SNP Links for Gene (Select 6302) - SNP

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Select item 14913061151.

rs1491306115 has merged into rs545773931 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 12:57748713 (GRCh38)
12:58142496 (GRCh37)
Canonical SPDI:: NC_000012.12:57748708:TTTTTTTTTTTTTTT:TTTT,NC_000012.12:57748708:TTTTTTTTTTTTTTT:TTTTT,NC_000012.12:57748708:TTTTTTTTTTTTTTT:TTTTTTT,NC_000012.12:57748708:TTTTTTTTTTTTTTT:TTTTTTTT,NC_000012.12:57748708:TTTTTTTTTTTTTTT:TTTTTTTTT,NC_000012.12:57748708:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:57748708:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:57748708:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:57748708:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:57748708:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:57748708:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:57748708:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
Gene:: CDK4 (Varview), TSPAN31 (Varview), MIR6759 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant,2KB_upstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTT=0./0 (ALFA)
T=0.15/6 (GENOME_DK)
T=0.44768/2199 (1000Genomes)
HGVS:: NC_000012.12:g.57748713_57748723del, NC_000012.12:g.57748714_57748723del, NC_000012.12:g.57748716_57748723del, NC_000012.12:g.57748717_57748723del, NC_000012.12:g.57748718_57748723del, NC_000012.12:g.57748720_57748723del, NC_000012.12:g.57748721_57748723del, NC_000012.12:g.57748722_57748723del, NC_000012.12:g.57748723del, NC_000012.12:g.57748723dup, NC_000012.12:g.57748722_57748723dup, NC_000012.12:g.57748721_57748723dup, NC_000012.11:g.58142496_58142506del, NC_000012.11:g.58142497_58142506del, NC_000012.11:g.58142499_58142506del, NC_000012.11:g.58142500_58142506del, NC_000012.11:g.58142501_58142506del, NC_000012.11:g.58142503_58142506del, NC_000012.11:g.58142504_58142506del, NC_000012.11:g.58142505_58142506del, NC_000012.11:g.58142506del, NC_000012.11:g.58142506dup, NC_000012.11:g.58142505_58142506dup, NC_000012.11:g.58142504_58142506dup, NG_007484.2:g.8663_8673del, NG_007484.2:g.8664_8673del, NG_007484.2:g.8666_8673del, NG_007484.2:g.8667_8673del, NG_007484.2:g.8668_8673del, NG_007484.2:g.8670_8673del, NG_007484.2:g.8671_8673del, NG_007484.2:g.8672_8673del, NG_007484.2:g.8673del, NG_007484.2:g.8673dup, NG_007484.2:g.8672_8673dup, NG_007484.2:g.8671_8673dup, NM_005981.5:c.*1423_*1433del, NM_005981.5:c.*1424_*1433del, NM_005981.5:c.*1426_*1433del, NM_005981.5:c.*1427_*1433del, NM_005981.5:c.*1428_*1433del, NM_005981.5:c.*1430_*1433del, NM_005981.5:c.*1431_*1433del, NM_005981.5:c.*1432_*1433del, NM_005981.5:c.*1433del, NM_005981.5:c.*1433dup, NM_005981.5:c.*1432_*1433dup, NM_005981.5:c.*1431_*1433dup, NM_001330169.2:c.*1423_*1433del, NM_001330169.2:c.*1424_*1433del, NM_001330169.2:c.*1426_*1433del, NM_001330169.2:c.*1427_*1433del, NM_001330169.2:c.*1428_*1433del, NM_001330169.2:c.*1430_*1433del, NM_001330169.2:c.*1431_*1433del, NM_001330169.2:c.*1432_*1433del, NM_001330169.2:c.*1433del, NM_001330169.2:c.*1433dup, NM_001330169.2:c.*1432_*1433dup, NM_001330169.2:c.*1431_*1433dup, NM_001330168.2:c.*1423_*1433del, NM_001330168.2:c.*1424_*1433del, NM_001330168.2:c.*1426_*1433del, NM_001330168.2:c.*1427_*1433del, NM_001330168.2:c.*1428_*1433del, NM_001330168.2:c.*1430_*1433del, NM_001330168.2:c.*1431_*1433del, NM_001330168.2:c.*1432_*1433del, NM_001330168.2:c.*1433del, NM_001330168.2:c.*1433dup, NM_001330168.2:c.*1432_*1433dup, NM_001330168.2:c.*1431_*1433dup

