SNP Links for Protein (Select 16418467) - SNP

Links from Protein

Items: 1 to 20 of 403

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Select item 14892908121.

rs1489290812 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:4538365 (GRCh38)
19:4538377 (GRCh37)
Canonical SPDI:: NC_000019.10:4538364:G:T
Gene:: LRG1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.4538365G>T, NC_000019.9:g.4538377G>T, NM_052972.3:c.619C>A, NM_052972.2:c.619C>A, NP_443204.1:p.Leu207Ile

Select item 14855586682.

rs1485558668 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:4538826 (GRCh38)
19:4538838 (GRCh37)
Canonical SPDI:: NC_000019.10:4538825:G:A,NC_000019.10:4538825:G:T
Gene:: LRG1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.4538826G>A, NC_000019.10:g.4538826G>T, NC_000019.9:g.4538838G>A, NC_000019.9:g.4538838G>T, NM_052972.3:c.158C>T, NM_052972.3:c.158C>A, NM_052972.2:c.158C>T, NM_052972.2:c.158C>A, NP_443204.1:p.Ser53Phe, NP_443204.1:p.Ser53Tyr

Select item 14835612823.

rs1483561282 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:4538359 (GRCh38)
19:4538371 (GRCh37)
Canonical SPDI:: NC_000019.10:4538358:T:C
Gene:: LRG1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.4538359T>C, NC_000019.9:g.4538371T>C, NM_052972.3:c.625A>G, NM_052972.2:c.625A>G, NP_443204.1:p.Arg209Gly

Select item 14807194464.

rs1480719446 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:4538885 (GRCh38)
19:4538897 (GRCh37)
Canonical SPDI:: NC_000019.10:4538884:G:T
Gene:: LRG1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.4538885G>T, NC_000019.9:g.4538897G>T, NM_052972.3:c.99C>A, NM_052972.2:c.99C>A

Select item 14794957045.

rs1479495704 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:4538308 (GRCh38)
19:4538320 (GRCh37)
Canonical SPDI:: NC_000019.10:4538307:C:G,NC_000019.10:4538307:C:T
Gene:: LRG1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.4538308C>G, NC_000019.10:g.4538308C>T, NC_000019.9:g.4538320C>G, NC_000019.9:g.4538320C>T, NM_052972.3:c.676G>C, NM_052972.3:c.676G>A, NM_052972.2:c.676G>C, NM_052972.2:c.676G>A, NP_443204.1:p.Val226Leu, NP_443204.1:p.Val226Ile

Select item 14766241036.

rs1476624103 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 19:4538017 (GRCh38)
19:4538029 (GRCh37)
Canonical SPDI:: NC_000019.10:4538016:AAAA:AAA
Gene:: LRG1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
-=0.000015/4 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.4538020del, NC_000019.9:g.4538032del, NM_052972.3:c.967del, NM_052972.2:c.967del, NP_443204.1:p.Ser323fs

Select item 14731292647.

rs1473129264 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 19:4538289 (GRCh38)
19:4538301 (GRCh37)
Canonical SPDI:: NC_000019.10:4538286:AGAG:AG
Gene:: LRG1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.4538287AG[1], NC_000019.9:g.4538299AG[1], NM_052972.3:c.696_697del, NM_052972.2:c.696_697del, NP_443204.1:p.Leu233fs

Select item 14729834178.

rs1472983417 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:4538525 (GRCh38)
19:4538537 (GRCh37)
Canonical SPDI:: NC_000019.10:4538524:C:T
Gene:: LRG1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.4538525C>T, NC_000019.9:g.4538537C>T, NM_052972.3:c.459G>A, NM_052972.2:c.459G>A

Select item 14689388319.

rs1468938831 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:4538698 (GRCh38)
19:4538710 (GRCh37)
Canonical SPDI:: NC_000019.10:4538697:C:T
Gene:: LRG1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.4538698C>T, NC_000019.9:g.4538710C>T, NM_052972.3:c.286G>A, NM_052972.2:c.286G>A, NP_443204.1:p.Glu96Lys

Select item 146726601010.

rs1467266010 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:4538153 (GRCh38)
19:4538165 (GRCh37)
Canonical SPDI:: NC_000019.10:4538152:C:G
Gene:: LRG1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000019.10:g.4538153C>G, NC_000019.9:g.4538165C>G, NM_052972.3:c.831G>C, NM_052972.2:c.831G>C, NP_443204.1:p.Glu277Asp

