SNP Links for Protein (Select 148839382) - SNP

Links from Protein

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Select item 14883792901.

rs1488379290 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:74749357 (GRCh38)
11:74460402 (GRCh37)
Canonical SPDI:: NC_000011.10:74749356:G:A,NC_000011.10:74749356:G:C
Gene:: RNF169 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.74749357G>A, NC_000011.10:g.74749357G>C, NC_000011.9:g.74460402G>A, NC_000011.9:g.74460402G>C, XM_011544889.4:c.477G>A, XM_011544889.4:c.477G>C, XM_011544889.3:c.477G>A, XM_011544889.3:c.477G>C, XM_011544889.2:c.477G>A, XM_011544889.2:c.477G>C, XM_011544889.1:c.477G>A, XM_011544889.1:c.477G>C, NM_001098638.2:c.477G>A, NM_001098638.2:c.477G>C, NM_001098638.1:c.477G>A, NM_001098638.1:c.477G>C, XP_011543191.1:p.Glu159Asp, NP_001092108.1:p.Glu159Asp

Select item 14880977842.

rs1488097784 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:74749342 (GRCh38)
11:74460387 (GRCh37)
Canonical SPDI:: NC_000011.10:74749341:C:A
Gene:: RNF169 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0.00007/1 (ALFA)
HGVS:: NC_000011.10:g.74749342C>A, NC_000011.9:g.74460387C>A, XM_011544889.4:c.462C>A, XM_011544889.3:c.462C>A, XM_011544889.2:c.462C>A, XM_011544889.1:c.462C>A, NM_001098638.2:c.462C>A, NM_001098638.1:c.462C>A

Select item 14859866543.

rs1485986654 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:74810244 (GRCh38)
11:74521289 (GRCh37)
Canonical SPDI:: NC_000011.10:74810243:C:G
Gene:: RNF169 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.74810244C>G, NC_000011.9:g.74521289C>G, XM_011544889.4:c.700C>G, XM_011544889.3:c.700C>G, XM_011544889.2:c.700C>G, XM_011544889.1:c.700C>G, NM_001098638.2:c.637C>G, NM_001098638.1:c.637C>G, XM_047426707.1:c.-30C>G, XP_011543191.1:p.Pro234Ala, NP_001092108.1:p.Pro213Ala

Select item 14847791074.

rs1484779107 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:74835608 (GRCh38)
11:74546653 (GRCh37)
Canonical SPDI:: NC_000011.10:74835607:C:T
Gene:: RNF169 (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)
HGVS:: NC_000011.10:g.74835608C>T, NC_000011.9:g.74546653C>T, XM_011544889.4:c.1068C>T, XM_011544889.3:c.1068C>T, XM_011544889.2:c.1068C>T, XM_011544889.1:c.1068C>T, NM_001098638.2:c.1005C>T, NM_001098638.1:c.1005C>T, XM_047426707.1:c.339C>T

Select item 14844115995.

rs1484411599 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:74836042 (GRCh38)
11:74547087 (GRCh37)
Canonical SPDI:: NC_000011.10:74836041:T:G
Gene:: RNF169 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000008/2 (GnomAD_exomes)
G=0.002183/4 (Korea1K)
HGVS:: NC_000011.10:g.74836042T>G, NC_000011.9:g.74547087T>G, XM_011544889.4:c.1502T>G, XM_011544889.3:c.1502T>G, XM_011544889.2:c.1502T>G, XM_011544889.1:c.1502T>G, NM_001098638.2:c.1439T>G, NM_001098638.1:c.1439T>G, XM_047426707.1:c.773T>G, XP_011543191.1:p.Val501Gly, NP_001092108.1:p.Val480Gly, XP_047282663.1:p.Val258Gly

Select item 14838542766.

rs1483854276 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:74836683 (GRCh38)
11:74547728 (GRCh37)
Canonical SPDI:: NC_000011.10:74836682:G:A
Gene:: RNF169 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000011.10:g.74836683G>A, NC_000011.9:g.74547728G>A, XM_011544889.4:c.2143G>A, XM_011544889.3:c.2143G>A, XM_011544889.2:c.2143G>A, XM_011544889.1:c.2143G>A, NM_001098638.2:c.2080G>A, NM_001098638.1:c.2080G>A, XM_047426707.1:c.1414G>A, XP_011543191.1:p.Val715Met, NP_001092108.1:p.Val694Met, XP_047282663.1:p.Val472Met

