SNP Links for Protein (Select 110624785) - SNP

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Links from Protein

Items: 1 to 20 of 1206

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Select item 14904899211.

rs1490489921 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 19:55911927 (GRCh38)
19:56423293 (GRCh37)
Canonical SPDI:: NC_000019.10:55911926:A:G,NC_000019.10:55911926:A:T
Gene:: NLRP13 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.55911927A>G, NC_000019.10:g.55911927A>T, NC_000019.9:g.56423293A>G, NC_000019.9:g.56423293A>T, NG_053013.1:g.25410T>C, NG_053013.1:g.25410T>A, NM_176810.2:c.1890T>C, NM_176810.2:c.1890T>A, NM_001321057.1:c.1890T>C, NM_001321057.1:c.1890T>A

Select item 14891719352.

rs1489171935 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:55913204 (GRCh38)
19:56424570 (GRCh37)
Canonical SPDI:: NC_000019.10:55913203:G:A
Gene:: NLRP13 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000043/1 (ALFA)
A=0.00002/5 (GnomAD_exomes)
A=0.000023/6 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000019.10:g.55913204G>A, NC_000019.9:g.56424570G>A, NG_053013.1:g.24133C>T, NM_176810.2:c.613C>T, NM_001321057.1:c.613C>T, NP_789780.2:p.Arg205Cys, NP_001307986.1:p.Arg205Cys

Select item 14888071753.

rs1488807175 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:55932179 (GRCh38)
19:56443545 (GRCh37)
Canonical SPDI:: NC_000019.10:55932178:A:G
Gene:: NLRP13 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.55932179A>G, NC_000019.9:g.56443545A>G, NG_053013.1:g.5158T>C, NM_176810.2:c.133T>C, NM_001321057.1:c.133T>C, NP_789780.2:p.Trp45Arg, NP_001307986.1:p.Trp45Arg

Select item 14876880094.

rs1487688009 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:55912999 (GRCh38)
19:56424365 (GRCh37)
Canonical SPDI:: NC_000019.10:55912998:A:G
Gene:: NLRP13 (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)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.55912999A>G, NC_000019.9:g.56424365A>G, NG_053013.1:g.24338T>C, NM_176810.2:c.818T>C, NM_001321057.1:c.818T>C, NP_789780.2:p.Ile273Thr, NP_001307986.1:p.Ile273Thr

Select item 14868981495.

rs1486898149 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:55932145 (GRCh38)
19:56443511 (GRCh37)
Canonical SPDI:: NC_000019.10:55932144:G:C
Gene:: NLRP13 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000031/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.55932145G>C, NC_000019.9:g.56443511G>C, NG_053013.1:g.5192C>G, NM_176810.2:c.167C>G, NM_001321057.1:c.167C>G, NP_789780.2:p.Pro56Arg, NP_001307986.1:p.Pro56Arg

Select item 14867494856.

rs1486749485 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:55912892 (GRCh38)
19:56424258 (GRCh37)
Canonical SPDI:: NC_000019.10:55912891:T:C
Gene:: NLRP13 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.55912892T>C, NC_000019.9:g.56424258T>C, NG_053013.1:g.24445A>G, NM_176810.2:c.925A>G, NM_001321057.1:c.925A>G, NP_789780.2:p.Ile309Val, NP_001307986.1:p.Ile309Val

Select item 14862650297.

rs1486265029 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:55912251 (GRCh38)
19:56423617 (GRCh37)
Canonical SPDI:: NC_000019.10:55912250:A:T
Gene:: NLRP13 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000019.10:g.55912251A>T, NC_000019.9:g.56423617A>T, NG_053013.1:g.25086T>A, NM_176810.2:c.1566T>A, NM_001321057.1:c.1566T>A

Select item 14851800208.

rs1485180020 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 19:55932264 (GRCh38)
19:56443630 (GRCh37)
Canonical SPDI:: NC_000019.10:55932263:C:A,NC_000019.10:55932263:C:G
Gene:: NLRP13 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000066/1 (ALFA)
A=0.000004/1 (TOPMED)
G=0.000223/1 (Estonian)
HGVS:: NC_000019.10:g.55932264C>A, NC_000019.10:g.55932264C>G, NC_000019.9:g.56443630C>A, NC_000019.9:g.56443630C>G, NG_053013.1:g.5073G>T, NG_053013.1:g.5073G>C, NM_176810.2:c.48G>T, NM_176810.2:c.48G>C, NM_001321057.1:c.48G>T, NM_001321057.1:c.48G>C

Select item 14843000309.

rs1484300030 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:55912859 (GRCh38)
19:56424225 (GRCh37)
Canonical SPDI:: NC_000019.10:55912858:C:T
Gene:: NLRP13 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.55912859C>T, NC_000019.9:g.56424225C>T, NG_053013.1:g.24478G>A, NM_176810.2:c.958G>A, NM_001321057.1:c.958G>A, NP_789780.2:p.Glu320Lys, NP_001307986.1:p.Glu320Lys

Select item 148409717410.

rs1484097174 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:55898911 (GRCh38)
19:56410277 (GRCh37)
Canonical SPDI:: NC_000019.10:55898910:T:C
Gene:: NLRP13 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.55898911T>C, NC_000019.9:g.56410277T>C, NG_053013.1:g.38426A>G, NM_176810.2:c.2816A>G, NM_001321057.1:c.2816A>G, NP_789780.2:p.Glu939Gly, NP_001307986.1:p.Glu939Gly

Select item 148178730211.

