SNP Links for Protein (Select 108860690) - SNP

Links from Protein

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Select item 14901298261.

rs1490129826 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:89709862 (GRCh38)
16:89776270 (GRCh37)
Canonical SPDI:: NC_000016.10:89709861:T:C
Gene:: VPS9D1 (Varview), VPS9D1-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_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_000016.10:g.89709862T>C, NC_000016.9:g.89776270T>C, XM_005256329.6:c.1306A>G, XM_005256329.5:c.1306A>G, XM_005256329.4:c.1306A>G, XM_005256329.3:c.1306A>G, XM_005256329.2:c.1306A>G, XM_005256329.1:c.1306A>G, XM_011523476.4:c.1303A>G, XM_011523476.3:c.1303A>G, XM_011523476.2:c.1303A>G, XM_011523476.1:c.1303A>G, NM_004913.3:c.1303A>G, NM_004913.2:c.1303A>G, XM_047434937.1:c.1135A>G, XM_047434930.1:c.1345A>G, XM_047434931.1:c.1342A>G, XM_047434932.1:c.1300A>G, XM_047434935.1:c.1345A>G, XM_047434933.1:c.1243A>G, XM_047434934.1:c.1240A>G, XM_047434936.1:c.1303A>G, XP_005256386.1:p.Thr436Ala, XP_011521778.1:p.Thr435Ala, NP_004904.2:p.Thr435Ala, XP_047290893.1:p.Thr379Ala, XP_047290886.1:p.Thr449Ala, XP_047290887.1:p.Thr448Ala, XP_047290888.1:p.Thr434Ala, XP_047290891.1:p.Thr449Ala, XP_047290889.1:p.Thr415Ala, XP_047290890.1:p.Thr414Ala, XP_047290892.1:p.Thr435Ala

Select item 14869009242.

rs1486900924 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 16:89716751 (GRCh38)
16:89783159 (GRCh37)
Canonical SPDI:: NC_000016.10:89716750:G:A,NC_000016.10:89716750:G:T
Gene:: VPS9D1 (Varview), VPS9D1-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,stop_gained,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000016.10:g.89716751G>A, NC_000016.10:g.89716751G>T, NC_000016.9:g.89783159G>A, NC_000016.9:g.89783159G>T, XM_005256329.6:c.247C>T, XM_005256329.6:c.247C>A, XM_005256329.5:c.247C>T, XM_005256329.5:c.247C>A, XM_005256329.4:c.247C>T, XM_005256329.4:c.247C>A, XM_005256329.3:c.247C>T, XM_005256329.3:c.247C>A, XM_005256329.2:c.247C>T, XM_005256329.2:c.247C>A, XM_005256329.1:c.247C>T, XM_005256329.1:c.247C>A, XM_011523476.4:c.244C>T, XM_011523476.4:c.244C>A, XM_011523476.3:c.244C>T, XM_011523476.3:c.244C>A, XM_011523476.2:c.244C>T, XM_011523476.2:c.244C>A, XM_011523476.1:c.244C>T, XM_011523476.1:c.244C>A, NM_004913.3:c.247C>T, NM_004913.3:c.247C>A, NM_004913.2:c.247C>T, NM_004913.2:c.247C>A, XM_047434937.1:c.37C>T, XM_047434937.1:c.37C>A, XM_047434930.1:c.247C>T, XM_047434930.1:c.247C>A, XM_047434931.1:c.244C>T, XM_047434931.1:c.244C>A, XM_047434932.1:c.244C>T, XM_047434932.1:c.244C>A, XM_047434935.1:c.247C>T, XM_047434935.1:c.247C>A, XM_047434933.1:c.145C>T, XM_047434933.1:c.145C>A, XM_047434934.1:c.142C>T, XM_047434934.1:c.142C>A, XM_047434936.1:c.247C>T, XM_047434936.1:c.247C>A, NR_036480.1:n.778G>A, NR_036480.1:n.778G>T, XP_005256386.1:p.Gln83Ter, XP_005256386.1:p.Gln83Lys, XP_011521778.1:p.Gln82Ter, XP_011521778.1:p.Gln82Lys, NP_004904.2:p.Gln83Ter, NP_004904.2:p.Gln83Lys, XP_047290893.1:p.Gln13Ter, XP_047290893.1:p.Gln13Lys, XP_047290886.1:p.Gln83Ter, XP_047290886.1:p.Gln83Lys, XP_047290887.1:p.Gln82Ter, XP_047290887.1:p.Gln82Lys, XP_047290888.1:p.Gln82Ter, XP_047290888.1:p.Gln82Lys, XP_047290891.1:p.Gln83Ter, XP_047290891.1:p.Gln83Lys, XP_047290889.1:p.Gln49Ter, XP_047290889.1:p.Gln49Lys, XP_047290890.1:p.Gln48Ter, XP_047290890.1:p.Gln48Lys, XP_047290892.1:p.Gln83Ter, XP_047290892.1:p.Gln83Lys

