SNP Links for Protein (Select 17149853) - SNP

Links from Protein

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Select item 14901766371.

rs1490176637 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:32129073 (GRCh38)
6:32096850 (GRCh37)
Canonical SPDI:: NC_000006.12:32129072:A:G
Gene:: ATF6B (Varview), FKBPL (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.32129073A>G, NC_000006.11:g.32096850A>G, NG_033940.1:g.4168T>C, NT_113891.3:g.3567404A>G, NT_113891.2:g.3567510A>G, NT_167247.2:g.3471093A>G, NT_167247.1:g.3476678A>G, NT_167245.2:g.3370437A>G, NT_167245.1:g.3376022A>G, NM_022110.4:c.708T>C, NM_022110.3:c.708T>C

Select item 14818167272.

rs1481816727 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:32129109 (GRCh38)
6:32096886 (GRCh37)
Canonical SPDI:: NC_000006.12:32129108:C:T
Gene:: ATF6B (Varview), FKBPL (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.32129109C>T, NC_000006.11:g.32096886C>T, NG_033940.1:g.4132G>A, NT_113891.3:g.3567440C>T, NT_113891.2:g.3567546C>T, NT_167247.2:g.3471129C>T, NT_167247.1:g.3476714C>T, NT_167245.2:g.3370473C>T, NT_167245.1:g.3376058C>T, NM_022110.4:c.672G>A, NM_022110.3:c.672G>A

Select item 14785363753.

rs1478536375 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:32129428 (GRCh38)
6:32097205 (GRCh37)
Canonical SPDI:: NC_000006.12:32129427:G:C
Gene:: ATF6B (Varview), FKBPL (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.32129428G>C, NC_000006.11:g.32097205G>C, NG_033940.1:g.3813C>G, NT_113891.3:g.3567759G>C, NT_113891.2:g.3567865G>C, NT_167247.2:g.3471448G>C, NT_167247.1:g.3477033G>C, NT_167245.2:g.3370792G>C, NT_167245.1:g.3376377G>C, NM_022110.4:c.353C>G, NM_022110.3:c.353C>G, NP_071393.2:p.Pro118Arg

Select item 14777447154.

rs1477744715 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAGGAGCCTAG>- [Show Flanks]
Chromosome:: 6:32129413 (GRCh38)
6:32097190 (GRCh37)
Canonical SPDI:: NC_000006.12:32129410:AGCAGGAGCCTAG:AG
Gene:: ATF6B (Varview), FKBPL (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.32129413_32129423del, NC_000006.11:g.32097190_32097200del, NG_033940.1:g.3820_3830del, NT_113891.3:g.3567744_3567754del, NT_113891.2:g.3567850_3567860del, NT_167247.2:g.3471433_3471443del, NT_167247.1:g.3477018_3477028del, NT_167245.2:g.3370777_3370787del, NT_167245.1:g.3376362_3376372del, NM_022110.4:c.360_370del, NM_022110.3:c.360_370del, NP_071393.2:p.Gly121fs

Select item 14737705585.

rs1473770558 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:32129697 (GRCh38)
6:32097474 (GRCh37)
Canonical SPDI:: NC_000006.12:32129696:G:T
Gene:: ATF6B (Varview), FKBPL (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.32129697G>T, NC_000006.11:g.32097474G>T, NG_033940.1:g.3544C>A, NT_113891.3:g.3568028G>T, NT_113891.2:g.3568134G>T, NT_167247.2:g.3471717G>T, NT_167247.1:g.3477302G>T, NT_167245.2:g.3371061G>T, NT_167245.1:g.3376646G>T, NM_022110.4:c.84C>A, NM_022110.3:c.84C>A, NP_071393.2:p.Asn28Lys

Select item 14694206196.

