SNP Links for Gene (Select 693212) - SNP

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Items: 1 to 20 of 591

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Select item 14906621591.

rs1490662159 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 15:42201444 (GRCh38)
15:42493642 (GRCh37)
Canonical SPDI:: NC_000015.10:42201443:G:C
Gene:: VPS39 (Varview), MIR627 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.0002/1 (ALFA)
C=0.0002/1 (Estonian)
HGVS:: NC_000015.10:g.42201444G>C, NC_000015.9:g.42493642G>C

Select item 14902185122.

rs1490218512 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:42201450 (GRCh38)
15:42493648 (GRCh37)
Canonical SPDI:: NC_000015.10:42201449:C:T
Gene:: VPS39 (Varview), MIR627 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.42201450C>T, NC_000015.9:g.42493648C>T

Select item 14883681783.

rs1488368178 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 15:42199943 (GRCh38)
15:42492141 (GRCh37)
Canonical SPDI:: NC_000015.10:42199942:CCC:CC
Gene:: VPS39 (Varview), MIR627 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.42199945del, NC_000015.9:g.42492143del, NM_015289.5:c.92del, NM_015289.4:c.92del, NM_015289.3:c.92del, NM_015289.2:c.92del, XM_011521403.3:c.92del, XM_011521403.2:c.92del, XM_011521403.1:c.92del, XM_011521404.3:c.92del, XM_011521404.2:c.92del, XM_011521404.1:c.92del, NM_001301138.3:c.92del, NM_001301138.2:c.92del, NM_001301138.1:c.92del, XM_047432322.1:c.92del, NP_056104.2:p.Gly31fs, XP_011519705.1:p.Gly31fs, XP_011519706.1:p.Gly31fs, NP_001288067.1:p.Gly31fs, XP_047288278.1:p.Gly31fs

Select item 14874848564.

rs1487484856 [Homo sapiens]

Variant type:: DELINS
Alleles:: TAT>- [Show Flanks]
Chromosome:: 15:42200289 (GRCh38)
15:42492487 (GRCh37)
Canonical SPDI:: NC_000015.10:42200283:ATTATTAT:ATTAT
Gene:: VPS39 (Varview), MIR627 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATTAT=0./0 (ALFA)
-=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.42200286TAT[1], NC_000015.9:g.42492484TAT[1]

Select item 14873897005.

rs1487389700 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 15:42200435 (GRCh38)
15:42492633 (GRCh37)
Canonical SPDI:: NC_000015.10:42200434:G:C
Gene:: VPS39 (Varview), MIR627 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_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_000015.10:g.42200435G>C, NC_000015.9:g.42492633G>C

Select item 14868204306.

rs1486820430 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:42200457 (GRCh38)
15:42492655 (GRCh37)
Canonical SPDI:: NC_000015.10:42200456:C:T
Gene:: VPS39 (Varview), MIR627 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_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_000015.10:g.42200457C>T, NC_000015.9:g.42492655C>T

Select item 14854072827.

rs1485407282 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:42200752 (GRCh38)
15:42492950 (GRCh37)
Canonical SPDI:: NC_000015.10:42200751:A:G
Gene:: VPS39 (Varview), MIR627 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00034/1 (KOREAN)
HGVS:: NC_000015.10:g.42200752A>G, NC_000015.9:g.42492950A>G

Select item 14848716268.

rs1484871626 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:42201462 (GRCh38)
15:42493660 (GRCh37)
Canonical SPDI:: NC_000015.10:42201461:A:G
Gene:: VPS39 (Varview), MIR627 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000015.10:g.42201462A>G, NC_000015.9:g.42493660A>G

Select item 14818234099.

rs1481823409 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:42201202 (GRCh38)
15:42493400 (GRCh37)
Canonical SPDI:: NC_000015.10:42201201:G:A
Gene:: VPS39 (Varview), MIR627 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000015.10:g.42201202G>A, NC_000015.9:g.42493400G>A