Select item 14860697153.

rs1486069715 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:89708481 (GRCh38)
16:89774889 (GRCh37)
Canonical SPDI:: NC_000016.10:89708480:C:T
Gene:: VPS9D1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.89708481C>T, NC_000016.9:g.89774889C>T, XM_005256329.6:c.1751G>A, XM_005256329.5:c.1751G>A, XM_005256329.4:c.1751G>A, XM_005256329.3:c.1751G>A, XM_005256329.2:c.1751G>A, XM_005256329.1:c.1751G>A, XM_011523476.4:c.1748G>A, XM_011523476.3:c.1748G>A, XM_011523476.2:c.1748G>A, XM_011523476.1:c.1748G>A, NM_004913.3:c.1748G>A, NM_004913.2:c.1748G>A, XM_047434937.1:c.1580G>A, XM_047434930.1:c.1790G>A, XM_047434931.1:c.1787G>A, XM_047434932.1:c.1745G>A, XM_047434933.1:c.1688G>A, XM_047434934.1:c.1685G>A, XP_005256386.1:p.Gly584Asp, XP_011521778.1:p.Gly583Asp, NP_004904.2:p.Gly583Asp, XP_047290893.1:p.Gly527Asp, XP_047290886.1:p.Gly597Asp, XP_047290887.1:p.Gly596Asp, XP_047290888.1:p.Gly582Asp, XP_047290889.1:p.Gly563Asp, XP_047290890.1:p.Gly562Asp

Select item 14855061564.

rs1485506156 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:89710667 (GRCh38)
16:89777075 (GRCh37)
Canonical SPDI:: NC_000016.10:89710666:G:A
Gene:: VPS9D1 (Varview), VPS9D1-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,stop_gained,2KB_upstream_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.89710667G>A, NC_000016.9:g.89777075G>A, XM_005256329.6:c.1177C>T, XM_005256329.5:c.1177C>T, XM_005256329.4:c.1177C>T, XM_005256329.3:c.1177C>T, XM_005256329.2:c.1177C>T, XM_005256329.1:c.1177C>T, XM_011523476.4:c.1174C>T, XM_011523476.3:c.1174C>T, XM_011523476.2:c.1174C>T, XM_011523476.1:c.1174C>T, NM_004913.3:c.1177C>T, NM_004913.2:c.1177C>T, XM_047434937.1:c.967C>T, XM_047434930.1:c.1177C>T, XM_047434931.1:c.1174C>T, XM_047434932.1:c.1174C>T, XM_047434935.1:c.1177C>T, XM_047434933.1:c.1075C>T, XM_047434934.1:c.1072C>T, XM_047434936.1:c.1177C>T, XP_005256386.1:p.Gln393Ter, XP_011521778.1:p.Gln392Ter, NP_004904.2:p.Gln393Ter, XP_047290893.1:p.Gln323Ter, XP_047290886.1:p.Gln393Ter, XP_047290887.1:p.Gln392Ter, XP_047290888.1:p.Gln392Ter, XP_047290891.1:p.Gln393Ter, XP_047290889.1:p.Gln359Ter, XP_047290890.1:p.Gln358Ter, XP_047290892.1:p.Gln393Ter

Select item 14831984835.

rs1483198483 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:89712470 (GRCh38)
16:89778878 (GRCh37)
Canonical SPDI:: NC_000016.10:89712469:C:T
Gene:: VPS9D1 (Varview), VPS9D1-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.89712470C>T, NC_000016.9:g.89778878C>T, XM_005256329.6:c.596G>A, XM_005256329.5:c.596G>A, XM_005256329.4:c.596G>A, XM_005256329.3:c.596G>A, XM_005256329.2:c.596G>A, XM_005256329.1:c.596G>A, XM_011523476.4:c.593G>A, XM_011523476.3:c.593G>A, XM_011523476.2:c.593G>A, XM_011523476.1:c.593G>A, NM_004913.3:c.596G>A, NM_004913.2:c.596G>A, XM_047434937.1:c.386G>A, XM_047434930.1:c.596G>A, XM_047434931.1:c.593G>A, XM_047434932.1:c.593G>A, XM_047434935.1:c.596G>A, XM_047434933.1:c.494G>A, XM_047434934.1:c.491G>A, XM_047434936.1:c.596G>A, XP_005256386.1:p.Arg199Gln, XP_011521778.1:p.Arg198Gln, NP_004904.2:p.Arg199Gln, XP_047290893.1:p.Arg129Gln, XP_047290886.1:p.Arg199Gln, XP_047290887.1:p.Arg198Gln, XP_047290888.1:p.Arg198Gln, XP_047290891.1:p.Arg199Gln, XP_047290889.1:p.Arg165Gln, XP_047290890.1:p.Arg164Gln, XP_047290892.1:p.Arg199Gln

