SNP Links for Gene (Select 284013) - SNP

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Select item 14909500921.

rs1490950092 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:4785966 (GRCh38)
17:4689261 (GRCh37)
Canonical SPDI:: NC_000017.11:4785965:A:G
Gene:: VMO1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.4785966A>G, NC_000017.10:g.4689261A>G, NM_182566.3:c.282T>C, NM_182566.2:c.282T>C, NM_001144939.2:c.282T>C, NM_001144939.1:c.282T>C, NM_001144940.2:c.282T>C, NM_001144940.1:c.282T>C

Select item 14908849302.

rs1490884930 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:4785327 (GRCh38)
17:4688622 (GRCh37)
Canonical SPDI:: NC_000017.11:4785326:C:T
Gene:: VMO1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.4785327C>T, NC_000017.10:g.4688622C>T, NM_182566.3:c.*35G>A, NM_182566.2:c.*35G>A, NM_001144939.2:c.*335G>A, NM_001144939.1:c.*335G>A, NM_001144940.2:c.*315G>A, NM_001144940.1:c.*315G>A, NM_001144941.2:c.*315G>A, NM_001144941.1:c.*315G>A

Select item 14905020713.

rs1490502071 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:4788274 (GRCh38)
17:4691569 (GRCh37)
Canonical SPDI:: NC_000017.11:4788273:C:T
Gene:: VMO1 (Varview), GLTPD2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000017.11:g.4788274C>T, NC_000017.10:g.4691569C>T

Select item 14901725314.

rs1490172531 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAG>- [Show Flanks]
Chromosome:: 17:4787361 (GRCh38)
17:4690656 (GRCh37)
Canonical SPDI:: NC_000017.11:4787357:AAGAAG:AAG
Gene:: VMO1 (Varview), GLTPD2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAGAAG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.4787358AAG[1], NC_000017.10:g.4690653AAG[1]

Select item 14901416585.

rs1490141658 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:4786453 (GRCh38)
17:4689748 (GRCh37)
Canonical SPDI:: NC_000017.11:4786452:C:G
Gene:: VMO1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000017.11:g.4786453C>G, NC_000017.10:g.4689748C>G

Select item 14887045836.

rs1488704583 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>- [Show Flanks]
Chromosome:: 17:4787526 (GRCh38)
17:4690821 (GRCh37)
Canonical SPDI:: NC_000017.11:4787523:TTTTTT:TT
Gene:: VMO1 (Varview), GLTPD2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
HGVS:: NC_000017.11:g.4787526_4787529del, NC_000017.10:g.4690821_4690824del

Select item 14880594217.

rs1488059421 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:4788078 (GRCh38)
17:4691373 (GRCh37)
Canonical SPDI:: NC_000017.11:4788077:G:A
Gene:: VMO1 (Varview), GLTPD2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000036/5 (GnomAD)
A=0.000042/11 (TOPMED)
HGVS:: NC_000017.11:g.4788078G>A, NC_000017.10:g.4691373G>A

Select item 14876425538.

rs1487642553 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:4786510 (GRCh38)
17:4689805 (GRCh37)
Canonical SPDI:: NC_000017.11:4786509:A:G
Gene:: VMO1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.4786510A>G, NC_000017.10:g.4689805A>G

Select item 14862100269.

rs1486210026 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:4785167 (GRCh38)
17:4688462 (GRCh37)
Canonical SPDI:: NC_000017.11:4785166:C:T
Gene:: VMO1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.4785167C>T, NC_000017.10:g.4688462C>T

Select item 148612444610.

rs1486124446 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:4785011 (GRCh38)
17:4688306 (GRCh37)
Canonical SPDI:: NC_000017.11:4785010:T:C
Gene:: VMO1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_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.4785011T>C, NC_000017.10:g.4688306T>C

Select item 148600564811.

rs1486005648 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:4787530 (GRCh38)
17:4690825 (GRCh37)
Canonical SPDI:: NC_000017.11:4787529:G:T
Gene:: VMO1 (Varview), GLTPD2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
G=0.5/13 (SGDP_PRJ)
HGVS:: NC_000017.11:g.4787530G>T, NC_000017.10:g.4690825G>T

Select item 148496905412.

rs1484969054 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAATAAATAAAT>-,AAATAAAT [Show Flanks]
Chromosome:: 17:4785250 (GRCh38)
17:4688545 (GRCh37)
Canonical SPDI:: NC_000017.11:4785246:AATAAATAAATAAAT:AAT,NC_000017.11:4785246:AATAAATAAATAAAT:AATAAATAAAT
Gene:: VMO1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AATAAATAAAT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000017/1 (GnomAD)
HGVS:: NC_000017.11:g.4785250_4785261del, NC_000017.11:g.4785250AAAT[2], NC_000017.10:g.4688545_4688556del, NC_000017.10:g.4688545AAAT[2]

