SNP Links for Protein (Select 5729850) - SNP

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Links from Protein

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Select item 14880839401.

rs1488083940 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:109586882 (GRCh38)
1:110129504 (GRCh37)
Canonical SPDI:: NC_000001.11:109586881:G:A,NC_000001.11:109586881:G:T
Gene:: GNAI3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000132/2 (ALFA)
T=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.000446/2 (Estonian)
HGVS:: NC_000001.11:g.109586882G>A, NC_000001.11:g.109586882G>T, NC_000001.10:g.110129504G>A, NC_000001.10:g.110129504G>T, NG_032795.1:g.43319G>A, NG_032795.1:g.43319G>T, NM_006496.4:c.874G>A, NM_006496.4:c.874G>T, NM_006496.3:c.874G>A, NM_006496.3:c.874G>T, NP_006487.1:p.Gly292Ser, NP_006487.1:p.Gly292Cys

Select item 14842109962.

rs1484210996 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:109548815 (GRCh38)
1:110091437 (GRCh37)
Canonical SPDI:: NC_000001.11:109548814:A:G
Gene:: GNAI3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
G=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000001.11:g.109548815A>G, NC_000001.10:g.110091437A>G, NG_032758.2:g.13944A>G, NG_032795.1:g.5252A>G, NM_006496.4:c.95A>G, NM_006496.3:c.95A>G, NP_006487.1:p.Lys32Arg

Select item 14826471593.

rs1482647159 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:109574037 (GRCh38)
1:110116659 (GRCh37)
Canonical SPDI:: NC_000001.11:109574036:A:C
Gene:: GNAI3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.109574037A>C, NC_000001.10:g.110116659A>C, NG_032795.1:g.30474A>C, NM_006496.4:c.303A>C, NM_006496.3:c.303A>C

Select item 14752994704.

rs1475299470 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:109592117 (GRCh38)
1:110134739 (GRCh37)
Canonical SPDI:: NC_000001.11:109592116:A:T
Gene:: GNAI3 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.109592117A>T, NC_000001.10:g.110134739A>T, NG_032795.1:g.48554A>T, NM_006496.4:c.949A>T, NM_006496.3:c.949A>T, NP_006487.1:p.Lys317Ter

Select item 14748460825.

rs1474846082 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 1:109592185 (GRCh38)
1:110134808 (GRCh37)
Canonical SPDI:: NC_000001.11:109592185:A:AA
Gene:: GNAI3 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.109592186dup, NC_000001.10:g.110134808dup, NG_032795.1:g.48623dup, NM_006496.4:c.1018dup, NM_006496.3:c.1018dup, NP_006487.1:p.Thr340fs

Select item 14745066406.

rs1474506640 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:109592215 (GRCh38)
1:110134837 (GRCh37)
Canonical SPDI:: NC_000001.11:109592214:G:A
Gene:: GNAI3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.109592215G>A, NC_000001.10:g.110134837G>A, NG_032795.1:g.48652G>A, NM_006496.4:c.1047G>A, NM_006496.3:c.1047G>A

Select item 14737783977.

rs1473778397 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:109548753 (GRCh38)
1:110091375 (GRCh37)
Canonical SPDI:: NC_000001.11:109548752:G:A,NC_000001.11:109548752:G:C
Gene:: GNAI3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.109548753G>A, NC_000001.11:g.109548753G>C, NC_000001.10:g.110091375G>A, NC_000001.10:g.110091375G>C, NG_032758.2:g.13882G>A, NG_032758.2:g.13882G>C, NG_032795.1:g.5190G>A, NG_032795.1:g.5190G>C, NM_006496.4:c.33G>A, NM_006496.4:c.33G>C, NM_006496.3:c.33G>A, NM_006496.3:c.33G>C

Select item 14703195138.

rs1470319513 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:109548757 (GRCh38)
1:110091379 (GRCh37)
Canonical SPDI:: NC_000001.11:109548756:G:C
Gene:: GNAI3 (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)
C=0.000008/2 (GnomAD_exomes)
C=0.000019/5 (TOPMED)
HGVS:: NC_000001.11:g.109548757G>C, NC_000001.10:g.110091379G>C, NG_032758.2:g.13886G>C, NG_032795.1:g.5194G>C, NM_006496.4:c.37G>C, NM_006496.3:c.37G>C, NP_006487.1:p.Val13Leu

Select item 14691484479.

rs1469148447 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:109586824 (GRCh38)
1:110129446 (GRCh37)
Canonical SPDI:: NC_000001.11:109586823:C:A,NC_000001.11:109586823:C:T
Gene:: GNAI3 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.109586824C>A, NC_000001.11:g.109586824C>T, NC_000001.10:g.110129446C>A, NC_000001.10:g.110129446C>T, NG_032795.1:g.43261C>A, NG_032795.1:g.43261C>T, NM_006496.4:c.816C>A, NM_006496.4:c.816C>T, NM_006496.3:c.816C>A, NM_006496.3:c.816C>T, NP_006487.1:p.Asp272Glu