Select item 14821729076.

rs1482172907 [Homo sapiens]

Variant type:: DELINS
Alleles:: CGTGGGGG>- [Show Flanks]
Chromosome:: 16:89710788 (GRCh38)
16:89777196 (GRCh37)
Canonical SPDI:: NC_000016.10:89710780:GTGGGGGCGTGGGGG:GTGGGGG
Gene:: VPS9D1 (Varview), VPS9D1-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,frameshift_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: -=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.89710788_89710795del, NC_000016.9:g.89777196_89777203del, XM_005256329.6:c.1056_1063del, XM_005256329.5:c.1056_1063del, XM_005256329.4:c.1056_1063del, XM_005256329.3:c.1056_1063del, XM_005256329.2:c.1056_1063del, XM_005256329.1:c.1056_1063del, XM_011523476.4:c.1053_1060del, XM_011523476.3:c.1053_1060del, XM_011523476.2:c.1053_1060del, XM_011523476.1:c.1053_1060del, NM_004913.3:c.1056_1063del, NM_004913.2:c.1056_1063del, XM_047434937.1:c.846_853del, XM_047434930.1:c.1056_1063del, XM_047434931.1:c.1053_1060del, XM_047434932.1:c.1053_1060del, XM_047434935.1:c.1056_1063del, XM_047434933.1:c.954_961del, XM_047434934.1:c.951_958del, XM_047434936.1:c.1056_1063del, XP_005256386.1:p.Pro354fs, XP_011521778.1:p.Pro353fs, NP_004904.2:p.Pro354fs, XP_047290893.1:p.Pro284fs, XP_047290886.1:p.Pro354fs, XP_047290887.1:p.Pro353fs, XP_047290888.1:p.Pro353fs, XP_047290891.1:p.Pro354fs, XP_047290889.1:p.Pro320fs, XP_047290890.1:p.Pro319fs, XP_047290892.1:p.Pro354fs

Select item 14814694587.

rs1481469458 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:89720770 (GRCh38)
16:89787178 (GRCh37)
Canonical SPDI:: NC_000016.10:89720769:C:A,NC_000016.10:89720769:C:T
Gene:: VPS9D1 (Varview), ZNF276 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
A=0.000012/1 (GnomAD_exomes)
T=0.000021/3 (GnomAD)
HGVS:: NC_000016.10:g.89720770C>A, NC_000016.10:g.89720770C>T, NC_000016.9:g.89787178C>A, NC_000016.9:g.89787178C>T, XM_005256329.6:c.92G>T, XM_005256329.6:c.92G>A, XM_005256329.5:c.92G>T, XM_005256329.5:c.92G>A, XM_005256329.4:c.92G>T, XM_005256329.4:c.92G>A, XM_005256329.3:c.92G>T, XM_005256329.3:c.92G>A, XM_005256329.2:c.92G>T, XM_005256329.2:c.92G>A, XM_005256329.1:c.92G>T, XM_005256329.1:c.92G>A, XM_011523476.4:c.92G>T, XM_011523476.4:c.92G>A, XM_011523476.3:c.92G>T, XM_011523476.3:c.92G>A, XM_011523476.2:c.92G>T, XM_011523476.2:c.92G>A, XM_011523476.1:c.92G>T, XM_011523476.1:c.92G>A, NM_004913.3:c.92G>T, NM_004913.3:c.92G>A, NM_004913.2:c.92G>T, NM_004913.2:c.92G>A, XM_047434930.1:c.92G>T, XM_047434930.1:c.92G>A, XM_047434931.1:c.92G>T, XM_047434931.1:c.92G>A, XM_047434932.1:c.92G>T, XM_047434932.1:c.92G>A, XM_047434935.1:c.92G>T, XM_047434935.1:c.92G>A, XM_047434936.1:c.92G>T, XM_047434936.1:c.92G>A, XP_005256386.1:p.Arg31Leu, XP_005256386.1:p.Arg31Gln, XP_011521778.1:p.Arg31Leu, XP_011521778.1:p.Arg31Gln, NP_004904.2:p.Arg31Leu, NP_004904.2:p.Arg31Gln, XP_047290886.1:p.Arg31Leu, XP_047290886.1:p.Arg31Gln, XP_047290887.1:p.Arg31Leu, XP_047290887.1:p.Arg31Gln, XP_047290888.1:p.Arg31Leu, XP_047290888.1:p.Arg31Gln, XP_047290891.1:p.Arg31Leu, XP_047290891.1:p.Arg31Gln, XP_047290892.1:p.Arg31Leu, XP_047290892.1:p.Arg31Gln