Select item 14828601607.

rs1482860160 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:74835667 (GRCh38)
11:74546712 (GRCh37)
Canonical SPDI:: NC_000011.10:74835666:C:T
Gene:: RNF169 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.74835667C>T, NC_000011.9:g.74546712C>T, XM_011544889.4:c.1127C>T, XM_011544889.3:c.1127C>T, XM_011544889.2:c.1127C>T, XM_011544889.1:c.1127C>T, NM_001098638.2:c.1064C>T, NM_001098638.1:c.1064C>T, XM_047426707.1:c.398C>T, XP_011543191.1:p.Ser376Leu, NP_001092108.1:p.Ser355Leu, XP_047282663.1:p.Ser133Leu

Select item 14824422508.

rs1482442250 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:74834764 (GRCh38)
11:74545809 (GRCh37)
Canonical SPDI:: NC_000011.10:74834763:A:G
Gene:: RNF169 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.74834764A>G, NC_000011.9:g.74545809A>G, XM_011544889.4:c.994A>G, XM_011544889.3:c.994A>G, XM_011544889.2:c.994A>G, XM_011544889.1:c.994A>G, NM_001098638.2:c.931A>G, NM_001098638.1:c.931A>G, XM_047426707.1:c.265A>G, XP_011543191.1:p.Asn332Asp, NP_001092108.1:p.Asn311Asp, XP_047282663.1:p.Asn89Asp

Select item 14823891289.

rs1482389128 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:74749227 (GRCh38)
11:74460272 (GRCh37)
Canonical SPDI:: NC_000011.10:74749226:G:A
Gene:: RNF169 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000011.10:g.74749227G>A, NC_000011.9:g.74460272G>A, XM_011544889.4:c.347G>A, XM_011544889.3:c.347G>A, XM_011544889.2:c.347G>A, XM_011544889.1:c.347G>A, NM_001098638.2:c.347G>A, NM_001098638.1:c.347G>A, XP_011543191.1:p.Arg116His, NP_001092108.1:p.Arg116His

Select item 148180504210.

rs1481805042 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:74836573 (GRCh38)
11:74547618 (GRCh37)
Canonical SPDI:: NC_000011.10:74836572:G:A
Gene:: RNF169 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000012/3 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.74836573G>A, NC_000011.9:g.74547618G>A, XM_011544889.4:c.2033G>A, XM_011544889.3:c.2033G>A, XM_011544889.2:c.2033G>A, XM_011544889.1:c.2033G>A, NM_001098638.2:c.1970G>A, NM_001098638.1:c.1970G>A, XM_047426707.1:c.1304G>A, XP_011543191.1:p.Arg678Gln, NP_001092108.1:p.Arg657Gln, XP_047282663.1:p.Arg435Gln

Select item 148171145611.

rs1481711456 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:74835784 (GRCh38)
11:74546829 (GRCh37)
Canonical SPDI:: NC_000011.10:74835783:A:G
Gene:: RNF169 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000031/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.74835784A>G, NC_000011.9:g.74546829A>G, XM_011544889.4:c.1244A>G, XM_011544889.3:c.1244A>G, XM_011544889.2:c.1244A>G, XM_011544889.1:c.1244A>G, NM_001098638.2:c.1181A>G, NM_001098638.1:c.1181A>G, XM_047426707.1:c.515A>G, XP_011543191.1:p.Lys415Arg, NP_001092108.1:p.Lys394Arg, XP_047282663.1:p.Lys172Arg

Select item 147888209112.