Select item 14906354432.

rs1490635443 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:57746624 (GRCh38)
12:58140407 (GRCh37)
Canonical SPDI:: NC_000012.12:57746623:C:G
Gene:: TSPAN31 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000012.12:g.57746624C>G, NC_000012.11:g.58140407C>G, NG_007484.2:g.10758G>C, NG_029755.1:g.538G>C, NM_005981.5:c.348C>G, NM_005981.4:c.348C>G, NM_005981.3:c.348C>G, NM_001330169.2:c.114C>G, NM_001330169.1:c.114C>G, NM_001330168.2:c.99C>G, NM_001330168.1:c.99C>G, XM_024449123.2:c.114C>G, XM_024449123.1:c.114C>G, NP_005972.1:p.Ser116Arg, NP_001317098.1:p.Ser38Arg, NP_001317097.1:p.Ser33Arg, XP_024304891.1:p.Ser38Arg

Select item 14905756443.

rs1490575644 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:57745653 (GRCh38)
12:58139436 (GRCh37)
Canonical SPDI:: NC_000012.12:57745652:T:C
Gene:: TSPAN31 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.57745653T>C, NC_000012.11:g.58139436T>C, NG_029755.1:g.1509A>G

Select item 14905621084.

rs1490562108 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:57747291 (GRCh38)
12:58141074 (GRCh37)
Canonical SPDI:: NC_000012.12:57747290:G:A,NC_000012.12:57747290:G:C
Gene:: CDK4 (Varview), TSPAN31 (Varview)
Functional Consequence:: downstream_transcript_variant,3_prime_UTR_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000051/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.57747291G>A, NC_000012.12:g.57747291G>C, NC_000012.11:g.58141074G>A, NC_000012.11:g.58141074G>C, NG_007484.2:g.10091C>T, NG_007484.2:g.10091C>G, NM_005981.5:c.*1G>A, NM_005981.5:c.*1G>C, NM_005981.4:c.*1G>A, NM_005981.4:c.*1G>C, NM_005981.3:c.*1G>A, NM_005981.3:c.*1G>C, NM_001330169.2:c.*1G>A, NM_001330169.2:c.*1G>C, NM_001330169.1:c.*1G>A, NM_001330169.1:c.*1G>C, NM_001330168.2:c.*1G>A, NM_001330168.2:c.*1G>C, NM_001330168.1:c.*1G>A, NM_001330168.1:c.*1G>C, XM_024449123.2:c.*1G>A, XM_024449123.2:c.*1G>C, XM_024449123.1:c.*1G>A, XM_024449123.1:c.*1G>C

Select item 14902514335.

rs1490251433 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:57742094 (GRCh38)
12:58135877 (GRCh37)
Canonical SPDI:: NC_000012.12:57742093:G:A
Gene:: AGAP2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.57742094G>A, NC_000012.11:g.58135877G>A, NG_029755.1:g.5068C>T, NM_014770.4:c.-23C>T, NM_014770.3:c.-23C>T, XM_005268626.3:c.-23C>T, XM_005268626.2:c.-23C>T, XM_005268626.1:c.-23C>T

Select item 14902490736.

rs1490249073 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:57744817 (GRCh38)
12:58138600 (GRCh37)
Canonical SPDI:: NC_000012.12:57744816:T:A
Gene:: TSPAN31 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000012.12:g.57744817T>A, NC_000012.11:g.58138600T>A, NG_029755.1:g.2345A>T

Select item 14902327557.