Select item 14809456228.

rs1480945622 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:89720766 (GRCh38)
16:89787174 (GRCh37)
Canonical SPDI:: NC_000016.10:89720765:G:C
Gene:: VPS9D1 (Varview), ZNF276 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000012/1 (GnomAD_exomes)
C=0.000038/10 (TOPMED)
C=0.000156/1 (1000Genomes)
C=0.001066/3 (KOREAN)
HGVS:: NC_000016.10:g.89720766G>C, NC_000016.9:g.89787174G>C, XM_005256329.6:c.96C>G, XM_005256329.5:c.96C>G, XM_005256329.4:c.96C>G, XM_005256329.3:c.96C>G, XM_005256329.2:c.96C>G, XM_005256329.1:c.96C>G, XM_011523476.4:c.96C>G, XM_011523476.3:c.96C>G, XM_011523476.2:c.96C>G, XM_011523476.1:c.96C>G, NM_004913.3:c.96C>G, NM_004913.2:c.96C>G, XM_047434930.1:c.96C>G, XM_047434931.1:c.96C>G, XM_047434932.1:c.96C>G, XM_047434935.1:c.96C>G, XM_047434936.1:c.96C>G

Select item 14786168139.

rs1478616813 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:89710834 (GRCh38)
16:89777242 (GRCh37)
Canonical SPDI:: NC_000016.10:89710833:G:A
Gene:: VPS9D1 (Varview), VPS9D1-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
HGVS:: NC_000016.10:g.89710834G>A, NC_000016.9:g.89777242G>A, XM_005256329.6:c.1010C>T, XM_005256329.5:c.1010C>T, XM_005256329.4:c.1010C>T, XM_005256329.3:c.1010C>T, XM_005256329.2:c.1010C>T, XM_005256329.1:c.1010C>T, XM_011523476.4:c.1007C>T, XM_011523476.3:c.1007C>T, XM_011523476.2:c.1007C>T, XM_011523476.1:c.1007C>T, NM_004913.3:c.1010C>T, NM_004913.2:c.1010C>T, XM_047434937.1:c.800C>T, XM_047434930.1:c.1010C>T, XM_047434931.1:c.1007C>T, XM_047434932.1:c.1007C>T, XM_047434935.1:c.1010C>T, XM_047434933.1:c.908C>T, XM_047434934.1:c.905C>T, XM_047434936.1:c.1010C>T, XP_005256386.1:p.Pro337Leu, XP_011521778.1:p.Pro336Leu, NP_004904.2:p.Pro337Leu, XP_047290893.1:p.Pro267Leu, XP_047290886.1:p.Pro337Leu, XP_047290887.1:p.Pro336Leu, XP_047290888.1:p.Pro336Leu, XP_047290891.1:p.Pro337Leu, XP_047290889.1:p.Pro303Leu, XP_047290890.1:p.Pro302Leu, XP_047290892.1:p.Pro337Leu

Select item 147743843210.

rs1477438432 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:89716490 (GRCh38)
16:89782898 (GRCh37)
Canonical SPDI:: NC_000016.10:89716489:G:C
Gene:: VPS9D1 (Varview), VPS9D1-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000016.10:g.89716490G>C, NC_000016.9:g.89782898G>C, XM_005256329.6:c.403C>G, XM_005256329.5:c.403C>G, XM_005256329.4:c.403C>G, XM_005256329.3:c.403C>G, XM_005256329.2:c.403C>G, XM_005256329.1:c.403C>G, XM_011523476.4:c.400C>G, XM_011523476.3:c.400C>G, XM_011523476.2:c.400C>G, XM_011523476.1:c.400C>G, NM_004913.3:c.403C>G, NM_004913.2:c.403C>G, XM_047434937.1:c.193C>G, XM_047434930.1:c.403C>G, XM_047434931.1:c.400C>G, XM_047434932.1:c.400C>G, XM_047434935.1:c.403C>G, XM_047434933.1:c.301C>G, XM_047434934.1:c.298C>G, XM_047434936.1:c.403C>G, NR_036480.1:n.517G>C, XP_005256386.1:p.Gln135Glu, XP_011521778.1:p.Gln134Glu, NP_004904.2:p.Gln135Glu, XP_047290893.1:p.Gln65Glu, XP_047290886.1:p.Gln135Glu, XP_047290887.1:p.Gln134Glu, XP_047290888.1:p.Gln134Glu, XP_047290891.1:p.Gln135Glu, XP_047290889.1:p.Gln101Glu, XP_047290890.1:p.Gln100Glu, XP_047290892.1:p.Gln135Glu

