SNP Links for Protein (Select 4502363) - SNP

Links from Protein

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Select item 14906268801.

rs1490626880 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:33575824 (GRCh38)
6:33543601 (GRCh37)
Canonical SPDI:: NC_000006.12:33575823:C:A
Gene:: BAK1 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,5_prime_UTR_variant
HGVS:: NC_000006.12:g.33575824C>A, NC_000006.11:g.33543601C>A, XM_011514779.4:c.175G>T, XM_011514779.3:c.175G>T, XM_011514779.2:c.175G>T, XM_011514779.1:c.175G>T, NM_001188.4:c.175G>T, NM_001188.3:c.175G>T, XM_011514780.2:c.-3G>T, XM_011514780.1:c.-3G>T, XM_047419196.1:c.-3G>T, XM_047419194.1:c.175G>T, XP_011513081.1:p.Glu59Ter, NP_001179.1:p.Glu59Ter, XP_047275150.1:p.Glu59Ter

Select item 14695082742.

rs1469508274 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 6:33575928 (GRCh38)
6:33543705 (GRCh37)
Canonical SPDI:: NC_000006.12:33575927:T:C,NC_000006.12:33575927:T:G
Gene:: BAK1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.33575928T>C, NC_000006.12:g.33575928T>G, NC_000006.11:g.33543705T>C, NC_000006.11:g.33543705T>G, XM_011514779.4:c.71A>G, XM_011514779.4:c.71A>C, XM_011514779.3:c.71A>G, XM_011514779.3:c.71A>C, XM_011514779.2:c.71A>G, XM_011514779.2:c.71A>C, XM_011514779.1:c.71A>G, XM_011514779.1:c.71A>C, NM_001188.4:c.71A>G, NM_001188.4:c.71A>C, NM_001188.3:c.71A>G, NM_001188.3:c.71A>C, XM_047419194.1:c.71A>G, XM_047419194.1:c.71A>C, XP_011513081.1:p.Glu24Gly, XP_011513081.1:p.Glu24Ala, NP_001179.1:p.Glu24Gly, NP_001179.1:p.Glu24Ala, XP_047275150.1:p.Glu24Gly, XP_047275150.1:p.Glu24Ala

Select item 14649552603.

rs1464955260 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:33573895 (GRCh38)
6:33541672 (GRCh37)
Canonical SPDI:: NC_000006.12:33573894:T:C
Gene:: BAK1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.33573895T>C, NC_000006.11:g.33541672T>C, XM_011514779.4:c.544A>G, XM_011514779.3:c.544A>G, XM_011514779.2:c.544A>G, XM_011514779.1:c.544A>G, NM_001188.4:c.544A>G, NM_001188.3:c.544A>G, XM_011514780.2:c.367A>G, XM_011514780.1:c.367A>G, XM_047419196.1:c.367A>G, XP_011513081.1:p.Asn182Asp, NP_001179.1:p.Asn182Asp, XP_011513082.1:p.Asn123Asp, XP_047275152.1:p.Asn123Asp

Select item 14515203124.

rs1451520312 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:33573858 (GRCh38)
6:33541635 (GRCh37)
Canonical SPDI:: NC_000006.12:33573857:A:G
Gene:: BAK1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000006.12:g.33573858A>G, NC_000006.11:g.33541635A>G, XM_011514779.4:c.581T>C, XM_011514779.3:c.581T>C, XM_011514779.2:c.581T>C, XM_011514779.1:c.581T>C, NM_001188.4:c.581T>C, NM_001188.3:c.581T>C, XM_011514780.2:c.404T>C, XM_011514780.1:c.404T>C, XM_047419196.1:c.404T>C, XP_011513081.1:p.Val194Ala, NP_001179.1:p.Val194Ala, XP_011513082.1:p.Val135Ala, XP_047275152.1:p.Val135Ala

Select item 14504075025.

