SNP Links for Protein (Select 117320537) - SNP

Links from Protein

Items: 1 to 20 of 1000

<< First< Prev

Page of 50

Next >Last >>

Select item 14906082951.

rs1490608295 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 16:81938829 (GRCh38)
16:81972434 (GRCh37)
Canonical SPDI:: NC_000016.10:81938828:T:A,NC_000016.10:81938828:T:C
Gene:: PLCG2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.81938829T>A, NC_000016.10:g.81938829T>C, NC_000016.9:g.81972434T>A, NC_000016.9:g.81972434T>C, NG_032019.2:g.204733T>A, NG_032019.2:g.204733T>C, NM_002661.5:c.3227T>A, NM_002661.5:c.3227T>C, NM_002661.4:c.3227T>A, NM_002661.4:c.3227T>C, NM_002661.3:c.3227T>A, NM_002661.3:c.3227T>C, NP_002652.2:p.Leu1076His, NP_002652.2:p.Leu1076Pro

Select item 14904705592.

rs1490470559 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 16:81900649 (GRCh38)
16:81934254 (GRCh37)
Canonical SPDI:: NC_000016.10:81900648:G:A,NC_000016.10:81900648:G:C,NC_000016.10:81900648:G:T
Gene:: PLCG2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.00055/1 (Korea1K)
HGVS:: NC_000016.10:g.81900649G>A, NC_000016.10:g.81900649G>C, NC_000016.10:g.81900649G>T, NC_000016.9:g.81934254G>A, NC_000016.9:g.81934254G>C, NC_000016.9:g.81934254G>T, NG_032019.2:g.166553G>A, NG_032019.2:g.166553G>C, NG_032019.2:g.166553G>T, NM_002661.5:c.1231G>A, NM_002661.5:c.1231G>C, NM_002661.5:c.1231G>T, NM_002661.4:c.1231G>A, NM_002661.4:c.1231G>C, NM_002661.4:c.1231G>T, NM_002661.3:c.1231G>A, NM_002661.3:c.1231G>C, NM_002661.3:c.1231G>T, NP_002652.2:p.Val411Met, NP_002652.2:p.Val411Leu, NP_002652.2:p.Val411Leu

Select item 14897889093.

rs1489788909 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:81937852 (GRCh38)
16:81971457 (GRCh37)
Canonical SPDI:: NC_000016.10:81937851:C:T
Gene:: PLCG2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.81937852C>T, NC_000016.9:g.81971457C>T, NG_032019.2:g.203756C>T, NM_002661.5:c.3147C>T, NM_002661.4:c.3147C>T, NM_002661.3:c.3147C>T

Select item 14893894014.

rs1489389401 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:81870888 (GRCh38)
16:81904493 (GRCh37)
Canonical SPDI:: NC_000016.10:81870887:C:G
Gene:: PLCG2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000016.10:g.81870888C>G, NC_000016.9:g.81904493C>G, NG_032019.2:g.136792C>G, NM_002661.5:c.601C>G, NM_002661.4:c.601C>G, NM_002661.3:c.601C>G, NP_002652.2:p.Gln201Glu

Select item 14883037215.

rs1488303721 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 16:81891486 (GRCh38)
16:81925091 (GRCh37)
Canonical SPDI:: NC_000016.10:81891485:G:C,NC_000016.10:81891485:G:T
Gene:: PLCG2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.81891486G>C, NC_000016.10:g.81891486G>T, NC_000016.9:g.81925091G>C, NC_000016.9:g.81925091G>T, NG_032019.2:g.157390G>C, NG_032019.2:g.157390G>T, NM_002661.5:c.882G>C, NM_002661.5:c.882G>T, NM_002661.4:c.882G>C, NM_002661.4:c.882G>T, NM_002661.3:c.882G>C, NM_002661.3:c.882G>T

Select item 14875679746.