Select item 148113009610.

rs1481130096 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:42200062 (GRCh38)
15:42492260 (GRCh37)
Canonical SPDI:: NC_000015.10:42200061:T:C
Gene:: VPS39 (Varview), MIR627 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.42200062T>C, NC_000015.9:g.42492260T>C

Select item 148024501711.

rs1480245017 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:42201546 (GRCh38)
15:42493744 (GRCh37)
Canonical SPDI:: NC_000015.10:42201545:T:C
Gene:: VPS39 (Varview), MIR627 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000015.10:g.42201546T>C, NC_000015.9:g.42493744T>C

Select item 147792975712.

rs1477929757 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAAAAACAAA>- [Show Flanks]
Chromosome:: 15:42199987 (GRCh38)
15:42492185 (GRCh37)
Canonical SPDI:: NC_000015.10:42199983:AAACAAAAACAAA:AAA
Gene:: VPS39 (Varview), MIR627 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.42199987_42199996del, NC_000015.9:g.42492185_42492194del

Select item 147767829713.

rs1477678297 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:42199686 (GRCh38)
15:42491884 (GRCh37)
Canonical SPDI:: NC_000015.10:42199685:A:G
Gene:: VPS39 (Varview), MIR627 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0.00008/1 (ALFA)
G=0.00002/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.42199686A>G, NC_000015.9:g.42491884A>G

Select item 147702401714.

rs1477024017 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:42199387 (GRCh38)
15:42491585 (GRCh37)
Canonical SPDI:: NC_000015.10:42199386:T:C
Gene:: VPS39 (Varview), MIR627 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_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_000015.10:g.42199387T>C, NC_000015.9:g.42491585T>C

Select item 147695232815.

rs1476952328 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:42199800 (GRCh38)
15:42491998 (GRCh37)
Canonical SPDI:: NC_000015.10:42199799:A:C
Gene:: VPS39 (Varview), MIR627 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000026/7 (TOPMED)
C=0.000036/5 (GnomAD)
HGVS:: NC_000015.10:g.42199800A>C, NC_000015.9:g.42491998A>C

Select item 147542305916.

rs1475423059 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:42201139 (GRCh38)
15:42493337 (GRCh37)
Canonical SPDI:: NC_000015.10:42201138:G:A
Gene:: VPS39 (Varview), MIR627 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.42201139G>A, NC_000015.9:g.42493337G>A

Select item 147451349217.

rs1474513492 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 15:42199194 (GRCh38)
15:42491392 (GRCh37)
Canonical SPDI:: NC_000015.10:42199193:AAA:AA
Gene:: VPS39 (Varview), MIR627 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0.000094/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000023/6 (TOPMED)
HGVS:: NC_000015.10:g.42199196del, NC_000015.9:g.42491394del

Select item 147319850918.

rs1473198509 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:42199629 (GRCh38)
15:42491827 (GRCh37)
Canonical SPDI:: NC_000015.10:42199628:C:A
Gene:: VPS39 (Varview), MIR627 (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)
A=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.42199629C>A, NC_000015.9:g.42491827C>A, NR_030357.1:n.38G>T

Select item 147079282619.

rs1470792826 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:42201174 (GRCh38)
15:42493372 (GRCh37)
Canonical SPDI:: NC_000015.10:42201173:T:C
Gene:: VPS39 (Varview), MIR627 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_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_000015.10:g.42201174T>C, NC_000015.9:g.42493372T>C

Select item 147059114020.

rs1470591140 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:42199381 (GRCh38)
15:42491579 (GRCh37)
Canonical SPDI:: NC_000015.10:42199380:A:C
Gene:: VPS39 (Varview), MIR627 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000019/5 (TOPMED)
C=0.000036/5 (GnomAD)
HGVS:: NC_000015.10:g.42199381A>C, NC_000015.9:g.42491579A>C

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