SNP Links for Protein (Select 209529703) - SNP

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:1605025 (GRCh38)
20:1585671 (GRCh37)
Canonical SPDI:: NC_000020.11:1605024:C:T
Gene:: SIRPB1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.00002/2 (GnomAD_exomes)
T=0.00016/2 (TOMMO)
HGVS:: NC_000020.11:g.1605025C>T, NC_000020.10:g.1585671C>T, NM_001135844.4:c.468G>A, NM_001135844.3:c.468G>A, NM_001135844.2:c.468G>A, NM_001329157.2:c.468G>A, NM_001329157.1:c.468G>A, XR_007067441.1:n.533G>A

Select item 14648715209.

rs1464871520 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:1604925 (GRCh38)
20:1585571 (GRCh37)
Canonical SPDI:: NC_000020.11:1604924:G:A
Gene:: SIRPB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000020.11:g.1604925G>A, NC_000020.10:g.1585571G>A, NM_001135844.4:c.568C>T, NM_001135844.3:c.568C>T, NM_001135844.2:c.568C>T, NM_001329157.2:c.568C>T, NM_001329157.1:c.568C>T, XR_007067441.1:n.633C>T, NP_001129316.1:p.Leu190Phe, NP_001316086.1:p.Leu190Phe

Select item 146092620310.

rs1460926203 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:1619941 (GRCh38)
20:1600587 (GRCh37)
Canonical SPDI:: NC_000020.11:1619940:G:A
Gene:: SIRPB1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.1619941G>A, NC_000020.10:g.1600587G>A, NM_006065.5:c.4C>T, NM_006065.4:c.4C>T, NM_006065.3:c.4C>T, NM_001083910.4:c.4C>T, NM_001083910.3:c.4C>T, NM_001083910.2:c.4C>T, NM_001135844.4:c.4C>T, NM_001135844.3:c.4C>T, NM_001135844.2:c.4C>T, NM_001329157.2:c.4C>T, NM_001329157.1:c.4C>T, XR_007067441.1:n.69C>T, NP_006056.2:p.Pro2Ser, NP_001077379.1:p.Pro2Ser, NP_001129316.1:p.Pro2Ser, NP_001316086.1:p.Pro2Ser

Select item 145845586311.

rs1458455863 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:1611586 (GRCh38)
20:1592232 (GRCh37)
Canonical SPDI:: NC_000020.11:1611585:G:A
Gene:: SIRPB1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000044/8 (GnomAD_exomes)
A=0.000312/2 (1000Genomes)
HGVS:: NC_000020.11:g.1611586G>A, NC_000020.10:g.1592232G>A, NM_001135844.4:c.204C>T, NM_001135844.3:c.204C>T, NM_001135844.2:c.204C>T, NM_001329157.2:c.204C>T, NM_001329157.1:c.204C>T, XR_007067441.1:n.269C>T

Select item 145842739012.

rs1458427390 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:1603936 (GRCh38)
20:1584582 (GRCh37)
Canonical SPDI:: NC_000020.11:1603935:A:G
Gene:: SIRPB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.00002/2 (GnomAD_exomes)
HGVS:: NC_000020.11:g.1603936A>G, NC_000020.10:g.1584582A>G, NM_001135844.4:c.958T>C, NM_001135844.3:c.958T>C, NM_001135844.2:c.958T>C, NM_001329157.2:c.958T>C, NM_001329157.1:c.958T>C, XR_007067441.1:n.1023T>C, NP_001129316.1:p.Ser320Pro, NP_001316086.1:p.Ser320Pro

Select item 145430041313.

rs1454300413 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:1604898 (GRCh38)
20:1585544 (GRCh37)
Canonical SPDI:: NC_000020.11:1604897:G:A
Gene:: SIRPB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000020.11:g.1604898G>A, NC_000020.10:g.1585544G>A, NM_001135844.4:c.595C>T, NM_001135844.3:c.595C>T, NM_001135844.2:c.595C>T, NM_001329157.2:c.595C>T, NM_001329157.1:c.595C>T, XR_007067441.1:n.660C>T, NP_001129316.1:p.Pro199Ser, NP_001316086.1:p.Pro199Ser

Select item 145162525914.

rs1451625259 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:1598830 (GRCh38)
20:1579476 (GRCh37)
Canonical SPDI:: NC_000020.11:1598829:C:G
Gene:: SIRPB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000020.11:g.1598830C>G, NC_000020.10:g.1579476C>G, NM_001135844.4:c.1191G>C, NM_001135844.3:c.1191G>C, NM_001135844.2:c.1191G>C, NM_001329157.2:c.1191G>C, NM_001329157.1:c.1191G>C, XR_007067441.1:n.5337G>C, NP_001129316.1:p.Lys397Asn, NP_001316086.1:p.Lys397Asn

Select item 143782378215.