Select item 147704699411.

rs1477046994 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:89712064 (GRCh38)
16:89778472 (GRCh37)
Canonical SPDI:: NC_000016.10:89712063:G:A
Gene:: VPS9D1 (Varview), VPS9D1-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.89712064G>A, NC_000016.9:g.89778472G>A, XM_005256329.6:c.642C>T, XM_005256329.5:c.642C>T, XM_005256329.4:c.642C>T, XM_005256329.3:c.642C>T, XM_005256329.2:c.642C>T, XM_005256329.1:c.642C>T, XM_011523476.4:c.639C>T, XM_011523476.3:c.639C>T, XM_011523476.2:c.639C>T, XM_011523476.1:c.639C>T, NM_004913.3:c.642C>T, NM_004913.2:c.642C>T, XM_047434937.1:c.432C>T, XM_047434930.1:c.642C>T, XM_047434931.1:c.639C>T, XM_047434932.1:c.639C>T, XM_047434935.1:c.642C>T, XM_047434933.1:c.540C>T, XM_047434934.1:c.537C>T, XM_047434936.1:c.642C>T, NR_036480.1:n.209G>A

Select item 147665002112.

rs1476650021 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 16:89709810 (GRCh38)
16:89776218 (GRCh37)
Canonical SPDI:: NC_000016.10:89709809:G:A,NC_000016.10:89709809:G:C
Gene:: VPS9D1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.89709810G>A, NC_000016.10:g.89709810G>C, NC_000016.9:g.89776218G>A, NC_000016.9:g.89776218G>C, XM_005256329.6:c.1358C>T, XM_005256329.6:c.1358C>G, XM_005256329.5:c.1358C>T, XM_005256329.5:c.1358C>G, XM_005256329.4:c.1358C>T, XM_005256329.4:c.1358C>G, XM_005256329.3:c.1358C>T, XM_005256329.3:c.1358C>G, XM_005256329.2:c.1358C>T, XM_005256329.2:c.1358C>G, XM_005256329.1:c.1358C>T, XM_005256329.1:c.1358C>G, XM_011523476.4:c.1355C>T, XM_011523476.4:c.1355C>G, XM_011523476.3:c.1355C>T, XM_011523476.3:c.1355C>G, XM_011523476.2:c.1355C>T, XM_011523476.2:c.1355C>G, XM_011523476.1:c.1355C>T, XM_011523476.1:c.1355C>G, NM_004913.3:c.1355C>T, NM_004913.3:c.1355C>G, NM_004913.2:c.1355C>T, NM_004913.2:c.1355C>G, XM_047434937.1:c.1187C>T, XM_047434937.1:c.1187C>G, XM_047434930.1:c.1397C>T, XM_047434930.1:c.1397C>G, XM_047434931.1:c.1394C>T, XM_047434931.1:c.1394C>G, XM_047434932.1:c.1352C>T, XM_047434932.1:c.1352C>G, XM_047434935.1:c.1397C>T, XM_047434935.1:c.1397C>G, XM_047434933.1:c.1295C>T, XM_047434933.1:c.1295C>G, XM_047434934.1:c.1292C>T, XM_047434934.1:c.1292C>G, XM_047434936.1:c.1355C>T, XM_047434936.1:c.1355C>G, XP_005256386.1:p.Ser453Phe, XP_005256386.1:p.Ser453Cys, XP_011521778.1:p.Ser452Phe, XP_011521778.1:p.Ser452Cys, NP_004904.2:p.Ser452Phe, NP_004904.2:p.Ser452Cys, XP_047290893.1:p.Ser396Phe, XP_047290893.1:p.Ser396Cys, XP_047290886.1:p.Ser466Phe, XP_047290886.1:p.Ser466Cys, XP_047290887.1:p.Ser465Phe, XP_047290887.1:p.Ser465Cys, XP_047290888.1:p.Ser451Phe, XP_047290888.1:p.Ser451Cys, XP_047290891.1:p.Ser466Phe, XP_047290891.1:p.Ser466Cys, XP_047290889.1:p.Ser432Phe, XP_047290889.1:p.Ser432Cys, XP_047290890.1:p.Ser431Phe, XP_047290890.1:p.Ser431Cys, XP_047290892.1:p.Ser452Phe, XP_047290892.1:p.Ser452Cys

Select item 147567434313.

