SNP Links for Gene (Select 51399) - SNP

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Select item 14914877811.

rs1491487781 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 11:119022958 (GRCh38)
11:118893669 (GRCh37)
Canonical SPDI:: NC_000011.10:119022958:T:TGT
Gene:: TRAPPC4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGT=0./0 (ALFA)
TG=0.00009/2 (TOMMO)
HGVS:: NC_000011.10:g.119022959_119022960insGT, NC_000011.9:g.118893669_118893670insGT, NG_013331.1:g.12947_12948insCA, NW_009646203.1:g.44559_44560insGT, NW_003871076.1:g.44559_44560insGT

Select item 14914373232.

rs1491437323 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTT [Show Flanks]
Chromosome:: 11:119024100 (GRCh38)
11:118894811 (GRCh37)
Canonical SPDI:: NC_000011.10:119024100:TGTT:TGTTGTT
Gene:: SLC37A4 (Varview), TRAPPC4 (Varview)
Functional Consequence:: downstream_transcript_variant,3_prime_UTR_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: TGTTGTT=0./0 (ALFA)
TGT=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.119024102_119024104dup, NC_000011.9:g.118894812_118894814dup, NG_013331.1:g.11803_11805dup, NW_009646203.1:g.45702_45704dup, NW_003871076.1:g.45702_45704dup, NM_016146.6:c.*703_*705dup, NM_001318492.2:c.*703_*705dup, NM_001318486.2:c.*703_*705dup, NM_001318488.2:c.*703_*705dup, NM_001318490.2:c.*703_*705dup, NM_001318489.2:c.*703_*705dup, NM_001318494.2:c.*703_*705dup, XM_047427114.1:c.*703_*705dup

Select item 14913919673.

