SNP Links for Gene (Select 55770) - SNP

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Select item 14915864661.

rs1491586466 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT,ATATAT [Show Flanks]
Chromosome:: 6:501109 (GRCh38)
6:501110 (GRCh37)
Canonical SPDI:: NC_000006.12:501109:TATATATAT:TATATATATAT,NC_000006.12:501109:TATATATAT:TATATATATATATAT
Gene:: EXOC2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TATATATATAT=0./0 (ALFA)
TATATA=0.00001/1 (GnomAD)
HGVS:: NC_000006.12:g.501111AT[5], NC_000006.12:g.501111AT[7], NC_000006.11:g.501111AT[5], NC_000006.11:g.501111AT[7], NG_047166.1:g.197025TA[5], NG_047166.1:g.197025TA[7]

Select item 14915716782.

rs1491571678 has merged into rs11458521 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,C,CCC,CCCC,CCCCC [Show Flanks]
Chromosome:: 6:529124 (GRCh38)
6:529124 (GRCh37)
Canonical SPDI:: NC_000006.12:529116:CCCCCCCCC:CCCCCCC,NC_000006.12:529116:CCCCCCCCC:CCCCCCCC,NC_000006.12:529116:CCCCCCCCC:CCCCCCCCCC,NC_000006.12:529116:CCCCCCCCC:CCCCCCCCCCC,NC_000006.12:529116:CCCCCCCCC:CCCCCCCCCCCC
Gene:: EXOC2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCC=0./0 (ALFA)
HGVS:: NC_000006.12:g.529124_529125del, NC_000006.12:g.529125del, NC_000006.12:g.529125dup, NC_000006.12:g.529124_529125dup, NC_000006.12:g.529123_529125dup, NC_000006.11:g.529124_529125del, NC_000006.11:g.529125del, NC_000006.11:g.529125dup, NC_000006.11:g.529124_529125dup, NC_000006.11:g.529123_529125dup, NG_047166.1:g.169024_169025del, NG_047166.1:g.169025del, NG_047166.1:g.169025dup, NG_047166.1:g.169024_169025dup, NG_047166.1:g.169023_169025dup

Select item 14915580883.

rs1491558088 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:627243 (GRCh38)
6:627243 (GRCh37)
Canonical SPDI:: NC_000006.12:627242:CA:
Gene:: EXOC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000006.12:g.627243_627244del, NC_000006.11:g.627243_627244del, NG_047166.1:g.70898_70899del

Select item 14915434574.

rs1491543457 has merged into rs1168182979 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,GGGG [Show Flanks]
Chromosome:: 6:615176 (GRCh38)
6:615176 (GRCh37)
Canonical SPDI:: NC_000006.12:615174:GGG:G,NC_000006.12:615174:GGG:GGGGG
Gene:: EXOC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGG=0./0 (ALFA)
HGVS:: NC_000006.12:g.615176_615177del, NC_000006.12:g.615176_615177dup, NC_000006.11:g.615176_615177del, NC_000006.11:g.615176_615177dup, NG_047166.1:g.82966_82967del, NG_047166.1:g.82966_82967dup

Select item 14915419905.

rs1491541990 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,C [Show Flanks]
Chromosome:: 6:501128 (GRCh38)
6:501129 (GRCh37)
Canonical SPDI:: NC_000006.12:501128::A,NC_000006.12:501128::C
Gene:: EXOC2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000006.12:g.501128_501129insA, NC_000006.12:g.501128_501129insC, NC_000006.11:g.501128_501129insA, NC_000006.11:g.501128_501129insC, NG_047166.1:g.197013_197014insT, NG_047166.1:g.197013_197014insG

Select item 14915248116.

