SNP Links for Protein (Select 30410035) - SNP

Links from Protein

Items: 1 to 20 of 128

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Select item 14672906351.

rs1467290635 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:152511665 (GRCh38)
1:152484141 (GRCh37)
Canonical SPDI:: NC_000001.11:152511664:G:A,NC_000001.11:152511664:G:C
Gene:: LCE5A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.152511665G>A, NC_000001.11:g.152511665G>C, NC_000001.10:g.152484141G>A, NC_000001.10:g.152484141G>C, NM_178438.5:c.131G>A, NM_178438.5:c.131G>C, NM_178438.4:c.131G>A, NM_178438.4:c.131G>C, NP_848525.1:p.Cys44Tyr, NP_848525.1:p.Cys44Ser

Select item 14642271782.

rs1464227178 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:152511888 (GRCh38)
1:152484364 (GRCh37)
Canonical SPDI:: NC_000001.11:152511887:C:G
Gene:: LCE5A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000084/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.152511888C>G, NC_000001.10:g.152484364C>G, NM_178438.5:c.354C>G, NM_178438.4:c.354C>G, NP_848525.1:p.Cys118Trp

Select item 14586218493.

rs1458621849 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:152511716 (GRCh38)
1:152484192 (GRCh37)
Canonical SPDI:: NC_000001.11:152511715:G:C
Gene:: LCE5A (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000001.11:g.152511716G>C, NC_000001.10:g.152484192G>C, NM_178438.5:c.182G>C, NM_178438.4:c.182G>C, NP_848525.1:p.Ser61Thr

Select item 14574417184.

rs1457441718 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:152511578 (GRCh38)
1:152484054 (GRCh37)
Canonical SPDI:: NC_000001.11:152511577:A:G
Gene:: LCE5A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.152511578A>G, NC_000001.10:g.152484054A>G, NM_178438.5:c.44A>G, NM_178438.4:c.44A>G, NP_848525.1:p.Lys15Arg

Select item 14243574385.

rs1424357438 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:152511883 (GRCh38)
1:152484359 (GRCh37)
Canonical SPDI:: NC_000001.11:152511882:T:G
Gene:: LCE5A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.152511883T>G, NC_000001.10:g.152484359T>G, NM_178438.5:c.349T>G, NM_178438.4:c.349T>G, NP_848525.1:p.Cys117Gly

Select item 14238899366.

rs1423889936 [Homo sapiens]

Variant type:: DEL
Alleles:: AGCTGCTGCCACAGCTCTGGGGGCTCT>- [Show Flanks]
Chromosome:: 1:152511832 (GRCh38)
1:152484308 (GRCh37)
Canonical SPDI:: NC_000001.11:152511831:AGCTGCTGCCACAGCTCTGGGGGCTCT:
Gene:: LCE5A (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
-=0.000071/1 (TOMMO)
HGVS:: NC_000001.11:g.152511832_152511858del, NC_000001.10:g.152484308_152484334del, NM_178438.5:c.298_324del, NM_178438.4:c.298_324del, NP_848525.1:p.Ser100_Ser108del

Select item 14237354917.

rs1423735491 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:152511776 (GRCh38)
1:152484252 (GRCh37)
Canonical SPDI:: NC_000001.11:152511775:G:A
Gene:: LCE5A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000087/2 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000016/4 (GnomAD_exomes)
A=0.00003/8 (TOPMED)
A=0.00006/1 (TOMMO)
A=0.000546/1 (Korea1K)
HGVS:: NC_000001.11:g.152511776G>A, NC_000001.10:g.152484252G>A, NM_178438.5:c.242G>A, NM_178438.4:c.242G>A, NP_848525.1:p.Arg81Gln

Select item 14199122998.

rs1419912299 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:152511591 (GRCh38)
1:152484067 (GRCh37)
Canonical SPDI:: NC_000001.11:152511590:A:G
Gene:: LCE5A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.152511591A>G, NC_000001.10:g.152484067A>G, NM_178438.5:c.57A>G, NM_178438.4:c.57A>G

Select item 14008821769.

rs1400882176 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:152511731 (GRCh38)
1:152484207 (GRCh37)
Canonical SPDI:: NC_000001.11:152511730:G:C
Gene:: LCE5A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.152511731G>C, NC_000001.10:g.152484207G>C, NM_178438.5:c.197G>C, NM_178438.4:c.197G>C, NP_848525.1:p.Gly66Ala

Select item 139822942410.

