SNP Links for Protein (Select 335892841) - SNP

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Links from Protein

Items: 1 to 20 of 100

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Select item 14901727691.

rs1490172769 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 1:23013987 (GRCh38)
1:23340480 (GRCh37)
Canonical SPDI:: NC_000001.11:23013986:T:A,NC_000001.11:23013986:T:C
Gene:: TEX46 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000066/1 (ALFA)
C=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
C=0.002729/5 (Korea1K)
HGVS:: NC_000001.11:g.23013987T>A, NC_000001.11:g.23013987T>C, NC_000001.10:g.23340480T>A, NC_000001.10:g.23340480T>C, NM_001242521.2:c.61A>T, NM_001242521.2:c.61A>G, NM_001242521.1:c.61A>T, NM_001242521.1:c.61A>G, NP_001229450.1:p.Met21Leu, NP_001229450.1:p.Met21Val

Select item 14877812192.

rs1487781219 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:23011005 (GRCh38)
1:23337498 (GRCh37)
Canonical SPDI:: NC_000001.11:23011004:G:A
Gene:: TEX46 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000034/9 (TOPMED)
A=0.000035/1 (TOMMO)
A=0.000037/5 (GnomAD_exomes)
HGVS:: NC_000001.11:g.23011005G>A, NC_000001.10:g.23337498G>A, NG_081980.1:g.745G>A, NM_001242521.2:c.262C>T, NM_001242521.1:c.262C>T, NP_001229450.1:p.Arg88Trp

Select item 14866455413.

rs1486645541 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:23013927 (GRCh38)
1:23340420 (GRCh37)
Canonical SPDI:: NC_000001.11:23013926:A:C
Gene:: TEX46 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.23013927A>C, NC_000001.10:g.23340420A>C, NM_001242521.2:c.121T>G, NM_001242521.1:c.121T>G, NP_001229450.1:p.Leu41Val

Select item 14754752134.

rs1475475213 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:23013947 (GRCh38)
1:23340440 (GRCh37)
Canonical SPDI:: NC_000001.11:23013946:A:G
Gene:: TEX46 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.23013947A>G, NC_000001.10:g.23340440A>G, NM_001242521.2:c.101T>C, NM_001242521.1:c.101T>C, NP_001229450.1:p.Leu34Pro

Select item 14599611125.

rs1459961112 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:23011093 (GRCh38)
1:23337586 (GRCh37)
Canonical SPDI:: NC_000001.11:23011092:G:T
Gene:: TEX46 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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.23011093G>T, NC_000001.10:g.23337586G>T, NG_081980.1:g.833G>T, NM_001242521.2:c.174C>A, NM_001242521.1:c.174C>A

Select item 14562977426.

rs1456297742 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:23011035 (GRCh38)
1:23337528 (GRCh37)
Canonical SPDI:: NC_000001.11:23011034:T:C
Gene:: TEX46 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.23011035T>C, NC_000001.10:g.23337528T>C, NG_081980.1:g.775T>C, NM_001242521.2:c.232A>G, NM_001242521.1:c.232A>G, NP_001229450.1:p.Ile78Val

Select item 14440947347.

rs1444094734 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 1:23010926 (GRCh38)
1:23337419 (GRCh37)
Canonical SPDI:: NC_000001.11:23010925:T:C,NC_000001.11:23010925:T:G
Gene:: TEX46 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.23010926T>C, NC_000001.11:g.23010926T>G, NC_000001.10:g.23337419T>C, NC_000001.10:g.23337419T>G, NG_081980.1:g.666T>C, NG_081980.1:g.666T>G, NM_001242521.2:c.341A>G, NM_001242521.2:c.341A>C, NM_001242521.1:c.341A>G, NM_001242521.1:c.341A>C, NP_001229450.1:p.Asp114Gly, NP_001229450.1:p.Asp114Ala

Select item 14423892658.

rs1442389265 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:23011067 (GRCh38)
1:23337560 (GRCh37)
Canonical SPDI:: NC_000001.11:23011066:A:T
Gene:: TEX46 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000037/5 (GnomAD_exomes)
T=0.000049/13 (TOPMED)
T=0.000342/1 (KOREAN)
T=0.003079/52 (TOMMO)
HGVS:: NC_000001.11:g.23011067A>T, NC_000001.10:g.23337560A>T, NG_081980.1:g.807A>T, NM_001242521.2:c.200T>A, NM_001242521.1:c.200T>A, NP_001229450.1:p.Met67Lys

Select item 14388855019.

rs1438885501 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:23011031 (GRCh38)
1:23337524 (GRCh37)
Canonical SPDI:: NC_000001.11:23011030:A:G
Gene:: TEX46 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
G=0.000156/1 (1000Genomes)
HGVS:: NC_000001.11:g.23011031A>G, NC_000001.10:g.23337524A>G, NG_081980.1:g.771A>G, NM_001242521.2:c.236T>C, NM_001242521.1:c.236T>C, NP_001229450.1:p.Ile79Thr

