SNP Links for Gene (Select 79019) - SNP

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Select item 14915551721.

rs1491555172 has merged into rs1042752494 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,TT,TTTT [Show Flanks]
Chromosome:: 22:41937855 (GRCh38)
22:42333859 (GRCh37)
Canonical SPDI:: NC_000022.11:41937848:TTTTTTTTT:TTTTTT,NC_000022.11:41937848:TTTTTTTTT:TTTTTTTT,NC_000022.11:41937848:TTTTTTTTT:TTTTTTTTTT
Gene:: CENPM (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
HGVS:: NC_000022.11:g.41937855_41937857del, NC_000022.11:g.41937857del, NC_000022.11:g.41937857dup, NC_000022.10:g.42333859_42333861del, NC_000022.10:g.42333861del, NC_000022.10:g.42333861dup

Select item 14914477712.

rs1491447771 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 22:41944782 (GRCh38)
22:42340786 (GRCh37)
Canonical SPDI:: NC_000022.11:41944780:TAT:T
Gene:: CENPM (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0./0 (GnomAD)
-=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.41944782_41944783del, NC_000022.10:g.42340786_42340787del

Select item 14913097303.

rs1491309730 [Homo sapiens]

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

Select item 14911272704.

rs1491127270 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 22:41937848 (GRCh38)
22:42333852 (GRCh37)
Canonical SPDI:: NC_000022.11:41937847:CT:
Gene:: CENPM (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000036/5 (GnomAD)
-=0.00006/16 (TOPMED)
HGVS:: NC_000022.11:g.41937848_41937849del, NC_000022.10:g.42333852_42333853del

Select item 14910900345.

rs1491090034 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 22:41944781 (GRCh38)
22:42340786 (GRCh37)
Canonical SPDI:: NC_000022.11:41944781::C
Gene:: CENPM (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.41944781_41944782insC, NC_000022.10:g.42340785_42340786insC

Select item 14910765836.

rs1491076583 [Homo sapiens]

Variant type:: INS
Alleles:: ->AG [Show Flanks]
Chromosome:: 22:41939863 (GRCh38)
22:42335868 (GRCh37)
Canonical SPDI:: NC_000022.11:41939863::AG
Gene:: CENPM (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AG=0.02023/240 (ALFA)
HGVS:: NC_000022.11:g.41939863_41939864insAG, NC_000022.10:g.42335867_42335868insAG

Select item 14910540267.

rs1491054026 [Homo sapiens]

Variant type:: INS
Alleles:: ->AG [Show Flanks]
Chromosome:: 22:41939885 (GRCh38)
22:42335890 (GRCh37)
Canonical SPDI:: NC_000022.11:41939885::AG
Gene:: CENPM (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AG=0./0 (ALFA)
HGVS:: NC_000022.11:g.41939885_41939886insAG, NC_000022.10:g.42335889_42335890insAG

Select item 14910351648.

rs1491035164 has merged into rs139232803 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 22:41944445 (GRCh38)
22:42340449 (GRCh37)
Canonical SPDI:: NC_000022.11:41944435:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000022.11:41944435:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000022.11:41944435:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000022.11:41944435:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000022.11:41944435:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000022.11:41944435:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000022.11:41944435:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000022.11:41944435:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000022.11:41944435:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000022.11:41944435:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:41944435:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:41944435:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:41944435:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:41944435:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:41944435:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:41944435:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CENPM (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.5/20 (GENOME_DK)
HGVS:: NC_000022.11:g.41944445_41944455del, NC_000022.11:g.41944448_41944455del, NC_000022.11:g.41944450_41944455del, NC_000022.11:g.41944451_41944455del, NC_000022.11:g.41944452_41944455del, NC_000022.11:g.41944453_41944455del, NC_000022.11:g.41944454_41944455del, NC_000022.11:g.41944455del, NC_000022.11:g.41944455dup, NC_000022.11:g.41944454_41944455dup, NC_000022.11:g.41944453_41944455dup, NC_000022.11:g.41944452_41944455dup, NC_000022.11:g.41944451_41944455dup, NC_000022.11:g.41944450_41944455dup, NC_000022.11:g.41944449_41944455dup, NC_000022.11:g.41944448_41944455dup, NC_000022.10:g.42340449_42340459del, NC_000022.10:g.42340452_42340459del, NC_000022.10:g.42340454_42340459del, NC_000022.10:g.42340455_42340459del, NC_000022.10:g.42340456_42340459del, NC_000022.10:g.42340457_42340459del, NC_000022.10:g.42340458_42340459del, NC_000022.10:g.42340459del, NC_000022.10:g.42340459dup, NC_000022.10:g.42340458_42340459dup, NC_000022.10:g.42340457_42340459dup, NC_000022.10:g.42340456_42340459dup, NC_000022.10:g.42340455_42340459dup, NC_000022.10:g.42340454_42340459dup, NC_000022.10:g.42340453_42340459dup, NC_000022.10:g.42340452_42340459dup

Select item 14910235459.

