SNP Links for Protein (Select 18141316) - SNP

Links from Protein

Items: 1 to 20 of 248

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Select item 14909536041.

rs1490953604 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:9367512 (GRCh38)
1:9427571 (GRCh37)
Canonical SPDI:: NC_000001.11:9367511:C:T
Gene:: SPSB1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000001.11:g.9367512C>T, NC_000001.10:g.9427571C>T, NM_025106.4:c.759C>T, NM_025106.3:c.759C>T

Select item 14849512642.

rs1484951264 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:9355997 (GRCh38)
1:9416056 (GRCh37)
Canonical SPDI:: NC_000001.11:9355996:C:T
Gene:: SPSB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.9355997C>T, NC_000001.10:g.9416056C>T, NM_025106.4:c.106C>T, NM_025106.3:c.106C>T, NP_079382.2:p.Arg36Trp

Select item 14734851873.

rs1473485187 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:9356121 (GRCh38)
1:9416180 (GRCh37)
Canonical SPDI:: NC_000001.11:9356120:G:A
Gene:: SPSB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.9356121G>A, NC_000001.10:g.9416180G>A, NM_025106.4:c.230G>A, NM_025106.3:c.230G>A, NP_079382.2:p.Arg77Gln

Select item 14587522044.

rs1458752204 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:9355985 (GRCh38)
1:9416044 (GRCh37)
Canonical SPDI:: NC_000001.11:9355984:T:C
Gene:: SPSB1 (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_000001.11:g.9355985T>C, NC_000001.10:g.9416044T>C, NM_025106.4:c.94T>C, NM_025106.3:c.94T>C, NP_079382.2:p.Cys32Arg

Select item 14579214375.

rs1457921437 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:9356478 (GRCh38)
1:9416537 (GRCh37)
Canonical SPDI:: NC_000001.11:9356477:A:T
Gene:: SPSB1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000001.11:g.9356478A>T, NC_000001.10:g.9416537A>T, NM_025106.4:c.587A>T, NM_025106.3:c.587A>T, NP_079382.2:p.Tyr196Phe

Select item 14507194786.

rs1450719478 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:9367500 (GRCh38)
1:9427559 (GRCh37)
Canonical SPDI:: NC_000001.11:9367499:G:C
Gene:: SPSB1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.9367500G>C, NC_000001.10:g.9427559G>C, NM_025106.4:c.747G>C, NM_025106.3:c.747G>C

Select item 14503849617.

rs1450384961 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:9356205 (GRCh38)
1:9416264 (GRCh37)
Canonical SPDI:: NC_000001.11:9356204:C:T
Gene:: SPSB1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.9356205C>T, NC_000001.10:g.9416264C>T, NM_025106.4:c.314C>T, NM_025106.3:c.314C>T, NP_079382.2:p.Ala105Val

Select item 14385910728.

rs1438591072 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:9367498 (GRCh38)
1:9427557 (GRCh37)
Canonical SPDI:: NC_000001.11:9367497:C:T
Gene:: SPSB1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.9367498C>T, NC_000001.10:g.9427557C>T, NM_025106.4:c.745C>T, NM_025106.3:c.745C>T

Select item 14365797599.

rs1436579759 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAG>- [Show Flanks]
Chromosome:: 1:9355901 (GRCh38)
1:9415960 (GRCh37)
Canonical SPDI:: NC_000001.11:9355898:AGAAG:AG
Gene:: SPSB1 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: AG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.9355901_9355903del, NC_000001.10:g.9415960_9415962del, NM_025106.4:c.10_12del, NM_025106.3:c.10_12del, NP_079382.2:p.Lys4del

Select item 143609301610.

rs1436093016 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:9356381 (GRCh38)
1:9416440 (GRCh37)
Canonical SPDI:: NC_000001.11:9356380:T:C
Gene:: SPSB1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.9356381T>C, NC_000001.10:g.9416440T>C, NM_025106.4:c.490T>C, NM_025106.3:c.490T>C, NP_079382.2:p.Phe164Leu

Select item 143544993111.

rs1435449931 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:9356288 (GRCh38)
1:9416347 (GRCh37)
Canonical SPDI:: NC_000001.11:9356287:G:A
Gene:: SPSB1 (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_000001.11:g.9356288G>A, NC_000001.10:g.9416347G>A, NM_025106.4:c.397G>A, NM_025106.3:c.397G>A, NP_079382.2:p.Val133Met