rs1450407502 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 6:33573851 (GRCh38)
6:33541628 (GRCh37)
Canonical SPDI:: NC_000006.12:33573850:A:C,NC_000006.12:33573850:A:G
Gene:: BAK1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
C=0.001092/2 (Korea1K)
HGVS:: NC_000006.12:g.33573851A>C, NC_000006.12:g.33573851A>G, NC_000006.11:g.33541628A>C, NC_000006.11:g.33541628A>G, XM_011514779.4:c.588T>G, XM_011514779.4:c.588T>C, XM_011514779.3:c.588T>G, XM_011514779.3:c.588T>C, XM_011514779.2:c.588T>G, XM_011514779.2:c.588T>C, XM_011514779.1:c.588T>G, XM_011514779.1:c.588T>C, NM_001188.4:c.588T>G, NM_001188.4:c.588T>C, NM_001188.3:c.588T>G, NM_001188.3:c.588T>C, XM_011514780.2:c.411T>G, XM_011514780.2:c.411T>C, XM_011514780.1:c.411T>G, XM_011514780.1:c.411T>C, XM_047419196.1:c.411T>G, XM_047419196.1:c.411T>C

Select item 14498061966.

rs1449806196 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:33574034 (GRCh38)
6:33541811 (GRCh37)
Canonical SPDI:: NC_000006.12:33574033:C:A
Gene:: BAK1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000029/4 (GnomAD)
HGVS:: NC_000006.12:g.33574034C>A, NC_000006.11:g.33541811C>A, XM_011514779.4:c.531G>T, XM_011514779.3:c.531G>T, XM_011514779.2:c.531G>T, XM_011514779.1:c.531G>T, NM_001188.4:c.531G>T, NM_001188.3:c.531G>T, XM_011514780.2:c.354G>T, XM_011514780.1:c.354G>T, XM_047419196.1:c.354G>T, XP_011513081.1:p.Trp177Cys, NP_001179.1:p.Trp177Cys, XP_011513082.1:p.Trp118Cys, XP_047275152.1:p.Trp118Cys

Select item 14497572867.

rs1449757286 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:33575806 (GRCh38)
6:33543583 (GRCh37)
Canonical SPDI:: NC_000006.12:33575805:G:A
Gene:: BAK1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.33575806G>A, NC_000006.11:g.33543583G>A, XM_011514779.4:c.193C>T, XM_011514779.3:c.193C>T, XM_011514779.2:c.193C>T, XM_011514779.1:c.193C>T, NM_001188.4:c.193C>T, NM_001188.3:c.193C>T, XM_011514780.2:c.16C>T, XM_011514780.1:c.16C>T, XM_047419196.1:c.16C>T, XM_047419194.1:c.193C>T

Select item 14327235098.

rs1432723509 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:33577542 (GRCh38)
6:33545319 (GRCh37)
Canonical SPDI:: NC_000006.12:33577541:A:T
Gene:: BAK1 (Varview)
Functional Consequence:: synonymous_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.33577542A>T, NC_000006.11:g.33545319A>T, XM_011514779.4:c.63T>A, XM_011514779.3:c.63T>A, XM_011514779.2:c.63T>A, XM_011514779.1:c.63T>A, NM_001188.4:c.63T>A, NM_001188.3:c.63T>A, XM_011514780.2:c.-53T>A, XM_011514780.1:c.-53T>A, XM_047419194.1:c.63T>A

Select item 14299524189.

rs1429952418 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:33574112 (GRCh38)
6:33541889 (GRCh37)
Canonical SPDI:: NC_000006.12:33574111:T:C
Gene:: BAK1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (PRJEB36033)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.33574112T>C, NC_000006.11:g.33541889T>C, XM_011514779.4:c.453A>G, XM_011514779.3:c.453A>G, XM_011514779.2:c.453A>G, XM_011514779.1:c.453A>G, NM_001188.4:c.453A>G, NM_001188.3:c.453A>G, XM_011514780.2:c.276A>G, XM_011514780.1:c.276A>G, XM_047419196.1:c.276A>G

Select item 142902839710.

rs1429028397 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:33573818 (GRCh38)
6:33541595 (GRCh37)
Canonical SPDI:: NC_000006.12:33573817:T:C
Gene:: BAK1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.33573818T>C, NC_000006.11:g.33541595T>C, XM_011514779.4:c.621A>G, XM_011514779.3:c.621A>G, XM_011514779.2:c.621A>G, XM_011514779.1:c.621A>G, NM_001188.4:c.621A>G, NM_001188.3:c.621A>G, XM_011514780.2:c.444A>G, XM_011514780.1:c.444A>G, XM_047419196.1:c.444A>G