rs1491391967 has merged into rs71048033 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTGGGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTT,TTTTTTGGTGGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 11:119022978 (GRCh38)
11:118893688 (GRCh37)
Canonical SPDI:: NC_000011.10:119022957:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:119022957:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000011.10:119022957:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:119022957:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:119022957:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:119022957:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTGGGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:119022957:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:119022957:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTGGTGGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:119022957:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:119022957:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:119022957:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:119022957:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:119022957:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:119022957:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:119022957:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:119022957:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:119022957:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:119022957:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:119022957:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:119022957:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:119022957:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:119022957:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:119022957:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:119022957:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:119022957:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:119022957:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:119022957:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:119022957:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:119022957:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:119022957:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:119022957:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:119022957:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: TRAPPC4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.475/19 (GENOME_DK)
HGVS:: NC_000011.10:g.119022978_119022980del, NC_000011.10:g.119022979_119022980del, NC_000011.10:g.119022980del, NC_000011.10:g.119022980dup, NC_000011.10:g.119022979_119022980dup, NC_000011.10:g.119022958_119022980T[25]G[4]T[39], NC_000011.10:g.119022978_119022980dup, NC_000011.10:g.119022958_119022980T[26]GGTGGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000011.10:g.119022977_119022980dup, NC_000011.10:g.119022976_119022980dup, NC_000011.10:g.119022975_119022980dup, NC_000011.10:g.119022974_119022980dup, NC_000011.10:g.119022973_119022980dup, NC_000011.10:g.119022972_119022980dup, NC_000011.10:g.119022971_119022980dup, NC_000011.10:g.119022970_119022980dup, NC_000011.10:g.119022969_119022980dup, NC_000011.10:g.119022968_119022980dup, NC_000011.10:g.119022967_119022980dup, NC_000011.10:g.119022966_119022980dup, NC_000011.10:g.119022965_119022980dup, NC_000011.10:g.119022964_119022980dup, NC_000011.10:g.119022963_119022980dup, NC_000011.10:g.119022962_119022980dup, NC_000011.10:g.119022961_119022980dup, NC_000011.10:g.119022960_119022980dup, NC_000011.10:g.119022959_119022980dup, NC_000011.10:g.119022958_119022980dup, NC_000011.10:g.119022980_119022981insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.119022980_119022981insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.119022980_119022981insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.119022980_119022981insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.118893688_118893690del, NC_000011.9:g.118893689_118893690del, NC_000011.9:g.118893690del, NC_000011.9:g.118893690dup, NC_000011.9:g.118893689_118893690dup, NC_000011.9:g.118893668_118893690T[25]G[4]T[39], NC_000011.9:g.118893688_118893690dup, NC_000011.9:g.118893668_118893690T[26]GGTGGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000011.9:g.118893687_118893690dup, NC_000011.9:g.118893686_118893690dup, NC_000011.9:g.118893685_118893690dup, NC_000011.9:g.118893684_118893690dup, NC_000011.9:g.118893683_118893690dup, NC_000011.9:g.118893682_118893690dup, NC_000011.9:g.118893681_118893690dup, NC_000011.9:g.118893680_118893690dup, NC_000011.9:g.118893679_118893690dup, NC_000011.9:g.118893678_118893690dup, NC_000011.9:g.118893677_118893690dup, NC_000011.9:g.118893676_118893690dup, NC_000011.9:g.118893675_118893690dup, NC_000011.9:g.118893674_118893690dup, NC_000011.9:g.118893673_118893690dup, NC_000011.9:g.118893672_118893690dup, NC_000011.9:g.118893671_118893690dup, NC_000011.9:g.118893670_118893690dup, NC_000011.9:g.118893669_118893690dup, NC_000011.9:g.118893668_118893690dup, NC_000011.9:g.118893690_118893691insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.118893690_118893691insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.118893690_118893691insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.118893690_118893691insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_013331.1:g.12946_12948del, NG_013331.1:g.12947_12948del, NG_013331.1:g.12948del, NG_013331.1:g.12948dup, NG_013331.1:g.12947_12948dup, NG_013331.1:g.12926_12948A[39]C[4]A[25], NG_013331.1:g.12946_12948dup, NG_013331.1:g.12926_12948A[40]CCCACCAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_013331.1:g.12945_12948dup, NG_013331.1:g.12944_12948dup, NG_013331.1:g.12943_12948dup, NG_013331.1:g.12942_12948dup, NG_013331.1:g.12941_12948dup, NG_013331.1:g.12940_12948dup, NG_013331.1:g.12939_12948dup, NG_013331.1:g.12938_12948dup, NG_013331.1:g.12937_12948dup, NG_013331.1:g.12936_12948dup, NG_013331.1:g.12935_12948dup, NG_013331.1:g.12934_12948dup, NG_013331.1:g.12933_12948dup, NG_013331.1:g.12932_12948dup, NG_013331.1:g.12931_12948dup, NG_013331.1:g.12930_12948dup, NG_013331.1:g.12929_12948dup, NG_013331.1:g.12928_12948dup, NG_013331.1:g.12927_12948dup, NG_013331.1:g.12926_12948dup, NG_013331.1:g.12948_12949insAAAAAAAAAAAAAAAAAAAAAAAAA, NG_013331.1:g.12948_12949insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_013331.1:g.12948_12949insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_013331.1:g.12948_12949insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NW_009646203.1:g.44578_44580del, NW_009646203.1:g.44579_44580del, NW_009646203.1:g.44580del, NW_009646203.1:g.44580dup, NW_009646203.1:g.44579_44580dup, NW_009646203.1:g.44558_44580T[25]G[4]T[39], NW_009646203.1:g.44578_44580dup, NW_009646203.1:g.44558_44580T[26]GGTGGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NW_009646203.1:g.44577_44580dup, NW_009646203.1:g.44576_44580dup, NW_009646203.1:g.44575_44580dup, NW_009646203.1:g.44574_44580dup, NW_009646203.1:g.44573_44580dup, NW_009646203.1:g.44572_44580dup, NW_009646203.1:g.44571_44580dup, NW_009646203.1:g.44570_44580dup, NW_009646203.1:g.44569_44580dup, NW_009646203.1:g.44568_44580dup, NW_009646203.1:g.44567_44580dup, NW_009646203.1:g.44566_44580dup, NW_009646203.1:g.44565_44580dup, NW_009646203.1:g.44564_44580dup, NW_009646203.1:g.44563_44580dup, NW_009646203.1:g.44562_44580dup, NW_009646203.1:g.44561_44580dup, NW_009646203.1:g.44560_44580dup, NW_009646203.1:g.44559_44580dup, NW_009646203.1:g.44558_44580dup, NW_009646203.1:g.44580_44581insTTTTTTTTTTTTTTTTTTTTTTTTT, NW_009646203.1:g.44580_44581insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_009646203.1:g.44580_44581insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_009646203.1:g.44580_44581insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_003871076.1:g.44578_44580del, NW_003871076.1:g.44579_44580del, NW_003871076.1:g.44580del, NW_003871076.1:g.44580dup, NW_003871076.1:g.44579_44580dup, NW_003871076.1:g.44558_44580T[25]G[4]T[39], NW_003871076.1:g.44578_44580dup, NW_003871076.1:g.44558_44580T[26]GGTGGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NW_003871076.1:g.44577_44580dup, NW_003871076.1:g.44576_44580dup, NW_003871076.1:g.44575_44580dup, NW_003871076.1:g.44574_44580dup, NW_003871076.1:g.44573_44580dup, NW_003871076.1:g.44572_44580dup, NW_003871076.1:g.44571_44580dup, NW_003871076.1:g.44570_44580dup, NW_003871076.1:g.44569_44580dup, NW_003871076.1:g.44568_44580dup, NW_003871076.1:g.44567_44580dup, NW_003871076.1:g.44566_44580dup, NW_003871076.1:g.44565_44580dup, NW_003871076.1:g.44564_44580dup, NW_003871076.1:g.44563_44580dup, NW_003871076.1:g.44562_44580dup, NW_003871076.1:g.44561_44580dup, NW_003871076.1:g.44560_44580dup, NW_003871076.1:g.44559_44580dup, NW_003871076.1:g.44558_44580dup, NW_003871076.1:g.44580_44581insTTTTTTTTTTTTTTTTTTTTTTTTT, NW_003871076.1:g.44580_44581insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_003871076.1:g.44580_44581insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_003871076.1:g.44580_44581insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14913851944.

