SNP Links for Protein (Select 5453690) - SNP

Links from Protein

Items: 1 to 20 of 453

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Select item 14901954441.

rs1490195444 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:14518226 (GRCh38)
19:14629038 (GRCh37)
Canonical SPDI:: NC_000019.10:14518225:C:T
Gene:: DNAJB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.14518226C>T, NC_000019.9:g.14629038C>T, NM_006145.3:c.124G>A, NM_006145.2:c.124G>A, NM_006145.1:c.124G>A, NP_006136.1:p.Glu42Lys

Select item 14862203622.

rs1486220362 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:14516507 (GRCh38)
19:14627319 (GRCh37)
Canonical SPDI:: NC_000019.10:14516506:C:T
Gene:: DNAJB1 (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.14516507C>T, NC_000019.9:g.14627319C>T, XM_011527956.4:c.451G>A, XM_011527956.3:c.451G>A, XM_011527956.2:c.451G>A, XM_011527956.1:c.451G>A, NM_006145.3:c.751G>A, NM_006145.2:c.751G>A, NM_006145.1:c.751G>A, XM_006722733.3:c.451G>A, XM_006722733.2:c.451G>A, XM_006722733.1:c.451G>A, NM_001300914.2:c.451G>A, NM_001300914.1:c.451G>A, NM_001313964.2:c.451G>A, NM_001313964.1:c.451G>A, XM_047438745.1:c.451G>A, XM_047438746.1:c.451G>A, XP_011526258.1:p.Gly151Ser, NP_006136.1:p.Gly251Ser, XP_006722796.1:p.Gly151Ser, NP_001287843.1:p.Gly151Ser, NP_001300893.1:p.Gly151Ser, XP_047294701.1:p.Gly151Ser, XP_047294702.1:p.Gly151Ser

Select item 14839701083.

rs1483970108 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:14518184 (GRCh38)
19:14628996 (GRCh37)
Canonical SPDI:: NC_000019.10:14518183:T:C
Gene:: DNAJB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.14518184T>C, NC_000019.9:g.14628996T>C, NM_006145.3:c.166A>G, NM_006145.2:c.166A>G, NM_006145.1:c.166A>G, NP_006136.1:p.Ser56Gly

Select item 14832098514.

rs1483209851 [Homo sapiens]

Variant type:: INS
Alleles:: ->CTTCTTT [Show Flanks]
Chromosome:: 19:14518259 (GRCh38)
19:14629072 (GRCh37)
Canonical SPDI:: NC_000019.10:14518259::CTTCTTT
Gene:: DNAJB1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
HGVS:: NC_000019.10:g.14518259_14518260insCTTCTTT, NC_000019.9:g.14629071_14629072insCTTCTTT, NM_006145.3:c.90_91insAAAGAAG, NM_006145.2:c.90_91insAAAGAAG, NM_006145.1:c.90_91insAAAGAAG, NP_006136.1:p.Tyr31fs

Select item 14831890565.

rs1483189056 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:14516087 (GRCh38)
19:14626899 (GRCh37)
Canonical SPDI:: NC_000019.10:14516086:G:A
Gene:: DNAJB1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.14516087G>A, NC_000019.9:g.14626899G>A, XM_011527956.4:c.576C>T, XM_011527956.3:c.576C>T, XM_011527956.2:c.576C>T, XM_011527956.1:c.576C>T, NM_006145.3:c.876C>T, NM_006145.2:c.876C>T, NM_006145.1:c.876C>T, XM_006722733.3:c.576C>T, XM_006722733.2:c.576C>T, XM_006722733.1:c.576C>T, NM_001300914.2:c.576C>T, NM_001300914.1:c.576C>T, NM_001313964.2:c.576C>T, NM_001313964.1:c.576C>T, XM_047438745.1:c.576C>T, XM_047438746.1:c.576C>T

Select item 14831154696.

