SNP Links for Gene (Select 57513) - SNP

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Select item 14912024101.

rs1491202410 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 17:75511059 (GRCh38)
17:73507140 (GRCh37)
Canonical SPDI:: NC_000017.11:75511058:CT:
Gene:: CASKIN2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.75511059_75511060del, NC_000017.10:g.73507140_73507141del, NG_033152.1:g.9524_9525del

Select item 14909747662.

rs1490974766 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCC>-,TCCTCC [Show Flanks]
Chromosome:: 17:75502285 (GRCh38)
17:73498366 (GRCh37)
Canonical SPDI:: NC_000017.11:75502274:CTCCTCCTCCTCC:CTCCTCCTCC,NC_000017.11:75502274:CTCCTCCTCCTCC:CTCCTCCTCCTCCTCC
Gene:: CASKIN2 (Varview)
Functional Consequence:: inframe_insertion,inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCCTCCTCC=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.75502276TCC[3], NC_000017.11:g.75502276TCC[5], NC_000017.10:g.73498357TCC[3], NC_000017.10:g.73498357TCC[5], NG_054884.1:g.66118TCC[3], NG_054884.1:g.66118TCC[5], NG_033152.1:g.18298GAG[3], NG_033152.1:g.18298GAG[5], NM_020753.5:c.2788GAG[3], NM_020753.5:c.2788GAG[5], NM_020753.4:c.2788GAG[3], NM_020753.4:c.2788GAG[5], NM_001142643.3:c.2542GAG[3], NM_001142643.3:c.2542GAG[5], NM_001142643.2:c.2542GAG[3], NM_001142643.2:c.2542GAG[5], XM_047436459.1:c.2788GAG[3], XM_047436459.1:c.2788GAG[5], NP_065804.2:p.Glu933del, NP_065804.2:p.Glu933dup, NP_001136115.1:p.Glu851del, NP_001136115.1:p.Glu851dup, XP_047292415.1:p.Glu933del, XP_047292415.1:p.Glu933dup

Select item 14907353463.

rs1490735346 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:75510083 (GRCh38)
17:73506164 (GRCh37)
Canonical SPDI:: NC_000017.11:75510082:G:A
Gene:: CASKIN2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,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_000017.11:g.75510083G>A, NC_000017.10:g.73506164G>A, NG_033152.1:g.10501C>T

Select item 14904757134.

rs1490475713 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:75516597 (GRCh38)
17:73512678 (GRCh37)
Canonical SPDI:: NC_000017.11:75516596:C:T
Gene:: CASKIN2 (Varview), TSEN54 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.75516597C>T, NC_000017.10:g.73512678C>T, NG_033152.1:g.3987G>A, NG_013041.1:g.5070C>T, NM_207346.3:c.37C>T, NM_207346.2:c.37C>T, NG_057344.1:g.390C>T, NP_997229.2:p.Pro13Ser

Select item 14904526435.

rs1490452643 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:75502992 (GRCh38)
17:73499073 (GRCh37)
Canonical SPDI:: NC_000017.11:75502991:G:A
Gene:: CASKIN2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.75502992G>A, NC_000017.10:g.73499073G>A, NG_033152.1:g.17592C>T, NM_020753.5:c.2082C>T, NM_020753.4:c.2082C>T, NM_001142643.3:c.1836C>T, NM_001142643.2:c.1836C>T, XM_047436459.1:c.2082C>T

Select item 14904377116.

rs1490437711 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:75502370 (GRCh38)
17:73498451 (GRCh37)
Canonical SPDI:: NC_000017.11:75502369:G:A
Gene:: CASKIN2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.75502370G>A, NC_000017.10:g.73498451G>A, NG_054884.1:g.66212G>A, NG_033152.1:g.18214C>T, NM_020753.5:c.2704C>T, NM_020753.4:c.2704C>T, NM_001142643.3:c.2458C>T, NM_001142643.2:c.2458C>T, XM_047436459.1:c.2704C>T, NP_065804.2:p.Pro902Ser, NP_001136115.1:p.Pro820Ser, XP_047292415.1:p.Pro902Ser

Select item 14902978677.

rs1490297867 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:75501615 (GRCh38)
17:73497696 (GRCh37)
Canonical SPDI:: NC_000017.11:75501614:C:G
Gene:: CASKIN2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.75501615C>G, NC_000017.10:g.73497696C>G, NG_054884.1:g.65457C>G, NG_033152.1:g.18969G>C, NM_020753.5:c.3371G>C, NM_020753.4:c.3371G>C, NM_001142643.3:c.3125G>C, NM_001142643.2:c.3125G>C, XM_047436459.1:c.3371G>C, NP_065804.2:p.Gly1124Ala, NP_001136115.1:p.Gly1042Ala, XP_047292415.1:p.Gly1124Ala

Select item 14902234018.

