SNP Links for Protein (Select 578817219) - SNP

Links from Protein

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Select item 14904383081.

rs1490438308 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:113188488 (GRCh38)
9:115950768 (GRCh37)
Canonical SPDI:: NC_000009.12:113188487:C:T
Gene:: FKBP15 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.113188488C>T, NC_000009.11:g.115950768C>T, XM_006717018.3:c.1177G>A, XM_006717018.2:c.1177G>A, XM_006717018.1:c.1177G>A, NM_015258.2:c.1177G>A, NM_015258.1:c.1177G>A, XM_006717019.2:c.973G>A, XM_006717019.1:c.973G>A, XP_006717081.1:p.Val393Met, NP_056073.1:p.Val393Met, XP_006717082.1:p.Val325Met

Select item 14901637862.

rs1490163786 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:113202601 (GRCh38)
9:115964881 (GRCh37)
Canonical SPDI:: NC_000009.12:113202600:T:C
Gene:: FKBP15 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.113202601T>C, NC_000009.11:g.115964881T>C, XM_006717018.3:c.428A>G, XM_006717018.2:c.428A>G, XM_006717018.1:c.428A>G, NM_015258.2:c.428A>G, NM_015258.1:c.428A>G, XM_006717019.2:c.224A>G, XM_006717019.1:c.224A>G, XP_006717081.1:p.Tyr143Cys, NP_056073.1:p.Tyr143Cys, XP_006717082.1:p.Tyr75Cys

Select item 14887295663.

rs1488729566 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 9:113178794 (GRCh38)
9:115941074 (GRCh37)
Canonical SPDI:: NC_000009.12:113178793:A:C
Gene:: FKBP15 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.113178794A>C, NC_000009.11:g.115941074A>C, XM_006717018.3:c.1892T>G, XM_006717018.2:c.1892T>G, XM_006717018.1:c.1892T>G, NM_015258.2:c.1922T>G, NM_015258.1:c.1922T>G, XM_006717019.2:c.1718T>G, XM_006717019.1:c.1718T>G, XP_006717081.1:p.Val631Gly, NP_056073.1:p.Val641Gly, XP_006717082.1:p.Val573Gly

Select item 14870073794.

rs1487007379 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:113194106 (GRCh38)
9:115956386 (GRCh37)
Canonical SPDI:: NC_000009.12:113194105:G:C
Gene:: FKBP15 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.113194106G>C, NC_000009.11:g.115956386G>C, XM_006717018.3:c.928C>G, XM_006717018.2:c.928C>G, XM_006717018.1:c.928C>G, NM_015258.2:c.928C>G, NM_015258.1:c.928C>G, XM_006717019.2:c.724C>G, XM_006717019.1:c.724C>G, XP_006717081.1:p.Pro310Ala, NP_056073.1:p.Pro310Ala, XP_006717082.1:p.Pro242Ala

Select item 14866618825.

rs1486661882 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 9:113169852 (GRCh38)
9:115932132 (GRCh37)
Canonical SPDI:: NC_000009.12:113169851:G:A,NC_000009.12:113169851:G:T
Gene:: FKBP15 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,synonymous_variant
Validated:: by frequency,by cluster
MAF:: A=0.000006/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.113169852G>A, NC_000009.12:g.113169852G>T, NC_000009.11:g.115932132G>A, NC_000009.11:g.115932132G>T, XM_006717018.3:c.2827C>T, XM_006717018.3:c.2827C>A, XM_006717018.2:c.2827C>T, XM_006717018.2:c.2827C>A, XM_006717018.1:c.2827C>T, XM_006717018.1:c.2827C>A, NM_015258.2:c.2857C>T, NM_015258.2:c.2857C>A, NM_015258.1:c.2857C>T, NM_015258.1:c.2857C>A, XM_006717019.2:c.2653C>T, XM_006717019.2:c.2653C>A, XM_006717019.1:c.2653C>T, XM_006717019.1:c.2653C>A, XP_006717081.1:p.Arg943Ter, NP_056073.1:p.Arg953Ter, XP_006717082.1:p.Arg885Ter

Select item 14862511116.