rs1483115469 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:14516986 (GRCh38)
19:14627798 (GRCh37)
Canonical SPDI:: NC_000019.10:14516985:C:T
Gene:: DNAJB1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.14516986C>T, NC_000019.9:g.14627798C>T, XM_011527956.4:c.-29G>A, XM_011527956.3:c.-29G>A, XM_011527956.2:c.-29G>A, XM_011527956.1:c.-29G>A, NM_006145.3:c.272G>A, NM_006145.2:c.272G>A, NM_006145.1:c.272G>A, XM_006722733.3:c.-29G>A, XM_006722733.2:c.-29G>A, XM_006722733.1:c.-29G>A, NM_001300914.2:c.-29G>A, NM_001300914.1:c.-29G>A, NM_001313964.2:c.-29G>A, NM_001313964.1:c.-29G>A, XM_047438745.1:c.-29G>A, XM_047438746.1:c.-29G>A, NP_006136.1:p.Ser91Asn

Select item 14800472847.

rs1480047284 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:14516025 (GRCh38)
19:14626837 (GRCh37)
Canonical SPDI:: NC_000019.10:14516024:T:A
Gene:: DNAJB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000019.10:g.14516025T>A, NC_000019.9:g.14626837T>A, XM_011527956.4:c.638A>T, XM_011527956.3:c.638A>T, XM_011527956.2:c.638A>T, XM_011527956.1:c.638A>T, NM_006145.3:c.938A>T, NM_006145.2:c.938A>T, NM_006145.1:c.938A>T, XM_006722733.3:c.638A>T, XM_006722733.2:c.638A>T, XM_006722733.1:c.638A>T, NM_001300914.2:c.638A>T, NM_001300914.1:c.638A>T, NM_001313964.2:c.638A>T, NM_001313964.1:c.638A>T, XM_047438745.1:c.638A>T, XM_047438746.1:c.638A>T, XP_011526258.1:p.Asp213Val, NP_006136.1:p.Asp313Val, XP_006722796.1:p.Asp213Val, NP_001287843.1:p.Asp213Val, NP_001300893.1:p.Asp213Val, XP_047294701.1:p.Asp213Val, XP_047294702.1:p.Asp213Val

Select item 14774634758.

rs1477463475 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:14518235 (GRCh38)
19:14629047 (GRCh37)
Canonical SPDI:: NC_000019.10:14518234:G:A,NC_000019.10:14518234:G:C
Gene:: DNAJB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.14518235G>A, NC_000019.10:g.14518235G>C, NC_000019.9:g.14629047G>A, NC_000019.9:g.14629047G>C, NM_006145.3:c.115C>T, NM_006145.3:c.115C>G, NM_006145.2:c.115C>T, NM_006145.2:c.115C>G, NM_006145.1:c.115C>T, NM_006145.1:c.115C>G, NP_006136.1:p.Pro39Ser, NP_006136.1:p.Pro39Ala

Select item 14772803259.

rs1477280325 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:14516595 (GRCh38)
19:14627407 (GRCh37)
Canonical SPDI:: NC_000019.10:14516594:G:A
Gene:: DNAJB1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.14516595G>A, NC_000019.9:g.14627407G>A, XM_011527956.4:c.363C>T, XM_011527956.3:c.363C>T, XM_011527956.2:c.363C>T, XM_011527956.1:c.363C>T, NM_006145.3:c.663C>T, NM_006145.2:c.663C>T, NM_006145.1:c.663C>T, XM_006722733.3:c.363C>T, XM_006722733.2:c.363C>T, XM_006722733.1:c.363C>T, NM_001300914.2:c.363C>T, NM_001300914.1:c.363C>T, NM_001313964.2:c.363C>T, NM_001313964.1:c.363C>T, XM_047438745.1:c.363C>T, XM_047438746.1:c.363C>T

Select item 147251377410.

rs1472513774 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:14518343 (GRCh38)
19:14629155 (GRCh37)
Canonical SPDI:: NC_000019.10:14518342:T:C
Gene:: DNAJB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.0003/1 (KOREAN)
HGVS:: NC_000019.10:g.14518343T>C, NC_000019.9:g.14629155T>C, NM_006145.3:c.7A>G, NM_006145.2:c.7A>G, NM_006145.1:c.7A>G, NP_006136.1:p.Lys3Glu

Select item 147166434611.