Select item 148487243713.

rs1484872437 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:4787710 (GRCh38)
17:4691005 (GRCh37)
Canonical SPDI:: NC_000017.11:4787709:T:C
Gene:: VMO1 (Varview), GLTPD2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.4787710T>C, NC_000017.10:g.4691005T>C

Select item 148416935814.

rs1484169358 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:4785654 (GRCh38)
17:4688949 (GRCh37)
Canonical SPDI:: NC_000017.11:4785653:C:T
Gene:: VMO1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.4785654C>T, NC_000017.10:g.4688949C>T, NM_182566.3:c.317G>A, NM_182566.2:c.317G>A, NM_001144939.2:c.*8G>A, NM_001144939.1:c.*8G>A, NM_001144940.2:c.297G>A, NM_001144940.1:c.297G>A, NM_001144941.2:c.201G>A, NM_001144941.1:c.201G>A, NP_872372.1:p.Gly106Asp

Select item 148366876015.

rs1483668760 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:4788043 (GRCh38)
17:4691338 (GRCh37)
Canonical SPDI:: NC_000017.11:4788042:T:C
Gene:: VMO1 (Varview), GLTPD2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.4788043T>C, NC_000017.10:g.4691338T>C

Select item 148317842316.

rs1483178423 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:4785388 (GRCh38)
17:4688683 (GRCh37)
Canonical SPDI:: NC_000017.11:4785387:C:A,NC_000017.11:4785387:C:T
Gene:: VMO1 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.4785388C>A, NC_000017.11:g.4785388C>T, NC_000017.10:g.4688683C>A, NC_000017.10:g.4688683C>T, NM_182566.3:c.583G>T, NM_182566.3:c.583G>A, NM_182566.2:c.583G>T, NM_182566.2:c.583G>A, NM_001144939.2:c.*274G>T, NM_001144939.2:c.*274G>A, NM_001144939.1:c.*274G>T, NM_001144939.1:c.*274G>A, NM_001144940.2:c.*254G>T, NM_001144940.2:c.*254G>A, NM_001144940.1:c.*254G>T, NM_001144940.1:c.*254G>A, NM_001144941.2:c.*254G>T, NM_001144941.2:c.*254G>A, NM_001144941.1:c.*254G>T, NM_001144941.1:c.*254G>A, NP_872372.1:p.Ala195Ser, NP_872372.1:p.Ala195Thr

Select item 148148364517.

rs1481483645 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:4786176 (GRCh38)
17:4689471 (GRCh37)
Canonical SPDI:: NC_000017.11:4786175:G:A
Gene:: VMO1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.4786176G>A, NC_000017.10:g.4689471G>A, NM_182566.3:c.177C>T, NM_182566.2:c.177C>T, NM_001144939.2:c.177C>T, NM_001144939.1:c.177C>T, NM_001144940.2:c.177C>T, NM_001144940.1:c.177C>T, NM_001144941.2:c.177C>T, NM_001144941.1:c.177C>T

Select item 148003330418.

rs1480033304 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:4787447 (GRCh38)
17:4690742 (GRCh37)
Canonical SPDI:: NC_000017.11:4787446:G:C
Gene:: VMO1 (Varview), GLTPD2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.4787447G>C, NC_000017.10:g.4690742G>C

Select item 147970795819.

rs1479707958 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:4787866 (GRCh38)
17:4691161 (GRCh37)
Canonical SPDI:: NC_000017.11:4787865:T:C
Gene:: VMO1 (Varview), GLTPD2 (Varview)
Functional Consequence:: 2KB_upstream_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_000017.11:g.4787866T>C, NC_000017.10:g.4691161T>C

Select item 147939077620.

rs1479390776 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:4786185 (GRCh38)
17:4689480 (GRCh37)
Canonical SPDI:: NC_000017.11:4786184:T:A
Gene:: VMO1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.4786185T>A, NC_000017.10:g.4689480T>A, NM_182566.3:c.168A>T, NM_182566.2:c.168A>T, NM_001144939.2:c.168A>T, NM_001144939.1:c.168A>T, NM_001144940.2:c.168A>T, NM_001144940.1:c.168A>T, NM_001144941.2:c.168A>T, NM_001144941.1:c.168A>T

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