Select item 142832713911.

rs1428327139 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:33574158 (GRCh38)
6:33541935 (GRCh37)
Canonical SPDI:: NC_000006.12:33574157:T:C
Gene:: BAK1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.33574158T>C, NC_000006.11:g.33541935T>C, XM_011514779.4:c.407A>G, XM_011514779.3:c.407A>G, XM_011514779.2:c.407A>G, XM_011514779.1:c.407A>G, NM_001188.4:c.407A>G, NM_001188.3:c.407A>G, XM_011514780.2:c.230A>G, XM_011514780.1:c.230A>G, XM_047419196.1:c.230A>G, XP_011513081.1:p.Tyr136Cys, NP_001179.1:p.Tyr136Cys, XP_011513082.1:p.Tyr77Cys, XP_047275152.1:p.Tyr77Cys

Select item 142388717312.

rs1423887173 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:33575360 (GRCh38)
6:33543137 (GRCh37)
Canonical SPDI:: NC_000006.12:33575359:C:G
Gene:: BAK1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.000035/1 (TOMMO)
HGVS:: NC_000006.12:g.33575360C>G, NC_000006.11:g.33543137C>G, XM_011514779.4:c.288G>C, XM_011514779.3:c.288G>C, XM_011514779.2:c.288G>C, XM_011514779.1:c.288G>C, NM_001188.4:c.288G>C, NM_001188.3:c.288G>C, XM_011514780.2:c.111G>C, XM_011514780.1:c.111G>C, XM_047419196.1:c.111G>C, XM_047419194.1:c.288G>C, XP_011513081.1:p.Met96Ile, NP_001179.1:p.Met96Ile, XP_011513082.1:p.Met37Ile, XP_047275152.1:p.Met37Ile, XP_047275150.1:p.Met96Ile

Select item 141701386713.

rs1417013867 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:33574087 (GRCh38)
6:33541864 (GRCh37)
Canonical SPDI:: NC_000006.12:33574086:C:A,NC_000006.12:33574086:C:T
Gene:: BAK1 (Varview)
Functional Consequence:: downstream_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.33574087C>A, NC_000006.12:g.33574087C>T, NC_000006.11:g.33541864C>A, NC_000006.11:g.33541864C>T, XM_011514779.4:c.478G>T, XM_011514779.4:c.478G>A, XM_011514779.3:c.478G>T, XM_011514779.3:c.478G>A, XM_011514779.2:c.478G>T, XM_011514779.2:c.478G>A, XM_011514779.1:c.478G>T, XM_011514779.1:c.478G>A, NM_001188.4:c.478G>T, NM_001188.4:c.478G>A, NM_001188.3:c.478G>T, NM_001188.3:c.478G>A, XM_011514780.2:c.301G>T, XM_011514780.2:c.301G>A, XM_011514780.1:c.301G>T, XM_011514780.1:c.301G>A, XM_047419196.1:c.301G>T, XM_047419196.1:c.301G>A, XP_011513081.1:p.Asp160Tyr, XP_011513081.1:p.Asp160Asn, NP_001179.1:p.Asp160Tyr, NP_001179.1:p.Asp160Asn, XP_011513082.1:p.Asp101Tyr, XP_011513082.1:p.Asp101Asn, XP_047275152.1:p.Asp101Tyr, XP_047275152.1:p.Asp101Asn

Select item 141452575314.

rs1414525753 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:33575410 (GRCh38)
6:33543187 (GRCh37)
Canonical SPDI:: NC_000006.12:33575409:T:C
Gene:: BAK1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.33575410T>C, NC_000006.11:g.33543187T>C, XM_011514779.4:c.238A>G, XM_011514779.3:c.238A>G, XM_011514779.2:c.238A>G, XM_011514779.1:c.238A>G, NM_001188.4:c.238A>G, NM_001188.3:c.238A>G, XM_011514780.2:c.61A>G, XM_011514780.1:c.61A>G, XM_047419196.1:c.61A>G, XM_047419194.1:c.238A>G, XP_011513081.1:p.Ile80Val, NP_001179.1:p.Ile80Val, XP_011513082.1:p.Ile21Val, XP_047275152.1:p.Ile21Val, XP_047275150.1:p.Ile80Val

Select item 141154821915.