rs1490223401 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:75502717 (GRCh38)
17:73498798 (GRCh37)
Canonical SPDI:: NC_000017.11:75502716:G:T
Gene:: CASKIN2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.75502717G>T, NC_000017.10:g.73498798G>T, NG_033152.1:g.17867C>A, NM_020753.5:c.2357C>A, NM_020753.4:c.2357C>A, NM_001142643.3:c.2111C>A, NM_001142643.2:c.2111C>A, XM_047436459.1:c.2357C>A, NP_065804.2:p.Ala786Asp, NP_001136115.1:p.Ala704Asp, XP_047292415.1:p.Ala786Asp

Select item 14897126219.

rs1489712621 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:75501343 (GRCh38)
17:73497424 (GRCh37)
Canonical SPDI:: NC_000017.11:75501342:C:G,NC_000017.11:75501342:C:T
Gene:: CASKIN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.75501343C>G, NC_000017.11:g.75501343C>T, NC_000017.10:g.73497424C>G, NC_000017.10:g.73497424C>T, NG_054884.1:g.65185C>G, NG_054884.1:g.65185C>T, NG_033152.1:g.19241G>C, NG_033152.1:g.19241G>A

Select item 148963327810.

rs1489633278 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:75500348 (GRCh38)
17:73496429 (GRCh37)
Canonical SPDI:: NC_000017.11:75500347:C:T
Gene:: TMEM94 (Varview), CASKIN2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.75500348C>T, NC_000017.10:g.73496429C>T, NG_054884.1:g.64190C>T, NM_014738.6:c.*1014C>T, NM_014738.5:c.*1014C>T, NM_014738.4:c.*1014C>T, NM_001321149.2:c.*1014C>T, NM_001321149.1:c.*1014C>T, NM_001321148.2:c.*1014C>T, NM_001321148.1:c.*1014C>T, NM_001351203.2:c.*1014C>T, NM_001351203.1:c.*1014C>T, NM_001351202.2:c.*1014C>T, NM_001351202.1:c.*1014C>T, NG_033152.1:g.20236G>A, NM_020753.5:c.*732G>A, NM_020753.4:c.*732G>A, NM_001142643.3:c.*732G>A, NM_001142643.2:c.*732G>A, XM_011525514.3:c.*1014C>T, XM_017025440.3:c.*1014C>T, XM_005257864.3:c.*1014C>T, XM_017025433.2:c.*1014C>T, XM_017025434.2:c.*1014C>T, XM_017025435.2:c.*1014C>T, XM_017025436.2:c.*1014C>T, XM_017025437.2:c.*1014C>T, XM_017025438.2:c.*1014C>T, XM_017025439.2:c.*1014C>T, XM_017025443.2:c.*1014C>T, XM_017025442.2:c.*1014C>T, XM_017025444.2:c.*1014C>T, XM_017025446.2:c.*1014C>T, XM_017025448.2:c.*1014C>T, XM_047437170.1:c.*1014C>T, XM_047437172.1:c.*1014C>T, XM_047437179.1:c.*1014C>T, XM_047437158.1:c.*1014C>T, XM_047437159.1:c.*1014C>T, XM_047437163.1:c.*1014C>T, XM_047437165.1:c.*1014C>T, XM_047437164.1:c.*1014C>T, XM_047437167.1:c.*1014C>T, XM_047437168.1:c.*1014C>T, XM_047437160.1:c.*1014C>T, XM_047437171.1:c.*1014C>T, XM_047437161.1:c.*1014C>T, XM_047437173.1:c.*1014C>T, XM_047437174.1:c.*1014C>T, XM_047437162.1:c.*1014C>T, XM_047437176.1:c.*1014C>T, XM_047437166.1:c.*1014C>T, XM_047437177.1:c.*1014C>T, XM_047437178.1:c.*1014C>T, XM_047437169.1:c.*1014C>T, XM_047437180.1:c.*1014C>T, XM_047437181.1:c.*1014C>T, XM_047437182.1:c.*1014C>T, XM_047437175.1:c.*1014C>T, XM_047437183.1:c.*1014C>T, XM_047437184.1:c.*1014C>T, XM_047437185.1:c.*1014C>T, XM_047437186.1:c.*1014C>T, XM_047437187.1:c.*1014C>T, XM_047436459.1:c.*732G>A

Select item 148956743111.

rs1489567431 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:75515180 (GRCh38)
17:73511261 (GRCh37)
Canonical SPDI:: NC_000017.11:75515179:C:A,NC_000017.11:75515179:C:T
Gene:: CASKIN2 (Varview), TSEN54 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.00015/21 (GnomAD)
HGVS:: NC_000017.11:g.75515180C>A, NC_000017.11:g.75515180C>T, NC_000017.10:g.73511261C>A, NC_000017.10:g.73511261C>T, NG_033152.1:g.5404G>T, NG_033152.1:g.5404G>A, NG_013041.1:g.3653C>A, NG_013041.1:g.3653C>T

Select item 148933535912.

rs1489335359 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:75503151 (GRCh38)
17:73499232 (GRCh37)
Canonical SPDI:: NC_000017.11:75503150:C:T
Gene:: CASKIN2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.75503151C>T, NC_000017.10:g.73499232C>T, NG_033152.1:g.17433G>A, NM_020753.5:c.1923G>A, NM_020753.4:c.1923G>A, NM_001142643.3:c.1677G>A, NM_001142643.2:c.1677G>A, XM_047436459.1:c.1923G>A

