SNP Links for Protein (Select 10954343) - SNP

Links from Protein

Items: 1 to 20 of 95

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Select item 14861970941.

rs1486197094 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:105138961 (GRCh38)
11:105009688 (GRCh37)
Canonical SPDI:: NC_000011.10:105138960:T:G
Gene:: CARD18 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000051/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.105138961T>G, NC_000011.9:g.105009688T>G, NM_021571.4:c.125A>C, NM_021571.3:c.125A>C, NP_067546.1:p.Lys42Thr

Select item 14849256202.

rs1484925620 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:105138883 (GRCh38)
11:105009610 (GRCh37)
Canonical SPDI:: NC_000011.10:105138882:G:A,NC_000011.10:105138882:G:T
Gene:: CARD18 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.105138883G>A, NC_000011.10:g.105138883G>T, NC_000011.9:g.105009610G>A, NC_000011.9:g.105009610G>T, NM_021571.4:c.203C>T, NM_021571.4:c.203C>A, NM_021571.3:c.203C>T, NM_021571.3:c.203C>A, NP_067546.1:p.Ser68Phe, NP_067546.1:p.Ser68Tyr

Select item 14758444043.

rs1475844404 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 11:105138892 (GRCh38)
11:105009619 (GRCh37)
Canonical SPDI:: NC_000011.10:105138891:C:A,NC_000011.10:105138891:C:G
Gene:: CARD18 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.105138892C>A, NC_000011.10:g.105138892C>G, NC_000011.9:g.105009619C>A, NC_000011.9:g.105009619C>G, NM_021571.4:c.194G>T, NM_021571.4:c.194G>C, NM_021571.3:c.194G>T, NM_021571.3:c.194G>C, NP_067546.1:p.Gly65Val, NP_067546.1:p.Gly65Ala

Select item 14726716394.

rs1472671639 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:105138819 (GRCh38)
11:105009546 (GRCh37)
Canonical SPDI:: NC_000011.10:105138818:C:G
Gene:: CARD18 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.105138819C>G, NC_000011.9:g.105009546C>G, NM_021571.4:c.267G>C, NM_021571.3:c.267G>C, NP_067546.1:p.Leu89Phe

Select item 14708192965.

rs1470819296 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:105139005 (GRCh38)
11:105009732 (GRCh37)
Canonical SPDI:: NC_000011.10:105139004:A:C
Gene:: CARD18 (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_000011.10:g.105139005A>C, NC_000011.9:g.105009732A>C, NM_021571.4:c.81T>G, NM_021571.3:c.81T>G, NP_067546.1:p.Asp27Glu

Select item 14682041546.

rs1468204154 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:105139722 (GRCh38)
11:105010449 (GRCh37)
Canonical SPDI:: NC_000011.10:105139721:G:A
Gene:: CARD18 (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)
A=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.105139722G>A, NC_000011.9:g.105010449G>A, NM_021571.4:c.5C>T, NM_021571.3:c.5C>T, NP_067546.1:p.Ala2Val

Select item 14420003117.

rs1442000311 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:105138889 (GRCh38)
11:105009616 (GRCh37)
Canonical SPDI:: NC_000011.10:105138888:G:A,NC_000011.10:105138888:G:T
Gene:: CARD18 (Varview)
Functional Consequence:: missense_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_000011.10:g.105138889G>A, NC_000011.10:g.105138889G>T, NC_000011.9:g.105009616G>A, NC_000011.9:g.105009616G>T, NM_021571.4:c.197C>T, NM_021571.4:c.197C>A, NM_021571.3:c.197C>T, NM_021571.3:c.197C>A, NP_067546.1:p.Pro66Leu, NP_067546.1:p.Pro66His

Select item 14387742118.

rs1438774211 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 11:105138930 (GRCh38)
11:105009657 (GRCh37)
Canonical SPDI:: NC_000011.10:105138929:A:
Gene:: CARD18 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.105138930del, NC_000011.9:g.105009657del, NM_021571.4:c.156del, NM_021571.3:c.156del, NP_067546.1:p.Asp52fs

Select item 14322738759.

rs1432273875 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:105138993 (GRCh38)
11:105009720 (GRCh37)
Canonical SPDI:: NC_000011.10:105138992:C:G
Gene:: CARD18 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.105138993C>G, NC_000011.9:g.105009720C>G, NM_021571.4:c.93G>C, NM_021571.3:c.93G>C, NP_067546.1:p.Glu31Asp