rs1437823782 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 20:1611634 (GRCh38)
20:1592280 (GRCh37)
Canonical SPDI:: NC_000020.11:1611633:C:A,NC_000020.11:1611633:C:T
Gene:: SIRPB1 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000020.11:g.1611634C>A, NC_000020.11:g.1611634C>T, NC_000020.10:g.1592280C>A, NC_000020.10:g.1592280C>T, NM_001135844.4:c.156G>T, NM_001135844.4:c.156G>A, NM_001135844.3:c.156G>T, NM_001135844.3:c.156G>A, NM_001135844.2:c.156G>T, NM_001135844.2:c.156G>A, NM_001329157.2:c.156G>T, NM_001329157.2:c.156G>A, NM_001329157.1:c.156G>T, NM_001329157.1:c.156G>A, XR_007067441.1:n.221G>T, XR_007067441.1:n.221G>A

Select item 143385378716.

rs1433853787 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:1598835 (GRCh38)
20:1579481 (GRCh37)
Canonical SPDI:: NC_000020.11:1598834:G:A
Gene:: SIRPB1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,stop_gained
HGVS:: NC_000020.11:g.1598835G>A, NC_000020.10:g.1579481G>A, NM_001135844.4:c.1186C>T, NM_001135844.3:c.1186C>T, NM_001135844.2:c.1186C>T, NM_001329157.2:c.1186C>T, NM_001329157.1:c.1186C>T, XR_007067441.1:n.5332C>T, NP_001129316.1:p.Gln396Ter, NP_001316086.1:p.Gln396Ter

Select item 142371981317.

rs1423719813 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:1604059 (GRCh38)
20:1584705 (GRCh37)
Canonical SPDI:: NC_000020.11:1604058:G:C
Gene:: SIRPB1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.1604059G>C, NC_000020.10:g.1584705G>C, NM_001135844.4:c.835C>G, NM_001135844.3:c.835C>G, NM_001135844.2:c.835C>G, NM_001329157.2:c.835C>G, NM_001329157.1:c.835C>G, XR_007067441.1:n.900C>G, NP_001129316.1:p.Pro279Ala, NP_001316086.1:p.Pro279Ala

Select item 141601900718.

rs1416019007 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:1619934 (GRCh38)
20:1600580 (GRCh37)
Canonical SPDI:: NC_000020.11:1619933:G:A
Gene:: SIRPB1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.1619934G>A, NC_000020.10:g.1600580G>A, NM_006065.5:c.11C>T, NM_006065.4:c.11C>T, NM_006065.3:c.11C>T, NM_001083910.4:c.11C>T, NM_001083910.3:c.11C>T, NM_001083910.2:c.11C>T, NM_001135844.4:c.11C>T, NM_001135844.3:c.11C>T, NM_001135844.2:c.11C>T, NM_001329157.2:c.11C>T, NM_001329157.1:c.11C>T, XR_007067441.1:n.76C>T, NP_006056.2:p.Pro4Leu, NP_001077379.1:p.Pro4Leu, NP_001129316.1:p.Pro4Leu, NP_001316086.1:p.Pro4Leu

Select item 141305538619.

rs1413055386 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 20:1611673 (GRCh38)
20:1592319 (GRCh37)
Canonical SPDI:: NC_000020.11:1611672:G:C,NC_000020.11:1611672:G:T
Gene:: SIRPB1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
T=0.000006/1 (GnomAD_exomes)
C=0.000015/4 (TOPMED)
HGVS:: NC_000020.11:g.1611673G>C, NC_000020.11:g.1611673G>T, NC_000020.10:g.1592319G>C, NC_000020.10:g.1592319G>T, NM_001135844.4:c.117C>G, NM_001135844.4:c.117C>A, NM_001135844.3:c.117C>G, NM_001135844.3:c.117C>A, NM_001135844.2:c.117C>G, NM_001135844.2:c.117C>A, NM_001329157.2:c.117C>G, NM_001329157.2:c.117C>A, NM_001329157.1:c.117C>G, NM_001329157.1:c.117C>A, XR_007067441.1:n.182C>G, XR_007067441.1:n.182C>A, NP_001129316.1:p.Asp39Glu, NP_001129316.1:p.Asp39Glu, NP_001316086.1:p.Asp39Glu, NP_001316086.1:p.Asp39Glu

Select item 140840114020.

rs1408401140 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:1611379 (GRCh38)
20:1592025 (GRCh37)
Canonical SPDI:: NC_000020.11:1611378:T:C
Gene:: SIRPB1 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
HGVS:: NC_000020.11:g.1611379T>C, NC_000020.10:g.1592025T>C, NM_001135844.4:c.411A>G, NM_001135844.3:c.411A>G, NM_001135844.2:c.411A>G, NM_001329157.2:c.411A>G, NM_001329157.1:c.411A>G, XR_007067441.1:n.476A>G

<< First< Prev

Page of 16

Next >Last >>

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 303

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity