SNP Links for Gene (Select 63943) - SNP

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:32128411 (GRCh38)
6:32096188 (GRCh37)
Canonical SPDI:: NC_000006.12:32128410:T:G
Gene:: ATF6B (Varview), FKBPL (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000035/1 (TOMMO)
G=0.000071/10 (GnomAD)
G=0.000079/21 (TOPMED)
HGVS:: NC_000006.12:g.32128411T>G, NC_000006.11:g.32096188T>G, NG_033940.1:g.4830A>C, NT_113891.3:g.3566742T>G, NT_113891.2:g.3566848T>G, NT_167247.2:g.3470431T>G, NT_167247.1:g.3476016T>G, NT_167245.2:g.3369775T>G, NT_167245.1:g.3375360T>G

Select item 148876859410.

rs1488768594 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:32130078 (GRCh38)
6:32097855 (GRCh37)
Canonical SPDI:: NC_000006.12:32130077:G:A
Gene:: ATF6B (Varview), FKBPL (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.32130078G>A, NC_000006.11:g.32097855G>A, NG_033940.1:g.3163C>T, NT_113891.3:g.3568409G>A, NT_113891.2:g.3568515G>A, NT_167247.2:g.3472098G>A, NT_167247.1:g.3477683G>A, NT_167245.2:g.3371442G>A, NT_167245.1:g.3377027G>A

Select item 148678137811.

rs1486781378 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:32131569 (GRCh38)
6:32099346 (GRCh37)
Canonical SPDI:: NC_000006.12:32131568:C:A
Gene:: FKBPL (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000006.12:g.32131569C>A, NC_000006.11:g.32099346C>A, NG_033940.1:g.1672G>T, NG_066788.1:g.165C>A, NT_113891.3:g.3569903C>A, NT_113891.2:g.3570009C>A, NT_167247.2:g.3473588C>A, NT_167247.1:g.3479173C>A, NT_167245.2:g.3372934C>A, NT_167245.1:g.3378519C>A, NT_167249.2:g.3447776C>A, NT_167249.1:g.3447074C>A

Select item 148648313712.

rs1486483137 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:32132043 (GRCh38)
6:32099820 (GRCh37)
Canonical SPDI:: NC_000006.12:32132042:G:A,NC_000006.12:32132042:G:T
Gene:: FKBPL (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.00039/7 (TOMMO)
HGVS:: NC_000006.12:g.32132043G>A, NC_000006.12:g.32132043G>T, NC_000006.11:g.32099820G>A, NC_000006.11:g.32099820G>T, NG_033940.1:g.1198C>T, NG_033940.1:g.1198C>A, NG_066788.1:g.639G>A, NG_066788.1:g.639G>T, NT_113891.3:g.3570377G>A, NT_113891.3:g.3570377G>T, NT_113891.2:g.3570483G>A, NT_113891.2:g.3570483G>T, NT_167247.2:g.3474062G>A, NT_167247.2:g.3474062G>T, NT_167247.1:g.3479647G>A, NT_167247.1:g.3479647G>T, NT_167245.2:g.3373408G>A, NT_167245.2:g.3373408G>T, NT_167245.1:g.3378993G>A, NT_167245.1:g.3378993G>T, NT_167249.2:g.3448250G>A, NT_167249.2:g.3448250G>T, NT_167249.1:g.3447548G>A, NT_167249.1:g.3447548G>T

Select item 148353483113.

rs1483534831 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:32129904 (GRCh38)
6:32097681 (GRCh37)
Canonical SPDI:: NC_000006.12:32129903:C:T
Gene:: ATF6B (Varview), FKBPL (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.32129904C>T, NC_000006.11:g.32097681C>T, NG_033940.1:g.3337G>A, NT_113891.3:g.3568235C>T, NT_113891.2:g.3568341C>T, NT_167247.2:g.3471924C>T, NT_167247.1:g.3477509C>T, NT_167245.2:g.3371268C>T, NT_167245.1:g.3376853C>T

Select item 148351424214.