rs1475674343 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:89709855 (GRCh38)
16:89776263 (GRCh37)
Canonical SPDI:: NC_000016.10:89709854:G:A
Gene:: VPS9D1 (Varview), VPS9D1-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000016.10:g.89709855G>A, NC_000016.9:g.89776263G>A, XM_005256329.6:c.1313C>T, XM_005256329.5:c.1313C>T, XM_005256329.4:c.1313C>T, XM_005256329.3:c.1313C>T, XM_005256329.2:c.1313C>T, XM_005256329.1:c.1313C>T, XM_011523476.4:c.1310C>T, XM_011523476.3:c.1310C>T, XM_011523476.2:c.1310C>T, XM_011523476.1:c.1310C>T, NM_004913.3:c.1310C>T, NM_004913.2:c.1310C>T, XM_047434937.1:c.1142C>T, XM_047434930.1:c.1352C>T, XM_047434931.1:c.1349C>T, XM_047434932.1:c.1307C>T, XM_047434935.1:c.1352C>T, XM_047434933.1:c.1250C>T, XM_047434934.1:c.1247C>T, XM_047434936.1:c.1310C>T, XP_005256386.1:p.Ala438Val, XP_011521778.1:p.Ala437Val, NP_004904.2:p.Ala437Val, XP_047290893.1:p.Ala381Val, XP_047290886.1:p.Ala451Val, XP_047290887.1:p.Ala450Val, XP_047290888.1:p.Ala436Val, XP_047290891.1:p.Ala451Val, XP_047290889.1:p.Ala417Val, XP_047290890.1:p.Ala416Val, XP_047290892.1:p.Ala437Val

Select item 147552733514.

rs1475527335 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:89712082 (GRCh38)
16:89778490 (GRCh37)
Canonical SPDI:: NC_000016.10:89712081:C:T
Gene:: VPS9D1 (Varview), VPS9D1-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000051/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.89712082C>T, NC_000016.9:g.89778490C>T, XM_005256329.6:c.624G>A, XM_005256329.5:c.624G>A, XM_005256329.4:c.624G>A, XM_005256329.3:c.624G>A, XM_005256329.2:c.624G>A, XM_005256329.1:c.624G>A, XM_011523476.4:c.621G>A, XM_011523476.3:c.621G>A, XM_011523476.2:c.621G>A, XM_011523476.1:c.621G>A, NM_004913.3:c.624G>A, NM_004913.2:c.624G>A, XM_047434937.1:c.414G>A, XM_047434930.1:c.624G>A, XM_047434931.1:c.621G>A, XM_047434932.1:c.621G>A, XM_047434935.1:c.624G>A, XM_047434933.1:c.522G>A, XM_047434934.1:c.519G>A, XM_047434936.1:c.624G>A, NR_036480.1:n.227C>T

Select item 147298595015.

rs1472985950 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 16:89710973 (GRCh38)
16:89777381 (GRCh37)
Canonical SPDI:: NC_000016.10:89710972:G:A,NC_000016.10:89710972:G:C
Gene:: VPS9D1 (Varview), VPS9D1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000016.10:g.89710973G>A, NC_000016.10:g.89710973G>C, NC_000016.9:g.89777381G>A, NC_000016.9:g.89777381G>C, XM_005256329.6:c.871C>T, XM_005256329.6:c.871C>G, XM_005256329.5:c.871C>T, XM_005256329.5:c.871C>G, XM_005256329.4:c.871C>T, XM_005256329.4:c.871C>G, XM_005256329.3:c.871C>T, XM_005256329.3:c.871C>G, XM_005256329.2:c.871C>T, XM_005256329.2:c.871C>G, XM_005256329.1:c.871C>T, XM_005256329.1:c.871C>G, XM_011523476.4:c.868C>T, XM_011523476.4:c.868C>G, XM_011523476.3:c.868C>T, XM_011523476.3:c.868C>G, XM_011523476.2:c.868C>T, XM_011523476.2:c.868C>G, XM_011523476.1:c.868C>T, XM_011523476.1:c.868C>G, NM_004913.3:c.871C>T, NM_004913.3:c.871C>G, NM_004913.2:c.871C>T, NM_004913.2:c.871C>G, XM_047434937.1:c.661C>T, XM_047434937.1:c.661C>G, XM_047434930.1:c.871C>T, XM_047434930.1:c.871C>G, XM_047434931.1:c.868C>T, XM_047434931.1:c.868C>G, XM_047434932.1:c.868C>T, XM_047434932.1:c.868C>G, XM_047434935.1:c.871C>T, XM_047434935.1:c.871C>G, XM_047434933.1:c.769C>T, XM_047434933.1:c.769C>G, XM_047434934.1:c.766C>T, XM_047434934.1:c.766C>G, XM_047434936.1:c.871C>T, XM_047434936.1:c.871C>G, XP_005256386.1:p.Leu291Val, XP_011521778.1:p.Leu290Val, NP_004904.2:p.Leu291Val, XP_047290893.1:p.Leu221Val, XP_047290886.1:p.Leu291Val, XP_047290887.1:p.Leu290Val, XP_047290888.1:p.Leu290Val, XP_047290891.1:p.Leu291Val, XP_047290889.1:p.Leu257Val, XP_047290890.1:p.Leu256Val, XP_047290892.1:p.Leu291Val