rs1490232755 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:57747493 (GRCh38)
12:58141276 (GRCh37)
Canonical SPDI:: NC_000012.12:57747492:T:G
Gene:: CDK4 (Varview), TSPAN31 (Varview)
Functional Consequence:: downstream_transcript_variant,3_prime_UTR_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.57747493T>G, NC_000012.11:g.58141276T>G, NG_007484.2:g.9889A>C, NM_005981.5:c.*203T>G, NM_005981.4:c.*203T>G, NM_005981.3:c.*203T>G, NM_001330169.2:c.*203T>G, NM_001330169.1:c.*203T>G, NM_001330168.2:c.*203T>G, NM_001330168.1:c.*203T>G, XM_024449123.2:c.*203T>G, XM_024449123.1:c.*203T>G

Select item 14901915878.

rs1490191587 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:57743762 (GRCh38)
12:58137545 (GRCh37)
Canonical SPDI:: NC_000012.12:57743761:G:C
Gene:: TSPAN31 (Varview), AGAP2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_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_000012.12:g.57743762G>C, NC_000012.11:g.58137545G>C, NG_029755.1:g.3400C>G

Select item 14896923619.

rs1489692361 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:57748400 (GRCh38)
12:58142183 (GRCh37)
Canonical SPDI:: NC_000012.12:57748399:G:A
Gene:: CDK4 (Varview), TSPAN31 (Varview), MIR6759 (Varview)
Functional Consequence:: downstream_transcript_variant,3_prime_UTR_variant,500B_downstream_variant
Validated:: by frequency
MAF:: A=0.00005/7 (GnomAD)
HGVS:: NC_000012.12:g.57748400G>A, NC_000012.11:g.58142183G>A, NG_007484.2:g.8982C>T, NM_000075.4:c.*125C>T, NM_000075.3:c.*125C>T, NM_005981.5:c.*1110G>A, NM_001330169.2:c.*1110G>A, NM_001330168.2:c.*1110G>A, XM_024449123.2:c.*1110G>A, NM_032913.1:c.-447G>A, NM_052984.1:c.*349C>T

Select item 148888215610.

rs1488882156 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 12:57744559 (GRCh38)
12:58138342 (GRCh37)
Canonical SPDI:: NC_000012.12:57744558:T:A,NC_000012.12:57744558:T:G
Gene:: TSPAN31 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000162/3 (ALFA)
G=0.000029/4 (GnomAD)
G=0.00067/3 (Estonian)
HGVS:: NC_000012.12:g.57744559T>A, NC_000012.12:g.57744559T>G, NC_000012.11:g.58138342T>A, NC_000012.11:g.58138342T>G, NG_029755.1:g.2603A>T, NG_029755.1:g.2603A>C

Select item 148778881711.

rs1487788817 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:57743224 (GRCh38)
12:58137007 (GRCh37)
Canonical SPDI:: NC_000012.12:57743223:C:T
Gene:: TSPAN31 (Varview), AGAP2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.57743224C>T, NC_000012.11:g.58137007C>T, NG_029755.1:g.3938G>A

Select item 148730667712.

rs1487306677 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 12:57745762 (GRCh38)
12:58139545 (GRCh37)
Canonical SPDI:: NC_000012.12:57745761:C:G,NC_000012.12:57745761:C:T
Gene:: TSPAN31 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.57745762C>G, NC_000012.12:g.57745762C>T, NC_000012.11:g.58139545C>G, NC_000012.11:g.58139545C>T, NG_029755.1:g.1400G>C, NG_029755.1:g.1400G>A, NM_005981.5:c.81C>G, NM_005981.5:c.81C>T, NM_005981.4:c.81C>G, NM_005981.4:c.81C>T, NM_005981.3:c.81C>G, NM_005981.3:c.81C>T, NM_001330169.2:c.-154C>G, NM_001330169.2:c.-154C>T, NM_001330169.1:c.-154C>G, NM_001330169.1:c.-154C>T, XM_024449123.2:c.-154C>G, XM_024449123.2:c.-154C>T, XM_024449123.1:c.-154C>G, XM_024449123.1:c.-154C>T

Select item 148707373513.