Select item 143421168712.

rs1434211687 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:9356024 (GRCh38)
1:9416083 (GRCh37)
Canonical SPDI:: NC_000001.11:9356023:C:T
Gene:: SPSB1 (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=0.000014/2 (GnomAD)
T=0.00002/5 (GnomAD_exomes)
HGVS:: NC_000001.11:g.9356024C>T, NC_000001.10:g.9416083C>T, NM_025106.4:c.133C>T, NM_025106.3:c.133C>T, NP_079382.2:p.Pro45Ser

Select item 142736593413.

rs1427365934 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:9356438 (GRCh38)
1:9416497 (GRCh37)
Canonical SPDI:: NC_000001.11:9356437:A:G
Gene:: SPSB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.9356438A>G, NC_000001.10:g.9416497A>G, NM_025106.4:c.547A>G, NM_025106.3:c.547A>G, NP_079382.2:p.Met183Val

Select item 141756707614.

rs1417567076 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:9356099 (GRCh38)
1:9416158 (GRCh37)
Canonical SPDI:: NC_000001.11:9356098:G:A
Gene:: SPSB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000001.11:g.9356099G>A, NC_000001.10:g.9416158G>A, NM_025106.4:c.208G>A, NM_025106.3:c.208G>A, NP_079382.2:p.Asp70Asn

Select item 141653713515.

rs1416537135 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:9356113 (GRCh38)
1:9416172 (GRCh37)
Canonical SPDI:: NC_000001.11:9356112:C:T
Gene:: SPSB1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0.000048/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.9356113C>T, NC_000001.10:g.9416172C>T, NM_025106.4:c.222C>T, NM_025106.3:c.222C>T

Select item 141429535716.

rs1414295357 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:9356468 (GRCh38)
1:9416527 (GRCh37)
Canonical SPDI:: NC_000001.11:9356467:G:T
Gene:: SPSB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.9356468G>T, NC_000001.10:g.9416527G>T, NM_025106.4:c.577G>T, NM_025106.3:c.577G>T, NP_079382.2:p.Asp193Tyr

Select item 141307795417.

rs1413077954 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:9356207 (GRCh38)
1:9416266 (GRCh37)
Canonical SPDI:: NC_000001.11:9356206:A:G
Gene:: SPSB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.9356207A>G, NC_000001.10:g.9416266A>G, NM_025106.4:c.316A>G, NM_025106.3:c.316A>G, NP_079382.2:p.Met106Val

Select item 140867556718.

rs1408675567 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:9356576 (GRCh38)
1:9416635 (GRCh37)
Canonical SPDI:: NC_000001.11:9356575:G:A,NC_000001.11:9356575:G:T
Gene:: SPSB1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,stop_gained
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.9356576G>A, NC_000001.11:g.9356576G>T, NC_000001.10:g.9416635G>A, NC_000001.10:g.9416635G>T, NM_025106.4:c.685G>A, NM_025106.4:c.685G>T, NM_025106.3:c.685G>A, NM_025106.3:c.685G>T, NP_079382.2:p.Gly229Arg, NP_079382.2:p.Gly229Ter

Select item 140749600719.

rs1407496007 [Homo sapiens]

Variant type:: DEL
Alleles:: CTC>- [Show Flanks]
Chromosome:: 1:9356501 (GRCh38)
1:9416560 (GRCh37)
Canonical SPDI:: NC_000001.11:9356500:CTC:
Gene:: SPSB1 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa
MAF:: -=0.0004/4 (ALFA)
HGVS:: NC_000001.11:g.9356501_9356503del, NC_000001.10:g.9416560_9416562del, NM_025106.4:c.610_612del, NM_025106.3:c.610_612del, NP_079382.2:p.Leu204del

Select item 140024236720.

rs1400242367 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:9356356 (GRCh38)
1:9416415 (GRCh37)
Canonical SPDI:: NC_000001.11:9356355:C:G,NC_000001.11:9356355:C:T
Gene:: SPSB1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
T=0.000546/1 (Korea1K)
HGVS:: NC_000001.11:g.9356356C>G, NC_000001.11:g.9356356C>T, NC_000001.10:g.9416415C>G, NC_000001.10:g.9416415C>T, NM_025106.4:c.465C>G, NM_025106.4:c.465C>T, NM_025106.3:c.465C>G, NM_025106.3:c.465C>T, NP_079382.2:p.Asn155Lys

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