SNP Links for Nucleotide (Select 1142736580) - SNP

Select item 14838330531.

rs1483833053 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:75128764 (GRCh38)
6:75838480 (GRCh37)
Canonical SPDI:: NC_000006.12:75128763:T:G
Gene:: COL12A1 (Varview), SNORD156 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.75128764T>G, NC_000006.11:g.75838480T>G, NG_042181.1:g.82144A>C, NR_145788.1:n.19A>C

Select item 14820727282.

rs1482072728 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:75128709 (GRCh38)
6:75838425 (GRCh37)
Canonical SPDI:: NC_000006.12:75128708:T:A
Gene:: COL12A1 (Varview), SNORD156 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000447/2 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000446/2 (Estonian)
HGVS:: NC_000006.12:g.75128709T>A, NC_000006.11:g.75838425T>A, NG_042181.1:g.82199A>T, NR_145788.1:n.74A>T

Select item 14609630573.

rs1460963057 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:75128747 (GRCh38)
6:75838463 (GRCh37)
Canonical SPDI:: NC_000006.12:75128746:G:C
Gene:: COL12A1 (Varview), SNORD156 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.0002/1 (ALFA)
C=0.0002/1 (Estonian)
HGVS:: NC_000006.12:g.75128747G>C, NC_000006.11:g.75838463G>C, NG_042181.1:g.82161C>G, NR_145788.1:n.36C>G

Select item 14306704794.

rs1430670479 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:75128723 (GRCh38)
6:75838439 (GRCh37)
Canonical SPDI:: NC_000006.12:75128722:C:A,NC_000006.12:75128722:C:T
Gene:: COL12A1 (Varview), SNORD156 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.75128723C>A, NC_000006.12:g.75128723C>T, NC_000006.11:g.75838439C>A, NC_000006.11:g.75838439C>T, NG_042181.1:g.82185G>T, NG_042181.1:g.82185G>A, NR_145788.1:n.60G>T, NR_145788.1:n.60G>A

Select item 14198585825.

rs1419858582 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:75128721 (GRCh38)
6:75838437 (GRCh37)
Canonical SPDI:: NC_000006.12:75128720:C:A
Gene:: COL12A1 (Varview), SNORD156 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000447/2 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000446/2 (Estonian)
HGVS:: NC_000006.12:g.75128721C>A, NC_000006.11:g.75838437C>A, NG_042181.1:g.82187G>T, NR_145788.1:n.62G>T

Select item 13837175836.

rs1383717583 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:75128729 (GRCh38)
6:75838445 (GRCh37)
Canonical SPDI:: NC_000006.12:75128728:T:C
Gene:: COL12A1 (Varview), SNORD156 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.75128729T>C, NC_000006.11:g.75838445T>C, NG_042181.1:g.82179A>G, NR_145788.1:n.54A>G

Select item 13729213007.

rs1372921300 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:75128712 (GRCh38)
6:75838428 (GRCh37)
Canonical SPDI:: NC_000006.12:75128711:G:A
Gene:: COL12A1 (Varview), SNORD156 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000057/8 (GnomAD)
A=0.000091/24 (TOPMED)
A=0.000156/1 (1000Genomes)
A=0.001638/3 (Korea1K)
A=0.001699/28 (TOMMO)
A=0.002396/7 (KOREAN)
HGVS:: NC_000006.12:g.75128712G>A, NC_000006.11:g.75838428G>A, NG_042181.1:g.82196C>T, NR_145788.1:n.71C>T

Select item 13679951388.

rs1367995138 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:75128739 (GRCh38)
6:75838455 (GRCh37)
Canonical SPDI:: NC_000006.12:75128738:A:G
Gene:: COL12A1 (Varview), SNORD156 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
G=0.001638/3 (Korea1K)
G=0.002265/38 (TOMMO)
G=0.00308/9 (KOREAN)
HGVS:: NC_000006.12:g.75128739A>G, NC_000006.11:g.75838455A>G, NG_042181.1:g.82169T>C, NR_145788.1:n.44T>C

Select item 12970766969.

rs1297076696 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:75128768 (GRCh38)
6:75838484 (GRCh37)
Canonical SPDI:: NC_000006.12:75128767:G:T
Gene:: COL12A1 (Varview), SNORD156 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000006.12:g.75128768G>T, NC_000006.11:g.75838484G>T, NG_042181.1:g.82140C>A, NR_145788.1:n.15C>A

Select item 128584715210.

rs1285847152 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:75128782 (GRCh38)
6:75838498 (GRCh37)
Canonical SPDI:: NC_000006.12:75128781:A:G
Gene:: COL12A1 (Varview), SNORD156 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000142/2 (ALFA)
G=0.000023/6 (TOPMED)
HGVS:: NC_000006.12:g.75128782A>G, NC_000006.11:g.75838498A>G, NG_042181.1:g.82126T>C, NR_145788.1:n.1T>C

