SNP Links for Protein (Select 5803163) - SNP

Links from Protein

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Select item 14894413511.

rs1489441351 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:82698480 (GRCh38)
17:80656356 (GRCh37)
Canonical SPDI:: NC_000017.11:82698479:G:C
Gene:: RAB40B (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.00001/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.82698480G>C, NC_000017.10:g.80656356G>C, NM_006822.3:c.117C>G, NM_006822.2:c.117C>G, XM_047435172.1:c.117C>G

Select item 14883317882.

rs1488331788 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:82658698 (GRCh38)
17:80616574 (GRCh37)
Canonical SPDI:: NC_000017.11:82658697:G:A
Gene:: RAB40B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.82658698G>A, NC_000017.10:g.80616574G>A, XM_006722271.4:c.238C>T, XM_006722271.3:c.238C>T, XM_006722271.2:c.238C>T, XM_006722271.1:c.238C>T, NM_006822.3:c.358C>T, NM_006822.2:c.358C>T, XM_011523528.3:c.307C>T, XM_011523528.2:c.307C>T, XM_011523528.1:c.307C>T, XM_017024042.2:c.178C>T, XM_017024042.1:c.178C>T, XP_006722334.1:p.Pro80Ser, NP_006813.1:p.Pro120Ser, XP_011521830.1:p.Pro103Ser, XP_016879531.1:p.Pro60Ser

Select item 14873886753.

rs1487388675 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:82658702 (GRCh38)
17:80616578 (GRCh37)
Canonical SPDI:: NC_000017.11:82658701:T:G
Gene:: RAB40B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
T=0.5/1 (SGDP_PRJ)
HGVS:: NC_000017.11:g.82658702T>G, NC_000017.10:g.80616578T>G, XM_006722271.4:c.234A>C, XM_006722271.3:c.234A>C, XM_006722271.2:c.234A>C, XM_006722271.1:c.234A>C, NM_006822.3:c.354A>C, NM_006822.2:c.354A>C, XM_011523528.3:c.303A>C, XM_011523528.2:c.303A>C, XM_011523528.1:c.303A>C, XM_017024042.2:c.174A>C, XM_017024042.1:c.174A>C

Select item 14853299414.

rs1485329941 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:82658027 (GRCh38)
17:80615903 (GRCh37)
Canonical SPDI:: NC_000017.11:82658026:A:G
Gene:: RAB40B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.82658027A>G, NC_000017.10:g.80615903A>G, XM_006722271.4:c.553T>C, XM_006722271.3:c.553T>C, XM_006722271.2:c.553T>C, XM_006722271.1:c.553T>C, NM_006822.3:c.673T>C, NM_006822.2:c.673T>C, XM_011523528.3:c.622T>C, XM_011523528.2:c.622T>C, XM_011523528.1:c.622T>C, XM_017024042.2:c.493T>C, XM_017024042.1:c.493T>C, XP_006722334.1:p.Phe185Leu, NP_006813.1:p.Phe225Leu, XP_011521830.1:p.Phe208Leu, XP_016879531.1:p.Phe165Leu

Select item 14849760815.

rs1484976081 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:82658622 (GRCh38)
17:80616498 (GRCh37)
Canonical SPDI:: NC_000017.11:82658621:G:T
Gene:: RAB40B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.82658622G>T, NC_000017.10:g.80616498G>T, XM_006722271.4:c.314C>A, XM_006722271.3:c.314C>A, XM_006722271.2:c.314C>A, XM_006722271.1:c.314C>A, NM_006822.3:c.434C>A, NM_006822.2:c.434C>A, XM_011523528.3:c.383C>A, XM_011523528.2:c.383C>A, XM_011523528.1:c.383C>A, XM_017024042.2:c.254C>A, XM_017024042.1:c.254C>A, XP_006722334.1:p.Ala105Asp, NP_006813.1:p.Ala145Asp, XP_011521830.1:p.Ala128Asp, XP_016879531.1:p.Ala85Asp

Select item 14843469846.

rs1484346984 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:82658563 (GRCh38)
17:80616439 (GRCh37)
Canonical SPDI:: NC_000017.11:82658562:C:A
Gene:: RAB40B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.82658563C>A, NC_000017.10:g.80616439C>A, XM_006722271.4:c.373G>T, XM_006722271.3:c.373G>T, XM_006722271.2:c.373G>T, XM_006722271.1:c.373G>T, NM_006822.3:c.493G>T, NM_006822.2:c.493G>T, XM_011523528.3:c.442G>T, XM_011523528.2:c.442G>T, XM_011523528.1:c.442G>T, XM_017024042.2:c.313G>T, XM_017024042.1:c.313G>T, XP_006722334.1:p.Glu125Ter, NP_006813.1:p.Glu165Ter, XP_011521830.1:p.Glu148Ter, XP_016879531.1:p.Glu105Ter

Select item 14835412707.

rs1483541270 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:82659594 (GRCh38)
17:80617470 (GRCh37)
Canonical SPDI:: NC_000017.11:82659593:T:C
Gene:: RAB40B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,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)
HGVS:: NC_000017.11:g.82659594T>C, NC_000017.10:g.80617470T>C, XM_006722271.4:c.208A>G, XM_006722271.3:c.208A>G, XM_006722271.2:c.208A>G, XM_006722271.1:c.208A>G, NM_006822.3:c.328A>G, NM_006822.2:c.328A>G, XM_011523528.3:c.277A>G, XM_011523528.2:c.277A>G, XM_011523528.1:c.277A>G, XM_017024042.2:c.148A>G, XM_017024042.1:c.148A>G, XP_006722334.1:p.Lys70Glu, NP_006813.1:p.Lys110Glu, XP_011521830.1:p.Lys93Glu, XP_016879531.1:p.Lys50Glu

Select item 14800527558.

rs1480052755 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:82664498 (GRCh38)
17:80622374 (GRCh37)
Canonical SPDI:: NC_000017.11:82664497:G:A
Gene:: RAB40B (Varview)
Functional Consequence:: 5_prime_UTR_variant,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_000017.11:g.82664498G>A, NC_000017.10:g.80622374G>A, XM_006722271.4:c.81C>T, XM_006722271.3:c.81C>T, XM_006722271.2:c.81C>T, XM_006722271.1:c.81C>T, NM_006822.3:c.201C>T, NM_006822.2:c.201C>T, XM_011523528.3:c.150C>T, XM_011523528.2:c.150C>T, XM_011523528.1:c.150C>T, XM_017024042.2:c.-203C>T, XM_017024042.1:c.-203C>T, XM_047435172.1:c.201C>T

Select item 14795097679.

rs1479509767 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:82657956 (GRCh38)
17:80615832 (GRCh37)
Canonical SPDI:: NC_000017.11:82657955:G:A
Gene:: RAB40B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.82657956G>A, NC_000017.10:g.80615832G>A, XM_006722271.4:c.624C>T, XM_006722271.3:c.624C>T, XM_006722271.2:c.624C>T, XM_006722271.1:c.624C>T, NM_006822.3:c.744C>T, NM_006822.2:c.744C>T, XM_011523528.3:c.693C>T, XM_011523528.2:c.693C>T, XM_011523528.1:c.693C>T, XM_017024042.2:c.564C>T, XM_017024042.1:c.564C>T

Select item 147800762910.

rs1478007629 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:82661015 (GRCh38)
17:80618891 (GRCh37)
Canonical SPDI:: NC_000017.11:82661014:A:G
Gene:: RAB40B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.82661015A>G, NC_000017.10:g.80618891A>G, XM_006722271.4:c.116T>C, XM_006722271.3:c.116T>C, XM_006722271.2:c.116T>C, XM_006722271.1:c.116T>C, NM_006822.3:c.236T>C, NM_006822.2:c.236T>C, XM_011523528.3:c.185T>C, XM_011523528.2:c.185T>C, XM_011523528.1:c.185T>C, XM_017024042.2:c.56T>C, XM_017024042.1:c.56T>C, XP_006722334.1:p.Ile39Thr, NP_006813.1:p.Ile79Thr, XP_011521830.1:p.Ile62Thr, XP_016879531.1:p.Ile19Thr

Select item 147423476511.

rs1474234765 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:82658575 (GRCh38)
17:80616451 (GRCh37)
Canonical SPDI:: NC_000017.11:82658574:A:C
Gene:: RAB40B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.82658575A>C, NC_000017.10:g.80616451A>C, XM_006722271.4:c.361T>G, XM_006722271.3:c.361T>G, XM_006722271.2:c.361T>G, XM_006722271.1:c.361T>G, NM_006822.3:c.481T>G, NM_006822.2:c.481T>G, XM_011523528.3:c.430T>G, XM_011523528.2:c.430T>G, XM_011523528.1:c.430T>G, XM_017024042.2:c.301T>G, XM_017024042.1:c.301T>G, XP_006722334.1:p.Phe121Val, NP_006813.1:p.Phe161Val, XP_011521830.1:p.Phe144Val, XP_016879531.1:p.Phe101Val

Select item 147385461012.

rs1473854610 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:82658511 (GRCh38)
17:80616387 (GRCh37)
Canonical SPDI:: NC_000017.11:82658510:C:T
Gene:: RAB40B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.82658511C>T, NC_000017.10:g.80616387C>T, XM_006722271.4:c.425G>A, XM_006722271.3:c.425G>A, XM_006722271.2:c.425G>A, XM_006722271.1:c.425G>A, NM_006822.3:c.545G>A, NM_006822.2:c.545G>A, XM_011523528.3:c.494G>A, XM_011523528.2:c.494G>A, XM_011523528.1:c.494G>A, XM_017024042.2:c.365G>A, XM_017024042.1:c.365G>A, XP_006722334.1:p.Arg142Gln, NP_006813.1:p.Arg182Gln, XP_011521830.1:p.Arg165Gln, XP_016879531.1:p.Arg122Gln

Select item 147228147013.

rs1472281470 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:82698570 (GRCh38)
17:80656446 (GRCh37)
Canonical SPDI:: NC_000017.11:82698569:C:T
Gene:: RAB40B (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.82698570C>T, NC_000017.10:g.80656446C>T, NM_006822.3:c.27G>A, NM_006822.2:c.27G>A, XM_047435172.1:c.27G>A

Select item 146561629114.

rs1465616291 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 17:82661046 (GRCh38)
17:80618922 (GRCh37)
Canonical SPDI:: NC_000017.11:82661045:CCC:CC
Gene:: RAB40B (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,splice_acceptor_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.82661048del, NC_000017.10:g.80618924del, XM_017024042.2:c.25del, XM_017024042.1:c.25del, XP_016879531.1:p.Asp9fs

Select item 146499356615.

rs1464993566 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:82698540 (GRCh38)
17:80656416 (GRCh37)
Canonical SPDI:: NC_000017.11:82698539:C:A,NC_000017.11:82698539:C:T
Gene:: RAB40B (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0./0 (SGDP_PRJ)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.82698540C>A, NC_000017.11:g.82698540C>T, NC_000017.10:g.80656416C>A, NC_000017.10:g.80656416C>T, NM_006822.3:c.57G>T, NM_006822.3:c.57G>A, NM_006822.2:c.57G>T, NM_006822.2:c.57G>A, XM_047435172.1:c.57G>T, XM_047435172.1:c.57G>A

Select item 146451723616.