Select item 146673837811.

rs1466738378 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:4539987 (GRCh38)
19:4539999 (GRCh37)
Canonical SPDI:: NC_000019.10:4539986:T:C
Gene:: LRG1 (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=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.4539987T>C, NC_000019.9:g.4539999T>C, NM_052972.3:c.27A>G, NM_052972.2:c.27A>G

Select item 146672007412.

rs1466720074 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:4538436 (GRCh38)
19:4538448 (GRCh37)
Canonical SPDI:: NC_000019.10:4538435:A:C
Gene:: LRG1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.4538436A>C, NC_000019.9:g.4538448A>C, NM_052972.3:c.548T>G, NM_052972.2:c.548T>G, NP_443204.1:p.Leu183Arg

Select item 146494003613.

rs1464940036 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:4538729 (GRCh38)
19:4538741 (GRCh37)
Canonical SPDI:: NC_000019.10:4538728:G:C
Gene:: LRG1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000019.10:g.4538729G>C, NC_000019.9:g.4538741G>C, NM_052972.3:c.255C>G, NM_052972.2:c.255C>G

Select item 145388434514.

rs1453884345 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:4538784 (GRCh38)
19:4538796 (GRCh37)
Canonical SPDI:: NC_000019.10:4538783:G:A
Gene:: LRG1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000019.10:g.4538784G>A, NC_000019.9:g.4538796G>A, NM_052972.3:c.200C>T, NM_052972.2:c.200C>T, NP_443204.1:p.Pro67Leu

Select item 145248430015.

rs1452484300 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:4538679 (GRCh38)
19:4538691 (GRCh37)
Canonical SPDI:: NC_000019.10:4538678:T:C
Gene:: LRG1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
HGVS:: NC_000019.10:g.4538679T>C, NC_000019.9:g.4538691T>C, NM_052972.3:c.305A>G, NM_052972.2:c.305A>G, NP_443204.1:p.Asn102Ser

Select item 144885343716.

rs1448853437 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:4538445 (GRCh38)
19:4538457 (GRCh37)
Canonical SPDI:: NC_000019.10:4538444:G:A,NC_000019.10:4538444:G:T
Gene:: LRG1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.4538445G>A, NC_000019.10:g.4538445G>T, NC_000019.9:g.4538457G>A, NC_000019.9:g.4538457G>T, NM_052972.3:c.539C>T, NM_052972.3:c.539C>A, NM_052972.2:c.539C>T, NM_052972.2:c.539C>A, NP_443204.1:p.Pro180Leu, NP_443204.1:p.Pro180His

Select item 144139048117.

rs1441390481 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:4538039 (GRCh38)
19:4538051 (GRCh37)
Canonical SPDI:: NC_000019.10:4538038:C:G
Gene:: LRG1 (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=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.4538039C>G, NC_000019.9:g.4538051C>G, NM_052972.3:c.945G>C, NM_052972.2:c.945G>C, NP_443204.1:p.Gln315His

Select item 143883844818.

rs1438838448 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:4538409 (GRCh38)
19:4538421 (GRCh37)
Canonical SPDI:: NC_000019.10:4538408:G:A
Gene:: LRG1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.4538409G>A, NC_000019.9:g.4538421G>A, NM_052972.3:c.575C>T, NM_052972.2:c.575C>T, NP_443204.1:p.Thr192Ile

Select item 143794560719.

rs1437945607 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:4538459 (GRCh38)
19:4538471 (GRCh37)
Canonical SPDI:: NC_000019.10:4538458:G:A,NC_000019.10:4538458:G:T
Gene:: LRG1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.4538459G>A, NC_000019.10:g.4538459G>T, NC_000019.9:g.4538471G>A, NC_000019.9:g.4538471G>T, NM_052972.3:c.525C>T, NM_052972.3:c.525C>A, NM_052972.2:c.525C>T, NM_052972.2:c.525C>A

Select item 143711801320.

rs1437118013 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:4538719 (GRCh38)
19:4538731 (GRCh37)
Canonical SPDI:: NC_000019.10:4538718:G:A
Gene:: LRG1 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.4538719G>A, NC_000019.9:g.4538731G>A, NM_052972.3:c.265C>T, NM_052972.2:c.265C>T, NP_443204.1:p.Gln89Ter

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