rs1469420619 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:32128902 (GRCh38)
6:32096679 (GRCh37)
Canonical SPDI:: NC_000006.12:32128901:C:A,NC_000006.12:32128901:C:T
Gene:: ATF6B (Varview), FKBPL (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,synonymous_variant,coding_sequence_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_000006.12:g.32128902C>A, NC_000006.12:g.32128902C>T, NC_000006.11:g.32096679C>A, NC_000006.11:g.32096679C>T, NG_033940.1:g.4339G>T, NG_033940.1:g.4339G>A, NT_113891.3:g.3567233C>A, NT_113891.3:g.3567233C>T, NT_113891.2:g.3567339C>A, NT_113891.2:g.3567339C>T, NT_167247.2:g.3470922C>A, NT_167247.2:g.3470922C>T, NT_167247.1:g.3476507C>A, NT_167247.1:g.3476507C>T, NT_167245.2:g.3370266C>A, NT_167245.2:g.3370266C>T, NT_167245.1:g.3375851C>A, NT_167245.1:g.3375851C>T, NM_022110.4:c.879G>T, NM_022110.4:c.879G>A, NM_022110.3:c.879G>T, NM_022110.3:c.879G>A

Select item 14667450517.

rs1466745051 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:32129638 (GRCh38)
6:32097415 (GRCh37)
Canonical SPDI:: NC_000006.12:32129637:T:A
Gene:: ATF6B (Varview), FKBPL (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000006.12:g.32129638T>A, NC_000006.11:g.32097415T>A, NG_033940.1:g.3603A>T, NT_113891.3:g.3567969T>A, NT_113891.2:g.3568075T>A, NT_167247.2:g.3471658T>A, NT_167247.1:g.3477243T>A, NT_167245.2:g.3371002T>A, NT_167245.1:g.3376587T>A, NM_022110.4:c.143A>T, NM_022110.3:c.143A>T, NP_071393.2:p.Glu48Val

Select item 14661202488.

rs1466120248 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 6:32128879 (GRCh38)
6:32096656 (GRCh37)
Canonical SPDI:: NC_000006.12:32128878:TT:T
Gene:: ATF6B (Varview), FKBPL (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.32128880del, NC_000006.11:g.32096657del, NG_033940.1:g.4362del, NT_113891.3:g.3567211del, NT_113891.2:g.3567317del, NT_167247.2:g.3470900del, NT_167247.1:g.3476485del, NT_167245.2:g.3370244del, NT_167245.1:g.3375829del, NM_022110.4:c.902del, NM_022110.3:c.902del, NP_071393.2:p.Asn301fs

Select item 14651760489.

rs1465176048 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:32128872 (GRCh38)
6:32096649 (GRCh37)
Canonical SPDI:: NC_000006.12:32128871:T:C
Gene:: ATF6B (Varview), FKBPL (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_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.32128872T>C, NC_000006.11:g.32096649T>C, NG_033940.1:g.4369A>G, NT_113891.3:g.3567203T>C, NT_113891.2:g.3567309T>C, NT_167247.2:g.3470892T>C, NT_167247.1:g.3476477T>C, NT_167245.2:g.3370236T>C, NT_167245.1:g.3375821T>C, NM_022110.4:c.909A>G, NM_022110.3:c.909A>G

Select item 145932061510.

rs1459320615 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:32128790 (GRCh38)
6:32096567 (GRCh37)
Canonical SPDI:: NC_000006.12:32128789:T:C
Gene:: ATF6B (Varview), FKBPL (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.32128790T>C, NC_000006.11:g.32096567T>C, NG_033940.1:g.4451A>G, NT_113891.3:g.3567121T>C, NT_113891.2:g.3567227T>C, NT_167247.2:g.3470810T>C, NT_167247.1:g.3476395T>C, NT_167245.2:g.3370154T>C, NT_167245.1:g.3375739T>C, NM_022110.4:c.991A>G, NM_022110.3:c.991A>G, NP_071393.2:p.Ile331Val

Select item 145703708311.

