SNP Links for Protein (Select 4757772) - SNP

Links from Protein

Items: 1 to 20 of 241

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Select item 14900582261.

rs1490058226 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:68047185 (GRCh38)
1:68512868 (GRCh37)
Canonical SPDI:: NC_000001.11:68047184:T:C
Gene:: DIRAS3 (Varview), GNG12-AS1 (Varview)
Functional Consequence:: intron_variant,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.68047185T>C, NC_000001.10:g.68512868T>C, NG_011753.1:g.8593A>G, NM_004675.5:c.113A>G, NM_004675.4:c.113A>G, NM_004675.3:c.113A>G, NM_004675.2:c.113A>G, NP_004666.1:p.Tyr38Cys

Select item 14872389382.

rs1487238938 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAC>- [Show Flanks]
Chromosome:: 1:68047154 (GRCh38)
1:68512837 (GRCh37)
Canonical SPDI:: NC_000001.11:68047152:CCAC:C
Gene:: DIRAS3 (Varview), GNG12-AS1 (Varview)
Functional Consequence:: inframe_deletion,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.68047154_68047156del, NC_000001.10:g.68512837_68512839del, NG_011753.1:g.8623_8625del, NM_004675.5:c.143_145del, NM_004675.4:c.143_145del, NM_004675.3:c.143_145del, NM_004675.2:c.143_145del, NP_004666.1:p.Val48del

Select item 14868288183.

rs1486828818 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:68046786 (GRCh38)
1:68512469 (GRCh37)
Canonical SPDI:: NC_000001.11:68046785:A:G
Gene:: DIRAS3 (Varview), GNG12-AS1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.68046786A>G, NC_000001.10:g.68512469A>G, NG_011753.1:g.8992T>C, NM_004675.5:c.512T>C, NM_004675.4:c.512T>C, NM_004675.3:c.512T>C, NM_004675.2:c.512T>C, NP_004666.1:p.Met171Thr

Select item 14850679934.

rs1485067993 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:68047050 (GRCh38)
1:68512733 (GRCh37)
Canonical SPDI:: NC_000001.11:68047049:C:T
Gene:: DIRAS3 (Varview), GNG12-AS1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.68047050C>T, NC_000001.10:g.68512733C>T, NG_011753.1:g.8728G>A, NM_004675.5:c.248G>A, NM_004675.4:c.248G>A, NM_004675.3:c.248G>A, NM_004675.2:c.248G>A, NP_004666.1:p.Gly83Asp

Select item 14842643025.

rs1484264302 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:68047159 (GRCh38)
1:68512842 (GRCh37)
Canonical SPDI:: NC_000001.11:68047158:C:T
Gene:: DIRAS3 (Varview), GNG12-AS1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.68047159C>T, NC_000001.10:g.68512842C>T, NG_011753.1:g.8619G>A, NM_004675.5:c.139G>A, NM_004675.4:c.139G>A, NM_004675.3:c.139G>A, NM_004675.2:c.139G>A, NP_004666.1:p.Gly47Ser

Select item 14793082456.

rs1479308245 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:68046698 (GRCh38)
1:68512381 (GRCh37)
Canonical SPDI:: NC_000001.11:68046697:T:A
Gene:: DIRAS3 (Varview), GNG12-AS1 (Varview)
Functional Consequence:: intron_variant,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)
HGVS:: NC_000001.11:g.68046698T>A, NC_000001.10:g.68512381T>A, NG_011753.1:g.9080A>T, NM_004675.5:c.600A>T, NM_004675.4:c.600A>T, NM_004675.3:c.600A>T, NM_004675.2:c.600A>T, NP_004666.1:p.Lys200Asn

Select item 14792965237.

rs1479296523 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:68047173 (GRCh38)
1:68512856 (GRCh37)
Canonical SPDI:: NC_000001.11:68047172:A:G
Gene:: DIRAS3 (Varview), GNG12-AS1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.68047173A>G, NC_000001.10:g.68512856A>G, NG_011753.1:g.8605T>C, NM_004675.5:c.125T>C, NM_004675.4:c.125T>C, NM_004675.3:c.125T>C, NM_004675.2:c.125T>C, NP_004666.1:p.Val42Ala