Select item 143602421210.

rs1436024212 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:23013901 (GRCh38)
1:23340394 (GRCh37)
Canonical SPDI:: NC_000001.11:23013900:G:A
Gene:: TEX46 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.23013901G>A, NC_000001.10:g.23340394G>A, NM_001242521.2:c.147C>T, NM_001242521.1:c.147C>T

Select item 143519244911.

rs1435192449 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:23011011 (GRCh38)
1:23337504 (GRCh37)
Canonical SPDI:: NC_000001.11:23011010:G:A
Gene:: TEX46 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.23011011G>A, NC_000001.10:g.23337504G>A, NG_081980.1:g.751G>A, NM_001242521.2:c.256C>T, NM_001242521.1:c.256C>T, NP_001229450.1:p.His86Tyr

Select item 143304423712.

rs1433044237 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:23014037 (GRCh38)
1:23340530 (GRCh37)
Canonical SPDI:: NC_000001.11:23014036:T:C
Gene:: TEX46 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/2 (GnomAD_exomes)
C=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.23014037T>C, NC_000001.10:g.23340530T>C, NM_001242521.2:c.11A>G, NM_001242521.1:c.11A>G, NP_001229450.1:p.His4Arg

Select item 143220220813.

rs1432202208 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:23013974 (GRCh38)
1:23340467 (GRCh37)
Canonical SPDI:: NC_000001.11:23013973:G:A
Gene:: TEX46 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.23013974G>A, NC_000001.10:g.23340467G>A, NM_001242521.2:c.74C>T, NM_001242521.1:c.74C>T, NP_001229450.1:p.Pro25Leu

Select item 142155256414.

rs1421552564 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:23011002 (GRCh38)
1:23337495 (GRCh37)
Canonical SPDI:: NC_000001.11:23011001:A:T
Gene:: TEX46 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000034/9 (TOPMED)
HGVS:: NC_000001.11:g.23011002A>T, NC_000001.10:g.23337495A>T, NG_081980.1:g.742A>T, NM_001242521.2:c.265T>A, NM_001242521.1:c.265T>A, NP_001229450.1:p.Ser89Thr

Select item 141880412215.

rs1418804122 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:23010952 (GRCh38)
1:23337445 (GRCh37)
Canonical SPDI:: NC_000001.11:23010951:A:T
Gene:: TEX46 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.23010952A>T, NC_000001.10:g.23337445A>T, NG_081980.1:g.692A>T, NM_001242521.2:c.315T>A, NM_001242521.1:c.315T>A, NP_001229450.1:p.His105Gln

Select item 141526509016.

rs1415265090 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:23011001 (GRCh38)
1:23337494 (GRCh37)
Canonical SPDI:: NC_000001.11:23011000:G:C
Gene:: TEX46 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.23011001G>C, NC_000001.10:g.23337494G>C, NG_081980.1:g.741G>C, NM_001242521.2:c.266C>G, NM_001242521.1:c.266C>G, NP_001229450.1:p.Ser89Ter

Select item 140395757617.

rs1403957576 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:23010983 (GRCh38)
1:23337476 (GRCh37)
Canonical SPDI:: NC_000001.11:23010982:A:G
Gene:: TEX46 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.23010983A>G, NC_000001.10:g.23337476A>G, NG_081980.1:g.723A>G, NM_001242521.2:c.284T>C, NM_001242521.1:c.284T>C, NP_001229450.1:p.Phe95Ser

Select item 139868882118.

rs1398688821 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:23013891 (GRCh38)
1:23340384 (GRCh37)
Canonical SPDI:: NC_000001.11:23013890:G:A
Gene:: TEX46 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.23013891G>A, NC_000001.10:g.23340384G>A, NM_001242521.2:c.157C>T, NM_001242521.1:c.157C>T, NP_001229450.1:p.Pro53Ser

Select item 138137770719.

rs1381377707 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:23011038 (GRCh38)
1:23337531 (GRCh37)
Canonical SPDI:: NC_000001.11:23011037:A:C
Gene:: TEX46 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.23011038A>C, NC_000001.10:g.23337531A>C, NG_081980.1:g.778A>C, NM_001242521.2:c.229T>G, NM_001242521.1:c.229T>G, NP_001229450.1:p.Phe77Val

Select item 137848068220.

rs1378480682 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:23010917 (GRCh38)
1:23337410 (GRCh37)
Canonical SPDI:: NC_000001.11:23010916:G:A,NC_000001.11:23010916:G:C
Gene:: TEX46 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.23010917G>A, NC_000001.11:g.23010917G>C, NC_000001.10:g.23337410G>A, NC_000001.10:g.23337410G>C, NG_081980.1:g.657G>A, NG_081980.1:g.657G>C, NM_001242521.2:c.350C>T, NM_001242521.2:c.350C>G, NM_001242521.1:c.350C>T, NM_001242521.1:c.350C>G, NP_001229450.1:p.Ser117Leu, NP_001229450.1:p.Ser117Trp

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