rs1478882091 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:74749298 (GRCh38)
11:74460343 (GRCh37)
Canonical SPDI:: NC_000011.10:74749297:C:A,NC_000011.10:74749297:C:T
Gene:: RNF169 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000011.10:g.74749298C>A, NC_000011.10:g.74749298C>T, NC_000011.9:g.74460343C>A, NC_000011.9:g.74460343C>T, XM_011544889.4:c.418C>A, XM_011544889.4:c.418C>T, XM_011544889.3:c.418C>A, XM_011544889.3:c.418C>T, XM_011544889.2:c.418C>A, XM_011544889.2:c.418C>T, XM_011544889.1:c.418C>A, XM_011544889.1:c.418C>T, NM_001098638.2:c.418C>A, NM_001098638.2:c.418C>T, NM_001098638.1:c.418C>A, NM_001098638.1:c.418C>T, XP_011543191.1:p.Arg140Ser, XP_011543191.1:p.Arg140Cys, NP_001092108.1:p.Arg140Ser, NP_001092108.1:p.Arg140Cys

Select item 147797174113.

rs1477971741 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 11:74749331 (GRCh38)
11:74460376 (GRCh37)
Canonical SPDI:: NC_000011.10:74749330:G:C,NC_000011.10:74749330:G:T
Gene:: RNF169 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.74749331G>C, NC_000011.10:g.74749331G>T, NC_000011.9:g.74460376G>C, NC_000011.9:g.74460376G>T, XM_011544889.4:c.451G>C, XM_011544889.4:c.451G>T, XM_011544889.3:c.451G>C, XM_011544889.3:c.451G>T, XM_011544889.2:c.451G>C, XM_011544889.2:c.451G>T, XM_011544889.1:c.451G>C, XM_011544889.1:c.451G>T, NM_001098638.2:c.451G>C, NM_001098638.2:c.451G>T, NM_001098638.1:c.451G>C, NM_001098638.1:c.451G>T, XP_011543191.1:p.Ala151Pro, XP_011543191.1:p.Ala151Ser, NP_001092108.1:p.Ala151Pro, NP_001092108.1:p.Ala151Ser

Select item 147672754314.

rs1476727543 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:74836586 (GRCh38)
11:74547631 (GRCh37)
Canonical SPDI:: NC_000011.10:74836585:G:T
Gene:: RNF169 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.74836586G>T, NC_000011.9:g.74547631G>T, XM_011544889.4:c.2046G>T, XM_011544889.3:c.2046G>T, XM_011544889.2:c.2046G>T, XM_011544889.1:c.2046G>T, NM_001098638.2:c.1983G>T, NM_001098638.1:c.1983G>T, XM_047426707.1:c.1317G>T, XP_011543191.1:p.Gln682His, NP_001092108.1:p.Gln661His, XP_047282663.1:p.Gln439His

Select item 147558302915.

rs1475583029 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 11:74835678 (GRCh38)
11:74546723 (GRCh37)
Canonical SPDI:: NC_000011.10:74835677:T:C,NC_000011.10:74835677:T:G
Gene:: RNF169 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.74835678T>C, NC_000011.10:g.74835678T>G, NC_000011.9:g.74546723T>C, NC_000011.9:g.74546723T>G, XM_011544889.4:c.1138T>C, XM_011544889.4:c.1138T>G, XM_011544889.3:c.1138T>C, XM_011544889.3:c.1138T>G, XM_011544889.2:c.1138T>C, XM_011544889.2:c.1138T>G, XM_011544889.1:c.1138T>C, XM_011544889.1:c.1138T>G, NM_001098638.2:c.1075T>C, NM_001098638.2:c.1075T>G, NM_001098638.1:c.1075T>C, NM_001098638.1:c.1075T>G, XM_047426707.1:c.409T>C, XM_047426707.1:c.409T>G, XP_011543191.1:p.Ser380Pro, XP_011543191.1:p.Ser380Ala, NP_001092108.1:p.Ser359Pro, NP_001092108.1:p.Ser359Ala, XP_047282663.1:p.Ser137Pro, XP_047282663.1:p.Ser137Ala

Select item 147482328816.

rs1474823288 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:74836075 (GRCh38)
11:74547120 (GRCh37)
Canonical SPDI:: NC_000011.10:74836074:C:T
Gene:: RNF169 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.74836075C>T, NC_000011.9:g.74547120C>T, XM_011544889.4:c.1535C>T, XM_011544889.3:c.1535C>T, XM_011544889.2:c.1535C>T, XM_011544889.1:c.1535C>T, NM_001098638.2:c.1472C>T, NM_001098638.1:c.1472C>T, XM_047426707.1:c.806C>T, XP_011543191.1:p.Ser512Phe, NP_001092108.1:p.Ser491Phe, XP_047282663.1:p.Ser269Phe