rs1491385194 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 11:119017258 (GRCh38)
11:118887968 (GRCh37)
Canonical SPDI:: NC_000011.10:119017257:CT:
Gene:: RPS25 (Varview), TRAPPC4 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000093/13 (GnomAD)
HGVS:: NC_000011.10:g.119017258_119017259del, NC_000011.9:g.118887968_118887969del, NG_050577.1:g.27906_27907del, NW_009646203.1:g.38858_38859del, NW_003871076.1:g.38858_38859del

Select item 14913351145.

rs1491335114 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 11:119024100 (GRCh38)
11:118894810 (GRCh37)
Canonical SPDI:: NC_000011.10:119024099:CT:
Gene:: SLC37A4 (Varview), TRAPPC4 (Varview)
Functional Consequence:: downstream_transcript_variant,3_prime_UTR_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.119024100_119024101del, NC_000011.9:g.118894810_118894811del, NG_013331.1:g.11805_11806del, NW_009646203.1:g.45700_45701del, NW_003871076.1:g.45700_45701del, NM_016146.6:c.*701_*702del, NM_001318492.2:c.*701_*702del, NM_001318486.2:c.*701_*702del, NM_001318488.2:c.*701_*702del, NM_001318490.2:c.*701_*702del, NM_001318489.2:c.*701_*702del, NM_001318494.2:c.*701_*702del, XM_047427114.1:c.*701_*702del

