SNP Links for Gene (Select 440087) - SNP

Links from Gene

Items: 1 to 20 of 3011

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Select item 14907027591.

rs1490702759 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 12:14817439 (GRCh38)
12:14970373 (GRCh37)
Canonical SPDI:: NC_000012.12:14817438:TTT:TT
Gene:: C12orf60 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.14817441del, NC_000012.11:g.14970375del

Select item 14902220912.

rs1490222091 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:14816924 (GRCh38)
12:14969858 (GRCh37)
Canonical SPDI:: NC_000012.12:14816923:G:A
Gene:: C12orf60 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.14816924G>A, NC_000012.11:g.14969858G>A

Select item 14901974803.

rs1490197480 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:14817939 (GRCh38)
12:14970873 (GRCh37)
Canonical SPDI:: NC_000012.12:14817938:T:C
Gene:: C12orf60 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.14817939T>C, NC_000012.11:g.14970873T>C

Select item 14901659134.

rs1490165913 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:14806168 (GRCh38)
12:14959102 (GRCh37)
Canonical SPDI:: NC_000012.12:14806167:G:A
Gene:: C12orf60 (Varview), SMCO3 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.14806168G>A, NC_000012.11:g.14959102G>A, XM_017019312.2:c.513C>T, XM_017019312.1:c.513C>T, NM_001013698.2:c.513C>T

Select item 14891503715.

rs1489150371 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:14810069 (GRCh38)
12:14963003 (GRCh37)
Canonical SPDI:: NC_000012.12:14810068:T:C
Gene:: C12orf60 (Varview), SMCO3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
C=0.000035/1 (TOMMO)
C=0.000342/1 (KOREAN)
HGVS:: NC_000012.12:g.14810069T>C, NC_000012.11:g.14963003T>C

Select item 14889682076.

rs1488968207 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:14818754 (GRCh38)
12:14971688 (GRCh37)
Canonical SPDI:: NC_000012.12:14818753:G:A,NC_000012.12:14818753:G:C
Gene:: C12orf60 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.14818754G>A, NC_000012.12:g.14818754G>C, NC_000012.11:g.14971688G>A, NC_000012.11:g.14971688G>C

Select item 14889488767.

rs1488948876 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 12:14817302 (GRCh38)
12:14970237 (GRCh37)
Canonical SPDI:: NC_000012.12:14817302:AAAAA:AAAAAA
Gene:: C12orf60 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAA=0./0 (ALFA)
A=0.000036/5 (GnomAD)
A=0.000045/12 (TOPMED)
HGVS:: NC_000012.12:g.14817307dup, NC_000012.11:g.14970241dup

Select item 14889441498.

rs1488944149 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:14810557 (GRCh38)
12:14963491 (GRCh37)
Canonical SPDI:: NC_000012.12:14810556:T:C
Gene:: C12orf60 (Varview), SMCO3 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.14810557T>C, NC_000012.11:g.14963491T>C, XM_011520568.3:c.-860T>C, XM_011520568.2:c.-860T>C

Select item 14887474979.

rs1488747497 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:14814766 (GRCh38)
12:14967700 (GRCh37)
Canonical SPDI:: NC_000012.12:14814765:C:T
Gene:: C12orf60 (Varview), SMCO3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000012.12:g.14814766C>T, NC_000012.11:g.14967700C>T

Select item 148860856710.

rs1488608567 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:14806819 (GRCh38)
12:14959753 (GRCh37)
Canonical SPDI:: NC_000012.12:14806818:A:G
Gene:: C12orf60 (Varview), SMCO3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000021/3 (GnomAD)
G=0.000049/13 (TOPMED)
G=0.000342/1 (KOREAN)
G=0.000546/1 (Korea1K)
HGVS:: NC_000012.12:g.14806819A>G, NC_000012.11:g.14959753A>G

Select item 148849950311.

rs1488499503 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 12:14807245 (GRCh38)
12:14960179 (GRCh37)
Canonical SPDI:: NC_000012.12:14807244:T:
Gene:: C12orf60 (Varview), SMCO3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000012.12:g.14807245del, NC_000012.11:g.14960179del

Select item 148769918712.

rs1487699187 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 12:14815363 (GRCh38)
12:14968297 (GRCh37)
Canonical SPDI:: NC_000012.12:14815362:A:G,NC_000012.12:14815362:A:T
Gene:: C12orf60 (Varview), SMCO3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.14815363A>G, NC_000012.12:g.14815363A>T, NC_000012.11:g.14968297A>G, NC_000012.11:g.14968297A>T

Select item 148766431013.

rs1487664310 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:14805586 (GRCh38)
12:14958520 (GRCh37)
Canonical SPDI:: NC_000012.12:14805585:A:G
Gene:: C12orf60 (Varview), SMCO3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.14805586A>G, NC_000012.11:g.14958520A>G, XM_017019312.2:c.*417T>C, XM_017019312.1:c.*417T>C, NM_001013698.2:c.*417T>C

Select item 148746523714.

rs1487465237 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:14814764 (GRCh38)
12:14967698 (GRCh37)
Canonical SPDI:: NC_000012.12:14814763:C:T
Gene:: C12orf60 (Varview), SMCO3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.14814764C>T, NC_000012.11:g.14967698C>T

Select item 148719355315.

rs1487193553 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 12:14812240 (GRCh38)
12:14965174 (GRCh37)
Canonical SPDI:: NC_000012.12:14812239:C:A,NC_000012.12:14812239:C:T
Gene:: C12orf60 (Varview), SMCO3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00081/14 (TOMMO)
HGVS:: NC_000012.12:g.14812240C>A, NC_000012.12:g.14812240C>T, NC_000012.11:g.14965174C>A, NC_000012.11:g.14965174C>T

Select item 148678159916.

rs1486781599 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:14813535 (GRCh38)
12:14966469 (GRCh37)
Canonical SPDI:: NC_000012.12:14813534:A:G
Gene:: C12orf60 (Varview), SMCO3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_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.14813535A>G, NC_000012.11:g.14966469A>G

Select item 148674723317.

rs1486747233 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:14814895 (GRCh38)
12:14967829 (GRCh37)
Canonical SPDI:: NC_000012.12:14814894:T:C
Gene:: C12orf60 (Varview), SMCO3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000012.12:g.14814895T>C, NC_000012.11:g.14967829T>C

Select item 148671618918.

rs1486716189 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:14814783 (GRCh38)
12:14967717 (GRCh37)
Canonical SPDI:: NC_000012.12:14814782:C:T
Gene:: C12orf60 (Varview), SMCO3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.14814783C>T, NC_000012.11:g.14967717C>T

Select item 148667959919.

rs1486679599 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:14815663 (GRCh38)
12:14968597 (GRCh37)
Canonical SPDI:: NC_000012.12:14815662:T:G
Gene:: C12orf60 (Varview), SMCO3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000012.12:g.14815663T>G, NC_000012.11:g.14968597T>G

Select item 148665051220.

rs1486650512 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:14805724 (GRCh38)
12:14958658 (GRCh37)
Canonical SPDI:: NC_000012.12:14805723:T:C
Gene:: C12orf60 (Varview), SMCO3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.14805724T>C, NC_000012.11:g.14958658T>C, XM_017019312.2:c.*279A>G, XM_017019312.1:c.*279A>G, NM_001013698.2:c.*279A>G

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