37907859A>G, NW_025791771.1:g.439025A>G

Select item 149085441816.

rs1490854418 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:37978326 (GRCh38)
3:38019817 (GRCh37)
Canonical SPDI:: NC_000003.12:37978325:A:G
Gene:: CTDSPL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00003/8 (TOPMED)
HGVS:: NC_000003.12:g.37978326A>G, NC_000003.11:g.38019817A>G

Select item 149083865317.

rs1490838653 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:37926935 (GRCh38)
3:37968426 (GRCh37)
Canonical SPDI:: NC_000003.12:37926934:C:G
Gene:: CTDSPL (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_000003.12:g.37926935C>G, NC_000003.11:g.37968426C>G

Select item 149081397218.

rs1490813972 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:37902789 (GRCh38)
3:37944280 (GRCh37)
Canonical SPDI:: NC_000003.12:37902788:G:A
Gene:: CTDSPL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000084/1 (ALFA)
A=0.000023/6 (TOPMED)
A=0.00005/7 (GnomAD)
HGVS:: NC_000003.12:g.37902789G>A, NC_000003.11:g.37944280G>A, NW_025791771.1:g.475446G>A

Select item 149075660919.

rs1490756609 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:37892028 (GRCh38)
3:37933519 (GRCh37)
Canonical SPDI:: NC_000003.12:37892027:A:G
Gene:: CTDSPL (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000003.12:g.37892028A>G, NC_000003.11:g.37933519A>G, NW_025791771.1:g.464685A>G, XM_017005520.2:c.-6167A>G

Select item 149063590220.

rs1490635902 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:37880274 (GRCh38)
3:37921765 (GRCh37)
Canonical SPDI:: NC_000003.12:37880273:G:A
Gene:: CTDSPL (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000108/2 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
A=0.000446/2 (Estonian)
HGVS:: NC_000003.12:g.37880274G>A, NC_000003.11:g.37921765G>A, NW_025791771.1:g.452931G>A

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