rs1487567974 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:81923514 (GRCh38)
16:81957119 (GRCh37)
Canonical SPDI:: NC_000016.10:81923513:C:A,NC_000016.10:81923513:C:T
Gene:: PLCG2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.81923514C>A, NC_000016.10:g.81923514C>T, NC_000016.9:g.81957119C>A, NC_000016.9:g.81957119C>T, NG_032019.2:g.189418C>A, NG_032019.2:g.189418C>T, NM_002661.5:c.2337C>A, NM_002661.5:c.2337C>T, NM_002661.4:c.2337C>A, NM_002661.4:c.2337C>T, NM_002661.3:c.2337C>A, NM_002661.3:c.2337C>T, NP_002652.2:p.Asp779Glu

Select item 14873536137.

rs1487353613 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:81923585 (GRCh38)
16:81957190 (GRCh37)
Canonical SPDI:: NC_000016.10:81923584:C:T
Gene:: PLCG2 (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=0.000008/2 (GnomAD_exomes)
T=0.000106/2 (TOMMO)
T=0.000342/1 (KOREAN)
HGVS:: NC_000016.10:g.81923585C>T, NC_000016.9:g.81957190C>T, NG_032019.2:g.189489C>T, NM_002661.5:c.2408C>T, NM_002661.4:c.2408C>T, NM_002661.3:c.2408C>T, NP_002652.2:p.Pro803Leu

Select item 14867963618.

rs1486796361 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:81907720 (GRCh38)
16:81941325 (GRCh37)
Canonical SPDI:: NC_000016.10:81907719:C:A
Gene:: PLCG2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.81907720C>A, NC_000016.9:g.81941325C>A, NG_032019.2:g.173624C>A, NM_002661.5:c.1503C>A, NM_002661.4:c.1503C>A, NM_002661.3:c.1503C>A

Select item 14865596629.

rs1486559662 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:81786043 (GRCh38)
16:81819648 (GRCh37)
Canonical SPDI:: NC_000016.10:81786042:C:T
Gene:: PLCG2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.81786043C>T, NC_000016.9:g.81819648C>T, NG_032019.2:g.51947C>T, NM_002661.5:c.54C>T, NM_002661.4:c.54C>T, NM_002661.3:c.54C>T

Select item 148612147910.

rs1486121479 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:81858327 (GRCh38)
16:81891932 (GRCh37)
Canonical SPDI:: NC_000016.10:81858326:G:T
Gene:: PLCG2 (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=0.000012/3 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.81858327G>T, NC_000016.9:g.81891932G>T, NG_032019.2:g.124231G>T, NM_002661.5:c.402G>T, NM_002661.4:c.402G>T, NM_002661.3:c.402G>T, NP_002652.2:p.Met134Ile

Select item 148549239111.

rs1485492391 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:81891543 (GRCh38)
16:81925148 (GRCh37)
Canonical SPDI:: NC_000016.10:81891542:C:G
Gene:: PLCG2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.81891543C>G, NC_000016.9:g.81925148C>G, NG_032019.2:g.157447C>G, NM_002661.5:c.939C>G, NM_002661.4:c.939C>G, NM_002661.3:c.939C>G, NP_002652.2:p.Asp313Glu

Select item 148273547312.

rs1482735473 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 16:81900667 (GRCh38)
16:81934272 (GRCh37)
Canonical SPDI:: NC_000016.10:81900666:A:T
Gene:: PLCG2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.81900667A>T, NC_000016.9:g.81934272A>T, NG_032019.2:g.166571A>T, NM_002661.5:c.1249A>T, NM_002661.4:c.1249A>T, NM_002661.3:c.1249A>T, NP_002652.2:p.Met417Leu

Select item 148222586113.

rs1482225861 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:81883280 (GRCh38)
16:81916885 (GRCh37)
Canonical SPDI:: NC_000016.10:81883279:G:A
Gene:: PLCG2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.81883280G>A, NC_000016.9:g.81916885G>A, NG_032019.2:g.149184G>A, NM_002661.5:c.704G>A, NM_002661.4:c.704G>A, NM_002661.3:c.704G>A, NP_002652.2:p.Arg235Lys