Select item 141806935010.

rs1418069350 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:105139029 (GRCh38)
11:105009756 (GRCh37)
Canonical SPDI:: NC_000011.10:105139028:T:C
Gene:: CARD18 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.105139029T>C, NC_000011.9:g.105009756T>C, NM_021571.4:c.57A>G, NM_021571.3:c.57A>G

Select item 140581712011.

rs1405817120 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:105139001 (GRCh38)
11:105009728 (GRCh37)
Canonical SPDI:: NC_000011.10:105139000:G:T
Gene:: CARD18 (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_000011.10:g.105139001G>T, NC_000011.9:g.105009728G>T, NM_021571.4:c.85C>A, NM_021571.3:c.85C>A, NP_067546.1:p.Leu29Ile

Select item 139829193212.

rs1398291932 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:105138902 (GRCh38)
11:105009629 (GRCh37)
Canonical SPDI:: NC_000011.10:105138901:T:C
Gene:: CARD18 (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_000011.10:g.105138902T>C, NC_000011.9:g.105009629T>C, NM_021571.4:c.184A>G, NM_021571.3:c.184A>G, NP_067546.1:p.Thr62Ala

Select item 139179722413.

rs1391797224 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:105139018 (GRCh38)
11:105009745 (GRCh37)
Canonical SPDI:: NC_000011.10:105139017:T:A
Gene:: CARD18 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.105139018T>A, NC_000011.9:g.105009745T>A, NM_021571.4:c.68A>T, NM_021571.3:c.68A>T, NP_067546.1:p.Asn23Ile

Select item 138210475914.

rs1382104759 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:105138839 (GRCh38)
11:105009566 (GRCh37)
Canonical SPDI:: NC_000011.10:105138838:G:A
Gene:: CARD18 (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=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.105138839G>A, NC_000011.9:g.105009566G>A, NM_021571.4:c.247C>T, NM_021571.3:c.247C>T, NP_067546.1:p.Leu83Phe

Select item 135623791515.

rs1356237915 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:105139073 (GRCh38)
11:105009800 (GRCh37)
Canonical SPDI:: NC_000011.10:105139072:G:T
Gene:: CARD18 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000011.10:g.105139073G>T, NC_000011.9:g.105009800G>T, NM_021571.4:c.13C>A, NM_021571.3:c.13C>A, NP_067546.1:p.Leu5Ile

Select item 135449124416.

rs1354491244 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:105138880 (GRCh38)
11:105009607 (GRCh37)
Canonical SPDI:: NC_000011.10:105138879:C:G
Gene:: CARD18 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000056/2 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.105138880C>G, NC_000011.9:g.105009607C>G, NM_021571.4:c.206G>C, NM_021571.3:c.206G>C, NP_067546.1:p.Cys69Ser

Select item 135281199917.

rs1352811999 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:105139056 (GRCh38)
11:105009783 (GRCh37)
Canonical SPDI:: NC_000011.10:105139055:T:A
Gene:: CARD18 (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_000011.10:g.105139056T>A, NC_000011.9:g.105009783T>A, NM_021571.4:c.30A>T, NM_021571.3:c.30A>T, NP_067546.1:p.Arg10Ser

Select item 134877097418.

rs1348770974 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:105139039 (GRCh38)
11:105009766 (GRCh37)
Canonical SPDI:: NC_000011.10:105139038:G:A
Gene:: CARD18 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000011.10:g.105139039G>A, NC_000011.9:g.105009766G>A, NM_021571.4:c.47C>T, NM_021571.3:c.47C>T, NP_067546.1:p.Ser16Leu

Select item 134041187919.

rs1340411879 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:105138845 (GRCh38)
11:105009572 (GRCh37)
Canonical SPDI:: NC_000011.10:105138844:G:A
Gene:: CARD18 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000011.10:g.105138845G>A, NC_000011.9:g.105009572G>A, NM_021571.4:c.241C>T, NM_021571.3:c.241C>T, NP_067546.1:p.Pro81Ser

Select item 133972904120.

rs1339729041 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:105138860 (GRCh38)
11:105009587 (GRCh37)
Canonical SPDI:: NC_000011.10:105138859:G:A
Gene:: CARD18 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.105138860G>A, NC_000011.9:g.105009587G>A, NM_021571.4:c.226C>T, NM_021571.3:c.226C>T, NP_067546.1:p.Leu76Phe

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