rs1491524811 has merged into rs70982901 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA [Show Flanks]
Chromosome:: 6:507308 (GRCh38)
6:507308 (GRCh37)
Canonical SPDI:: NC_000006.12:507294:ACACACACACACACACACACACACA:ACACACACACACA,NC_000006.12:507294:ACACACACACACACACACACACACA:ACACACACACACACA,NC_000006.12:507294:ACACACACACACACACACACACACA:ACACACACACACACACA,NC_000006.12:507294:ACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000006.12:507294:ACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000006.12:507294:ACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000006.12:507294:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000006.12:507294:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000006.12:507294:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA
Gene:: EXOC2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACA=0./0 (ALFA)
-=0.15/6 (GENOME_DK)
HGVS:: NC_000006.12:g.507296CA[6], NC_000006.12:g.507296CA[7], NC_000006.12:g.507296CA[8], NC_000006.12:g.507296CA[9], NC_000006.12:g.507296CA[10], NC_000006.12:g.507296CA[11], NC_000006.12:g.507296CA[13], NC_000006.12:g.507296CA[14], NC_000006.12:g.507296CA[15], NC_000006.11:g.507296CA[6], NC_000006.11:g.507296CA[7], NC_000006.11:g.507296CA[8], NC_000006.11:g.507296CA[9], NC_000006.11:g.507296CA[10], NC_000006.11:g.507296CA[11], NC_000006.11:g.507296CA[13], NC_000006.11:g.507296CA[14], NC_000006.11:g.507296CA[15], NG_047166.1:g.190824GT[6], NG_047166.1:g.190824GT[7], NG_047166.1:g.190824GT[8], NG_047166.1:g.190824GT[9], NG_047166.1:g.190824GT[10], NG_047166.1:g.190824GT[11], NG_047166.1:g.190824GT[13], NG_047166.1:g.190824GT[14], NG_047166.1:g.190824GT[15]

Select item 14915217587.

rs1491521758 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 6:615175 (GRCh38)
6:615176 (GRCh37)
Canonical SPDI:: NC_000006.12:615175::T
Gene:: EXOC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: T=0.00003/3 (GnomAD)
T=0.00018/5 (TOMMO)
HGVS:: NC_000006.12:g.615175_615176insT, NC_000006.11:g.615175_615176insT, NG_047166.1:g.82966_82967insA

Select item 14915184268.

rs1491518426 has merged into rs762736216 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTT>-,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTATTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 6:687180 (GRCh38)
6:687180 (GRCh37)
Canonical SPDI:: NC_000006.12:687171:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000006.12:687171:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:687171:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:687171:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:687171:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:687171:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:687171:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:687171:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:687171:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:687171:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:687171:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:687171:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:687171:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:687171:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:687171:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:687171:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:687171:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:687171:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:687171:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:687171:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:687171:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:687171:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:687171:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:687171:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:687171:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:687171:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:687171:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:687171:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:687171:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:687171:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:687171:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:687171:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:687171:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:687171:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:687171:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:687171:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:687171:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:687171:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:687171:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:687171:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: EXOC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
HGVS:: NC_000006.12:g.687180_687194del, NC_000006.12:g.687182_687194del, NC_000006.12:g.687184_687194del, NC_000006.12:g.687185_687194del, NC_000006.12:g.687186_687194del, NC_000006.12:g.687187_687194del, NC_000006.12:g.687188_687194del, NC_000006.12:g.687189_687194del, NC_000006.12:g.687190_687194del, NC_000006.12:g.687191_687194del, NC_000006.12:g.687192_687194del, NC_000006.12:g.687193_687194del, NC_000006.12:g.687194del, NC_000006.12:g.687194dup, NC_000006.12:g.687193_687194dup, NC_000006.12:g.687192_687194dup, NC_000006.12:g.687191_687194dup, NC_000006.12:g.687190_687194dup, NC_000006.12:g.687189_687194dup, NC_000006.12:g.687188_687194dup, NC_000006.12:g.687187_687194dup, NC_000006.12:g.687172_687194T[31]ATTTTT[2]T[26], NC_000006.12:g.687186_687194dup, NC_000006.12:g.687185_687194dup, NC_000006.12:g.687172_687194T[33]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000006.12:g.687184_687194dup, NC_000006.12:g.687183_687194dup, NC_000006.12:g.687182_687194dup, NC_000006.12:g.687181_687194dup, NC_000006.12:g.687180_687194dup, NC_000006.12:g.687179_687194dup, NC_000006.12:g.687178_687194dup, NC_000006.12:g.687177_687194dup, NC_000006.12:g.687176_687194dup, NC_000006.12:g.687175_687194dup, NC_000006.12:g.687194_687195insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.687194_687195insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.687194_687195insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.687194_687195insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.687194_687195insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.687180_687194del, NC_000006.11:g.687182_687194del, NC_000006.11:g.687184_687194del, NC_000006.11:g.687185_687194del, NC_000006.11:g.687186_687194del, NC_000006.11:g.687187_687194del, NC_000006.11:g.687188_687194del, NC_000006.11:g.687189_687194del, NC_000006.11:g.687190_687194del, NC_000006.11:g.687191_687194del, NC_000006.11:g.687192_687194del, NC_000006.11:g.687193_687194del, NC_000006.11:g.687194del, NC_000006.11:g.687194dup, NC_000006.11:g.687193_687194dup, NC_000006.11:g.687192_687194dup, NC_000006.11:g.687191_687194dup, NC_000006.11:g.687190_687194dup, NC_000006.11:g.687189_687194dup, NC_000006.11:g.687188_687194dup, NC_000006.11:g.687187_687194dup, NC_000006.11:g.687172_687194T[31]ATTTTT[2]T[26], NC_000006.11:g.687186_687194dup, NC_000006.11:g.687185_687194dup, NC_000006.11:g.687172_687194T[33]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000006.11:g.687184_687194dup, NC_000006.11:g.687183_687194dup, NC_000006.11:g.687182_687194dup, NC_000006.11:g.687181_687194dup, NC_000006.11:g.687180_687194dup, NC_000006.11:g.687179_687194dup, NC_000006.11:g.687178_687194dup, NC_000006.11:g.687177_687194dup, NC_000006.11:g.687176_687194dup, NC_000006.11:g.687175_687194dup, NC_000006.11:g.687194_687195insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.687194_687195insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.687194_687195insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.687194_687195insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.687194_687195insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_047166.1:g.10956_10970del, NG_047166.1:g.10958_10970del, NG_047166.1:g.10960_10970del, NG_047166.1:g.10961_10970del, NG_047166.1:g.10962_10970del, NG_047166.1:g.10963_10970del, NG_047166.1:g.10964_10970del, NG_047166.1:g.10965_10970del, NG_047166.1:g.10966_10970del, NG_047166.1:g.10967_10970del, NG_047166.1:g.10968_10970del, NG_047166.1:g.10969_10970del, NG_047166.1:g.10970del, NG_047166.1:g.10970dup, NG_047166.1:g.10969_10970dup, NG_047166.1:g.10968_10970dup, NG_047166.1:g.10967_10970dup, NG_047166.1:g.10966_10970dup, NG_047166.1:g.10965_10970dup, NG_047166.1:g.10964_10970dup, NG_047166.1:g.10963_10970dup, NG_047166.1:g.10948_10970A[31]TAAAAA[2]A[26], NG_047166.1:g.10962_10970dup, NG_047166.1:g.10961_10970dup, NG_047166.1:g.10948_10970A[31]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_047166.1:g.10960_10970dup, NG_047166.1:g.10959_10970dup, NG_047166.1:g.10958_10970dup, NG_047166.1:g.10957_10970dup, NG_047166.1:g.10956_10970dup, NG_047166.1:g.10955_10970dup, NG_047166.1:g.10954_10970dup, NG_047166.1:g.10953_10970dup, NG_047166.1:g.10952_10970dup, NG_047166.1:g.10951_10970dup, NG_047166.1:g.10970_10971insAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_047166.1:g.10970_10971insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_047166.1:g.10970_10971insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_047166.1:g.10970_10971insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_047166.1:g.10970_10971insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14915177849.