Select item 148918094913.

rs1489180949 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:75512710 (GRCh38)
17:73508791 (GRCh37)
Canonical SPDI:: NC_000017.11:75512709:C:G,NC_000017.11:75512709:C:T
Gene:: CASKIN2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.75512710C>G, NC_000017.11:g.75512710C>T, NC_000017.10:g.73508791C>G, NC_000017.10:g.73508791C>T, NG_033152.1:g.7874G>C, NG_033152.1:g.7874G>A, NG_013041.1:g.1183C>G, NG_013041.1:g.1183C>T

Select item 148913005014.

rs1489130050 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:75501049 (GRCh38)
17:73497130 (GRCh37)
Canonical SPDI:: NC_000017.11:75501048:C:G,NC_000017.11:75501048:C:T
Gene:: CASKIN2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000038/6 (GnomAD_exomes)
HGVS:: NC_000017.11:g.75501049C>G, NC_000017.11:g.75501049C>T, NC_000017.10:g.73497130C>G, NC_000017.10:g.73497130C>T, NG_054884.1:g.64891C>G, NG_054884.1:g.64891C>T, NG_033152.1:g.19535G>C, NG_033152.1:g.19535G>A, NM_020753.5:c.*31G>C, NM_020753.5:c.*31G>A, NM_020753.4:c.*31G>C, NM_020753.4:c.*31G>A, NM_001142643.3:c.*31G>C, NM_001142643.3:c.*31G>A, NM_001142643.2:c.*31G>C, NM_001142643.2:c.*31G>A, XM_047436459.1:c.*31G>C, XM_047436459.1:c.*31G>A

Select item 148905590415.

rs1489055904 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 17:75500474 (GRCh38)
17:73496555 (GRCh37)
Canonical SPDI:: NC_000017.11:75500473:A:C,NC_000017.11:75500473:A:T
Gene:: TMEM94 (Varview), CASKIN2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.75500474A>C, NC_000017.11:g.75500474A>T, NC_000017.10:g.73496555A>C, NC_000017.10:g.73496555A>T, NG_054884.1:g.64316A>C, NG_054884.1:g.64316A>T, NG_033152.1:g.20110T>G, NG_033152.1:g.20110T>A, NM_020753.5:c.*606T>G, NM_020753.5:c.*606T>A, NM_020753.4:c.*606T>G, NM_020753.4:c.*606T>A, NM_001142643.3:c.*606T>G, NM_001142643.3:c.*606T>A, NM_001142643.2:c.*606T>G, NM_001142643.2:c.*606T>A, XM_047436459.1:c.*606T>G, XM_047436459.1:c.*606T>A

Select item 148890078216.

rs1488900782 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:75510132 (GRCh38)
17:73506213 (GRCh37)
Canonical SPDI:: NC_000017.11:75510131:A:C
Gene:: CASKIN2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.75510132A>C, NC_000017.10:g.73506213A>C, NG_033152.1:g.10452T>G

Select item 148872526217.

rs1488725262 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:75500842 (GRCh38)
17:73496923 (GRCh37)
Canonical SPDI:: NC_000017.11:75500841:C:A
Gene:: TMEM94 (Varview), CASKIN2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.75500842C>A, NC_000017.10:g.73496923C>A, NG_054884.1:g.64684C>A, NG_033152.1:g.19742G>T, NM_020753.5:c.*238G>T, NM_020753.4:c.*238G>T, NM_001142643.3:c.*238G>T, NM_001142643.2:c.*238G>T, XM_047436459.1:c.*238G>T

Select item 148862242618.

rs1488622426 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:75506546 (GRCh38)
17:73502627 (GRCh37)
Canonical SPDI:: NC_000017.11:75506545:G:C
Gene:: CASKIN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.75506546G>C, NC_000017.10:g.73502627G>C, NG_033152.1:g.14038C>G

Select item 148830855919.

rs1488308559 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 17:75508143 (GRCh38)
17:73504224 (GRCh37)
Canonical SPDI:: NC_000017.11:75508142:T:
Gene:: CASKIN2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.75508143del, NC_000017.10:g.73504224del, NG_033152.1:g.12441del

Select item 148814686320.

rs1488146863 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:75503069 (GRCh38)
17:73499150 (GRCh37)
Canonical SPDI:: NC_000017.11:75503068:C:T
Gene:: CASKIN2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.75503069C>T, NC_000017.10:g.73499150C>T, NG_033152.1:g.17515G>A, NM_020753.5:c.2005G>A, NM_020753.4:c.2005G>A, NM_001142643.3:c.1759G>A, NM_001142643.2:c.1759G>A, XM_047436459.1:c.2005G>A, NP_065804.2:p.Gly669Ser, NP_001136115.1:p.Gly587Ser, XP_047292415.1:p.Gly669Ser

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