SNP Links for Protein (Select 4506141) - SNP

Links from Protein

Items: 1 to 20 of 502

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Select item 14893642411.

rs1489364241 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 10:122461968 (GRCh38)
10:124221484 (GRCh37)
Canonical SPDI:: NC_000010.11:122461967:C:A,NC_000010.11:122461967:C:G
Gene:: HTRA1 (Varview), LOC105378525 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
G=0.00001/1 (GnomAD_exomes)
A=0.000223/1 (Estonian)
HGVS:: NC_000010.11:g.122461968C>A, NC_000010.11:g.122461968C>G, NC_000010.10:g.124221484C>A, NC_000010.10:g.124221484C>G, NG_011554.1:g.5444C>A, NG_011554.1:g.5444C>G, NM_002775.5:c.316C>A, NM_002775.5:c.316C>G, NM_002775.4:c.316C>A, NM_002775.4:c.316C>G, NP_002766.1:p.Gln106Lys, NP_002766.1:p.Gln106Glu

Select item 14875511652.

rs1487551165 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:122462054 (GRCh38)
10:124221570 (GRCh37)
Canonical SPDI:: NC_000010.11:122462053:C:A
Gene:: HTRA1 (Varview), LOC105378525 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.122462054C>A, NC_000010.10:g.124221570C>A, NG_011554.1:g.5530C>A, NM_002775.5:c.402C>A, NM_002775.4:c.402C>A

Select item 14868822483.

rs1486882248 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:122510133 (GRCh38)
10:124269649 (GRCh37)
Canonical SPDI:: NC_000010.11:122510132:A:C
Gene:: HTRA1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.122510133A>C, NC_000010.10:g.124269649A>C, NG_011554.1:g.53609A>C, NM_002775.5:c.1158A>C, NM_002775.4:c.1158A>C

Select item 14839369444.

rs1483936944 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 10:122461822 (GRCh38)
10:124221338 (GRCh37)
Canonical SPDI:: NC_000010.11:122461821:G:A,NC_000010.11:122461821:G:C
Gene:: HTRA1 (Varview), LOC105378525 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000022/3 (GnomAD)
C=0.000035/1 (TOMMO)
A=0.000045/12 (TOPMED)
HGVS:: NC_000010.11:g.122461822G>A, NC_000010.11:g.122461822G>C, NC_000010.10:g.124221338G>A, NC_000010.10:g.124221338G>C, NG_011554.1:g.5298G>A, NG_011554.1:g.5298G>C, NM_002775.5:c.170G>A, NM_002775.5:c.170G>C, NM_002775.4:c.170G>A, NM_002775.4:c.170G>C, NP_002766.1:p.Arg57Gln, NP_002766.1:p.Arg57Pro

Select item 14818539465.

rs1481853946 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 10:122461956 (GRCh38)
10:124221472 (GRCh37)
Canonical SPDI:: NC_000010.11:122461955:C:G,NC_000010.11:122461955:C:T
Gene:: HTRA1 (Varview), LOC105378525 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000010.11:g.122461956C>G, NC_000010.11:g.122461956C>T, NC_000010.10:g.124221472C>G, NC_000010.10:g.124221472C>T, NG_011554.1:g.5432C>G, NG_011554.1:g.5432C>T, NM_002775.5:c.304C>G, NM_002775.5:c.304C>T, NM_002775.4:c.304C>G, NM_002775.4:c.304C>T, NP_002766.1:p.Arg102Gly, NP_002766.1:p.Arg102Trp

Select item 14795318166.

rs1479531816 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:122461698 (GRCh38)
10:124221214 (GRCh37)
Canonical SPDI:: NC_000010.11:122461697:C:T
Gene:: HTRA1 (Varview), LOC105378525 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.122461698C>T, NC_000010.10:g.124221214C>T, NG_011554.1:g.5174C>T, NM_002775.5:c.46C>T, NM_002775.4:c.46C>T

Select item 14788454437.

rs1478845443 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 10:122461898 (GRCh38)
10:124221414 (GRCh37)
Canonical SPDI:: NC_000010.11:122461897:G:C,NC_000010.11:122461897:G:T
Gene:: HTRA1 (Varview), LOC105378525 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000022/3 (GnomAD)
HGVS:: NC_000010.11:g.122461898G>C, NC_000010.11:g.122461898G>T, NC_000010.10:g.124221414G>C, NC_000010.10:g.124221414G>T, NG_011554.1:g.5374G>C, NG_011554.1:g.5374G>T, NM_002775.5:c.246G>C, NM_002775.5:c.246G>T, NM_002775.4:c.246G>C, NM_002775.4:c.246G>T

Select item 14778555148.

rs1477855514 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:122488976 (GRCh38)
10:124248492 (GRCh37)
Canonical SPDI:: NC_000010.11:122488975:G:A
Gene:: HTRA1 (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=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.122488976G>A, NC_000010.10:g.124248492G>A, NG_011554.1:g.32452G>A, NM_002775.5:c.547G>A, NM_002775.4:c.547G>A, NP_002766.1:p.Val183Met

Select item 14774207609.

rs1477420760 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:122489517 (GRCh38)
10:124249033 (GRCh37)
Canonical SPDI:: NC_000010.11:122489516:C:G
Gene:: HTRA1 (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=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.122489517C>G, NC_000010.10:g.124249033C>G, NG_011554.1:g.32993C>G, NM_002775.5:c.668C>G, NM_002775.4:c.668C>G, NP_002766.1:p.Thr223Ser

Select item 147321990010.

