SNP Links for Gene (Select 1031) - SNP

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Select item 14907906411.

rs1490790641 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:50971598 (GRCh38)
1:51437270 (GRCh37)
Canonical SPDI:: NC_000001.11:50971597:C:T
Gene:: CDKN2C (Varview), LOC124904176 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0063/28 (ALFA)
T=0.006/27 (Estonian)
HGVS:: NC_000001.11:g.50971598C>T, NC_000001.10:g.51437270C>T

Select item 14903387192.

rs1490338719 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:50968207 (GRCh38)
1:51433879 (GRCh37)
Canonical SPDI:: NC_000001.11:50968206:A:G
Gene:: CDKN2C (Varview), LOC124904176 (Varview)
Functional Consequence:: 3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00011/1 (TOMMO)
G=0.00068/2 (KOREAN)
G=0.00794/1 (GnomAD)
HGVS:: NC_000001.11:g.50968207A>G, NC_000001.10:g.51433879A>G, XM_047437269.1:c.*777T>C

Select item 14903003393.

rs1490300339 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:50970194 (GRCh38)
1:51435866 (GRCh37)
Canonical SPDI:: NC_000001.11:50970193:C:T
Gene:: CDKN2C (Varview), LOC124904176 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.50970194C>T, NC_000001.10:g.51435866C>T, NM_078626.2:c.-175C>T

Select item 14896086704.

rs1489608670 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 1:50967318 (GRCh38)
1:51432990 (GRCh37)
Canonical SPDI:: NC_000001.11:50967317:A:
Gene:: CDKN2C (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.50967318del, NC_000001.10:g.51432990del

Select item 14891133835.

rs1489113383 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:50970147 (GRCh38)
1:51435819 (GRCh37)
Canonical SPDI:: NC_000001.11:50970146:T:A
Gene:: CDKN2C (Varview), LOC124904176 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000001.11:g.50970147T>A, NC_000001.10:g.51435819T>A, NM_078626.2:c.-222T>A

Select item 14889688536.

rs1488968853 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:50968565 (GRCh38)
1:51434237 (GRCh37)
Canonical SPDI:: NC_000001.11:50968564:A:G
Gene:: CDKN2C (Varview), LOC124904176 (Varview)
Functional Consequence:: 3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.50968565A>G, NC_000001.10:g.51434237A>G, XM_047437269.1:c.*419T>C

Select item 14889375957.

rs1488937595 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 1:50973587 (GRCh38)
1:51439259 (GRCh37)
Canonical SPDI:: NC_000001.11:50973586:T:C,NC_000001.11:50973586:T:G
Gene:: CDKN2C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.50973587T>C, NC_000001.11:g.50973587T>G, NC_000001.10:g.51439259T>C, NC_000001.10:g.51439259T>G

Select item 14883755778.

rs1488375577 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:50969575 (GRCh38)
1:51435247 (GRCh37)
Canonical SPDI:: NC_000001.11:50969574:G:A
Gene:: CDKN2C (Varview), LOC124904176 (Varview)
Functional Consequence:: upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.50969575G>A, NC_000001.10:g.51435247G>A, NM_001262.3:c.-336G>A, NM_001262.2:c.-336G>A, XM_047437269.1:c.-103C>T

Select item 14875432429.

rs1487543242 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:50974267 (GRCh38)
1:51439939 (GRCh37)
Canonical SPDI:: NC_000001.11:50974266:A:G
Gene:: CDKN2C (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00001/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.50974267A>G, NC_000001.10:g.51439939A>G, NM_001262.3:c.504A>G, NM_001262.2:c.504A>G, NM_078626.3:c.504A>G, NM_078626.2:c.504A>G

Select item 148691565110.

rs1486915651 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:50969890 (GRCh38)
1:51435562 (GRCh37)
Canonical SPDI:: NC_000001.11:50969889:G:A
Gene:: CDKN2C (Varview), LOC124904176 (Varview)
Functional Consequence:: upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_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_000001.11:g.50969890G>A, NC_000001.10:g.51435562G>A, NM_001262.3:c.-21G>A, NM_001262.2:c.-21G>A, XM_047437269.1:c.-418C>T

