SNP Links for Protein (Select 158321897) - SNP

Links from Protein

Items: 1 to 20 of 1550

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Select item 14901450041.

rs1490145004 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:56058378 (GRCh38)
19:56569744 (GRCh37)
Canonical SPDI:: NC_000019.10:56058377:T:G
Gene:: NLRP5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.56058378T>G, NC_000019.9:g.56569744T>G, NG_046924.1:g.76596T>G, NM_153447.4:c.3438T>G, NP_703148.4:p.Phe1146Leu

Select item 14900128162.

rs1490012816 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:56027834 (GRCh38)
19:56539200 (GRCh37)
Canonical SPDI:: NC_000019.10:56027833:T:C
Gene:: NLRP5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.56027834T>C, NC_000019.9:g.56539200T>C, NG_046924.1:g.46052T>C, NM_153447.4:c.1601T>C, NP_703148.4:p.Met534Thr

Select item 14898808643.

rs1489880864 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:56027587 (GRCh38)
19:56538953 (GRCh37)
Canonical SPDI:: NC_000019.10:56027586:A:G
Gene:: NLRP5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.56027587A>G, NC_000019.9:g.56538953A>G, NG_046924.1:g.45805A>G, NM_153447.4:c.1354A>G, NP_703148.4:p.Thr452Ala

Select item 14891400214.

rs1489140021 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:56003951 (GRCh38)
19:56515317 (GRCh37)
Canonical SPDI:: NC_000019.10:56003950:G:T
Gene:: NLRP5 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.56003951G>T, NC_000019.9:g.56515317G>T, NG_046924.1:g.22169G>T, NM_153447.4:c.298G>T, NP_703148.4:p.Glu100Ter

Select item 14890837965.

rs1489083796 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:56032740 (GRCh38)
19:56544106 (GRCh37)
Canonical SPDI:: NC_000019.10:56032739:T:C
Gene:: NLRP5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.56032740T>C, NC_000019.9:g.56544106T>C, NG_046924.1:g.50958T>C, NM_153447.4:c.2406T>C

Select item 14885625756.

rs1488562575 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:56003840 (GRCh38)
19:56515206 (GRCh37)
Canonical SPDI:: NC_000019.10:56003839:T:C
Gene:: NLRP5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.56003840T>C, NC_000019.9:g.56515206T>C, NG_046924.1:g.22058T>C, NM_153447.4:c.187T>C, NP_703148.4:p.Tyr63His

Select item 14881022897.

rs1488102289 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:56028509 (GRCh38)
19:56539875 (GRCh37)
Canonical SPDI:: NC_000019.10:56028508:G:A,NC_000019.10:56028508:G:C
Gene:: NLRP5 (Varview)
Functional Consequence:: stop_gained,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.56028509G>A, NC_000019.10:g.56028509G>C, NC_000019.9:g.56539875G>A, NC_000019.9:g.56539875G>C, NG_046924.1:g.46727G>A, NG_046924.1:g.46727G>C, NM_153447.4:c.2276G>A, NM_153447.4:c.2276G>C, NP_703148.4:p.Trp759Ter, NP_703148.4:p.Trp759Ser

Select item 14868669758.

rs1486866975 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:56061396 (GRCh38)
19:56572762 (GRCh37)
Canonical SPDI:: NC_000019.10:56061395:G:T
Gene:: NLRP5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.56061396G>T, NC_000019.9:g.56572762G>T, NG_046924.1:g.79614G>T, NM_153447.4:c.3471G>T

Select item 14865654529.

rs1486565452 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:56027293 (GRCh38)
19:56538659 (GRCh37)
Canonical SPDI:: NC_000019.10:56027292:C:A
Gene:: NLRP5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.56027293C>A, NC_000019.9:g.56538659C>A, NG_046924.1:g.45511C>A, NM_153447.4:c.1060C>A, NP_703148.4:p.Pro354Thr

Select item 148608945010.