rs1471664346 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:14516947 (GRCh38)
19:14627759 (GRCh37)
Canonical SPDI:: NC_000019.10:14516946:T:G
Gene:: DNAJB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.14516947T>G, NC_000019.9:g.14627759T>G, XM_011527956.4:c.11A>C, XM_011527956.3:c.11A>C, XM_011527956.2:c.11A>C, XM_011527956.1:c.11A>C, NM_006145.3:c.311A>C, NM_006145.2:c.311A>C, NM_006145.1:c.311A>C, XM_006722733.3:c.11A>C, XM_006722733.2:c.11A>C, XM_006722733.1:c.11A>C, NM_001300914.2:c.11A>C, NM_001300914.1:c.11A>C, NM_001313964.2:c.11A>C, NM_001313964.1:c.11A>C, XM_047438745.1:c.11A>C, XM_047438746.1:c.11A>C, XP_011526258.1:p.Glu4Ala, NP_006136.1:p.Glu104Ala, XP_006722796.1:p.Glu4Ala, NP_001287843.1:p.Glu4Ala, NP_001300893.1:p.Glu4Ala, XP_047294701.1:p.Glu4Ala, XP_047294702.1:p.Glu4Ala

Select item 147153227712.

rs1471532277 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:14517036 (GRCh38)
19:14627848 (GRCh37)
Canonical SPDI:: NC_000019.10:14517035:C:T
Gene:: DNAJB1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.14517036C>T, NC_000019.9:g.14627848C>T, XM_011527956.4:c.-79G>A, XM_011527956.3:c.-79G>A, XM_011527956.2:c.-79G>A, XM_011527956.1:c.-79G>A, NM_006145.3:c.222G>A, NM_006145.2:c.222G>A, NM_006145.1:c.222G>A, XM_006722733.3:c.-79G>A, XM_006722733.2:c.-79G>A, XM_006722733.1:c.-79G>A, NM_001300914.2:c.-79G>A, NM_001300914.1:c.-79G>A, NM_001313964.2:c.-79G>A, NM_001313964.1:c.-79G>A, XM_047438745.1:c.-79G>A, XM_047438746.1:c.-79G>A

Select item 146466212913.

rs1464662129 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:14516588 (GRCh38)
19:14627400 (GRCh37)
Canonical SPDI:: NC_000019.10:14516587:C:T
Gene:: DNAJB1 (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=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.14516588C>T, NC_000019.9:g.14627400C>T, XM_011527956.4:c.370G>A, XM_011527956.3:c.370G>A, XM_011527956.2:c.370G>A, XM_011527956.1:c.370G>A, NM_006145.3:c.670G>A, NM_006145.2:c.670G>A, NM_006145.1:c.670G>A, XM_006722733.3:c.370G>A, XM_006722733.2:c.370G>A, XM_006722733.1:c.370G>A, NM_001300914.2:c.370G>A, NM_001300914.1:c.370G>A, NM_001313964.2:c.370G>A, NM_001313964.1:c.370G>A, XM_047438745.1:c.370G>A, XM_047438746.1:c.370G>A, XP_011526258.1:p.Gly124Arg, NP_006136.1:p.Gly224Arg, XP_006722796.1:p.Gly124Arg, NP_001287843.1:p.Gly124Arg, NP_001300893.1:p.Gly124Arg, XP_047294701.1:p.Gly124Arg, XP_047294702.1:p.Gly124Arg

Select item 145972771114.

