SNP Links for Gene (Select 1337) - SNP

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Select item 14902743201.

rs1490274320 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:120436852 (GRCh38)
12:120874655 (GRCh37)
Canonical SPDI:: NC_000012.12:120436851:C:T
Gene:: COX6A1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.120436852C>T, NC_000012.11:g.120874655C>T, NG_034299.1:g.3763C>T

Select item 14898596012.

rs1489859601 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 12:120436327 (GRCh38)
12:120874130 (GRCh37)
Canonical SPDI:: NC_000012.12:120436326:C:
Gene:: COX6A1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000015/4 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.120436327del, NC_000012.11:g.120874130del, NG_034299.1:g.3238del

Select item 14891219523.

rs1489121952 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:120436379 (GRCh38)
12:120874182 (GRCh37)
Canonical SPDI:: NC_000012.12:120436378:T:C
Gene:: COX6A1 (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.120436379T>C, NC_000012.11:g.120874182T>C, NG_034299.1:g.3290T>C

Select item 14877278094.

rs1487727809 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:120436298 (GRCh38)
12:120874101 (GRCh37)
Canonical SPDI:: NC_000012.12:120436297:C:T
Gene:: COX6A1 (Varview)
Functional Consequence:: 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.120436298C>T, NC_000012.11:g.120874101C>T, NG_034299.1:g.3209C>T

Select item 14872205495.

rs1487220549 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:120437427 (GRCh38)
12:120875230 (GRCh37)
Canonical SPDI:: NC_000012.12:120437426:T:A
Gene:: COX6A1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00017/2 (ALFA)
A=0.00339/6 (Korea1K)
A=0.00471/73 (TOMMO)
A=0.02772/80 (KOREAN)
HGVS:: NC_000012.12:g.120437427T>A, NC_000012.11:g.120875230T>A, NG_034299.1:g.4338T>A

Select item 14863991486.

rs1486399148 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:120440398 (GRCh38)
12:120878201 (GRCh37)
Canonical SPDI:: NC_000012.12:120440397:G:A
Gene:: COX6A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.120440398G>A, NC_000012.11:g.120878201G>A, NG_034299.1:g.7309G>A

Select item 14857078247.

rs1485707824 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:120440033 (GRCh38)
12:120877836 (GRCh37)
Canonical SPDI:: NC_000012.12:120440032:C:T
Gene:: COX6A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.120440033C>T, NC_000012.11:g.120877836C>T, NG_034299.1:g.6944C>T

Select item 14854891398.

rs1485489139 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:120439280 (GRCh38)
12:120877083 (GRCh37)
Canonical SPDI:: NC_000012.12:120439279:A:C
Gene:: COX6A1 (Varview)
Functional Consequence:: 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_000012.12:g.120439280A>C, NC_000012.11:g.120877083A>C, NG_034299.1:g.6191A>C

Select item 14851384139.

rs1485138413 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:120440399 (GRCh38)
12:120878202 (GRCh37)
Canonical SPDI:: NC_000012.12:120440398:G:C
Gene:: COX6A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000012.12:g.120440399G>C, NC_000012.11:g.120878202G>C, NG_034299.1:g.7310G>C

Select item 148477981510.

rs1484779815 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 12:120439121 (GRCh38)
12:120876924 (GRCh37)
Canonical SPDI:: NC_000012.12:120439120:A:C,NC_000012.12:120439120:A:G
Gene:: COX6A1 (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_000012.12:g.120439121A>C, NC_000012.12:g.120439121A>G, NC_000012.11:g.120876924A>C, NC_000012.11:g.120876924A>G, NG_034299.1:g.6032A>C, NG_034299.1:g.6032A>G

Select item 148455475711.

rs1484554757 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:120440561 (GRCh38)
12:120878364 (GRCh37)
Canonical SPDI:: NC_000012.12:120440560:G:A
Gene:: COX6A1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
HGVS:: NC_000012.12:g.120440561G>A, NC_000012.11:g.120878364G>A, NG_034299.1:g.7472G>A, NM_004373.4:c.*24G>A, NM_004373.3:c.*24G>A

Select item 148451018512.

rs1484510185 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:120439603 (GRCh38)
12:120877406 (GRCh37)
Canonical SPDI:: NC_000012.12:120439602:T:C
Gene:: COX6A1 (Varview)
Functional Consequence:: 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_000012.12:g.120439603T>C, NC_000012.11:g.120877406T>C, NG_034299.1:g.6514T>C

Select item 148425825613.

rs1484258256 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:120438157 (GRCh38)
12:120875960 (GRCh37)
Canonical SPDI:: NC_000012.12:120438156:C:G
Gene:: COX6A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.120438157C>G, NC_000012.11:g.120875960C>G, NG_034299.1:g.5068C>G, NM_004373.4:c.31C>G, NM_004373.3:c.31C>G, NP_004364.2:p.Arg11Gly

Select item 148422434714.

rs1484224347 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:120438522 (GRCh38)
12:120876325 (GRCh37)
Canonical SPDI:: NC_000012.12:120438521:G:A
Gene:: COX6A1 (Varview)
Functional Consequence:: splice_donor_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.120438522G>A, NC_000012.11:g.120876325G>A, NG_034299.1:g.5433G>A

Select item 148401802815.

rs1484018028 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:120436093 (GRCh38)
12:120873896 (GRCh37)
Canonical SPDI:: NC_000012.12:120436092:A:G
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.120436093A>G, NC_000012.11:g.120873896A>G, NG_034299.1:g.3004A>G

Select item 148385999316.

rs1483859993 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:120438914 (GRCh38)
12:120876717 (GRCh37)
Canonical SPDI:: NC_000012.12:120438913:G:A
Gene:: COX6A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.120438914G>A, NC_000012.11:g.120876717G>A, NG_034299.1:g.5825G>A

Select item 148385103617.

rs1483851036 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:120439854 (GRCh38)
12:120877657 (GRCh37)
Canonical SPDI:: NC_000012.12:120439853:G:A,NC_000012.12:120439853:G:C
Gene:: COX6A1 (Varview)
Functional Consequence:: intron_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.120439854G>A, NC_000012.12:g.120439854G>C, NC_000012.11:g.120877657G>A, NC_000012.11:g.120877657G>C, NG_034299.1:g.6765G>A, NG_034299.1:g.6765G>C

Select item 148295742418.

rs1482957424 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACTGCCACCAT>- [Show Flanks]
Chromosome:: 12:120440101 (GRCh38)
12:120877904 (GRCh37)
Canonical SPDI:: NC_000012.12:120440098:ATACTGCCACCAT:AT
Gene:: COX6A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.120440101_120440111del, NC_000012.11:g.120877904_120877914del, NG_034299.1:g.7012_7022del

Select item 148155294919.

rs1481552949 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:120440610 (GRCh38)
12:120878413 (GRCh37)
Canonical SPDI:: NC_000012.12:120440609:A:G
Gene:: COX6A1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.120440610A>G, NC_000012.11:g.120878413A>G, NG_034299.1:g.7521A>G, NM_004373.4:c.*73A>G, NM_004373.3:c.*73A>G

Select item 148095381220.

rs1480953812 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:120437857 (GRCh38)
12:120875660 (GRCh37)
Canonical SPDI:: NC_000012.12:120437856:C:T
Gene:: COX6A1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.120437857C>T, NC_000012.11:g.120875660C>T, NG_034299.1:g.4768C>T

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