rs1411548219 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:33574058 (GRCh38)
6:33541835 (GRCh37)
Canonical SPDI:: NC_000006.12:33574057:C:A
Gene:: BAK1 (Varview)
Functional Consequence:: downstream_transcript_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.33574058C>A, NC_000006.11:g.33541835C>A, XM_011514779.4:c.507G>T, XM_011514779.3:c.507G>T, XM_011514779.2:c.507G>T, XM_011514779.1:c.507G>T, NM_001188.4:c.507G>T, NM_001188.3:c.507G>T, XM_011514780.2:c.330G>T, XM_011514780.1:c.330G>T, XM_047419196.1:c.330G>T

Select item 141151599916.

rs1411515999 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:33575901 (GRCh38)
6:33543678 (GRCh37)
Canonical SPDI:: NC_000006.12:33575900:T:G
Gene:: BAK1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.33575901T>G, NC_000006.11:g.33543678T>G, XM_011514779.4:c.98A>C, XM_011514779.3:c.98A>C, XM_011514779.2:c.98A>C, XM_011514779.1:c.98A>C, NM_001188.4:c.98A>C, NM_001188.3:c.98A>C, XM_047419194.1:c.98A>C, XP_011513081.1:p.Glu33Ala, NP_001179.1:p.Glu33Ala, XP_047275150.1:p.Glu33Ala

Select item 139229890117.

rs1392298901 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:33574064 (GRCh38)
6:33541841 (GRCh37)
Canonical SPDI:: NC_000006.12:33574063:A:G
Gene:: BAK1 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.33574064A>G, NC_000006.11:g.33541841A>G, XM_011514779.4:c.501T>C, XM_011514779.3:c.501T>C, XM_011514779.2:c.501T>C, XM_011514779.1:c.501T>C, NM_001188.4:c.501T>C, NM_001188.3:c.501T>C, XM_011514780.2:c.324T>C, XM_011514780.1:c.324T>C, XM_047419196.1:c.324T>C

Select item 138937075418.

rs1389370754 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:33573853 (GRCh38)
6:33541630 (GRCh37)
Canonical SPDI:: NC_000006.12:33573852:C:T
Gene:: BAK1 (Varview)
Functional Consequence:: downstream_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.33573853C>T, NC_000006.11:g.33541630C>T, XM_011514779.4:c.586G>A, XM_011514779.3:c.586G>A, XM_011514779.2:c.586G>A, XM_011514779.1:c.586G>A, NM_001188.4:c.586G>A, NM_001188.3:c.586G>A, XM_011514780.2:c.409G>A, XM_011514780.1:c.409G>A, XM_047419196.1:c.409G>A, XP_011513081.1:p.Gly196Ser, NP_001179.1:p.Gly196Ser, XP_011513082.1:p.Gly137Ser, XP_047275152.1:p.Gly137Ser

Select item 138491885019.

rs1384918850 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:33577536 (GRCh38)
6:33545313 (GRCh37)
Canonical SPDI:: NC_000006.12:33577535:A:G
Gene:: BAK1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.33577536A>G, NC_000006.11:g.33545313A>G, XM_011514779.4:c.69T>C, XM_011514779.3:c.69T>C, XM_011514779.2:c.69T>C, XM_011514779.1:c.69T>C, NM_001188.4:c.69T>C, NM_001188.3:c.69T>C, XM_011514780.2:c.-47T>C, XM_011514780.1:c.-47T>C, XM_047419194.1:c.69T>C

Select item 137812139720.

rs1378121397 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:33574044 (GRCh38)
6:33541821 (GRCh37)
Canonical SPDI:: NC_000006.12:33574043:C:T
Gene:: BAK1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.33574044C>T, NC_000006.11:g.33541821C>T, XM_011514779.4:c.521G>A, XM_011514779.3:c.521G>A, XM_011514779.2:c.521G>A, XM_011514779.1:c.521G>A, NM_001188.4:c.521G>A, NM_001188.3:c.521G>A, XM_011514780.2:c.344G>A, XM_011514780.1:c.344G>A, XM_047419196.1:c.344G>A, XP_011513081.1:p.Arg174Lys, NP_001179.1:p.Arg174Lys, XP_011513082.1:p.Arg115Lys, XP_047275152.1:p.Arg115Lys

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