Select item 147223148416.

rs1472231484 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:89710908 (GRCh38)
16:89777316 (GRCh37)
Canonical SPDI:: NC_000016.10:89710907:G:A
Gene:: VPS9D1 (Varview), VPS9D1-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,synonymous_variant,2KB_upstream_variant
HGVS:: NC_000016.10:g.89710908G>A, NC_000016.9:g.89777316G>A, XM_005256329.6:c.936C>T, XM_005256329.5:c.936C>T, XM_005256329.4:c.936C>T, XM_005256329.3:c.936C>T, XM_005256329.2:c.936C>T, XM_005256329.1:c.936C>T, XM_011523476.4:c.933C>T, XM_011523476.3:c.933C>T, XM_011523476.2:c.933C>T, XM_011523476.1:c.933C>T, NM_004913.3:c.936C>T, NM_004913.2:c.936C>T, XM_047434937.1:c.726C>T, XM_047434930.1:c.936C>T, XM_047434931.1:c.933C>T, XM_047434932.1:c.933C>T, XM_047434935.1:c.936C>T, XM_047434933.1:c.834C>T, XM_047434934.1:c.831C>T, XM_047434936.1:c.936C>T

Select item 147180026617.

rs1471800266 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 16:89710742 (GRCh38)
16:89777150 (GRCh37)
Canonical SPDI:: NC_000016.10:89710741:C:A,NC_000016.10:89710741:C:G
Gene:: VPS9D1 (Varview), VPS9D1-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000016.10:g.89710742C>A, NC_000016.10:g.89710742C>G, NC_000016.9:g.89777150C>A, NC_000016.9:g.89777150C>G, XM_005256329.6:c.1102G>T, XM_005256329.6:c.1102G>C, XM_005256329.5:c.1102G>T, XM_005256329.5:c.1102G>C, XM_005256329.4:c.1102G>T, XM_005256329.4:c.1102G>C, XM_005256329.3:c.1102G>T, XM_005256329.3:c.1102G>C, XM_005256329.2:c.1102G>T, XM_005256329.2:c.1102G>C, XM_005256329.1:c.1102G>T, XM_005256329.1:c.1102G>C, XM_011523476.4:c.1099G>T, XM_011523476.4:c.1099G>C, XM_011523476.3:c.1099G>T, XM_011523476.3:c.1099G>C, XM_011523476.2:c.1099G>T, XM_011523476.2:c.1099G>C, XM_011523476.1:c.1099G>T, XM_011523476.1:c.1099G>C, NM_004913.3:c.1102G>T, NM_004913.3:c.1102G>C, NM_004913.2:c.1102G>T, NM_004913.2:c.1102G>C, XM_047434937.1:c.892G>T, XM_047434937.1:c.892G>C, XM_047434930.1:c.1102G>T, XM_047434930.1:c.1102G>C, XM_047434931.1:c.1099G>T, XM_047434931.1:c.1099G>C, XM_047434932.1:c.1099G>T, XM_047434932.1:c.1099G>C, XM_047434935.1:c.1102G>T, XM_047434935.1:c.1102G>C, XM_047434933.1:c.1000G>T, XM_047434933.1:c.1000G>C, XM_047434934.1:c.997G>T, XM_047434934.1:c.997G>C, XM_047434936.1:c.1102G>T, XM_047434936.1:c.1102G>C, XP_005256386.1:p.Asp368Tyr, XP_005256386.1:p.Asp368His, XP_011521778.1:p.Asp367Tyr, XP_011521778.1:p.Asp367His, NP_004904.2:p.Asp368Tyr, NP_004904.2:p.Asp368His, XP_047290893.1:p.Asp298Tyr, XP_047290893.1:p.Asp298His, XP_047290886.1:p.Asp368Tyr, XP_047290886.1:p.Asp368His, XP_047290887.1:p.Asp367Tyr, XP_047290887.1:p.Asp367His, XP_047290888.1:p.Asp367Tyr, XP_047290888.1:p.Asp367His, XP_047290891.1:p.Asp368Tyr, XP_047290891.1:p.Asp368His, XP_047290889.1:p.Asp334Tyr, XP_047290889.1:p.Asp334His, XP_047290890.1:p.Asp333Tyr, XP_047290890.1:p.Asp333His, XP_047290892.1:p.Asp368Tyr, XP_047290892.1:p.Asp368His