rs1459727711 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:14516144 (GRCh38)
19:14626956 (GRCh37)
Canonical SPDI:: NC_000019.10:14516143:G:A,NC_000019.10:14516143:G:C
Gene:: DNAJB1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000019.10:g.14516144G>A, NC_000019.10:g.14516144G>C, NC_000019.9:g.14626956G>A, NC_000019.9:g.14626956G>C, XM_011527956.4:c.519C>T, XM_011527956.4:c.519C>G, XM_011527956.3:c.519C>T, XM_011527956.3:c.519C>G, XM_011527956.2:c.519C>T, XM_011527956.2:c.519C>G, XM_011527956.1:c.519C>T, XM_011527956.1:c.519C>G, NM_006145.3:c.819C>T, NM_006145.3:c.819C>G, NM_006145.2:c.819C>T, NM_006145.2:c.819C>G, NM_006145.1:c.819C>T, NM_006145.1:c.819C>G, XM_006722733.3:c.519C>T, XM_006722733.3:c.519C>G, XM_006722733.2:c.519C>T, XM_006722733.2:c.519C>G, XM_006722733.1:c.519C>T, XM_006722733.1:c.519C>G, NM_001300914.2:c.519C>T, NM_001300914.2:c.519C>G, NM_001300914.1:c.519C>T, NM_001300914.1:c.519C>G, NM_001313964.2:c.519C>T, NM_001313964.2:c.519C>G, NM_001313964.1:c.519C>T, NM_001313964.1:c.519C>G, XM_047438745.1:c.519C>T, XM_047438745.1:c.519C>G, XM_047438746.1:c.519C>T, XM_047438746.1:c.519C>G

Select item 145881881615.

rs1458818816 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:14518309 (GRCh38)
19:14629121 (GRCh37)
Canonical SPDI:: NC_000019.10:14518308:C:T
Gene:: DNAJB1 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_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_000019.10:g.14518309C>T, NC_000019.9:g.14629121C>T, NM_006145.3:c.41G>A, NM_006145.2:c.41G>A, NM_006145.1:c.41G>A, NP_006136.1:p.Gly14Asp

Select item 145484639716.

rs1454846397 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:14516153 (GRCh38)
19:14626965 (GRCh37)
Canonical SPDI:: NC_000019.10:14516152:T:A
Gene:: DNAJB1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.14516153T>A, NC_000019.9:g.14626965T>A, XM_011527956.4:c.510A>T, XM_011527956.3:c.510A>T, XM_011527956.2:c.510A>T, XM_011527956.1:c.510A>T, NM_006145.3:c.810A>T, NM_006145.2:c.810A>T, NM_006145.1:c.810A>T, XM_006722733.3:c.510A>T, XM_006722733.2:c.510A>T, XM_006722733.1:c.510A>T, NM_001300914.2:c.510A>T, NM_001300914.1:c.510A>T, NM_001313964.2:c.510A>T, NM_001313964.1:c.510A>T, XM_047438745.1:c.510A>T, XM_047438746.1:c.510A>T

Select item 145173151817.

rs1451731518 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:14518302 (GRCh38)
19:14629114 (GRCh37)
Canonical SPDI:: NC_000019.10:14518301:C:T
Gene:: DNAJB1 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000019.10:g.14518302C>T, NC_000019.9:g.14629114C>T, NM_006145.3:c.48G>A, NM_006145.2:c.48G>A, NM_006145.1:c.48G>A

Select item 145072364518.

rs1450723645 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:14518295 (GRCh38)
19:14629107 (GRCh37)
Canonical SPDI:: NC_000019.10:14518294:C:T
Gene:: DNAJB1 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.14518295C>T, NC_000019.9:g.14629107C>T, NM_006145.3:c.55G>A, NM_006145.2:c.55G>A, NM_006145.1:c.55G>A, NP_006136.1:p.Glu19Lys

Select item 144540584619.

rs1445405846 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 19:14518313 (GRCh38)
19:14629125 (GRCh37)
Canonical SPDI:: NC_000019.10:14518312:GGG:GG
Gene:: DNAJB1 (Varview)
Functional Consequence:: upstream_transcript_variant,frameshift_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.14518315del, NC_000019.9:g.14629127del, NM_006145.3:c.37del, NM_006145.2:c.37del, NM_006145.1:c.37del, NP_006136.1:p.Arg13fs

Select item 144046573920.

rs1440465739 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:14518179 (GRCh38)
19:14628991 (GRCh37)
Canonical SPDI:: NC_000019.10:14518178:G:A
Gene:: DNAJB1 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant,synonymous_variant
Validated:: by cluster
HGVS:: NC_000019.10:g.14518179G>A, NC_000019.9:g.14628991G>A, NM_006145.3:c.171C>T, NM_006145.2:c.171C>T, NM_006145.1:c.171C>T

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