Select item 14772138138.

rs1477213813 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:68046761 (GRCh38)
1:68512444 (GRCh37)
Canonical SPDI:: NC_000001.11:68046760:C:T
Gene:: DIRAS3 (Varview), GNG12-AS1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0.000066/2 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.68046761C>T, NC_000001.10:g.68512444C>T, NG_011753.1:g.9017G>A, NM_004675.5:c.537G>A, NM_004675.4:c.537G>A, NM_004675.3:c.537G>A, NM_004675.2:c.537G>A

Select item 14732036169.

rs1473203616 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:68047250 (GRCh38)
1:68512933 (GRCh37)
Canonical SPDI:: NC_000001.11:68047249:C:G
Gene:: DIRAS3 (Varview), GNG12-AS1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.68047250C>G, NC_000001.10:g.68512933C>G, NG_011753.1:g.8528G>C, NM_004675.5:c.48G>C, NM_004675.4:c.48G>C, NM_004675.3:c.48G>C, NM_004675.2:c.48G>C

Select item 147208956710.

rs1472089567 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:68047156 (GRCh38)
1:68512839 (GRCh37)
Canonical SPDI:: NC_000001.11:68047155:C:T
Gene:: DIRAS3 (Varview), GNG12-AS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.68047156C>T, NC_000001.10:g.68512839C>T, NG_011753.1:g.8622G>A, NM_004675.5:c.142G>A, NM_004675.4:c.142G>A, NM_004675.3:c.142G>A, NM_004675.2:c.142G>A, NP_004666.1:p.Val48Met

Select item 147158055311.

rs1471580553 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 1:68046777 (GRCh38)
1:68512460 (GRCh37)
Canonical SPDI:: NC_000001.11:68046776:T:C,NC_000001.11:68046776:T:G
Gene:: DIRAS3 (Varview), GNG12-AS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.68046777T>C, NC_000001.11:g.68046777T>G, NC_000001.10:g.68512460T>C, NC_000001.10:g.68512460T>G, NG_011753.1:g.9001A>G, NG_011753.1:g.9001A>C, NM_004675.5:c.521A>G, NM_004675.5:c.521A>C, NM_004675.4:c.521A>G, NM_004675.4:c.521A>C, NM_004675.3:c.521A>G, NM_004675.3:c.521A>C, NM_004675.2:c.521A>G, NM_004675.2:c.521A>C, NP_004666.1:p.Asn174Ser, NP_004666.1:p.Asn174Thr

Select item 146481559712.

rs1464815597 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:68046608 (GRCh38)
1:68512291 (GRCh37)
Canonical SPDI:: NC_000001.11:68046607:T:G
Gene:: DIRAS3 (Varview), GNG12-AS1 (Varview)
Functional Consequence:: stop_lost,terminator_codon_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.68046608T>G, NC_000001.10:g.68512291T>G, NG_011753.1:g.9170A>C, NM_004675.5:c.690A>C, NM_004675.4:c.690A>C, NM_004675.3:c.690A>C, NM_004675.2:c.690A>C, NP_004666.1:p.Ter230Cys

Select item 146430396813.

rs1464303968 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCGGGCTATAACGTGGC>- [Show Flanks]
Chromosome:: 1:68046973 (GRCh38)
1:68512656 (GRCh37)
Canonical SPDI:: NC_000001.11:68046966:CGTGGCCCCGGGCTATAACGTGGC:CGTGGC
Gene:: DIRAS3 (Varview), GNG12-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGTGGC=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.68046973_68046990del, NC_000001.10:g.68512656_68512673del, NG_011753.1:g.8794_8811del, NM_004675.5:c.314_331del, NM_004675.4:c.314_331del, NM_004675.3:c.314_331del, NM_004675.2:c.314_331del, NP_004666.1:p.Val105_His110del

Select item 146000186114.

rs1460001861 [Homo sapiens]