Select item 147130832518.

rs1471308325 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 16:89716512 (GRCh38)
16:89782920 (GRCh37)
Canonical SPDI:: NC_000016.10:89716511:T:A
Gene:: VPS9D1 (Varview), VPS9D1-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.89716512T>A, NC_000016.9:g.89782920T>A, XM_005256329.6:c.381A>T, XM_005256329.5:c.381A>T, XM_005256329.4:c.381A>T, XM_005256329.3:c.381A>T, XM_005256329.2:c.381A>T, XM_005256329.1:c.381A>T, XM_011523476.4:c.378A>T, XM_011523476.3:c.378A>T, XM_011523476.2:c.378A>T, XM_011523476.1:c.378A>T, NM_004913.3:c.381A>T, NM_004913.2:c.381A>T, XM_047434937.1:c.171A>T, XM_047434930.1:c.381A>T, XM_047434931.1:c.378A>T, XM_047434932.1:c.378A>T, XM_047434935.1:c.381A>T, XM_047434933.1:c.279A>T, XM_047434934.1:c.276A>T, XM_047434936.1:c.381A>T, NR_036480.1:n.539T>A

Select item 146983158519.

rs1469831585 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:89719099 (GRCh38)
16:89785507 (GRCh37)
Canonical SPDI:: NC_000016.10:89719098:C:T
Gene:: VPS9D1 (Varview), ZNF276 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.89719099C>T, NC_000016.9:g.89785507C>T, XM_005256329.6:c.103G>A, XM_005256329.5:c.103G>A, XM_005256329.4:c.103G>A, XM_005256329.3:c.103G>A, XM_005256329.2:c.103G>A, XM_005256329.1:c.103G>A, XM_011523476.4:c.103G>A, XM_011523476.3:c.103G>A, XM_011523476.2:c.103G>A, XM_011523476.1:c.103G>A, NM_004913.3:c.103G>A, NM_004913.2:c.103G>A, XM_047434937.1:c.-108G>A, XM_047434930.1:c.103G>A, XM_047434931.1:c.103G>A, XM_047434932.1:c.103G>A, XM_047434935.1:c.103G>A, XM_047434936.1:c.103G>A, XP_005256386.1:p.Ala35Thr, XP_011521778.1:p.Ala35Thr, NP_004904.2:p.Ala35Thr, XP_047290886.1:p.Ala35Thr, XP_047290887.1:p.Ala35Thr, XP_047290888.1:p.Ala35Thr, XP_047290891.1:p.Ala35Thr, XP_047290892.1:p.Ala35Thr

Select item 146889530620.

rs1468895306 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 16:89712460 (GRCh38)
16:89778868 (GRCh37)
Canonical SPDI:: NC_000016.10:89712459:T:A,NC_000016.10:89712459:T:C
Gene:: VPS9D1 (Varview), VPS9D1-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.89712460T>A, NC_000016.10:g.89712460T>C, NC_000016.9:g.89778868T>A, NC_000016.9:g.89778868T>C, XM_005256329.6:c.606A>T, XM_005256329.6:c.606A>G, XM_005256329.5:c.606A>T, XM_005256329.5:c.606A>G, XM_005256329.4:c.606A>T, XM_005256329.4:c.606A>G, XM_005256329.3:c.606A>T, XM_005256329.3:c.606A>G, XM_005256329.2:c.606A>T, XM_005256329.2:c.606A>G, XM_005256329.1:c.606A>T, XM_005256329.1:c.606A>G, XM_011523476.4:c.603A>T, XM_011523476.4:c.603A>G, XM_011523476.3:c.603A>T, XM_011523476.3:c.603A>G, XM_011523476.2:c.603A>T, XM_011523476.2:c.603A>G, XM_011523476.1:c.603A>T, XM_011523476.1:c.603A>G, NM_004913.3:c.606A>T, NM_004913.3:c.606A>G, NM_004913.2:c.606A>T, NM_004913.2:c.606A>G, XM_047434937.1:c.396A>T, XM_047434937.1:c.396A>G, XM_047434930.1:c.606A>T, XM_047434930.1:c.606A>G, XM_047434931.1:c.603A>T, XM_047434931.1:c.603A>G, XM_047434932.1:c.603A>T, XM_047434932.1:c.603A>G, XM_047434935.1:c.606A>T, XM_047434935.1:c.606A>G, XM_047434933.1:c.504A>T, XM_047434933.1:c.504A>G, XM_047434934.1:c.501A>T, XM_047434934.1:c.501A>G, XM_047434936.1:c.606A>T, XM_047434936.1:c.606A>G

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dbSNP

Result Filters

Clinical Significance

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