rs1464517236 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:82658023 (GRCh38)
17:80615899 (GRCh37)
Canonical SPDI:: NC_000017.11:82658022:G:A,NC_000017.11:82658022:G:C
Gene:: RAB40B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.82658023G>A, NC_000017.11:g.82658023G>C, NC_000017.10:g.80615899G>A, NC_000017.10:g.80615899G>C, XM_006722271.4:c.557C>T, XM_006722271.4:c.557C>G, XM_006722271.3:c.557C>T, XM_006722271.3:c.557C>G, XM_006722271.2:c.557C>T, XM_006722271.2:c.557C>G, XM_006722271.1:c.557C>T, XM_006722271.1:c.557C>G, NM_006822.3:c.677C>T, NM_006822.3:c.677C>G, NM_006822.2:c.677C>T, NM_006822.2:c.677C>G, XM_011523528.3:c.626C>T, XM_011523528.3:c.626C>G, XM_011523528.2:c.626C>T, XM_011523528.2:c.626C>G, XM_011523528.1:c.626C>T, XM_011523528.1:c.626C>G, XM_017024042.2:c.497C>T, XM_017024042.2:c.497C>G, XM_017024042.1:c.497C>T, XM_017024042.1:c.497C>G, XP_006722334.1:p.Ser186Leu, XP_006722334.1:p.Ser186Trp, NP_006813.1:p.Ser226Leu, NP_006813.1:p.Ser226Trp, XP_011521830.1:p.Ser209Leu, XP_011521830.1:p.Ser209Trp, XP_016879531.1:p.Ser166Leu, XP_016879531.1:p.Ser166Trp

Select item 145973067217.

rs1459730672 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:82658029 (GRCh38)
17:80615905 (GRCh37)
Canonical SPDI:: NC_000017.11:82658028:G:A
Gene:: RAB40B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_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_000017.11:g.82658029G>A, NC_000017.10:g.80615905G>A, XM_006722271.4:c.551C>T, XM_006722271.3:c.551C>T, XM_006722271.2:c.551C>T, XM_006722271.1:c.551C>T, NM_006822.3:c.671C>T, NM_006822.2:c.671C>T, XM_011523528.3:c.620C>T, XM_011523528.2:c.620C>T, XM_011523528.1:c.620C>T, XM_017024042.2:c.491C>T, XM_017024042.1:c.491C>T, XP_006722334.1:p.Ser184Phe, NP_006813.1:p.Ser224Phe, XP_011521830.1:p.Ser207Phe, XP_016879531.1:p.Ser164Phe

Select item 145092807318.

rs1450928073 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:82698590 (GRCh38)
17:80656466 (GRCh37)
Canonical SPDI:: NC_000017.11:82698589:C:T
Gene:: RAB40B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.82698590C>T, NC_000017.10:g.80656466C>T, NM_006822.3:c.7G>A, NM_006822.2:c.7G>A, XM_047435172.1:c.7G>A, NP_006813.1:p.Ala3Thr, XP_047291128.1:p.Ala3Thr

Select item 145031690519.

rs1450316905 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:82658713 (GRCh38)
17:80616589 (GRCh37)
Canonical SPDI:: NC_000017.11:82658712:G:A
Gene:: RAB40B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.82658713G>A, NC_000017.10:g.80616589G>A, XM_006722271.4:c.223C>T, XM_006722271.3:c.223C>T, XM_006722271.2:c.223C>T, XM_006722271.1:c.223C>T, NM_006822.3:c.343C>T, NM_006822.2:c.343C>T, XM_011523528.3:c.292C>T, XM_011523528.2:c.292C>T, XM_011523528.1:c.292C>T, XM_017024042.2:c.163C>T, XM_017024042.1:c.163C>T, XP_006722334.1:p.His75Tyr, NP_006813.1:p.His115Tyr, XP_011521830.1:p.His98Tyr, XP_016879531.1:p.His55Tyr

Select item 144803698820.

rs1448036988 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:82657981 (GRCh38)
17:80615857 (GRCh37)
Canonical SPDI:: NC_000017.11:82657980:G:T
Gene:: RAB40B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.82657981G>T, NC_000017.10:g.80615857G>T, XM_006722271.4:c.599C>A, XM_006722271.3:c.599C>A, XM_006722271.2:c.599C>A, XM_006722271.1:c.599C>A, NM_006822.3:c.719C>A, NM_006822.2:c.719C>A, XM_011523528.3:c.668C>A, XM_011523528.2:c.668C>A, XM_011523528.1:c.668C>A, XM_017024042.2:c.539C>A, XM_017024042.1:c.539C>A, XP_006722334.1:p.Ser200Tyr, NP_006813.1:p.Ser240Tyr, XP_011521830.1:p.Ser223Tyr, XP_016879531.1:p.Ser180Tyr

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