SNP Links for Gene (Select 100500868) - SNP

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Select item 14908145011.

rs1490814501 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:69584138 (GRCh38)
12:69977918 (GRCh37)
Canonical SPDI:: NC_000012.12:69584137:A:G
Gene:: CCT2 (Varview), MIR3913-2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000312/2 (1000Genomes)
HGVS:: NC_000012.12:g.69584138A>G, NC_000012.11:g.69977918A>G

Select item 14906471192.

rs1490647119 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:69582956 (GRCh38)
12:69976736 (GRCh37)
Canonical SPDI:: NC_000012.12:69582955:G:A,NC_000012.12:69582955:G:C
Gene:: MIR3913-2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000054/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
A=0.000223/1 (Estonian)
HGVS:: NC_000012.12:g.69582956G>A, NC_000012.12:g.69582956G>C, NC_000012.11:g.69976736G>A, NC_000012.11:g.69976736G>C

Select item 14890886743.

rs1489088674 [Homo sapiens]

Variant type:: DEL
Alleles:: CCGGGA>- [Show Flanks]
Chromosome:: 12:69582971 (GRCh38)
12:69976751 (GRCh37)
Canonical SPDI:: NC_000012.12:69582970:CCGGGA:
Gene:: MIR3913-2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.69582971_69582976del, NC_000012.11:g.69976751_69976756del

Select item 14884300644.

rs1488430064 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:69585222 (GRCh38)
12:69979002 (GRCh37)
Canonical SPDI:: NC_000012.12:69585221:G:C
Gene:: CCT2 (Varview), MIR3913-2 (Varview), MIR3913-1 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.69585222G>C, NC_000012.11:g.69979002G>C

Select item 14884012665.

rs1488401266 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 12:69584571 (GRCh38)
12:69978351 (GRCh37)
Canonical SPDI:: NC_000012.12:69584570:T:
Gene:: CCT2 (Varview), MIR3913-2 (Varview), MIR3913-1 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.69584571del, NC_000012.11:g.69978351del

Select item 14880893046.

rs1488089304 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:69584209 (GRCh38)
12:69977989 (GRCh37)
Canonical SPDI:: NC_000012.12:69584208:G:C
Gene:: CCT2 (Varview), MIR3913-2 (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.69584209G>C, NC_000012.11:g.69977989G>C

Select item 14822127067.

rs1482212706 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:69584555 (GRCh38)
12:69978335 (GRCh37)
Canonical SPDI:: NC_000012.12:69584554:C:A
Gene:: CCT2 (Varview), MIR3913-2 (Varview), MIR3913-1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.69584555C>A, NC_000012.11:g.69978335C>A

Select item 14817087848.

rs1481708784 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:69584449 (GRCh38)
12:69978229 (GRCh37)
Canonical SPDI:: NC_000012.12:69584448:G:A
Gene:: CCT2 (Varview), MIR3913-2 (Varview), MIR3913-1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000071/1 (TOMMO)
A=0.000684/2 (KOREAN)
HGVS:: NC_000012.12:g.69584449G>A, NC_000012.11:g.69978229G>A

Select item 14805336999.

rs1480533699 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:69585061 (GRCh38)
12:69978841 (GRCh37)
Canonical SPDI:: NC_000012.12:69585060:A:G
Gene:: CCT2 (Varview), MIR3913-2 (Varview), MIR3913-1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.00003/8 (TOPMED)
G=0.000043/6 (GnomAD)
HGVS:: NC_000012.12:g.69585061A>G, NC_000012.11:g.69978841A>G

Select item 147974602110.

rs1479746021 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:69583268 (GRCh38)
12:69977048 (GRCh37)
Canonical SPDI:: NC_000012.12:69583267:A:G
Gene:: MIR3913-2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000012.12:g.69583268A>G, NC_000012.11:g.69977048A>G

Select item 147856899411.