rs1457037083 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:32129673 (GRCh38)
6:32097450 (GRCh37)
Canonical SPDI:: NC_000006.12:32129672:C:T
Gene:: ATF6B (Varview), FKBPL (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.32129673C>T, NC_000006.11:g.32097450C>T, NG_033940.1:g.3568G>A, NT_113891.3:g.3568004C>T, NT_113891.2:g.3568110C>T, NT_167247.2:g.3471693C>T, NT_167247.1:g.3477278C>T, NT_167245.2:g.3371037C>T, NT_167245.1:g.3376622C>T, NM_022110.4:c.108G>A, NM_022110.3:c.108G>A

Select item 144862674212.

rs1448626742 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:32129278 (GRCh38)
6:32097055 (GRCh37)
Canonical SPDI:: NC_000006.12:32129277:C:A
Gene:: ATF6B (Varview), FKBPL (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.32129278C>A, NC_000006.11:g.32097055C>A, NG_033940.1:g.3963G>T, NT_113891.3:g.3567609C>A, NT_113891.2:g.3567715C>A, NT_167247.2:g.3471298C>A, NT_167247.1:g.3476883C>A, NT_167245.2:g.3370642C>A, NT_167245.1:g.3376227C>A, NM_022110.4:c.503G>T, NM_022110.3:c.503G>T, NP_071393.2:p.Cys168Phe

Select item 144788619313.

rs1447886193 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 6:32129647 (GRCh38)
6:32097424 (GRCh37)
Canonical SPDI:: NC_000006.12:32129646:T:A,NC_000006.12:32129646:T:G
Gene:: ATF6B (Varview), FKBPL (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00003/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.32129647T>A, NC_000006.12:g.32129647T>G, NC_000006.11:g.32097424T>A, NC_000006.11:g.32097424T>G, NG_033940.1:g.3594A>T, NG_033940.1:g.3594A>C, NT_113891.3:g.3567978T>A, NT_113891.3:g.3567978T>G, NT_113891.2:g.3568084T>A, NT_113891.2:g.3568084T>G, NT_167247.2:g.3471667T>A, NT_167247.2:g.3471667T>G, NT_167247.1:g.3477252T>A, NT_167247.1:g.3477252T>G, NT_167245.2:g.3371011T>A, NT_167245.2:g.3371011T>G, NT_167245.1:g.3376596T>A, NT_167245.1:g.3376596T>G, NM_022110.4:c.134A>T, NM_022110.4:c.134A>C, NM_022110.3:c.134A>T, NM_022110.3:c.134A>C, NP_071393.2:p.Glu45Val, NP_071393.2:p.Glu45Ala

Select item 144400326014.

rs1444003260 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:32129763 (GRCh38)
6:32097540 (GRCh37)
Canonical SPDI:: NC_000006.12:32129762:G:C
Gene:: ATF6B (Varview), FKBPL (Varview)
Functional Consequence:: upstream_transcript_variant,synonymous_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.32129763G>C, NC_000006.11:g.32097540G>C, NG_033940.1:g.3478C>G, NT_113891.3:g.3568094G>C, NT_113891.2:g.3568200G>C, NT_167247.2:g.3471783G>C, NT_167247.1:g.3477368G>C, NT_167245.2:g.3371127G>C, NT_167245.1:g.3376712G>C, NM_022110.4:c.18C>G, NM_022110.3:c.18C>G

Select item 144325053315.

rs1443250533 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 6:32129401 (GRCh38)
6:32097178 (GRCh37)
Canonical SPDI:: NC_000006.12:32129400:A:C,NC_000006.12:32129400:A:G
Gene:: ATF6B (Varview), FKBPL (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
G=0.00006/1 (TOMMO)
HGVS:: NC_000006.12:g.32129401A>C, NC_000006.12:g.32129401A>G, NC_000006.11:g.32097178A>C, NC_000006.11:g.32097178A>G, NG_033940.1:g.3840T>G, NG_033940.1:g.3840T>C, NT_113891.3:g.3567732A>C, NT_113891.3:g.3567732A>G, NT_113891.2:g.3567838A>C, NT_113891.2:g.3567838A>G, NT_167247.2:g.3471421A>C, NT_167247.2:g.3471421A>G, NT_167247.1:g.3477006A>C, NT_167247.1:g.3477006A>G, NT_167245.2:g.3370765A>C, NT_167245.2:g.3370765A>G, NT_167245.1:g.3376350A>C, NT_167245.1:g.3376350A>G, NM_022110.4:c.380T>G, NM_022110.4:c.380T>C, NM_022110.3:c.380T>G, NM_022110.3:c.380T>C, NP_071393.2:p.Leu127Arg, NP_071393.2:p.Leu127Pro