rs1487073735 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 12:57746062 (GRCh38)
12:58139845 (GRCh37)
Canonical SPDI:: NC_000012.12:57746061:A:G,NC_000012.12:57746061:A:T
Gene:: TSPAN31 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000012.12:g.57746062A>G, NC_000012.12:g.57746062A>T, NC_000012.11:g.58139845A>G, NC_000012.11:g.58139845A>T, NG_029755.1:g.1100T>C, NG_029755.1:g.1100T>A

Select item 148664932214.

rs1486649322 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:57746695 (GRCh38)
12:58140478 (GRCh37)
Canonical SPDI:: NC_000012.12:57746694:A:G
Gene:: TSPAN31 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000012.12:g.57746695A>G, NC_000012.11:g.58140478A>G, NG_007484.2:g.10687T>C, NG_029755.1:g.467T>C, NM_005981.5:c.419A>G, NM_005981.4:c.419A>G, NM_005981.3:c.419A>G, NM_001330169.2:c.185A>G, NM_001330169.1:c.185A>G, NM_001330168.2:c.170A>G, NM_001330168.1:c.170A>G, XM_024449123.2:c.185A>G, XM_024449123.1:c.185A>G, NP_005972.1:p.Gln140Arg, NP_001317098.1:p.Gln62Arg, NP_001317097.1:p.Gln57Arg, XP_024304891.1:p.Gln62Arg

Select item 148584381715.

rs1485843817 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:57743591 (GRCh38)
12:58137374 (GRCh37)
Canonical SPDI:: NC_000012.12:57743590:T:C
Gene:: TSPAN31 (Varview), AGAP2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.57743591T>C, NC_000012.11:g.58137374T>C, NG_029755.1:g.3571A>G

Select item 148581188116.

rs1485811881 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:57744163 (GRCh38)
12:58137946 (GRCh37)
Canonical SPDI:: NC_000012.12:57744162:A:T
Gene:: TSPAN31 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.57744163A>T, NC_000012.11:g.58137946A>T, NG_029755.1:g.2999T>A

Select item 148492306617.

rs1484923066 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 12:57748713 (GRCh38)
12:58142497 (GRCh37)
Canonical SPDI:: NC_000012.12:57748713::C
Gene:: CDK4 (Varview), TSPAN31 (Varview), MIR6759 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_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_000012.12:g.57748713_57748714insC, NC_000012.11:g.58142496_58142497insC, NG_007484.2:g.8668_8669insG, NM_005981.5:c.*1423_*1424insC, NM_001330169.2:c.*1423_*1424insC, NM_001330168.2:c.*1423_*1424insC

Select item 148385022018.

rs1483850220 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:57743794 (GRCh38)
12:58137577 (GRCh37)
Canonical SPDI:: NC_000012.12:57743793:G:A
Gene:: TSPAN31 (Varview), AGAP2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000012.12:g.57743794G>A, NC_000012.11:g.58137577G>A, NG_029755.1:g.3368C>T

Select item 148335978919.

rs1483359789 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:57744021 (GRCh38)
12:58137804 (GRCh37)
Canonical SPDI:: NC_000012.12:57744020:C:T
Gene:: TSPAN31 (Varview), AGAP2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000012.12:g.57744021C>T, NC_000012.11:g.58137804C>T, NG_029755.1:g.3141G>A

Select item 148333157020.

rs1483331570 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:57747113 (GRCh38)
12:58140896 (GRCh37)
Canonical SPDI:: NC_000012.12:57747112:C:A
Gene:: TSPAN31 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.57747113C>A, NC_000012.11:g.58140896C>A, NG_007484.2:g.10269G>T, NG_029755.1:g.49G>T, NM_005981.5:c.540C>A, NM_005981.4:c.540C>A, NM_005981.3:c.540C>A, NM_001330169.2:c.306C>A, NM_001330169.1:c.306C>A, NM_001330168.2:c.291C>A, NM_001330168.1:c.291C>A, XM_024449123.2:c.306C>A, XM_024449123.1:c.306C>A

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