Select item 124996571711.

rs1249965717 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:75128718 (GRCh38)
6:75838434 (GRCh37)
Canonical SPDI:: NC_000006.12:75128717:G:C
Gene:: COL12A1 (Varview), SNORD156 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000142/2 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000043/6 (GnomAD)
HGVS:: NC_000006.12:g.75128718G>C, NC_000006.11:g.75838434G>C, NG_042181.1:g.82190C>G, NR_145788.1:n.65C>G

Select item 124458270712.

rs1244582707 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:75128777 (GRCh38)
6:75838493 (GRCh37)
Canonical SPDI:: NC_000006.12:75128776:A:C
Gene:: COL12A1 (Varview), SNORD156 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.75128777A>C, NC_000006.11:g.75838493A>C, NG_042181.1:g.82131T>G, NR_145788.1:n.6T>G

Select item 119597641213.

rs1195976412 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:75128753 (GRCh38)
6:75838469 (GRCh37)
Canonical SPDI:: NC_000006.12:75128752:A:C
Gene:: COL12A1 (Varview), SNORD156 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.75128753A>C, NC_000006.11:g.75838469A>C, NG_042181.1:g.82155T>G, NR_145788.1:n.30T>G

Select item 118428309514.

rs1184283095 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:75128728 (GRCh38)
6:75838444 (GRCh37)
Canonical SPDI:: NC_000006.12:75128727:C:A,NC_000006.12:75128727:C:T
Gene:: COL12A1 (Varview), SNORD156 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000006.12:g.75128728C>A, NC_000006.12:g.75128728C>T, NC_000006.11:g.75838444C>A, NC_000006.11:g.75838444C>T, NG_042181.1:g.82180G>T, NG_042181.1:g.82180G>A, NR_145788.1:n.55G>T, NR_145788.1:n.55G>A

Select item 116469813715.

rs1164698137 [Homo sapiens]

Variant type:: SNV:
Alleles:: C>-
Chromosome:: no mapping
Canonical SPDI:

Select item 98177627516.

rs981776275 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:75128748 (GRCh38)
6:75838464 (GRCh37)
Canonical SPDI:: NC_000006.12:75128747:T:C
Gene:: COL12A1 (Varview), SNORD156 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.00003/8 (TOPMED)
HGVS:: NC_000006.12:g.75128748T>C, NC_000006.11:g.75838464T>C, NG_042181.1:g.82160A>G, NR_145788.1:n.35A>G

Select item 97267521917.

rs972675219 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 6:75128752 (GRCh38)
6:75838468 (GRCh37)
Canonical SPDI:: NC_000006.12:75128751:A:C,NC_000006.12:75128751:A:G
Gene:: COL12A1 (Varview), SNORD156 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.00034/1 (KOREAN)
C=0.00055/1 (Korea1K)
HGVS:: NC_000006.12:g.75128752A>C, NC_000006.12:g.75128752A>G, NC_000006.11:g.75838468A>C, NC_000006.11:g.75838468A>G, NG_042181.1:g.82156T>G, NG_042181.1:g.82156T>C, NR_145788.1:n.31T>G, NR_145788.1:n.31T>C

Select item 94029487318.

rs940294873 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 6:75128735 (GRCh38)
6:75838451 (GRCh37)
Canonical SPDI:: NC_000006.12:75128734:T:A,NC_000006.12:75128734:T:C
Gene:: COL12A1 (Varview), SNORD156 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.75128735T>A, NC_000006.12:g.75128735T>C, NC_000006.11:g.75838451T>A, NC_000006.11:g.75838451T>C, NG_042181.1:g.82173A>T, NG_042181.1:g.82173A>G, NR_145788.1:n.48A>T, NR_145788.1:n.48A>G

Select item 91010630419.

rs910106304 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:75128725 (GRCh38)
6:75838441 (GRCh37)
Canonical SPDI:: NC_000006.12:75128724:T:C
Gene:: COL12A1 (Varview), SNORD156 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_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_000006.12:g.75128725T>C, NC_000006.11:g.75838441T>C, NG_042181.1:g.82183A>G, NR_145788.1:n.58A>G

Select item 14743275920.

rs147432759 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:75128778 (GRCh38)
6:75838494 (GRCh37)
Canonical SPDI:: NC_000006.12:75128777:T:A
Gene:: COL12A1 (Varview), SNORD156 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000285/4 (ALFA)
A=0.000214/30 (GnomAD)
A=0.000219/58 (TOPMED)
A=0.000468/2 (1000Genomes)
HGVS:: NC_000006.12:g.75128778T>A, NC_000006.11:g.75838494T>A, NG_042181.1:g.82130A>T, NR_145788.1:n.5A>T

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