rs1486251111 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:113169763 (GRCh38)
9:115932043 (GRCh37)
Canonical SPDI:: NC_000009.12:113169762:C:G
Gene:: FKBP15 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.113169763C>G, NC_000009.11:g.115932043C>G, XM_006717018.3:c.2916G>C, XM_006717018.2:c.2916G>C, XM_006717018.1:c.2916G>C, NM_015258.2:c.2946G>C, NM_015258.1:c.2946G>C, XM_006717019.2:c.2742G>C, XM_006717019.1:c.2742G>C

Select item 14851265367.

rs1485126536 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 9:113176538 (GRCh38)
9:115938818 (GRCh37)
Canonical SPDI:: NC_000009.12:113176537:T:C,NC_000009.12:113176537:T:G
Gene:: FKBP15 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000012/2 (GnomAD_exomes)
G=0.000119/2 (TOMMO)
G=0.000546/1 (Korea1K)
G=0.000684/2 (KOREAN)
HGVS:: NC_000009.12:g.113176538T>C, NC_000009.12:g.113176538T>G, NC_000009.11:g.115938818T>C, NC_000009.11:g.115938818T>G, XM_006717018.3:c.2192A>G, XM_006717018.3:c.2192A>C, XM_006717018.2:c.2192A>G, XM_006717018.2:c.2192A>C, XM_006717018.1:c.2192A>G, XM_006717018.1:c.2192A>C, NM_015258.2:c.2222A>G, NM_015258.2:c.2222A>C, NM_015258.1:c.2222A>G, NM_015258.1:c.2222A>C, XM_006717019.2:c.2018A>G, XM_006717019.2:c.2018A>C, XM_006717019.1:c.2018A>G, XM_006717019.1:c.2018A>C, XP_006717081.1:p.Lys731Arg, XP_006717081.1:p.Lys731Thr, NP_056073.1:p.Lys741Arg, NP_056073.1:p.Lys741Thr, XP_006717082.1:p.Lys673Arg, XP_006717082.1:p.Lys673Thr

Select item 14849640008.

rs1484964000 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 9:113199854 (GRCh38)
9:115962134 (GRCh37)
Canonical SPDI:: NC_000009.12:113199853:G:C,NC_000009.12:113199853:G:T
Gene:: FKBP15 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.113199854G>C, NC_000009.12:g.113199854G>T, NC_000009.11:g.115962134G>C, NC_000009.11:g.115962134G>T, XM_006717018.3:c.608C>G, XM_006717018.3:c.608C>A, XM_006717018.2:c.608C>G, XM_006717018.2:c.608C>A, XM_006717018.1:c.608C>G, XM_006717018.1:c.608C>A, NM_015258.2:c.608C>G, NM_015258.2:c.608C>A, NM_015258.1:c.608C>G, NM_015258.1:c.608C>A, XM_006717019.2:c.404C>G, XM_006717019.2:c.404C>A, XM_006717019.1:c.404C>G, XM_006717019.1:c.404C>A, XP_006717081.1:p.Ala203Gly, XP_006717081.1:p.Ala203Asp, NP_056073.1:p.Ala203Gly, NP_056073.1:p.Ala203Asp, XP_006717082.1:p.Ala135Gly, XP_006717082.1:p.Ala135Asp

Select item 14839125979.

rs1483912597 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:113170542 (GRCh38)
9:115932822 (GRCh37)
Canonical SPDI:: NC_000009.12:113170541:T:C
Gene:: FKBP15 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.113170542T>C, NC_000009.11:g.115932822T>C, XM_006717018.3:c.2716A>G, XM_006717018.2:c.2716A>G, XM_006717018.1:c.2716A>G, NM_015258.2:c.2746A>G, NM_015258.1:c.2746A>G, XM_006717019.2:c.2542A>G, XM_006717019.1:c.2542A>G, XP_006717081.1:p.Thr906Ala, NP_056073.1:p.Thr916Ala, XP_006717082.1:p.Thr848Ala

Select item 148333466610.

rs1483334666 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:113174491 (GRCh38)
9:115936771 (GRCh37)
Canonical SPDI:: NC_000009.12:113174490:C:T
Gene:: FKBP15 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.113174491C>T, NC_000009.11:g.115936771C>T, XM_006717018.3:c.2286G>A, XM_006717018.2:c.2286G>A, XM_006717018.1:c.2286G>A, NM_015258.2:c.2316G>A, NM_015258.1:c.2316G>A, XM_006717019.2:c.2112G>A, XM_006717019.1:c.2112G>A

Select item 148159660411.