rs1478568994 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:69583055 (GRCh38)
12:69976835 (GRCh37)
Canonical SPDI:: NC_000012.12:69583054:A:G
Gene:: MIR3913-2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.69583055A>G, NC_000012.11:g.69976835A>G

Select item 147759092412.

rs1477590924 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 12:69583869 (GRCh38)
12:69977649 (GRCh37)
Canonical SPDI:: NC_000012.12:69583868:C:G,NC_000012.12:69583868:C:T
Gene:: CCT2 (Varview), MIR3913-2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000066/1 (ALFA)
T=0.000004/1 (TOPMED)
G=0.000223/1 (Estonian)
HGVS:: NC_000012.12:g.69583869C>G, NC_000012.12:g.69583869C>T, NC_000012.11:g.69977649C>G, NC_000012.11:g.69977649C>T

Select item 147631106113.

rs1476311061 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 12:69585107 (GRCh38)
12:69978887 (GRCh37)
Canonical SPDI:: NC_000012.12:69585106:T:A,NC_000012.12:69585106:T:C
Gene:: CCT2 (Varview), MIR3913-2 (Varview), MIR3913-1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.69585107T>A, NC_000012.12:g.69585107T>C, NC_000012.11:g.69978887T>A, NC_000012.11:g.69978887T>C

Select item 147598615014.

rs1475986150 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 12:69584257 (GRCh38)
12:69978037 (GRCh37)
Canonical SPDI:: NC_000012.12:69584256:C:A,NC_000012.12:69584256:C:T
Gene:: CCT2 (Varview), MIR3913-2 (Varview), MIR3913-1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.69584257C>A, NC_000012.12:g.69584257C>T, NC_000012.11:g.69978037C>A, NC_000012.11:g.69978037C>T

Select item 147589370215.

rs1475893702 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:69583731 (GRCh38)
12:69977511 (GRCh37)
Canonical SPDI:: NC_000012.12:69583730:T:C
Gene:: CCT2 (Varview), MIR3913-2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000012.12:g.69583731T>C, NC_000012.11:g.69977511T>C

Select item 147202746916.

rs1472027469 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:69584951 (GRCh38)
12:69978731 (GRCh37)
Canonical SPDI:: NC_000012.12:69584950:T:C
Gene:: CCT2 (Varview), MIR3913-2 (Varview), MIR3913-1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.69584951T>C, NC_000012.11:g.69978731T>C

Select item 147169853317.

rs1471698533 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:69584607 (GRCh38)
12:69978387 (GRCh37)
Canonical SPDI:: NC_000012.12:69584606:G:A
Gene:: CCT2 (Varview), MIR3913-2 (Varview), MIR3913-1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.69584607G>A, NC_000012.11:g.69978387G>A

Select item 147011928018.

rs1470119280 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:69582839 (GRCh38)
12:69976619 (GRCh37)
Canonical SPDI:: NC_000012.12:69582838:G:C
Gene:: MIR3913-2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000012.12:g.69582839G>C, NC_000012.11:g.69976619G>C

Select item 146986310219.

rs1469863102 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAAAAAA [Show Flanks]
Chromosome:: 12:69584267 (GRCh38)
12:69978048 (GRCh37)
Canonical SPDI:: NC_000012.12:69584267:AAAAAA:AAAAAAGAAAAAA
Gene:: CCT2 (Varview), MIR3913-2 (Varview), MIR3913-1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAGAAAAAA=0./0 (ALFA)
AAAAAAG=0.000007/1 (GnomAD)
AAAAAAG=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.69584268_69584273A[6]GAAAAAA[1], NC_000012.11:g.69978048_69978053A[6]GAAAAAA[1]

Select item 146673290920.

rs1466732909 [Homo sapiens]

Variant type:: DELINS
Alleles:: AATG>- [Show Flanks]
Chromosome:: 12:69583128 (GRCh38)
12:69976908 (GRCh37)
Canonical SPDI:: NC_000012.12:69583125:TGAATG:TG
Gene:: MIR3913-2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.69583128_69583131del, NC_000012.11:g.69976908_69976911del

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