rs1481787302 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:55896053 (GRCh38)
19:56407419 (GRCh37)
Canonical SPDI:: NC_000019.10:55896052:C:G,NC_000019.10:55896052:C:T
Gene:: NLRP13 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
HGVS:: NC_000019.10:g.55896053C>G, NC_000019.10:g.55896053C>T, NC_000019.9:g.56407419C>G, NC_000019.9:g.56407419C>T, NG_053013.1:g.41284G>C, NG_053013.1:g.41284G>A, NM_176810.2:c.3024G>C, NM_176810.2:c.3024G>A, NM_001321057.1:c.3024G>C, NM_001321057.1:c.3024G>A, NP_789780.2:p.Lys1008Asn, NP_001307986.1:p.Lys1008Asn

Select item 148080692112.

rs1480806921 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:55895983 (GRCh38)
19:56407349 (GRCh37)
Canonical SPDI:: NC_000019.10:55895982:A:G
Gene:: NLRP13 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.55895983A>G, NC_000019.9:g.56407349A>G, NG_053013.1:g.41354T>C, NM_176810.2:c.3094T>C

Select item 148067077013.

rs1480670770 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:55913084 (GRCh38)
19:56424450 (GRCh37)
Canonical SPDI:: NC_000019.10:55913083:C:A
Gene:: NLRP13 (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_000019.10:g.55913084C>A, NC_000019.9:g.56424450C>A, NG_053013.1:g.24253G>T, NM_176810.2:c.733G>T, NM_001321057.1:c.733G>T, NP_789780.2:p.Ala245Ser, NP_001307986.1:p.Ala245Ser

Select item 148061216514.

rs1480612165 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:55912586 (GRCh38)
19:56423952 (GRCh37)
Canonical SPDI:: NC_000019.10:55912585:G:A,NC_000019.10:55912585:G:C
Gene:: NLRP13 (Varview)
Functional Consequence:: stop_gained,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.55912586G>A, NC_000019.10:g.55912586G>C, NC_000019.9:g.56423952G>A, NC_000019.9:g.56423952G>C, NG_053013.1:g.24751C>T, NG_053013.1:g.24751C>G, NM_176810.2:c.1231C>T, NM_176810.2:c.1231C>G, NM_001321057.1:c.1231C>T, NM_001321057.1:c.1231C>G, NP_789780.2:p.Gln411Ter, NP_789780.2:p.Gln411Glu, NP_001307986.1:p.Gln411Ter, NP_001307986.1:p.Gln411Glu

Select item 147968946515.

rs1479689465 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:55912613 (GRCh38)
19:56423979 (GRCh37)
Canonical SPDI:: NC_000019.10:55912612:A:G
Gene:: NLRP13 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.55912613A>G, NC_000019.9:g.56423979A>G, NG_053013.1:g.24724T>C, NM_176810.2:c.1204T>C, NM_001321057.1:c.1204T>C, NP_789780.2:p.Ser402Pro, NP_001307986.1:p.Ser402Pro

Select item 147915970616.

rs1479159706 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 19:55932162 (GRCh38)
19:56443528 (GRCh37)
Canonical SPDI:: NC_000019.10:55932161:CCCC:CCC
Gene:: NLRP13 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: CCC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.55932165del, NC_000019.9:g.56443531del, NG_053013.1:g.5175del, NM_176810.2:c.150del, NM_001321057.1:c.150del, NP_789780.2:p.His51fs, NP_001307986.1:p.His51fs

Select item 147833927317.

rs1478339273 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:55923943 (GRCh38)
19:56435309 (GRCh37)
Canonical SPDI:: NC_000019.10:55923942:T:C
Gene:: NLRP13 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.55923943T>C, NC_000019.9:g.56435309T>C, NG_053013.1:g.13394A>G, NM_176810.2:c.494A>G, NM_001321057.1:c.494A>G, NP_789780.2:p.Gln165Arg, NP_001307986.1:p.Gln165Arg

Select item 147782882518.

rs1477828825 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:55912649 (GRCh38)
19:56424015 (GRCh37)
Canonical SPDI:: NC_000019.10:55912648:C:A,NC_000019.10:55912648:C:T
Gene:: NLRP13 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.55912649C>A, NC_000019.10:g.55912649C>T, NC_000019.9:g.56424015C>A, NC_000019.9:g.56424015C>T, NG_053013.1:g.24688G>T, NG_053013.1:g.24688G>A, NM_176810.2:c.1168G>T, NM_176810.2:c.1168G>A, NM_001321057.1:c.1168G>T, NM_001321057.1:c.1168G>A, NP_789780.2:p.Asp390Tyr, NP_789780.2:p.Asp390Asn, NP_001307986.1:p.Asp390Tyr, NP_001307986.1:p.Asp390Asn

Select item 147712930219.

rs1477129302 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:55912018 (GRCh38)
19:56423384 (GRCh37)
Canonical SPDI:: NC_000019.10:55912017:A:G
Gene:: NLRP13 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00008/2 (ALFA)
G=0.00022/1 (Estonian)
HGVS:: NC_000019.10:g.55912018A>G, NC_000019.9:g.56423384A>G, NG_053013.1:g.25319T>C, NM_176810.2:c.1799T>C, NM_001321057.1:c.1799T>C, NP_789780.2:p.Leu600Pro, NP_001307986.1:p.Leu600Pro

Select item 147607063520.

rs1476070635 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:55911850 (GRCh38)
19:56423216 (GRCh37)
Canonical SPDI:: NC_000019.10:55911849:C:T
Gene:: NLRP13 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000019.10:g.55911850C>T, NC_000019.9:g.56423216C>T, NG_053013.1:g.25487G>A, NM_176810.2:c.1967G>A, NM_001321057.1:c.1967G>A, NP_789780.2:p.Gly656Asp, NP_001307986.1:p.Gly656Asp

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