SNP Links for Protein (Select 23397574) - SNP

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Links from Protein

Items: 1 to 20 of 508

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Select item 14902042201.

rs1490204220 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 15:75649391 (GRCh38)
15:75941732 (GRCh37)
Canonical SPDI:: NC_000015.10:75649390:G:T
Gene:: SNX33 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.75649391G>T, NC_000015.9:g.75941732G>T, NM_153271.2:c.289G>T, NM_153271.1:c.289G>T, NM_001318146.1:c.289G>T, NP_695003.1:p.Gly97Cys, NP_001305075.1:p.Gly97Cys

Select item 14894809282.

rs1489480928 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:75649807 (GRCh38)
15:75942148 (GRCh37)
Canonical SPDI:: NC_000015.10:75649806:G:A
Gene:: SNX33 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.75649807G>A, NC_000015.9:g.75942148G>A, NM_153271.2:c.705G>A, NM_153271.1:c.705G>A, NM_001318146.1:c.705G>A

Select item 14865691263.

rs1486569126 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:75649486 (GRCh38)
15:75941827 (GRCh37)
Canonical SPDI:: NC_000015.10:75649485:G:A
Gene:: SNX33 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.75649486G>A, NC_000015.9:g.75941827G>A, NM_153271.2:c.384G>A, NM_153271.1:c.384G>A, NM_001318146.1:c.384G>A

Select item 14820685434.

rs1482068543 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:75650537 (GRCh38)
15:75942878 (GRCh37)
Canonical SPDI:: NC_000015.10:75650536:C:T
Gene:: SNX33 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000015.10:g.75650537C>T, NC_000015.9:g.75942878C>T, NM_153271.2:c.1435C>T, NM_153271.1:c.1435C>T, NM_001318146.1:c.1213C>T, NP_695003.1:p.Leu479Phe, NP_001305075.1:p.Leu405Phe

Select item 14772999665.

rs1477299966 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:75657189 (GRCh38)
15:75949530 (GRCh37)
Canonical SPDI:: NC_000015.10:75657188:A:C
Gene:: SNX33 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000546/1 (Korea1K)
HGVS:: NC_000015.10:g.75657189A>C, NC_000015.9:g.75949530A>C, NM_153271.2:c.1699A>C, NM_153271.1:c.1699A>C, NM_001318146.1:c.1477A>C, NP_695003.1:p.Thr567Pro, NP_001305075.1:p.Thr493Pro

Select item 14755454706.

rs1475545470 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 15:75650550 (GRCh38)
15:75942891 (GRCh37)
Canonical SPDI:: NC_000015.10:75650549:C:G,NC_000015.10:75650549:C:T
Gene:: SNX33 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.75650550C>G, NC_000015.10:g.75650550C>T, NC_000015.9:g.75942891C>G, NC_000015.9:g.75942891C>T, NM_153271.2:c.1448C>G, NM_153271.2:c.1448C>T, NM_153271.1:c.1448C>G, NM_153271.1:c.1448C>T, NM_001318146.1:c.1226C>G, NM_001318146.1:c.1226C>T, NP_695003.1:p.Pro483Arg, NP_695003.1:p.Pro483Leu, NP_001305075.1:p.Pro409Arg, NP_001305075.1:p.Pro409Leu

Select item 14739476827.

rs1473947682 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 15:75649340 (GRCh38)
15:75941681 (GRCh37)
Canonical SPDI:: NC_000015.10:75649339:G:C
Gene:: SNX33 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.75649340G>C, NC_000015.9:g.75941681G>C, NM_153271.2:c.238G>C, NM_153271.1:c.238G>C, NM_001318146.1:c.238G>C, NP_695003.1:p.Ala80Pro, NP_001305075.1:p.Ala80Pro

Select item 14719800208.

rs1471980020 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:75650025 (GRCh38)
15:75942366 (GRCh37)
Canonical SPDI:: NC_000015.10:75650024:G:A
Gene:: SNX33 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.75650025G>A, NC_000015.9:g.75942366G>A, NM_153271.2:c.923G>A, NM_153271.1:c.923G>A, NM_001318146.1:c.923G>A, NP_695003.1:p.Arg308Gln, NP_001305075.1:p.Arg308Gln

Select item 14718881409.

rs1471888140 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:75649259 (GRCh38)
15:75941600 (GRCh37)
Canonical SPDI:: NC_000015.10:75649258:G:A
Gene:: SNX33 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.75649259G>A, NC_000015.9:g.75941600G>A, NM_153271.2:c.157G>A, NM_153271.1:c.157G>A, NM_001318146.1:c.157G>A, NP_695003.1:p.Ala53Thr, NP_001305075.1:p.Ala53Thr

Select item 147128453810.

rs1471284538 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 15:75649544 (GRCh38)
15:75941885 (GRCh37)
Canonical SPDI:: NC_000015.10:75649543:C:G,NC_000015.10:75649543:C:T
Gene:: SNX33 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000015.10:g.75649544C>G, NC_000015.10:g.75649544C>T, NC_000015.9:g.75941885C>G, NC_000015.9:g.75941885C>T, NM_153271.2:c.442C>G, NM_153271.2:c.442C>T, NM_153271.1:c.442C>G, NM_153271.1:c.442C>T, NM_001318146.1:c.442C>G, NM_001318146.1:c.442C>T, NP_695003.1:p.Pro148Ala, NP_695003.1:p.Pro148Ser, NP_001305075.1:p.Pro148Ala, NP_001305075.1:p.Pro148Ser

