SNP Links for Gene (Select 6399) - SNP

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Select item 14915403401.

rs1491540340 [Homo sapiens]

Variant type:: INS
Alleles:: ->G,GC,GCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG,GCAAAAAAAAAAAAG,GCAGC,GCC [Show Flanks]
Chromosome:: X:13722209 (GRCh38)
X:13740329 (GRCh37)
Canonical SPDI:: NC_000023.11:13722209::G,NC_000023.11:13722209::GC,NC_000023.11:13722209::GCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG,NC_000023.11:13722209::GCAAAAAAAAAAAAG,NC_000023.11:13722209::GCAGC,NC_000023.11:13722209::GCC
Gene:: TRAPPC2 (Varview), OFD1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GC=0./0 (ALFA)
-=0.25/2 (KOREAN)
HGVS:: NC_000023.11:g.13722209_13722210insG, NC_000023.11:g.13722209_13722210insGC, NC_000023.11:g.13722209_13722210insGCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG, NC_000023.11:g.13722209_13722210insGCAAAAAAAAAAAAG, NC_000023.11:g.13722209_13722210insGCAGC, NC_000023.11:g.13722209_13722210insGCC, NC_000023.10:g.13740328_13740329insG, NC_000023.10:g.13740328_13740329insGC, NC_000023.10:g.13740328_13740329insGCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG, NC_000023.10:g.13740328_13740329insGCAAAAAAAAAAAAG, NC_000023.10:g.13740328_13740329insGCAGC, NC_000023.10:g.13740328_13740329insGCC, NG_011555.1:g.17414_17415insC, NG_011555.1:g.17414_17415insGC, NG_011555.1:g.17414_17415insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGC, NG_011555.1:g.17414_17415insCTTTTTTTTTTTTGC, NG_011555.1:g.17414_17415insGCTGC, NG_011555.1:g.17414_17415insGGC

Select item 14914859212.

rs1491485921 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: X:13713458 (GRCh38)
X:13731577 (GRCh37)
Canonical SPDI:: NC_000023.11:13713456:ACA:A
Gene:: TRAPPC2 (Varview), OFD1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.00002/2 (GnomAD)
HGVS:: NC_000023.11:g.13713458_13713459del, NC_000023.10:g.13731577_13731578del, NG_011555.1:g.26166_26167del, NM_014563.6:c.*949_*950del, NM_014563.5:c.*949_*950del, NM_001011658.4:c.*949_*950del, NM_001011658.3:c.*949_*950del, NM_001128835.3:c.*949_*950del, NM_001128835.2:c.*949_*950del, XM_011545566.3:c.*949_*950del, XM_011545566.2:c.*949_*950del, XM_011545566.1:c.*949_*950del, XM_047442352.1:c.*949_*950del, XM_047442351.1:c.*949_*950del

Select item 14913621253.

rs1491362125 has merged into rs748574644 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: X:13722219 (GRCh38)
X:13740338 (GRCh37)
Canonical SPDI:: NC_000023.11:13722208:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000023.11:13722208:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:13722208:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000023.11:13722208:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:13722208:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000023.11:13722208:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:13722208:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000023.11:13722208:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000023.11:13722208:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000023.11:13722208:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000023.11:13722208:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:13722208:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:13722208:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:13722208:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:13722208:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:13722208:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:13722208:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:13722208:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:13722208:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:13722208:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:13722208:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:13722208:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:13722208:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:13722208:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:13722208:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:13722208:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:13722208:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:13722208:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:13722208:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:13722208:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:13722208:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:13722208:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:13722208:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:13722208:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:13722208:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:13722208:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:13722208:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:13722208:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:13722208:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:13722208:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:13722208:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:13722208:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:13722208:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:13722208:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:13722208:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: TRAPPC2 (Varview), OFD1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000023.11:g.13722219_13722234del, NC_000023.11:g.13722222_13722234del, NC_000023.11:g.13722223_13722234del, NC_000023.11:g.13722224_13722234del, NC_000023.11:g.13722225_13722234del, NC_000023.11:g.13722226_13722234del, NC_000023.11:g.13722227_13722234del, NC_000023.11:g.13722228_13722234del, NC_000023.11:g.13722229_13722234del, NC_000023.11:g.13722230_13722234del, NC_000023.11:g.13722231_13722234del, NC_000023.11:g.13722232_13722234del, NC_000023.11:g.13722233_13722234del, NC_000023.11:g.13722234del, NC_000023.11:g.13722234dup, NC_000023.11:g.13722233_13722234dup, NC_000023.11:g.13722232_13722234dup, NC_000023.11:g.13722231_13722234dup, NC_000023.11:g.13722229_13722234dup, NC_000023.11:g.13722228_13722234dup, NC_000023.11:g.13722227_13722234dup, NC_000023.11:g.13722226_13722234dup, NC_000023.11:g.13722225_13722234dup, NC_000023.11:g.13722224_13722234dup, NC_000023.11:g.13722223_13722234dup, NC_000023.11:g.13722222_13722234dup, NC_000023.11:g.13722221_13722234dup, NC_000023.11:g.13722220_13722234dup, NC_000023.11:g.13722219_13722234dup, NC_000023.11:g.13722218_13722234dup, NC_000023.11:g.13722217_13722234dup, NC_000023.11:g.13722216_13722234dup, NC_000023.11:g.13722215_13722234dup, NC_000023.11:g.13722214_13722234dup, NC_000023.11:g.13722213_13722234dup, NC_000023.11:g.13722212_13722234dup, NC_000023.11:g.13722211_13722234dup, NC_000023.11:g.13722210_13722234dup, NC_000023.11:g.13722234_13722235insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.11:g.13722234_13722235insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.11:g.13722234_13722235insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.11:g.13722234_13722235insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.11:g.13722234_13722235insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.11:g.13722234_13722235insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.11:g.13722234_13722235insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.10:g.13740338_13740353del, NC_000023.10:g.13740341_13740353del, NC_000023.10:g.13740342_13740353del, NC_000023.10:g.13740343_13740353del, NC_000023.10:g.13740344_13740353del, NC_000023.10:g.13740345_13740353del, NC_000023.10:g.13740346_13740353del, NC_000023.10:g.13740347_13740353del, NC_000023.10:g.13740348_13740353del, NC_000023.10:g.13740349_13740353del, NC_000023.10:g.13740350_13740353del, NC_000023.10:g.13740351_13740353del, NC_000023.10:g.13740352_13740353del, NC_000023.10:g.13740353del, NC_000023.10:g.13740353dup, NC_000023.10:g.13740352_13740353dup, NC_000023.10:g.13740351_13740353dup, NC_000023.10:g.13740350_13740353dup, NC_000023.10:g.13740348_13740353dup, NC_000023.10:g.13740347_13740353dup, NC_000023.10:g.13740346_13740353dup, NC_000023.10:g.13740345_13740353dup, NC_000023.10:g.13740344_13740353dup, NC_000023.10:g.13740343_13740353dup, NC_000023.10:g.13740342_13740353dup, NC_000023.10:g.13740341_13740353dup, NC_000023.10:g.13740340_13740353dup, NC_000023.10:g.13740339_13740353dup, NC_000023.10:g.13740338_13740353dup, NC_000023.10:g.13740337_13740353dup, NC_000023.10:g.13740336_13740353dup, NC_000023.10:g.13740335_13740353dup, NC_000023.10:g.13740334_13740353dup, NC_000023.10:g.13740333_13740353dup, NC_000023.10:g.13740332_13740353dup, NC_000023.10:g.13740331_13740353dup, NC_000023.10:g.13740330_13740353dup, NC_000023.10:g.13740329_13740353dup, NC_000023.10:g.13740353_13740354insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.10:g.13740353_13740354insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.10:g.13740353_13740354insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.10:g.13740353_13740354insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.10:g.13740353_13740354insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.10:g.13740353_13740354insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.10:g.13740353_13740354insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_011555.1:g.17400_17415del, NG_011555.1:g.17403_17415del, NG_011555.1:g.17404_17415del, NG_011555.1:g.17405_17415del, NG_011555.1:g.17406_17415del, NG_011555.1:g.17407_17415del, NG_011555.1:g.17408_17415del, NG_011555.1:g.17409_17415del, NG_011555.1:g.17410_17415del, NG_011555.1:g.17411_17415del, NG_011555.1:g.17412_17415del, NG_011555.1:g.17413_17415del, NG_011555.1:g.17414_17415del, NG_011555.1:g.17415del, NG_011555.1:g.17415dup, NG_011555.1:g.17414_17415dup, NG_011555.1:g.17413_17415dup, NG_011555.1:g.17412_17415dup, NG_011555.1:g.17410_17415dup, NG_011555.1:g.17409_17415dup, NG_011555.1:g.17408_17415dup, NG_011555.1:g.17407_17415dup, NG_011555.1:g.17406_17415dup, NG_011555.1:g.17405_17415dup, NG_011555.1:g.17404_17415dup, NG_011555.1:g.17403_17415dup, NG_011555.1:g.17402_17415dup, NG_011555.1:g.17401_17415dup, NG_011555.1:g.17400_17415dup, NG_011555.1:g.17399_17415dup, NG_011555.1:g.17398_17415dup, NG_011555.1:g.17397_17415dup, NG_011555.1:g.17396_17415dup, NG_011555.1:g.17395_17415dup, NG_011555.1:g.17394_17415dup, NG_011555.1:g.17393_17415dup, NG_011555.1:g.17392_17415dup, NG_011555.1:g.17391_17415dup, NG_011555.1:g.17415_17416insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_011555.1:g.17415_17416insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_011555.1:g.17415_17416insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_011555.1:g.17415_17416insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_011555.1:g.17415_17416insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_011555.1:g.17415_17416insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_011555.1:g.17415_17416insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14909134764.

rs1490913476 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:13727479 (GRCh38)
X:13745598 (GRCh37)
Canonical SPDI:: NC_000023.11:13727478:C:T
Gene:: TRAPPC2 (Varview), OFD1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.13727479C>T, NC_000023.10:g.13745598C>T, NG_011555.1:g.12145G>A

Select item 14908024535.

rs1490802453 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:13714359 (GRCh38)
X:13732478 (GRCh37)
Canonical SPDI:: NC_000023.11:13714358:G:A
Gene:: TRAPPC2 (Varview), OFD1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000019/2 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000023.11:g.13714359G>A, NC_000023.10:g.13732478G>A, NG_011555.1:g.25265C>T, NM_014563.6:c.*48C>T, NM_014563.5:c.*48C>T, NM_001011658.4:c.*48C>T, NM_001011658.3:c.*48C>T, NM_001128835.3:c.*48C>T, NM_001128835.2:c.*48C>T, XM_011545566.3:c.*48C>T, XM_011545566.2:c.*48C>T, XM_011545566.1:c.*48C>T, XM_047442352.1:c.*48C>T, XM_047442351.1:c.*48C>T

Select item 14905816466.

rs1490581646 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: X:13730916 (GRCh38)
X:13749035 (GRCh37)
Canonical SPDI:: NC_000023.11:13730915:A:G,NC_000023.11:13730915:A:T
Gene:: TRAPPC2 (Varview), OFD1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00202/24 (ALFA)
T=0.00365/47 (TOMMO)
G=0.0807/235 (KOREAN)
HGVS:: NC_000023.11:g.13730916A>G, NC_000023.11:g.13730916A>T, NC_000023.10:g.13749035A>G, NC_000023.10:g.13749035A>T, NG_008872.1:g.1204A>G, NG_008872.1:g.1204A>T, NG_011555.1:g.8708T>C, NG_011555.1:g.8708T>A

Select item 14903681307.

rs1490368130 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:13732055 (GRCh38)
X:13750174 (GRCh37)
Canonical SPDI:: NC_000023.11:13732054:G:A
Gene:: TRAPPC2 (Varview), OFD1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.13732055G>A, NC_000023.10:g.13750174G>A, NG_008872.1:g.2343G>A, NG_011555.1:g.7569C>T

Select item 14902293398.

rs1490229339 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:13728272 (GRCh38)
X:13746391 (GRCh37)
Canonical SPDI:: NC_000023.11:13728271:C:T
Gene:: TRAPPC2 (Varview), OFD1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.13728272C>T, NC_000023.10:g.13746391C>T, NG_011555.1:g.11352G>A

Select item 14901785219.

rs1490178521 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:13726978 (GRCh38)
X:13745097 (GRCh37)
Canonical SPDI:: NC_000023.11:13726977:T:C
Gene:: TRAPPC2 (Varview), OFD1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.13726978T>C, NC_000023.10:g.13745097T>C, NG_011555.1:g.12646A>G

Select item 148983629010.

rs1489836290 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: X:13735051 (GRCh38)
X:13753170 (GRCh37)
Canonical SPDI:: NC_000023.11:13735050:T:C,NC_000023.11:13735050:T:G
Gene:: TRAPPC2 (Varview), OFD1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.13735051T>C, NC_000023.11:g.13735051T>G, NC_000023.10:g.13753170T>C, NC_000023.10:g.13753170T>G, NG_008872.1:g.5339T>C, NG_008872.1:g.5339T>G, NM_003611.3:c.-21T>C, NM_003611.3:c.-21T>G, NM_003611.2:c.-21T>C, NM_003611.2:c.-21T>G, NM_001330210.2:c.-566T>C, NM_001330210.2:c.-566T>G, NM_001330210.1:c.-566T>C, NM_001330210.1:c.-566T>G, NM_001330209.2:c.-21T>C, NM_001330209.2:c.-21T>G, NM_001330209.1:c.-21T>C, NM_001330209.1:c.-21T>G, NG_011555.1:g.4573A>G, NG_011555.1:g.4573A>C, XM_047442587.1:c.-21T>C, XM_047442587.1:c.-21T>G, XM_047442590.1:c.-21T>C, XM_047442590.1:c.-21T>G, XM_047442592.1:c.-21T>C, XM_047442592.1:c.-21T>G, XM_047442595.1:c.-21T>C, XM_047442595.1:c.-21T>G, XM_047442596.1:c.-21T>C, XM_047442596.1:c.-21T>G, XM_047442597.1:c.-21T>C, XM_047442597.1:c.-21T>G