Select item 143673301516.

rs1436733015 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:32128756 (GRCh38)
6:32096533 (GRCh37)
Canonical SPDI:: NC_000006.12:32128755:T:G
Gene:: ATF6B (Varview), FKBPL (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.32128756T>G, NC_000006.11:g.32096533T>G, NG_033940.1:g.4485A>C, NT_113891.3:g.3567087T>G, NT_113891.2:g.3567193T>G, NT_167247.2:g.3470776T>G, NT_167247.1:g.3476361T>G, NT_167245.2:g.3370120T>G, NT_167245.1:g.3375705T>G, NM_022110.4:c.1025A>C, NM_022110.3:c.1025A>C, NP_071393.2:p.Gln342Pro

Select item 142790971717.

rs1427909717 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:32129292 (GRCh38)
6:32097069 (GRCh37)
Canonical SPDI:: NC_000006.12:32129291:G:A
Gene:: ATF6B (Varview), FKBPL (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.32129292G>A, NC_000006.11:g.32097069G>A, NG_033940.1:g.3949C>T, NT_113891.3:g.3567623G>A, NT_113891.2:g.3567729G>A, NT_167247.2:g.3471312G>A, NT_167247.1:g.3476897G>A, NT_167245.2:g.3370656G>A, NT_167245.1:g.3376241G>A, NM_022110.4:c.489C>T, NM_022110.3:c.489C>T

Select item 142721658118.

rs1427216581 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:32129001 (GRCh38)
6:32096778 (GRCh37)
Canonical SPDI:: NC_000006.12:32129000:G:A
Gene:: ATF6B (Varview), FKBPL (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.32129001G>A, NC_000006.11:g.32096778G>A, NG_033940.1:g.4240C>T, NT_113891.3:g.3567332G>A, NT_113891.2:g.3567438G>A, NT_167247.2:g.3471021G>A, NT_167247.1:g.3476606G>A, NT_167245.2:g.3370365G>A, NT_167245.1:g.3375950G>A, NM_022110.4:c.780C>T, NM_022110.3:c.780C>T

Select item 142366596019.

rs1423665960 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:32129427 (GRCh38)
6:32097204 (GRCh37)
Canonical SPDI:: NC_000006.12:32129426:G:C
Gene:: ATF6B (Varview), FKBPL (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.32129427G>C, NC_000006.11:g.32097204G>C, NG_033940.1:g.3814C>G, NT_113891.3:g.3567758G>C, NT_113891.2:g.3567864G>C, NT_167247.2:g.3471447G>C, NT_167247.1:g.3477032G>C, NT_167245.2:g.3370791G>C, NT_167245.1:g.3376376G>C, NM_022110.4:c.354C>G, NM_022110.3:c.354C>G

Select item 142294682420.

rs1422946824 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:32129771 (GRCh38)
6:32097548 (GRCh37)
Canonical SPDI:: NC_000006.12:32129770:G:T
Gene:: ATF6B (Varview), FKBPL (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.32129771G>T, NC_000006.11:g.32097548G>T, NG_033940.1:g.3470C>A, NT_113891.3:g.3568102G>T, NT_113891.2:g.3568208G>T, NT_167247.2:g.3471791G>T, NT_167247.1:g.3477376G>T, NT_167245.2:g.3371135G>T, NT_167245.1:g.3376720G>T, NM_022110.4:c.10C>A, NM_022110.3:c.10C>A, NP_071393.2:p.Pro4Thr

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