Select item 148150858114.

rs1481508581 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:81939976 (GRCh38)
16:81973581 (GRCh37)
Canonical SPDI:: NC_000016.10:81939975:G:A
Gene:: PLCG2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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=0.000071/1 (TOMMO)
HGVS:: NC_000016.10:g.81939976G>A, NC_000016.9:g.81973581G>A, NG_032019.2:g.205880G>A, NM_002661.5:c.3398G>A, NM_002661.4:c.3398G>A, NM_002661.3:c.3398G>A, NP_002652.2:p.Arg1133His

Select item 148132524815.

rs1481325248 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:81937846 (GRCh38)
16:81971451 (GRCh37)
Canonical SPDI:: NC_000016.10:81937845:A:G
Gene:: PLCG2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000016.10:g.81937846A>G, NC_000016.9:g.81971451A>G, NG_032019.2:g.203750A>G, NM_002661.5:c.3141A>G, NM_002661.4:c.3141A>G, NM_002661.3:c.3141A>G

Select item 148093421216.

rs1480934212 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:81956869 (GRCh38)
16:81990474 (GRCh37)
Canonical SPDI:: NC_000016.10:81956868:T:C
Gene:: PLCG2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000016.10:g.81956869T>C, NC_000016.9:g.81990474T>C, NG_032019.2:g.222773T>C, NM_002661.5:c.3745T>C, NM_002661.4:c.3745T>C, NM_002661.3:c.3745T>C, NP_002652.2:p.Cys1249Arg

Select item 148070672317.

rs1480706723 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:81869270 (GRCh38)
16:81902875 (GRCh37)
Canonical SPDI:: NC_000016.10:81869269:G:A
Gene:: PLCG2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000016.10:g.81869270G>A, NC_000016.9:g.81902875G>A, NG_032019.2:g.135174G>A, NM_002661.5:c.536G>A, NM_002661.4:c.536G>A, NM_002661.3:c.536G>A, NP_002652.2:p.Ser179Asn

Select item 147757661918.

rs1477576619 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:81919569 (GRCh38)
16:81953174 (GRCh37)
Canonical SPDI:: NC_000016.10:81919568:G:A
Gene:: PLCG2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.81919569G>A, NC_000016.9:g.81953174G>A, NG_032019.2:g.185473G>A, NM_002661.5:c.2140G>A, NM_002661.4:c.2140G>A, NM_002661.3:c.2140G>A, NP_002652.2:p.Val714Met

Select item 147676515419.

rs1476765154 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:81927113 (GRCh38)
16:81960718 (GRCh37)
Canonical SPDI:: NC_000016.10:81927112:C:A
Gene:: PLCG2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.81927113C>A, NC_000016.9:g.81960718C>A, NG_032019.2:g.193017C>A, NM_002661.5:c.2449C>A, NM_002661.4:c.2449C>A, NM_002661.3:c.2449C>A, NP_002652.2:p.Gln817Lys

Select item 147649625720.

rs1476496257 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:81919608 (GRCh38)
16:81953213 (GRCh37)
Canonical SPDI:: NC_000016.10:81919607:C:A,NC_000016.10:81919607:C:T
Gene:: PLCG2 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,synonymous_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000094/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.81919608C>A, NC_000016.10:g.81919608C>T, NC_000016.9:g.81953213C>A, NC_000016.9:g.81953213C>T, NG_032019.2:g.185512C>A, NG_032019.2:g.185512C>T, NM_002661.5:c.2179C>A, NM_002661.5:c.2179C>T, NM_002661.4:c.2179C>A, NM_002661.4:c.2179C>T, NM_002661.3:c.2179C>A, NM_002661.3:c.2179C>T, NP_002652.2:p.Arg727Ter

<< First< Prev

Page of 50

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 1000

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity