SNP Links for Gene (Select 55262) - SNP

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Items: 1 to 20 of 2126

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Select item 14906351241.

rs1490635124 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:100156134 (GRCh38)
7:99753757 (GRCh37)
Canonical SPDI:: NC_000007.14:100156133:T:G
Gene:: TRAPPC14 (Varview), MIR4658 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.100156134T>G, NC_000007.13:g.99753757T>G

Select item 14904076642.

rs1490407664 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 7:100158527 (GRCh38)
7:99756150 (GRCh37)
Canonical SPDI:: NC_000007.14:100158526:G:C,NC_000007.14:100158526:G:T
Gene:: TRAPPC14 (Varview), MIR4658 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0007/3 (ALFA)
T=0.0007/3 (Estonian)
HGVS:: NC_000007.14:g.100158527G>C, NC_000007.14:g.100158527G>T, NC_000007.13:g.99756150G>C, NC_000007.13:g.99756150G>T, NM_018275.5:c.-28C>G, NM_018275.5:c.-28C>A, NM_018275.4:c.-28C>G, NM_018275.4:c.-28C>A, NM_018275.3:c.-28C>G, NM_018275.3:c.-28C>A

Select item 14892363063.

rs1489236306 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:100154985 (GRCh38)
7:99752608 (GRCh37)
Canonical SPDI:: NC_000007.14:100154984:T:G
Gene:: TRAPPC14 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.100154985T>G, NC_000007.13:g.99752608T>G, NM_018275.5:c.*26A>C, NM_018275.4:c.*26A>C, NM_018275.3:c.*26A>C, NM_001303470.2:c.*26A>C, NM_001303470.1:c.*26A>C

Select item 14890293654.

rs1489029365 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:100157409 (GRCh38)
7:99755032 (GRCh37)
Canonical SPDI:: NC_000007.14:100157408:A:G
Gene:: TRAPPC14 (Varview), MIR4658 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.100157409A>G, NC_000007.13:g.99755032A>G, NM_018275.5:c.688T>C, NM_018275.4:c.688T>C, NM_018275.3:c.688T>C, NM_001303470.2:c.-120T>C, NM_001303470.1:c.-120T>C, NP_060745.3:p.Phe230Leu

Select item 14889776095.

rs1488977609 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:100158224 (GRCh38)
7:99755847 (GRCh37)
Canonical SPDI:: NC_000007.14:100158223:C:G
Gene:: TRAPPC14 (Varview), MIR4658 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
HGVS:: NC_000007.14:g.100158224C>G, NC_000007.13:g.99755847C>G, NM_018275.5:c.276G>C, NM_018275.4:c.276G>C, NM_018275.3:c.276G>C

Select item 14884262816.

rs1488426281 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:100154506 (GRCh38)
7:99752129 (GRCh37)
Canonical SPDI:: NC_000007.14:100154505:A:G
Gene:: TRAPPC14 (Varview), LAMTOR4 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.100154506A>G, NC_000007.13:g.99752129A>G, NM_018275.5:c.*505T>C, NM_018275.4:c.*505T>C, NM_018275.3:c.*505T>C, NM_001303470.2:c.*505T>C, NM_001303470.1:c.*505T>C

Select item 14881759467.

rs1488175946 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:100159140 (GRCh38)
7:99756763 (GRCh37)
Canonical SPDI:: NC_000007.14:100159139:G:A
Gene:: TRAPPC14 (Varview), GAL3ST4 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.100159140G>A, NC_000007.13:g.99756763G>A

Select item 14880674638.

rs1488067463 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:100158235 (GRCh38)
7:99755858 (GRCh37)
Canonical SPDI:: NC_000007.14:100158234:C:T
Gene:: TRAPPC14 (Varview), MIR4658 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: T=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.100158235C>T, NC_000007.13:g.99755858C>T, NM_018275.5:c.265G>A, NM_018275.4:c.265G>A, NM_018275.3:c.265G>A, NP_060745.3:p.Gly89Ser

Select item 14879755149.

rs1487975514 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:100160258 (GRCh38)
7:99757881 (GRCh37)
Canonical SPDI:: NC_000007.14:100160257:G:C
Gene:: TRAPPC14 (Varview), GAL3ST4 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.100160258G>C, NC_000007.13:g.99757881G>C, NM_024637.5:c.1131C>G, NM_024637.4:c.1131C>G

Select item 148762162510.

rs1487621625 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:100158934 (GRCh38)
7:99756557 (GRCh37)
Canonical SPDI:: NC_000007.14:100158933:C:T
Gene:: TRAPPC14 (Varview), GAL3ST4 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.100158934C>T, NC_000007.13:g.99756557C>T