Select item 146596500210.

rs1465965002 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:109592101 (GRCh38)
1:110134723 (GRCh37)
Canonical SPDI:: NC_000001.11:109592100:C:T
Gene:: GNAI3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.109592101C>T, NC_000001.10:g.110134723C>T, NG_032795.1:g.48538C>T, NM_006496.4:c.933C>T, NM_006496.3:c.933C>T

Select item 145812583611.

rs1458125836 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 1:109582489 (GRCh38)
1:110125112 (GRCh37)
Canonical SPDI:: NC_000001.11:109582489:AA:AAA
Gene:: GNAI3 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
HGVS:: NC_000001.11:g.109582491dup, NC_000001.10:g.110125113dup, NG_032795.1:g.38928dup, NM_006496.4:c.516dup, NM_006496.3:c.516dup, NP_006487.1:p.Asp173fs

Select item 145774008512.

rs1457740085 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:109586308 (GRCh38)
1:110128930 (GRCh37)
Canonical SPDI:: NC_000001.11:109586307:G:T
Gene:: GNAI3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000034/9 (TOPMED)
T=0.00005/7 (GnomAD)
HGVS:: NC_000001.11:g.109586308G>T, NC_000001.10:g.110128930G>T, NG_032795.1:g.42745G>T, NM_006496.4:c.683G>T, NM_006496.3:c.683G>T, NP_006487.1:p.Ser228Ile

Select item 145683375113.

rs1456833751 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:109592130 (GRCh38)
1:110134752 (GRCh37)
Canonical SPDI:: NC_000001.11:109592129:C:G
Gene:: GNAI3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.0002/1 (ALFA)
G=0.0002/1 (Estonian)
HGVS:: NC_000001.11:g.109592130C>G, NC_000001.10:g.110134752C>G, NG_032795.1:g.48567C>G, NM_006496.4:c.962C>G, NM_006496.3:c.962C>G, NP_006487.1:p.Thr321Ser

Select item 145486027314.

rs1454860273 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:109548744 (GRCh38)
1:110091366 (GRCh37)
Canonical SPDI:: NC_000001.11:109548743:A:G
Gene:: GNAI3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.109548744A>G, NC_000001.10:g.110091366A>G, NG_032758.2:g.13873A>G, NG_032795.1:g.5181A>G, NM_006496.4:c.24A>G, NM_006496.3:c.24A>G

Select item 145217637415.

rs1452176374 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:109586837 (GRCh38)
1:110129459 (GRCh37)
Canonical SPDI:: NC_000001.11:109586836:A:G
Gene:: GNAI3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.109586837A>G, NC_000001.10:g.110129459A>G, NG_032795.1:g.43274A>G, NM_006496.4:c.829A>G, NM_006496.3:c.829A>G, NP_006487.1:p.Lys277Glu

Select item 144851751516.

rs1448517515 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:109592158 (GRCh38)
1:110134780 (GRCh37)
Canonical SPDI:: NC_000001.11:109592157:G:C
Gene:: GNAI3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (GnomAD)
C=0.000004/1 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.109592158G>C, NC_000001.10:g.110134780G>C, NG_032795.1:g.48595G>C, NM_006496.4:c.990G>C, NM_006496.3:c.990G>C, NP_006487.1:p.Lys330Asn

Select item 144780830917.

rs1447808309 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:109573776 (GRCh38)
1:110116398 (GRCh37)
Canonical SPDI:: NC_000001.11:109573775:T:C
Gene:: GNAI3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.109573776T>C, NC_000001.10:g.110116398T>C, NG_032795.1:g.30213T>C, NM_006496.4:c.158T>C, NM_006496.3:c.158T>C, NP_006487.1:p.Met53Thr

Select item 144652739918.

rs1446527399 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:109586822 (GRCh38)
1:110129444 (GRCh37)
Canonical SPDI:: NC_000001.11:109586821:G:C
Gene:: GNAI3 (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_000001.11:g.109586822G>C, NC_000001.10:g.110129444G>C, NG_032795.1:g.43259G>C, NM_006496.4:c.814G>C, NM_006496.3:c.814G>C, NP_006487.1:p.Asp272His

Select item 144534363519.

rs1445343635 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:109573902 (GRCh38)
1:110116524 (GRCh37)
Canonical SPDI:: NC_000001.11:109573901:T:G
Gene:: GNAI3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.109573902T>G, NC_000001.10:g.110116524T>G, NG_032795.1:g.30339T>G, NM_006496.4:c.168T>G, NM_006496.3:c.168T>G, NP_006487.1:p.Ile56Met

Select item 144393934920.

rs1443939349 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:109582469 (GRCh38)
1:110125091 (GRCh37)
Canonical SPDI:: NC_000001.11:109582468:C:T
Gene:: GNAI3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.109582469C>T, NC_000001.10:g.110125091C>T, NG_032795.1:g.38906C>T, NM_006496.4:c.494C>T, NM_006496.3:c.494C>T, NP_006487.1:p.Ser165Phe

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