SNP Links for Nucleotide (Select 302318926) - SNP

Links from Nucleotide

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Select item 14902678761.

rs1490267876 [Homo sapiens]

Variant type:: DELINS
Alleles:: TACGTCCAGTGGCTGCCCCGACCTCTGTGATCC>- [Show Flanks]
Chromosome:: 16:89717846 (GRCh38)
16:89784254 (GRCh37)
Canonical SPDI:: NC_000016.10:89717837:TGTGATCCTACGTCCAGTGGCTGCCCCGACCTCTGTGATCC:TGTGATCC
Gene:: VPS9D1 (Varview), VPS9D1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.00004/1 (TOMMO)
HGVS:: NC_000016.10:g.89717846_89717878del, NC_000016.9:g.89784254_89784286del, NR_036480.1:n.1434_1466del

Select item 14896565872.

rs1489656587 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 16:89718108 (GRCh38)
16:89784516 (GRCh37)
Canonical SPDI:: NC_000016.10:89718107:A:C
Gene:: VPS9D1 (Varview), VPS9D1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.00012/2 (ALFA)
HGVS:: NC_000016.10:g.89718108A>C, NC_000016.9:g.89784516A>C, NR_036480.1:n.1696A>C

Select item 14894448813.

rs1489444881 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:89718010 (GRCh38)
16:89784418 (GRCh37)
Canonical SPDI:: NC_000016.10:89718009:C:G
Gene:: VPS9D1 (Varview), VPS9D1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.89718010C>G, NC_000016.9:g.89784418C>G, NR_036480.1:n.1598C>G

Select item 14889307764.

rs1488930776 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:89716689 (GRCh38)
16:89783097 (GRCh37)
Canonical SPDI:: NC_000016.10:89716688:G:A
Gene:: VPS9D1 (Varview), VPS9D1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.89716689G>A, NC_000016.9:g.89783097G>A, NR_036480.1:n.716G>A

Select item 14875909985.

rs1487590998 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:89717767 (GRCh38)
16:89784175 (GRCh37)
Canonical SPDI:: NC_000016.10:89717766:G:A
Gene:: VPS9D1 (Varview), VPS9D1-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000016.10:g.89717767G>A, NC_000016.9:g.89784175G>A, NR_036480.1:n.1355G>A

Select item 14869009246.

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 14858574097.

rs1485857409 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:89712147 (GRCh38)
16:89778555 (GRCh37)
Canonical SPDI:: NC_000016.10:89712146:G:A
Gene:: VPS9D1 (Varview), VPS9D1-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000007/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.89712147G>A, NC_000016.9:g.89778555G>A, NR_036480.1:n.292G>A

Select item 14852667268.

rs1485266726 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:89717545 (GRCh38)
16:89783953 (GRCh37)
Canonical SPDI:: NC_000016.10:89717544:C:T
Gene:: VPS9D1 (Varview), VPS9D1-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.89717545C>T, NC_000016.9:g.89783953C>T, NR_036480.1:n.1133C>T

Select item 14848800449.

rs1484880044 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:89717499 (GRCh38)
16:89783907 (GRCh37)
Canonical SPDI:: NC_000016.10:89717498:G:A
Gene:: VPS9D1 (Varview), VPS9D1-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000066/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/2 (GnomAD_exomes)
A=0.000223/1 (Estonian)
HGVS:: NC_000016.10:g.89717499G>A, NC_000016.9:g.89783907G>A, NR_036480.1:n.1087G>A

Select item 148440889710.

rs1484408897 [Homo sapiens]

Variant type:: DEL
Alleles:: CCTACGTCCA>- [Show Flanks]
Chromosome:: 16:89717844 (GRCh38)
16:89784252 (GRCh37)
Canonical SPDI:: NC_000016.10:89717843:CCTACGTCCA:
Gene:: VPS9D1 (Varview), VPS9D1-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.89717844_89717853del, NC_000016.9:g.89784252_89784261del, NR_036480.1:n.1432_1441del

Select item 148285271311.

rs1482852713 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:89712803 (GRCh38)
16:89779211 (GRCh37)
Canonical SPDI:: NC_000016.10:89712802:G:A
Gene:: VPS9D1 (Varview), VPS9D1-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000016.10:g.89712803G>A, NC_000016.9:g.89779211G>A, NR_036480.1:n.482G>A

Select item 147889739512.

rs1478897395 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:89717421 (GRCh38)
16:89783829 (GRCh37)
Canonical SPDI:: NC_000016.10:89717420:C:T
Gene:: VPS9D1 (Varview), VPS9D1-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000011/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.89717421C>T, NC_000016.9:g.89783829C>T, NR_036480.1:n.1009C>T

Select item 147853134613.

rs1478531346 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 16:89717789 (GRCh38)
16:89784197 (GRCh37)
Canonical SPDI:: NC_000016.10:89717788:T:G
Gene:: VPS9D1 (Varview), VPS9D1-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.89717789T>G, NC_000016.9:g.89784197T>G, NR_036480.1:n.1377T>G

Select item 147762452414.

rs1477624524 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:89717936 (GRCh38)
16:89784344 (GRCh37)
Canonical SPDI:: NC_000016.10:89717935:C:G,NC_000016.10:89717935:C:T
Gene:: VPS9D1 (Varview), VPS9D1-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.89717936C>G, NC_000016.10:g.89717936C>T, NC_000016.9:g.89784344C>G, NC_000016.9:g.89784344C>T, NR_036480.1:n.1524C>G, NR_036480.1:n.1524C>T

Select item 147743843215.

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 147704699416.

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 147552733517.

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 147510499718.

rs1475104997 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 16:89717860 (GRCh38)
16:89784269 (GRCh37)
Canonical SPDI:: NC_000016.10:89717860:CCCC:CCCCC
Gene:: VPS9D1 (Varview), VPS9D1-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCC=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.89717864dup, NC_000016.9:g.89784272dup, NR_036480.1:n.1452dup

Select item 147493439319.

rs1474934393 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:89717502 (GRCh38)
16:89783910 (GRCh37)
Canonical SPDI:: NC_000016.10:89717501:C:T
Gene:: VPS9D1 (Varview), VPS9D1-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.89717502C>T, NC_000016.9:g.89783910C>T, NR_036480.1:n.1090C>T

Select item 147464123320.

rs1474641233 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 16:89711870 (GRCh38)
16:89778279 (GRCh37)
Canonical SPDI:: NC_000016.10:89711870:GGGGG:GGGGGG
Gene:: VPS9D1 (Varview), VPS9D1-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.89711875dup, NC_000016.9:g.89778283dup, NR_036480.1:n.20dup

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