rs1481596604 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 9:113186329 (GRCh38)
9:115948609 (GRCh37)
Canonical SPDI:: NC_000009.12:113186328:T:A
Gene:: FKBP15 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000009.12:g.113186329T>A, NC_000009.11:g.115948609T>A, XM_006717018.3:c.1418A>T, XM_006717018.2:c.1418A>T, XM_006717018.1:c.1418A>T, NM_015258.2:c.1418A>T, NM_015258.1:c.1418A>T, XM_006717019.2:c.1214A>T, XM_006717019.1:c.1214A>T, XP_006717081.1:p.Gln473Leu, NP_056073.1:p.Gln473Leu, XP_006717082.1:p.Gln405Leu

Select item 148158640112.

rs1481586401 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:113183770 (GRCh38)
9:115946050 (GRCh37)
Canonical SPDI:: NC_000009.12:113183769:G:T
Gene:: FKBP15 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000009.12:g.113183770G>T, NC_000009.11:g.115946050G>T, XM_006717018.3:c.1792C>A, XM_006717018.2:c.1792C>A, XM_006717018.1:c.1792C>A, NM_015258.2:c.1792C>A, NM_015258.1:c.1792C>A, XM_006717019.2:c.1588C>A, XM_006717019.1:c.1588C>A, XP_006717081.1:p.Leu598Ile, NP_056073.1:p.Leu598Ile, XP_006717082.1:p.Leu530Ile

Select item 147985110113.

rs1479851101 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 9:113202556 (GRCh38)
9:115964836 (GRCh37)
Canonical SPDI:: NC_000009.12:113202555:TTTT:TTT
Gene:: FKBP15 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
HGVS:: NC_000009.12:g.113202559del, NC_000009.11:g.115964839del, XM_006717018.3:c.473del, XM_006717018.2:c.473del, XM_006717018.1:c.473del, NM_015258.2:c.473del, NM_015258.1:c.473del, XM_006717019.2:c.269del, XM_006717019.1:c.269del, XP_006717081.1:p.Lys158fs, NP_056073.1:p.Lys158fs, XP_006717082.1:p.Lys90fs

Select item 147982896214.

rs1479828962 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 9:113169601 (GRCh38)
9:115931881 (GRCh37)
Canonical SPDI:: NC_000009.12:113169600:T:G
Gene:: FKBP15 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000009.12:g.113169601T>G, NC_000009.11:g.115931881T>G, XM_006717018.3:c.3078A>C, XM_006717018.2:c.3078A>C, XM_006717018.1:c.3078A>C, NM_015258.2:c.3108A>C, NM_015258.1:c.3108A>C, XM_006717019.2:c.2904A>C, XM_006717019.1:c.2904A>C, XP_006717081.1:p.Arg1026Ser, NP_056073.1:p.Arg1036Ser, XP_006717082.1:p.Arg968Ser

Select item 147883391615.

rs1478833916 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:113183791 (GRCh38)
9:115946071 (GRCh37)
Canonical SPDI:: NC_000009.12:113183790:G:A
Gene:: FKBP15 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
HGVS:: NC_000009.12:g.113183791G>A, NC_000009.11:g.115946071G>A, XM_006717018.3:c.1771C>T, XM_006717018.2:c.1771C>T, XM_006717018.1:c.1771C>T, NM_015258.2:c.1771C>T, NM_015258.1:c.1771C>T, XM_006717019.2:c.1567C>T, XM_006717019.1:c.1567C>T, XP_006717081.1:p.Gln591Ter, NP_056073.1:p.Gln591Ter, XP_006717082.1:p.Gln523Ter

Select item 147868488116.

rs1478684881 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:113174512 (GRCh38)
9:115936792 (GRCh37)
Canonical SPDI:: NC_000009.12:113174511:G:T
Gene:: FKBP15 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: T=0.0055/10 (Korea1K)
HGVS:: NC_000009.12:g.113174512G>T, NC_000009.11:g.115936792G>T, XM_006717018.3:c.2265C>A, XM_006717018.2:c.2265C>A, XM_006717018.1:c.2265C>A, NM_015258.2:c.2295C>A, NM_015258.1:c.2295C>A, XM_006717019.2:c.2091C>A, XM_006717019.1:c.2091C>A

Select item 147817173517.