Select item 147408562617.

rs1474085626 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:74749018 (GRCh38)
11:74460063 (GRCh37)
Canonical SPDI:: NC_000011.10:74749017:G:A,NC_000011.10:74749017:G:T
Gene:: RNF169 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.74749018G>A, NC_000011.10:g.74749018G>T, NC_000011.9:g.74460063G>A, NC_000011.9:g.74460063G>T, XM_011544889.4:c.138G>A, XM_011544889.4:c.138G>T, XM_011544889.3:c.138G>A, XM_011544889.3:c.138G>T, XM_011544889.2:c.138G>A, XM_011544889.2:c.138G>T, XM_011544889.1:c.138G>A, XM_011544889.1:c.138G>T, NM_001098638.2:c.138G>A, NM_001098638.2:c.138G>T, NM_001098638.1:c.138G>A, NM_001098638.1:c.138G>T

Select item 147398152318.

rs1473981523 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:74748895 (GRCh38)
11:74459940 (GRCh37)
Canonical SPDI:: NC_000011.10:74748894:T:G
Gene:: RNF169 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.74748895T>G, NC_000011.9:g.74459940T>G, XM_011544889.4:c.15T>G, XM_011544889.3:c.15T>G, XM_011544889.2:c.15T>G, XM_011544889.1:c.15T>G, NM_001098638.2:c.15T>G, NM_001098638.1:c.15T>G

Select item 147361473619.

rs1473614736 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:74810264 (GRCh38)
11:74521309 (GRCh37)
Canonical SPDI:: NC_000011.10:74810263:G:A,NC_000011.10:74810263:G:C
Gene:: RNF169 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,synonymous_variant
HGVS:: NC_000011.10:g.74810264G>A, NC_000011.10:g.74810264G>C, NC_000011.9:g.74521309G>A, NC_000011.9:g.74521309G>C, XM_011544889.4:c.720G>A, XM_011544889.4:c.720G>C, XM_011544889.3:c.720G>A, XM_011544889.3:c.720G>C, XM_011544889.2:c.720G>A, XM_011544889.2:c.720G>C, XM_011544889.1:c.720G>A, XM_011544889.1:c.720G>C, NM_001098638.2:c.657G>A, NM_001098638.2:c.657G>C, NM_001098638.1:c.657G>A, NM_001098638.1:c.657G>C, XM_047426707.1:c.-10G>A, XM_047426707.1:c.-10G>C

Select item 147167607820.

rs1471676078 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 11:74836715 (GRCh38)
11:74547760 (GRCh37)
Canonical SPDI:: NC_000011.10:74836714:G:C,NC_000011.10:74836714:G:T
Gene:: RNF169 (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)
C=0.000007/1 (GnomAD)
C=0.000016/4 (GnomAD_exomes)
C=0.000177/3 (TOMMO)
C=0.000546/1 (Korea1K)
HGVS:: NC_000011.10:g.74836715G>C, NC_000011.10:g.74836715G>T, NC_000011.9:g.74547760G>C, NC_000011.9:g.74547760G>T, XM_011544889.4:c.2175G>C, XM_011544889.4:c.2175G>T, XM_011544889.3:c.2175G>C, XM_011544889.3:c.2175G>T, XM_011544889.2:c.2175G>C, XM_011544889.2:c.2175G>T, XM_011544889.1:c.2175G>C, XM_011544889.1:c.2175G>T, NM_001098638.2:c.2112G>C, NM_001098638.2:c.2112G>T, NM_001098638.1:c.2112G>C, NM_001098638.1:c.2112G>T, XM_047426707.1:c.1446G>C, XM_047426707.1:c.1446G>T, XP_011543191.1:p.Met725Ile, XP_011543191.1:p.Met725Ile, NP_001092108.1:p.Met704Ile, NP_001092108.1:p.Met704Ile, XP_047282663.1:p.Met482Ile, XP_047282663.1:p.Met482Ile

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