Select item 148674490411.

rs1486744904 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 1:50971082 (GRCh38)
1:51436754 (GRCh37)
Canonical SPDI:: NC_000001.11:50971081:TT:T
Gene:: CDKN2C (Varview), LOC124904176 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.50971083del, NC_000001.10:g.51436755del

Select item 148551995712.

rs1485519957 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:50970420 (GRCh38)
1:51436092 (GRCh37)
Canonical SPDI:: NC_000001.11:50970419:C:T
Gene:: CDKN2C (Varview), LOC124904176 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.50970420C>T, NC_000001.10:g.51436092C>T, NM_001262.3:c.52C>T, NM_001262.2:c.52C>T, NM_078626.3:c.52C>T, NM_078626.2:c.52C>T

Select item 148523567913.

rs1485235679 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:50969063 (GRCh38)
1:51434735 (GRCh37)
Canonical SPDI:: NC_000001.11:50969062:G:C
Gene:: CDKN2C (Varview), LOC124904176 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,missense_variant,genic_upstream_transcript_variant
HGVS:: NC_000001.11:g.50969063G>C, NC_000001.10:g.51434735G>C, NM_001262.3:c.-848G>C, NM_001262.2:c.-848G>C, XM_047437269.1:c.410C>G, XP_047293225.1:p.Thr137Arg

Select item 148456388114.

rs1484563881 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:50969066 (GRCh38)
1:51434738 (GRCh37)
Canonical SPDI:: NC_000001.11:50969065:C:T
Gene:: CDKN2C (Varview), LOC124904176 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.50969066C>T, NC_000001.10:g.51434738C>T, NM_001262.3:c.-845C>T, NM_001262.2:c.-845C>T, XM_047437269.1:c.407G>A, XP_047293225.1:p.Arg136Gln

Select item 148395822615.

rs1483958226 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:50973851 (GRCh38)
1:51439523 (GRCh37)
Canonical SPDI:: NC_000001.11:50973850:A:G
Gene:: CDKN2C (Varview)
Functional Consequence:: intron_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_000001.11:g.50973851A>G, NC_000001.10:g.51439523A>G

Select item 148335771216.

rs1483357712 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 1:50966943 (GRCh38)
1:51432615 (GRCh37)
Canonical SPDI:: NC_000001.11:50966941:ATA:A
Gene:: CDKN2C (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.50966943_50966944del, NC_000001.10:g.51432615_51432616del

Select item 148325433917.

rs1483254339 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:50969258 (GRCh38)
1:51434930 (GRCh37)
Canonical SPDI:: NC_000001.11:50969257:G:T
Gene:: CDKN2C (Varview), LOC124904176 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000001.11:g.50969258G>T, NC_000001.10:g.51434930G>T, NM_001262.3:c.-653G>T, NM_001262.2:c.-653G>T, XM_047437269.1:c.215C>A, XP_047293225.1:p.Pro72His

Select item 148293251518.

rs1482932515 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:50972768 (GRCh38)
1:51438440 (GRCh37)
Canonical SPDI:: NC_000001.11:50972767:A:G
Gene:: CDKN2C (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_000001.11:g.50972768A>G, NC_000001.10:g.51438440A>G

Select item 148249110719.

rs1482491107 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:50967662 (GRCh38)
1:51433334 (GRCh37)
Canonical SPDI:: NC_000001.11:50967661:T:C
Gene:: CDKN2C (Varview), LOC124904176 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.50967662T>C, NC_000001.10:g.51433334T>C

Select item 148217470320.

rs1482174703 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:50972335 (GRCh38)
1:51438007 (GRCh37)
Canonical SPDI:: NC_000001.11:50972334:G:A
Gene:: CDKN2C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.50972335G>A, NC_000001.10:g.51438007G>A

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