rs1478171735 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:113202609 (GRCh38)
9:115964889 (GRCh37)
Canonical SPDI:: NC_000009.12:113202608:G:A
Gene:: FKBP15 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000009.12:g.113202609G>A, NC_000009.11:g.115964889G>A, XM_006717018.3:c.420C>T, XM_006717018.2:c.420C>T, XM_006717018.1:c.420C>T, NM_015258.2:c.420C>T, NM_015258.1:c.420C>T, XM_006717019.2:c.216C>T, XM_006717019.1:c.216C>T

Select item 147736616518.

rs1477366165 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 9:113169531 (GRCh38)
9:115931811 (GRCh37)
Canonical SPDI:: NC_000009.12:113169530:C:G,NC_000009.12:113169530:C:T
Gene:: FKBP15 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.113169531C>G, NC_000009.12:g.113169531C>T, NC_000009.11:g.115931811C>G, NC_000009.11:g.115931811C>T, XM_006717018.3:c.3148G>C, XM_006717018.3:c.3148G>A, XM_006717018.2:c.3148G>C, XM_006717018.2:c.3148G>A, XM_006717018.1:c.3148G>C, XM_006717018.1:c.3148G>A, NM_015258.2:c.3178G>C, NM_015258.2:c.3178G>A, NM_015258.1:c.3178G>C, NM_015258.1:c.3178G>A, XM_006717019.2:c.2974G>C, XM_006717019.2:c.2974G>A, XM_006717019.1:c.2974G>C, XM_006717019.1:c.2974G>A, XP_006717081.1:p.Glu1050Gln, XP_006717081.1:p.Glu1050Lys, NP_056073.1:p.Glu1060Gln, NP_056073.1:p.Glu1060Lys, XP_006717082.1:p.Glu992Gln, XP_006717082.1:p.Glu992Lys

Select item 147714614319.

rs1477146143 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 9:113184378 (GRCh38)
9:115946658 (GRCh37)
Canonical SPDI:: NC_000009.12:113184377:T:C,NC_000009.12:113184377:T:G
Gene:: FKBP15 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000013/3 (GnomAD_exomes)
HGVS:: NC_000009.12:g.113184378T>C, NC_000009.12:g.113184378T>G, NC_000009.11:g.115946658T>C, NC_000009.11:g.115946658T>G, XM_006717018.3:c.1630A>G, XM_006717018.3:c.1630A>C, XM_006717018.2:c.1630A>G, XM_006717018.2:c.1630A>C, XM_006717018.1:c.1630A>G, XM_006717018.1:c.1630A>C, NM_015258.2:c.1630A>G, NM_015258.2:c.1630A>C, NM_015258.1:c.1630A>G, NM_015258.1:c.1630A>C, XM_006717019.2:c.1426A>G, XM_006717019.2:c.1426A>C, XM_006717019.1:c.1426A>G, XM_006717019.1:c.1426A>C, XP_006717081.1:p.Ser544Gly, XP_006717081.1:p.Ser544Arg, NP_056073.1:p.Ser544Gly, NP_056073.1:p.Ser544Arg, XP_006717082.1:p.Ser476Gly, XP_006717082.1:p.Ser476Arg

Select item 147695980820.

rs1476959808 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 9:113178758 (GRCh38)
9:115941038 (GRCh37)
Canonical SPDI:: NC_000009.12:113178757:G:A,NC_000009.12:113178757:G:C
Gene:: FKBP15 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.113178758G>A, NC_000009.12:g.113178758G>C, NC_000009.11:g.115941038G>A, NC_000009.11:g.115941038G>C, XM_006717018.3:c.1928C>T, XM_006717018.3:c.1928C>G, XM_006717018.2:c.1928C>T, XM_006717018.2:c.1928C>G, XM_006717018.1:c.1928C>T, XM_006717018.1:c.1928C>G, NM_015258.2:c.1958C>T, NM_015258.2:c.1958C>G, NM_015258.1:c.1958C>T, NM_015258.1:c.1958C>G, XM_006717019.2:c.1754C>T, XM_006717019.2:c.1754C>G, XM_006717019.1:c.1754C>T, XM_006717019.1:c.1754C>G, XP_006717081.1:p.Ser643Phe, XP_006717081.1:p.Ser643Cys, NP_056073.1:p.Ser653Phe, NP_056073.1:p.Ser653Cys, XP_006717082.1:p.Ser585Phe, XP_006717082.1:p.Ser585Cys

dbSNP

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