rs1486089450 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:56015779 (GRCh38)
19:56527145 (GRCh37)
Canonical SPDI:: NC_000019.10:56015778:T:G
Gene:: NLRP5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.56015779T>G, NC_000019.9:g.56527145T>G, NG_046924.1:g.33997T>G, NM_153447.4:c.546T>G

Select item 148203752111.

rs1482037521 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:56019343 (GRCh38)
19:56530709 (GRCh37)
Canonical SPDI:: NC_000019.10:56019342:A:C
Gene:: NLRP5 (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_000019.10:g.56019343A>C, NC_000019.9:g.56530709A>C, NG_046924.1:g.37561A>C, NM_153447.4:c.567A>C, NP_703148.4:p.Glu189Asp

Select item 148203030612.

rs1482030306 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:56032701 (GRCh38)
19:56544067 (GRCh37)
Canonical SPDI:: NC_000019.10:56032700:C:A
Gene:: NLRP5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.56032701C>A, NC_000019.9:g.56544067C>A, NG_046924.1:g.50919C>A, NM_153447.4:c.2367C>A

Select item 148202687513.

rs1482026875 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:56026929 (GRCh38)
19:56538295 (GRCh37)
Canonical SPDI:: NC_000019.10:56026928:A:G
Gene:: NLRP5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000006/1 (GnomAD_exomes)
A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000019.10:g.56026929A>G, NC_000019.9:g.56538295A>G, NG_046924.1:g.45147A>G, NM_153447.4:c.696A>G

Select item 148095676914.

rs1480956769 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:56028204 (GRCh38)
19:56539570 (GRCh37)
Canonical SPDI:: NC_000019.10:56028203:T:C
Gene:: NLRP5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.56028204T>C, NC_000019.9:g.56539570T>C, NG_046924.1:g.46422T>C, NM_153447.4:c.1971T>C

Select item 147917015715.

rs1479170157 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:55999747 (GRCh38)
19:56511113 (GRCh37)
Canonical SPDI:: NC_000019.10:55999746:G:A
Gene:: NLRP5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.55999747G>A, NC_000019.9:g.56511113G>A, NG_046924.1:g.17965G>A, NM_153447.4:c.22G>A, NP_703148.4:p.Glu8Lys

Select item 147911784516.

rs1479117845 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:56027632 (GRCh38)
19:56538998 (GRCh37)
Canonical SPDI:: NC_000019.10:56027631:C:T
Gene:: NLRP5 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.56027632C>T, NC_000019.9:g.56538998C>T, NG_046924.1:g.45850C>T, NM_153447.4:c.1399C>T, NP_703148.4:p.Gln467Ter

Select item 147870921817.

rs1478709218 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:56033703 (GRCh38)
19:56545069 (GRCh37)
Canonical SPDI:: NC_000019.10:56033702:C:G
Gene:: NLRP5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.56033703C>G, NC_000019.9:g.56545069C>G, NG_046924.1:g.51921C>G, NM_153447.4:c.2609C>G, NP_703148.4:p.Ser870Cys

Select item 147862149718.

rs1478621497 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:56004040 (GRCh38)
19:56515406 (GRCh37)
Canonical SPDI:: NC_000019.10:56004039:C:T
Gene:: NLRP5 (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_000019.10:g.56004040C>T, NC_000019.9:g.56515406C>T, NG_046924.1:g.22258C>T, NM_153447.4:c.387C>T

Select item 147804310319.

rs1478043103 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:56003787 (GRCh38)
19:56515153 (GRCh37)
Canonical SPDI:: NC_000019.10:56003786:G:A
Gene:: NLRP5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.56003787G>A, NC_000019.9:g.56515153G>A, NG_046924.1:g.22005G>A, NM_153447.4:c.134G>A, NP_703148.4:p.Ser45Asn

Select item 147670746820.

rs1476707468 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:56028450 (GRCh38)
19:56539816 (GRCh37)
Canonical SPDI:: NC_000019.10:56028449:T:C
Gene:: NLRP5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.56028450T>C, NC_000019.9:g.56539816T>C, NG_046924.1:g.46668T>C, NM_153447.4:c.2217T>C

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