Select item 148974882011.

rs1489748820 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:13718861 (GRCh38)
X:13736980 (GRCh37)
Canonical SPDI:: NC_000023.11:13718860:C:T
Gene:: TRAPPC2 (Varview), OFD1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.13718861C>T, NC_000023.10:g.13736980C>T, NG_011555.1:g.20763G>A

Select item 148969790112.

rs1489697901 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:13720520 (GRCh38)
X:13738639 (GRCh37)
Canonical SPDI:: NC_000023.11:13720519:C:A
Gene:: TRAPPC2 (Varview), OFD1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.13720520C>A, NC_000023.10:g.13738639C>A, NG_011555.1:g.19104G>T

Select item 148944888013.

rs1489448880 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:13716916 (GRCh38)
X:13735035 (GRCh37)
Canonical SPDI:: NC_000023.11:13716915:A:T
Gene:: TRAPPC2 (Varview), OFD1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.13716916A>T, NC_000023.10:g.13735035A>T, NG_011555.1:g.22708T>A

Select item 148923327014.

rs1489233270 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:13712367 (GRCh38)
X:13730486 (GRCh37)
Canonical SPDI:: NC_000023.11:13712366:C:T
Gene:: TRAPPC2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000023.11:g.13712367C>T, NC_000023.10:g.13730486C>T, NG_011555.1:g.27257G>A, NM_014563.6:c.*2040G>A, NM_014563.5:c.*2040G>A, NM_001011658.4:c.*2040G>A, NM_001011658.3:c.*2040G>A, NM_001128835.3:c.*2040G>A, NM_001128835.2:c.*2040G>A, XM_011545566.3:c.*2040G>A, XM_011545566.2:c.*2040G>A, XM_011545566.1:c.*2040G>A, XM_047442352.1:c.*2040G>A, XM_047442351.1:c.*2040G>A

Select item 148921426615.

rs1489214266 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: X:13711898 (GRCh38)
X:13730017 (GRCh37)
Canonical SPDI:: NC_000023.11:13711897:G:
Gene:: TRAPPC2 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.13711898del, NC_000023.10:g.13730017del, NG_011555.1:g.27726del

Select item 148915864716.

rs1489158647 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:13731734 (GRCh38)
X:13749853 (GRCh37)
Canonical SPDI:: NC_000023.11:13731733:G:A
Gene:: TRAPPC2 (Varview), OFD1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.13731734G>A, NC_000023.10:g.13749853G>A, NG_008872.1:g.2022G>A, NG_011555.1:g.7890C>T

Select item 148915754817.

rs1489157548 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:13713314 (GRCh38)
X:13731433 (GRCh37)
Canonical SPDI:: NC_000023.11:13713313:G:A
Gene:: TRAPPC2 (Varview), OFD1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0.000084/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.13713314G>A, NC_000023.10:g.13731433G>A, NG_011555.1:g.26310C>T, NM_014563.6:c.*1093C>T, NM_014563.5:c.*1093C>T, NM_001011658.4:c.*1093C>T, NM_001011658.3:c.*1093C>T, NM_001128835.3:c.*1093C>T, NM_001128835.2:c.*1093C>T, XM_011545566.3:c.*1093C>T, XM_011545566.2:c.*1093C>T, XM_011545566.1:c.*1093C>T, XM_047442352.1:c.*1093C>T, XM_047442351.1:c.*1093C>T

Select item 148911635418.

rs1489116354 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:13722563 (GRCh38)
X:13740682 (GRCh37)
Canonical SPDI:: NC_000023.11:13722562:G:A
Gene:: TRAPPC2 (Varview), OFD1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.13722563G>A, NC_000023.10:g.13740682G>A, NG_011555.1:g.17061C>T

Select item 148909773719.

rs1489097737 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:13733824 (GRCh38)
X:13751943 (GRCh37)
Canonical SPDI:: NC_000023.11:13733823:A:C
Gene:: TRAPPC2 (Varview), OFD1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.13733824A>C, NC_000023.10:g.13751943A>C, NG_008872.1:g.4112A>C, NG_011555.1:g.5800T>G

Select item 148877025020.

rs1488770250 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:13724738 (GRCh38)
X:13742857 (GRCh37)
Canonical SPDI:: NC_000023.11:13724737:T:C
Gene:: TRAPPC2 (Varview), OFD1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.00084/10 (ALFA)
HGVS:: NC_000023.11:g.13724738T>C, NC_000023.10:g.13742857T>C, NG_011555.1:g.14886A>G

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