Select item 14909891436.

rs1490989143 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:119018948 (GRCh38)
11:118889658 (GRCh37)
Canonical SPDI:: NC_000011.10:119018947:C:G,NC_000011.10:119018947:C:T
Gene:: RPS25 (Varview), TRAPPC4 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,2KB_upstream_variant,missense_variant,5_prime_UTR_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.119018948C>G, NC_000011.10:g.119018948C>T, NC_000011.9:g.118889658C>G, NC_000011.9:g.118889658C>T, NW_009646203.1:g.40548C>G, NW_009646203.1:g.40548C>T, NW_003871076.1:g.40548C>G, NW_003871076.1:g.40548C>T, NM_016146.6:c.153C>G, NM_016146.6:c.153C>T, NM_016146.5:c.153C>G, NM_016146.5:c.153C>T, NM_016146.4:c.153C>G, NM_016146.4:c.153C>T, NM_001318492.2:c.-270C>G, NM_001318492.2:c.-270C>T, NM_001318492.1:c.-270C>G, NM_001318492.1:c.-270C>T, NM_001318486.2:c.-62C>G, NM_001318486.2:c.-62C>T, NM_001318486.1:c.-62C>G, NM_001318486.1:c.-62C>T, NM_001318488.2:c.153C>G, NM_001318488.2:c.153C>T, NM_001318488.1:c.153C>G, NM_001318488.1:c.153C>T, NM_001318490.2:c.153C>G, NM_001318490.2:c.153C>T, NM_001318490.1:c.153C>G, NM_001318490.1:c.153C>T, NM_001318489.2:c.153C>G, NM_001318489.2:c.153C>T, NM_001318489.1:c.153C>G, NM_001318489.1:c.153C>T, NM_001318494.2:c.153C>G, NM_001318494.2:c.153C>T, NM_001318494.1:c.153C>G, NM_001318494.1:c.153C>T, NR_037429.1:n.5C>G, NR_037429.1:n.5C>T, NP_057230.1:p.Phe51Leu, NP_001305417.1:p.Phe51Leu, NP_001305419.1:p.Phe51Leu, NP_001305418.1:p.Phe51Leu, NP_001305423.1:p.Phe51Leu

Select item 14906230077.

rs1490623007 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:119018555 (GRCh38)
11:118889265 (GRCh37)
Canonical SPDI:: NC_000011.10:119018554:C:T
Gene:: RPS25 (Varview), TRAPPC4 (Varview)
Functional Consequence:: 2KB_upstream_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_000011.10:g.119018555C>T, NC_000011.9:g.118889265C>T, NW_009646203.1:g.40155C>T, NW_003871076.1:g.40155C>T, NM_016146.5:c.-241C>T, NM_016146.4:c.-241C>T, NM_001318492.1:c.-663C>T, NM_001318486.1:c.-455C>T, NM_001318488.1:c.-241C>T, NM_001318490.1:c.-241C>T, NM_001318494.1:c.-241C>T, NM_001318489.1:c.-241C>T

Select item 14905732278.

rs1490573227 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:119016914 (GRCh38)
11:118887624 (GRCh37)
Canonical SPDI:: NC_000011.10:119016913:T:C
Gene:: RPS25 (Varview), TRAPPC4 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.119016914T>C, NC_000011.9:g.118887624T>C, NG_050577.1:g.27562T>C, NW_009646203.1:g.38514T>C, NW_003871076.1:g.38514T>C

Select item 14901086619.

rs1490108661 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:119018311 (GRCh38)
11:118889021 (GRCh37)
Canonical SPDI:: NC_000011.10:119018310:C:T
Gene:: RPS25 (Varview), TRAPPC4 (Varview)
Functional Consequence:: 5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.119018311C>T, NC_000011.9:g.118889021C>T, NW_009646203.1:g.39911C>T, NW_003871076.1:g.39911C>T, NM_001028.3:c.-27G>A, NM_001028.2:c.-27G>A

Select item 148994446010.

rs1489944460 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:119018943 (GRCh38)
11:118889653 (GRCh37)
Canonical SPDI:: NC_000011.10:119018942:G:T
Gene:: RPS25 (Varview), TRAPPC4 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,2KB_upstream_variant,missense_variant,5_prime_UTR_variant,upstream_transcript_variant
HGVS:: NC_000011.10:g.119018943G>T, NC_000011.9:g.118889653G>T, NW_009646203.1:g.40543G>T, NW_003871076.1:g.40543G>T, NM_016146.6:c.148G>T, NM_016146.5:c.148G>T, NM_016146.4:c.148G>T, NM_001318492.2:c.-275G>T, NM_001318492.1:c.-275G>T, NM_001318486.2:c.-67G>T, NM_001318486.1:c.-67G>T, NM_001318488.2:c.148G>T, NM_001318488.1:c.148G>T, NM_001318490.2:c.148G>T, NM_001318490.1:c.148G>T, NM_001318489.2:c.148G>T, NM_001318489.1:c.148G>T, NM_001318494.2:c.148G>T, NM_001318494.1:c.148G>T, NP_057230.1:p.Ala50Ser, NP_001305417.1:p.Ala50Ser, NP_001305419.1:p.Ala50Ser, NP_001305418.1:p.Ala50Ser, NP_001305423.1:p.Ala50Ser

Select item 148983647611.

rs1489836476 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 11:119019684 (GRCh38)
11:118890394 (GRCh37)
Canonical SPDI:: NC_000011.10:119019683:A:C,NC_000011.10:119019683:A:G
Gene:: RPS25 (Varview), TRAPPC4 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
C=0.002729/5 (Korea1K)
HGVS:: NC_000011.10:g.119019684A>C, NC_000011.10:g.119019684A>G, NC_000011.9:g.118890394A>C, NC_000011.9:g.118890394A>G, NW_009646203.1:g.41284A>C, NW_009646203.1:g.41284A>G, NW_003871076.1:g.41284A>C, NW_003871076.1:g.41284A>G

Select item 148946929012.

rs1489469290 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:119020825 (GRCh38)
11:118891535 (GRCh37)
Canonical SPDI:: NC_000011.10:119020824:C:T
Gene:: TRAPPC4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.119020825C>T, NC_000011.9:g.118891535C>T, NW_009646203.1:g.42425C>T, NW_003871076.1:g.42425C>T

Select item 148930769113.

rs1489307691 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:119023920 (GRCh38)
11:118894630 (GRCh37)
Canonical SPDI:: NC_000011.10:119023919:A:G
Gene:: SLC37A4 (Varview), TRAPPC4 (Varview)
Functional Consequence:: downstream_transcript_variant,3_prime_UTR_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.119023920A>G, NC_000011.9:g.118894630A>G, NG_013331.1:g.11986T>C, NW_009646203.1:g.45520A>G, NW_003871076.1:g.45520A>G, NM_016146.6:c.*521A>G, NM_001318492.2:c.*521A>G, NM_001318486.2:c.*521A>G, NM_001318488.2:c.*521A>G, NM_001318490.2:c.*521A>G, NM_001318489.2:c.*521A>G, NM_001318494.2:c.*521A>G, XM_047427114.1:c.*521A>G

Select item 148919814014.

rs1489198140 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:119022969 (GRCh38)
11:118893679 (GRCh37)
Canonical SPDI:: NC_000011.10:119022968:T:G
Gene:: TRAPPC4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (Korea1K)
G=0.000031/4 (GnomAD)
G=0.000827/13 (TOMMO)
G=0.001369/4 (KOREAN)
HGVS:: NC_000011.10:g.119022969T>G, NC_000011.9:g.118893679T>G, NG_013331.1:g.12937A>C, NW_009646203.1:g.44569T>G, NW_003871076.1:g.44569T>G

Select item 148916887315.

rs1489168873 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:119020925 (GRCh38)
11:118891635 (GRCh37)
Canonical SPDI:: NC_000011.10:119020924:G:A
Gene:: TRAPPC4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.119020925G>A, NC_000011.9:g.118891635G>A, NW_009646203.1:g.42525G>A, NW_003871076.1:g.42525G>A

Select item 148912676316.

rs1489126763 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 11:119022306 (GRCh38)
11:118893016 (GRCh37)
Canonical SPDI:: NC_000011.10:119022305:A:C,NC_000011.10:119022305:A:G
Gene:: TRAPPC4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000011.10:g.119022306A>C, NC_000011.10:g.119022306A>G, NC_000011.9:g.118893016A>C, NC_000011.9:g.118893016A>G, NW_009646203.1:g.43906A>C, NW_009646203.1:g.43906A>G, NW_003871076.1:g.43906A>C, NW_003871076.1:g.43906A>G

Select item 148827860117.

rs1488278601 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:119018527 (GRCh38)
11:118889237 (GRCh37)
Canonical SPDI:: NC_000011.10:119018526:G:A,NC_000011.10:119018526:G:C
Gene:: RPS25 (Varview), TRAPPC4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.02941/1 (GnomAD)
HGVS:: NC_000011.10:g.119018527G>A, NC_000011.10:g.119018527G>C, NC_000011.9:g.118889237G>A, NC_000011.9:g.118889237G>C, NW_009646203.1:g.40127G>A, NW_009646203.1:g.40127G>C, NW_003871076.1:g.40127G>A, NW_003871076.1:g.40127G>C, NM_016146.5:c.-269G>A, NM_016146.5:c.-269G>C, NM_001318492.1:c.-691G>A, NM_001318492.1:c.-691G>C, NM_001318486.1:c.-483G>A, NM_001318486.1:c.-483G>C, NM_001318488.1:c.-269G>A, NM_001318488.1:c.-269G>C, NM_001318490.1:c.-269G>A, NM_001318490.1:c.-269G>C, NM_001318494.1:c.-269G>A, NM_001318494.1:c.-269G>C, NM_001318489.1:c.-269G>A, NM_001318489.1:c.-269G>C

Select item 148818992318.

rs1488189923 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:119018106 (GRCh38)
11:118888816 (GRCh37)
Canonical SPDI:: NC_000011.10:119018105:C:A
Gene:: RPS25 (Varview), TRAPPC4 (Varview)
Functional Consequence:: intron_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=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.119018106C>A, NC_000011.9:g.118888816C>A, NW_009646203.1:g.39706C>A, NW_003871076.1:g.39706C>A

Select item 148817473219.

rs1488174732 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:119021938 (GRCh38)
11:118892648 (GRCh37)
Canonical SPDI:: NC_000011.10:119021937:G:A,NC_000011.10:119021937:G:T
Gene:: TRAPPC4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.119021938G>A, NC_000011.10:g.119021938G>T, NC_000011.9:g.118892648G>A, NC_000011.9:g.118892648G>T, NW_009646203.1:g.43538G>A, NW_009646203.1:g.43538G>T, NW_003871076.1:g.43538G>A, NW_003871076.1:g.43538G>T

Select item 148812593720.

rs1488125937 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:119022765 (GRCh38)
11:118893475 (GRCh37)
Canonical SPDI:: NC_000011.10:119022764:C:G,NC_000011.10:119022764:C:T
Gene:: TRAPPC4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000008/1 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000011.10:g.119022765C>G, NC_000011.10:g.119022765C>T, NC_000011.9:g.118893475C>G, NC_000011.9:g.118893475C>T, NG_013331.1:g.13141G>C, NG_013331.1:g.13141G>A, NW_009646203.1:g.44365C>G, NW_009646203.1:g.44365C>T, NW_003871076.1:g.44365C>G, NW_003871076.1:g.44365C>T

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