rs1491023545 has merged into rs1316351988 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>-,GAGA,GAGAGA [Show Flanks]
Chromosome:: 22:41939886 (GRCh38)
22:42335890 (GRCh37)
Canonical SPDI:: NC_000022.11:41939884:AGA:A,NC_000022.11:41939884:AGA:AGAGA,NC_000022.11:41939884:AGA:AGAGAGA
Gene:: CENPM (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGA=0./0 (ALFA)
AG=0.00006/5 (GnomAD)
AG=0.00029/5 (TOMMO)
HGVS:: NC_000022.11:g.41939886_41939887del, NC_000022.11:g.41939886_41939887dup, NC_000022.11:g.41939886GA[3], NC_000022.10:g.42335890_42335891del, NC_000022.10:g.42335890_42335891dup, NC_000022.10:g.42335890GA[3]

Select item 149082232310.

rs1490822323 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 22:41948408 (GRCh38)
22:42344412 (GRCh37)
Canonical SPDI:: NC_000022.11:41948407:G:A,NC_000022.11:41948407:G:T
Gene:: CENPM (Varview), SMIM45 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000022.11:g.41948408G>A, NC_000022.11:g.41948408G>T, NC_000022.10:g.42344412G>A, NC_000022.10:g.42344412G>T

Select item 149069699711.

rs1490696997 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 22:41933997 (GRCh38)
22:42330001 (GRCh37)
Canonical SPDI:: NC_000022.11:41933996:A:T
Gene:: CENPM (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000023/6 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000022.11:g.41933997A>T, NC_000022.10:g.42330001A>T

Select item 149040669712.

rs1490406697 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 22:41937915 (GRCh38)
22:42333919 (GRCh37)
Canonical SPDI:: NC_000022.11:41937914:C:A,NC_000022.11:41937914:C:G,NC_000022.11:41937914:C:T
Gene:: CENPM (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000132/2 (ALFA)
T=0.000004/1 (TOPMED)
G=0.000446/2 (Estonian)
HGVS:: NC_000022.11:g.41937915C>A, NC_000022.11:g.41937915C>G, NC_000022.11:g.41937915C>T, NC_000022.10:g.42333919C>A, NC_000022.10:g.42333919C>G, NC_000022.10:g.42333919C>T

Select item 149034132113.

rs1490341321 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:41927907 (GRCh38)
22:42323911 (GRCh37)
Canonical SPDI:: NC_000022.11:41927906:C:T
Gene:: CENPM (Varview), TNFRSF13C (Varview)
Functional Consequence:: genic_downstream_transcript_variant,upstream_transcript_variant,synonymous_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000022.11:g.41927907C>T, NC_000022.10:g.42323911C>T, NG_007579.1:g.3911G>A, XM_011530368.3:c.609G>A, XM_011530368.2:c.609G>A, XM_011530368.1:c.609G>A

Select item 149008112514.

rs1490081125 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:41939709 (GRCh38)
22:42335713 (GRCh37)
Canonical SPDI:: NC_000022.11:41939708:T:C
Gene:: CENPM (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000042/11 (TOPMED)
HGVS:: NC_000022.11:g.41939709T>C, NC_000022.10:g.42335713T>C

Select item 148986000515.

rs1489860005 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:41940921 (GRCh38)
22:42336925 (GRCh37)
Canonical SPDI:: NC_000022.11:41940920:G:A
Gene:: CENPM (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000022.11:g.41940921G>A, NC_000022.10:g.42336925G>A

Select item 148984587816.

rs1489845878 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:41947529 (GRCh38)
22:42343533 (GRCh37)
Canonical SPDI:: NC_000022.11:41947528:G:A
Gene:: CENPM (Varview), SMIM45 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000022.11:g.41947529G>A, NC_000022.10:g.42343533G>A, NM_001395947.1:c.-294G>A

Select item 148975224317.

rs1489752243 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 22:41943014 (GRCh38)
22:42339018 (GRCh37)
Canonical SPDI:: NC_000022.11:41943013:C:A
Gene:: CENPM (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.00003/8 (TOPMED)
HGVS:: NC_000022.11:g.41943014C>A, NC_000022.10:g.42339018C>A

Select item 148951703918.

rs1489517039 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:41946344 (GRCh38)
22:42342348 (GRCh37)
Canonical SPDI:: NC_000022.11:41946343:A:G
Gene:: CENPM (Varview), SMIM45 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.41946344A>G, NC_000022.10:g.42342348A>G

Select item 148944697919.

rs1489446979 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 22:41948917 (GRCh38)
22:42344921 (GRCh37)
Canonical SPDI:: NC_000022.11:41948916:T:C,NC_000022.11:41948916:T:G
Gene:: CENPM (Varview), SMIM45 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000022.11:g.41948917T>C, NC_000022.11:g.41948917T>G, NC_000022.10:g.42344921T>C, NC_000022.10:g.42344921T>G

Select item 148932980220.

rs1489329802 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 22:41931977 (GRCh38)
22:42327981 (GRCh37)
Canonical SPDI:: NC_000022.11:41931976:A:C
Gene:: CENPM (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000022.11:g.41931977A>C, NC_000022.10:g.42327981A>C

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