Variant type:: DEL
Alleles:: GCAGGGCGGGCAG>- [Show Flanks]
Chromosome:: 1:68047228 (GRCh38)
1:68512911 (GRCh37)
Canonical SPDI:: NC_000001.11:68047227:GCAGGGCGGGCAG:
Gene:: DIRAS3 (Varview), GNG12-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.00016/2 (GoESP)
HGVS:: NC_000001.11:g.68047228_68047240del, NC_000001.10:g.68512911_68512923del, NG_011753.1:g.8538_8550del, NM_004675.5:c.58_70del, NM_004675.4:c.58_70del, NM_004675.3:c.58_70del, NM_004675.2:c.58_70del, NP_004666.1:p.Pro21fs

Select item 144907860815.

rs1449078608 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:68046737 (GRCh38)
1:68512420 (GRCh37)
Canonical SPDI:: NC_000001.11:68046736:A:G
Gene:: DIRAS3 (Varview), GNG12-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.68046737A>G, NC_000001.10:g.68512420A>G, NG_011753.1:g.9041T>C, NM_004675.5:c.561T>C, NM_004675.4:c.561T>C, NM_004675.3:c.561T>C, NM_004675.2:c.561T>C

Select item 144131795116.

rs1441317951 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:68046842 (GRCh38)
1:68512525 (GRCh37)
Canonical SPDI:: NC_000001.11:68046841:A:G
Gene:: DIRAS3 (Varview), GNG12-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.68046842A>G, NC_000001.10:g.68512525A>G, NG_011753.1:g.8936T>C, NM_004675.5:c.456T>C, NM_004675.4:c.456T>C, NM_004675.3:c.456T>C, NM_004675.2:c.456T>C

Select item 144112552517.

rs1441125525 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:68047252 (GRCh38)
1:68512935 (GRCh37)
Canonical SPDI:: NC_000001.11:68047251:G:A
Gene:: DIRAS3 (Varview), GNG12-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.68047252G>A, NC_000001.10:g.68512935G>A, NG_011753.1:g.8526C>T, NM_004675.5:c.46C>T, NM_004675.4:c.46C>T, NM_004675.3:c.46C>T, NM_004675.2:c.46C>T, NP_004666.1:p.Arg16Trp

Select item 144017103918.

rs1440171039 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:68046828 (GRCh38)
1:68512511 (GRCh37)
Canonical SPDI:: NC_000001.11:68046827:G:A
Gene:: DIRAS3 (Varview), GNG12-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.68046828G>A, NC_000001.10:g.68512511G>A, NG_011753.1:g.8950C>T, NM_004675.5:c.470C>T, NM_004675.4:c.470C>T, NM_004675.3:c.470C>T, NM_004675.2:c.470C>T, NP_004666.1:p.Thr157Ile

Select item 143010232919.

rs1430102329 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:68046611 (GRCh38)
1:68512294 (GRCh37)
Canonical SPDI:: NC_000001.11:68046610:C:G,NC_000001.11:68046610:C:T
Gene:: DIRAS3 (Varview), GNG12-AS1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.68046611C>G, NC_000001.11:g.68046611C>T, NC_000001.10:g.68512294C>G, NC_000001.10:g.68512294C>T, NG_011753.1:g.9167G>C, NG_011753.1:g.9167G>A, NM_004675.5:c.687G>C, NM_004675.5:c.687G>A, NM_004675.4:c.687G>C, NM_004675.4:c.687G>A, NM_004675.3:c.687G>C, NM_004675.3:c.687G>A, NM_004675.2:c.687G>C, NM_004675.2:c.687G>A, NP_004666.1:p.Met229Ile, NP_004666.1:p.Met229Ile

Select item 142778408720.

rs1427784087 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:68047236 (GRCh38)
1:68512919 (GRCh37)
Canonical SPDI:: NC_000001.11:68047235:G:T
Gene:: DIRAS3 (Varview), GNG12-AS1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.68047236G>T, NC_000001.10:g.68512919G>T, NG_011753.1:g.8542C>A, NM_004675.5:c.62C>A, NM_004675.4:c.62C>A, NM_004675.3:c.62C>A, NM_004675.2:c.62C>A, NP_004666.1:p.Pro21His

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