rs1473219900 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 10:122461785 (GRCh38)
10:124221301 (GRCh37)
Canonical SPDI:: NC_000010.11:122461784:C:A,NC_000010.11:122461784:C:T
Gene:: HTRA1 (Varview), LOC105378525 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant
Clinical significance:: uncertain-significance
HGVS:: NC_000010.11:g.122461785C>A, NC_000010.11:g.122461785C>T, NC_000010.10:g.124221301C>A, NC_000010.10:g.124221301C>T, NG_011554.1:g.5261C>A, NG_011554.1:g.5261C>T, NM_002775.5:c.133C>A, NM_002775.5:c.133C>T, NM_002775.4:c.133C>A, NM_002775.4:c.133C>T, NP_002766.1:p.Arg45Ser, NP_002766.1:p.Arg45Cys

Select item 147261757611.

rs1472617576 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:122489449 (GRCh38)
10:124248965 (GRCh37)
Canonical SPDI:: NC_000010.11:122489448:G:A
Gene:: HTRA1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.122489449G>A, NC_000010.10:g.124248965G>A, NG_011554.1:g.32925G>A, NM_002775.5:c.600G>A, NM_002775.4:c.600G>A

Select item 147252425412.

rs1472524254 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:122508739 (GRCh38)
10:124268255 (GRCh37)
Canonical SPDI:: NC_000010.11:122508738:C:T
Gene:: HTRA1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.122508739C>T, NC_000010.10:g.124268255C>T, NG_011554.1:g.52215C>T, NM_002775.5:c.1089C>T, NM_002775.4:c.1089C>T

Select item 146919018813.

rs1469190188 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:122461908 (GRCh38)
10:124221424 (GRCh37)
Canonical SPDI:: NC_000010.11:122461907:G:A
Gene:: HTRA1 (Varview), LOC105378525 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant
Validated:: by frequency
MAF:: A=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.122461908G>A, NC_000010.10:g.124221424G>A, NG_011554.1:g.5384G>A, NM_002775.5:c.256G>A, NM_002775.4:c.256G>A, NP_002766.1:p.Gly86Arg

Select item 146902206614.

rs1469022066 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 10:122461738 (GRCh38)
10:124221254 (GRCh37)
Canonical SPDI:: NC_000010.11:122461737:G:A,NC_000010.11:122461737:G:T
Gene:: HTRA1 (Varview), LOC105378525 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.00006/16 (TOPMED)
HGVS:: NC_000010.11:g.122461738G>A, NC_000010.11:g.122461738G>T, NC_000010.10:g.124221254G>A, NC_000010.10:g.124221254G>T, NG_011554.1:g.5214G>A, NG_011554.1:g.5214G>T, NM_002775.5:c.86G>A, NM_002775.5:c.86G>T, NM_002775.4:c.86G>A, NM_002775.4:c.86G>T, NP_002766.1:p.Arg29His, NP_002766.1:p.Arg29Leu

Select item 146868603115.

rs1468686031 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:122514258 (GRCh38)
10:124273774 (GRCh37)
Canonical SPDI:: NC_000010.11:122514257:G:A
Gene:: HTRA1 (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)
HGVS:: NC_000010.11:g.122514258G>A, NC_000010.10:g.124273774G>A, NG_011554.1:g.57734G>A, NM_002775.5:c.1342G>A, NM_002775.4:c.1342G>A, NP_002766.1:p.Val448Ile

Select item 146834344416.

rs1468343444 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:122510112 (GRCh38)
10:124269628 (GRCh37)
Canonical SPDI:: NC_000010.11:122510111:G:A
Gene:: HTRA1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000010.11:g.122510112G>A, NC_000010.10:g.124269628G>A, NG_011554.1:g.53588G>A, NM_002775.5:c.1137G>A, NM_002775.4:c.1137G>A

Select item 146724474717.

rs1467244747 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:122461795 (GRCh38)
10:124221311 (GRCh37)
Canonical SPDI:: NC_000010.11:122461794:C:T
Gene:: HTRA1 (Varview), LOC105378525 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.122461795C>T, NC_000010.10:g.124221311C>T, NG_011554.1:g.5271C>T, NM_002775.5:c.143C>T, NM_002775.4:c.143C>T, NP_002766.1:p.Pro48Leu

Select item 146664257918.

rs1466642579 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:122488903 (GRCh38)
10:124248419 (GRCh37)
Canonical SPDI:: NC_000010.11:122488902:G:T
Gene:: HTRA1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.122488903G>T, NC_000010.10:g.124248419G>T, NG_011554.1:g.32379G>T, NM_002775.5:c.474G>T, NM_002775.4:c.474G>T

Select item 146637594219.

rs1466375942 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:122461995 (GRCh38)
10:124221511 (GRCh37)
Canonical SPDI:: NC_000010.11:122461994:A:C
Gene:: HTRA1 (Varview), LOC105378525 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.122461995A>C, NC_000010.10:g.124221511A>C, NG_011554.1:g.5471A>C, NM_002775.5:c.343A>C, NM_002775.4:c.343A>C, NP_002766.1:p.Ser115Arg

Select item 146122309920.

rs1461223099 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:122461838 (GRCh38)
10:124221354 (GRCh37)
Canonical SPDI:: NC_000010.11:122461837:C:A
Gene:: HTRA1 (Varview), LOC105378525 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,upstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000010.11:g.122461838C>A, NC_000010.10:g.124221354C>A, NG_011554.1:g.5314C>A, NM_002775.5:c.186C>A, NM_002775.4:c.186C>A, NP_002766.1:p.Cys62Ter

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