Select item 148722618211.

rs1487226182 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:100156727 (GRCh38)
7:99754350 (GRCh37)
Canonical SPDI:: NC_000007.14:100156726:G:A
Gene:: TRAPPC14 (Varview), MIR4658 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000108/2 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.000446/2 (Estonian)
HGVS:: NC_000007.14:g.100156727G>A, NC_000007.13:g.99754350G>A

Select item 148708769712.

rs1487087697 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:100159898 (GRCh38)
7:99757521 (GRCh37)
Canonical SPDI:: NC_000007.14:100159897:G:A
Gene:: TRAPPC14 (Varview), GAL3ST4 (Varview)
Functional Consequence:: 3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.100159898G>A, NC_000007.13:g.99757521G>A, NM_024637.5:c.*30C>T, NM_024637.4:c.*30C>T

Select item 148684910113.

rs1486849101 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 7:100155930 (GRCh38)
7:99753553 (GRCh37)
Canonical SPDI:: NC_000007.14:100155928:AAA:A
Gene:: TRAPPC14 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000012/3 (GnomAD_exomes)
-=0.0001/14 (GnomAD)
-=0.00011/29 (TOPMED)
HGVS:: NC_000007.14:g.100155930_100155931del, NC_000007.13:g.99753553_99753554del

Select item 148679893114.

rs1486798931 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:100156992 (GRCh38)
7:99754615 (GRCh37)
Canonical SPDI:: NC_000007.14:100156991:A:T
Gene:: TRAPPC14 (Varview), MIR4658 (Varview)
Functional Consequence:: stop_gained,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.100156992A>T, NC_000007.13:g.99754615A>T, NM_018275.5:c.846T>A, NM_018275.4:c.846T>A, NM_018275.3:c.846T>A, NM_001303470.2:c.39T>A, NM_001303470.1:c.39T>A, NP_060745.3:p.Cys282Ter, NP_001290399.1:p.Cys13Ter

Select item 148679035515.

rs1486790355 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:100155820 (GRCh38)
7:99753443 (GRCh37)
Canonical SPDI:: NC_000007.14:100155819:G:C
Gene:: TRAPPC14 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.100155820G>C, NC_000007.13:g.99753443G>C, NM_018275.5:c.1246C>G, NM_018275.4:c.1246C>G, NM_018275.3:c.1246C>G, NM_001303470.2:c.439C>G, NM_001303470.1:c.439C>G, NP_060745.3:p.Gln416Glu, NP_001290399.1:p.Gln147Glu

Select item 148666835116.

rs1486668351 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:100158706 (GRCh38)
7:99756329 (GRCh37)
Canonical SPDI:: NC_000007.14:100158705:T:C
Gene:: TRAPPC14 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.100158706T>C, NC_000007.13:g.99756329T>C, NM_018275.5:c.-207A>G, NM_018275.4:c.-207A>G, NM_001303470.2:c.-514A>G, NM_001303470.1:c.-514A>G

Select item 148637511117.

rs1486375111 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:100159009 (GRCh38)
7:99756632 (GRCh37)
Canonical SPDI:: NC_000007.14:100159008:T:G
Gene:: TRAPPC14 (Varview), GAL3ST4 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.100159009T>G, NC_000007.13:g.99756632T>G

Select item 148610192318.

rs1486101923 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:100154821 (GRCh38)
7:99752444 (GRCh37)
Canonical SPDI:: NC_000007.14:100154820:C:T
Gene:: TRAPPC14 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.100154821C>T, NC_000007.13:g.99752444C>T, NM_018275.5:c.*190G>A, NM_018275.4:c.*190G>A, NM_018275.3:c.*190G>A, NM_001303470.2:c.*190G>A, NM_001303470.1:c.*190G>A

Select item 148587630819.

rs1485876308 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:100156566 (GRCh38)
7:99754189 (GRCh37)
Canonical SPDI:: NC_000007.14:100156565:A:G
Gene:: TRAPPC14 (Varview), MIR4658 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.100156566A>G, NC_000007.13:g.99754189A>G

Select item 148582462520.

rs1485824625 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:100157291 (GRCh38)
7:99754914 (GRCh37)
Canonical SPDI:: NC_000007.14:100157290:A:C
Gene:: TRAPPC14 (Varview), MIR4658 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.004372/8 (Korea1K)
HGVS:: NC_000007.14:g.100157291A>C, NC_000007.13:g.99754914A>C

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