rs1483514242 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:32130719 (GRCh38)
6:32098496 (GRCh37)
Canonical SPDI:: NC_000006.12:32130718:A:C
Gene:: FKBPL (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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.32130719A>C, NC_000006.11:g.32098496A>C, NG_033940.1:g.2522T>G, NT_113891.3:g.3569052A>C, NT_113891.2:g.3569158A>C, NT_167247.2:g.3472737A>C, NT_167247.1:g.3478322A>C, NT_167245.2:g.3372083A>C, NT_167245.1:g.3377668A>C, NT_167249.2:g.3446925A>C, NT_167249.1:g.3446223A>C

Select item 148301986915.

rs1483019869 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:32131753 (GRCh38)
6:32099530 (GRCh37)
Canonical SPDI:: NC_000006.12:32131752:C:A
Gene:: FKBPL (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.32131753C>A, NC_000006.11:g.32099530C>A, NG_033940.1:g.1488G>T, NG_066788.1:g.349C>A, NT_113891.3:g.3570087C>A, NT_113891.2:g.3570193C>A, NT_167247.2:g.3473772C>A, NT_167247.1:g.3479357C>A, NT_167245.2:g.3373118C>A, NT_167245.1:g.3378703C>A, NT_167249.2:g.3447960C>A, NT_167249.1:g.3447258C>A

Select item 148198114516.

rs1481981145 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:32130820 (GRCh38)
6:32098597 (GRCh37)
Canonical SPDI:: NC_000006.12:32130819:A:G
Gene:: FKBPL (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.32130820A>G, NC_000006.11:g.32098597A>G, NG_033940.1:g.2421T>C, NT_113891.3:g.3569153A>G, NT_113891.2:g.3569259A>G, NT_167247.2:g.3472838A>G, NT_167247.1:g.3478423A>G, NT_167245.2:g.3372184A>G, NT_167245.1:g.3377769A>G, NT_167249.2:g.3447026A>G, NT_167249.1:g.3446324A>G

Select item 148181672717.

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 148151995218.

rs1481519952 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:32131068 (GRCh38)
6:32098845 (GRCh37)
Canonical SPDI:: NC_000006.12:32131067:C:T
Gene:: FKBPL (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.32131068C>T, NC_000006.11:g.32098845C>T, NG_033940.1:g.2173G>A, NT_113891.3:g.3569401C>T, NT_113891.2:g.3569507C>T, NT_167247.2:g.3473086C>T, NT_167247.1:g.3478671C>T, NT_167245.2:g.3372432C>T, NT_167245.1:g.3378017C>T, NT_167249.2:g.3447274C>T, NT_167249.1:g.3446572C>T

Select item 147975585919.

rs1479755859 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:32130838 (GRCh38)
6:32098615 (GRCh37)
Canonical SPDI:: NC_000006.12:32130837:T:C
Gene:: FKBPL (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_000006.12:g.32130838T>C, NC_000006.11:g.32098615T>C, NG_033940.1:g.2403A>G, NT_113891.3:g.3569171T>C, NT_113891.2:g.3569277T>C, NT_167247.2:g.3472856T>C, NT_167247.1:g.3478441T>C, NT_167245.2:g.3372202T>C, NT_167245.1:g.3377787T>C, NT_167249.2:g.3447044T>C, NT_167249.1:g.3446342T>C

Select item 147928337020.

rs1479283370 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:32131562 (GRCh38)
6:32099339 (GRCh37)
Canonical SPDI:: NC_000006.12:32131561:C:T
Gene:: FKBPL (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.32131562C>T, NC_000006.11:g.32099339C>T, NG_033940.1:g.1679G>A, NG_066788.1:g.158C>T, NT_113891.3:g.3569896C>T, NT_113891.2:g.3570002C>T, NT_167247.2:g.3473581C>T, NT_167247.1:g.3479166C>T, NT_167245.2:g.3372927C>T, NT_167245.1:g.3378512C>T, NT_167249.2:g.3447769C>T, NT_167249.1:g.3447067C>T

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