rs1398229424 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:152511794 (GRCh38)
1:152484270 (GRCh37)
Canonical SPDI:: NC_000001.11:152511793:G:T
Gene:: LCE5A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.152511794G>T, NC_000001.10:g.152484270G>T, NM_178438.5:c.260G>T, NM_178438.4:c.260G>T, NP_848525.1:p.Cys87Phe

Select item 139516701211.

rs1395167012 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:152511668 (GRCh38)
1:152484144 (GRCh37)
Canonical SPDI:: NC_000001.11:152511667:C:T
Gene:: LCE5A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.152511668C>T, NC_000001.10:g.152484144C>T, NM_178438.5:c.134C>T, NM_178438.4:c.134C>T, NP_848525.1:p.Pro45Leu

Select item 139312785812.

rs1393127858 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:152511553 (GRCh38)
1:152484029 (GRCh37)
Canonical SPDI:: NC_000001.11:152511552:C:T
Gene:: LCE5A (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.152511553C>T, NC_000001.10:g.152484029C>T, NM_178438.5:c.19C>T, NM_178438.4:c.19C>T, NP_848525.1:p.Gln7Ter

Select item 138873416813.

rs1388734168 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:152511748 (GRCh38)
1:152484224 (GRCh37)
Canonical SPDI:: NC_000001.11:152511747:C:T
Gene:: LCE5A (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=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.152511748C>T, NC_000001.10:g.152484224C>T, NM_178438.5:c.214C>T, NM_178438.4:c.214C>T, NP_848525.1:p.His72Tyr

Select item 138379073614.

rs1383790736 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:152511840 (GRCh38)
1:152484316 (GRCh37)
Canonical SPDI:: NC_000001.11:152511839:C:T
Gene:: LCE5A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.152511840C>T, NC_000001.10:g.152484316C>T, NM_178438.5:c.306C>T, NM_178438.4:c.306C>T

Select item 138000673115.

rs1380006731 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:152511610 (GRCh38)
1:152484086 (GRCh37)
Canonical SPDI:: NC_000001.11:152511609:C:G
Gene:: LCE5A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.152511610C>G, NC_000001.10:g.152484086C>G, NM_178438.5:c.76C>G, NM_178438.4:c.76C>G, NP_848525.1:p.Pro26Ala

Select item 134127509616.

rs1341275096 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:152511833 (GRCh38)
1:152484309 (GRCh37)
Canonical SPDI:: NC_000001.11:152511832:G:A
Gene:: LCE5A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000056/2 (ALFA)
A=0.000012/3 (GnomAD_exomes)
A=0.000034/9 (TOPMED)
A=0.000043/6 (GnomAD)
HGVS:: NC_000001.11:g.152511833G>A, NC_000001.10:g.152484309G>A, NM_178438.5:c.299G>A, NM_178438.4:c.299G>A, NP_848525.1:p.Ser100Asn

Select item 133999356717.

rs1339993567 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAG>- [Show Flanks]
Chromosome:: 1:152511801 (GRCh38)
1:152484277 (GRCh37)
Canonical SPDI:: NC_000001.11:152511799:GCAG:G
Gene:: LCE5A (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.152511801_152511803del, NC_000001.10:g.152484277_152484279del, NM_178438.5:c.267_269del, NM_178438.4:c.267_269del, NP_848525.1:p.Ser90del

Select item 133990473318.

rs1339904733 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:152511753 (GRCh38)
1:152484229 (GRCh37)
Canonical SPDI:: NC_000001.11:152511752:G:A,NC_000001.11:152511752:G:C
Gene:: LCE5A (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.152511753G>A, NC_000001.11:g.152511753G>C, NC_000001.10:g.152484229G>A, NC_000001.10:g.152484229G>C, NM_178438.5:c.219G>A, NM_178438.5:c.219G>C, NM_178438.4:c.219G>A, NM_178438.4:c.219G>C, NP_848525.1:p.Arg73Ser

Select item 133336083019.

rs1333360830 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:152511680 (GRCh38)
1:152484156 (GRCh37)
Canonical SPDI:: NC_000001.11:152511679:C:G
Gene:: LCE5A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.152511680C>G, NC_000001.10:g.152484156C>G, NM_178438.5:c.146C>G, NM_178438.4:c.146C>G, NP_848525.1:p.Ser49Cys

Select item 133264830320.

rs1332648303 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:152511666 (GRCh38)
1:152484142 (GRCh37)
Canonical SPDI:: NC_000001.11:152511665:C:T
Gene:: LCE5A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.152511666C>T, NC_000001.10:g.152484142C>T, NM_178438.5:c.132C>T, NM_178438.4:c.132C>T

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