Select item 147082501211.

rs1470825012 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACTG>- [Show Flanks]
Chromosome:: 15:75649914 (GRCh38)
15:75942255 (GRCh37)
Canonical SPDI:: NC_000015.10:75649911:TGACTG:TG
Gene:: SNX33 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TG=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000007/1 (GnomAD)
-=0.000023/6 (TOPMED)
HGVS:: NC_000015.10:g.75649914_75649917del, NC_000015.9:g.75942255_75942258del, NM_153271.2:c.812_815del, NM_153271.1:c.812_815del, NM_001318146.1:c.812_815del, NP_695003.1:p.Asp271fs, NP_001305075.1:p.Asp271fs

Select item 146923730012.

rs1469237300 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 15:75649345 (GRCh38)
15:75941686 (GRCh37)
Canonical SPDI:: NC_000015.10:75649344:G:A,NC_000015.10:75649344:G:C
Gene:: SNX33 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000015.10:g.75649345G>A, NC_000015.10:g.75649345G>C, NC_000015.9:g.75941686G>A, NC_000015.9:g.75941686G>C, NM_153271.2:c.243G>A, NM_153271.2:c.243G>C, NM_153271.1:c.243G>A, NM_153271.1:c.243G>C, NM_001318146.1:c.243G>A, NM_001318146.1:c.243G>C, NP_695003.1:p.Gln81His, NP_001305075.1:p.Gln81His

Select item 146580281013.

rs1465802810 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:75649610 (GRCh38)
15:75941951 (GRCh37)
Canonical SPDI:: NC_000015.10:75649609:C:T
Gene:: SNX33 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.75649610C>T, NC_000015.9:g.75941951C>T, NM_153271.2:c.508C>T, NM_153271.1:c.508C>T, NM_001318146.1:c.508C>T

Select item 146480323514.

rs1464803235 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:75657003 (GRCh38)
15:75949344 (GRCh37)
Canonical SPDI:: NC_000015.10:75657002:G:A
Gene:: SNX33 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.75657003G>A, NC_000015.9:g.75949344G>A, NM_153271.2:c.1513G>A, NM_153271.1:c.1513G>A, NM_001318146.1:c.1291G>A, NP_695003.1:p.Glu505Lys, NP_001305075.1:p.Glu431Lys

Select item 146357982815.

rs1463579828 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:75649895 (GRCh38)
15:75942236 (GRCh37)
Canonical SPDI:: NC_000015.10:75649894:C:T
Gene:: SNX33 (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_000015.10:g.75649895C>T, NC_000015.9:g.75942236C>T, NM_153271.2:c.793C>T, NM_153271.1:c.793C>T, NM_001318146.1:c.793C>T, NP_695003.1:p.Arg265Trp, NP_001305075.1:p.Arg265Trp

Select item 146344079716.

rs1463440797 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:75650297 (GRCh38)
15:75942638 (GRCh37)
Canonical SPDI:: NC_000015.10:75650296:G:A
Gene:: SNX33 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.75650297G>A, NC_000015.9:g.75942638G>A, NM_153271.2:c.1195G>A, NM_153271.1:c.1195G>A, NM_001318146.1:c.1195G>A, NP_695003.1:p.Ala399Thr, NP_001305075.1:p.Ala399Thr

Select item 146315147517.

rs1463151475 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 15:75650070 (GRCh38)
15:75942411 (GRCh37)
Canonical SPDI:: NC_000015.10:75650069:T:G
Gene:: SNX33 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.75650070T>G, NC_000015.9:g.75942411T>G, NM_153271.2:c.968T>G, NM_153271.1:c.968T>G, NM_001318146.1:c.968T>G, NP_695003.1:p.Leu323Arg, NP_001305075.1:p.Leu323Arg

Select item 146198451618.

rs1461984516 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:75649565 (GRCh38)
15:75941906 (GRCh37)
Canonical SPDI:: NC_000015.10:75649564:C:T
Gene:: SNX33 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.75649565C>T, NC_000015.9:g.75941906C>T, NM_153271.2:c.463C>T, NM_153271.1:c.463C>T, NM_001318146.1:c.463C>T, NP_695003.1:p.His155Tyr, NP_001305075.1:p.His155Tyr

Select item 145894080519.

rs1458940805 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:75649754 (GRCh38)
15:75942095 (GRCh37)
Canonical SPDI:: NC_000015.10:75649753:C:A
Gene:: SNX33 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.75649754C>A, NC_000015.9:g.75942095C>A, NM_153271.2:c.652C>A, NM_153271.1:c.652C>A, NM_001318146.1:c.652C>A, NP_695003.1:p.Pro218Thr, NP_001305075.1:p.Pro218Thr

Select item 145611259820.

rs1456112598 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 15:75650034 (GRCh38)
15:75942375 (GRCh37)
Canonical SPDI:: NC_000015.10:75650033:T:G
Gene:: SNX33 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000015.10:g.75650034T>G, NC_000015.9:g.75942375T>G, NM_153271.2:c.932T>G, NM_153271.1:c.932T>G, NM_001318146.1:c.932T>G, NP_695003.1:p.Ile311Ser, NP_001305075.1:p.Ile311Ser

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