rs1491517784 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTTTT [Show Flanks]
Chromosome:: 6:687172 (GRCh38)
6:687173 (GRCh37)
Canonical SPDI:: NC_000006.12:687172:TTTT:TTTTGTTTT
Gene:: EXOC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTTTGTTTT=0./0 (ALFA)
TTTTG=0.00016/2 (GnomAD)
HGVS:: NC_000006.12:g.687173_687176T[4]GTTTT[1], NC_000006.11:g.687173_687176T[4]GTTTT[1], NG_047166.1:g.10966_10969A[4]CAAAA[1]

Select item 149149918210.

rs1491499182 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 6:553389 (GRCh38)
6:553389 (GRCh37)
Canonical SPDI:: NC_000006.12:553388:AA:
Gene:: EXOC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00004/1 (TOMMO)
-=0.00007/4 (GnomAD)
HGVS:: NC_000006.12:g.553389_553390del, NC_000006.11:g.553389_553390del, NG_047166.1:g.144752_144753del

Select item 149149871911.

rs1491498719 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 6:526432 (GRCh38)
6:526432 (GRCh37)
Canonical SPDI:: NC_000006.12:526431:AT:
Gene:: EXOC2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000253/3 (ALFA)
-=0.000118/12 (GnomAD)
-=0.000623/17 (TOMMO)
HGVS:: NC_000006.12:g.526432_526433del, NC_000006.11:g.526432_526433del, NG_047166.1:g.171709_171710del

Select item 149149019312.

rs1491490193 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:489853 (GRCh38)
6:489853 (GRCh37)
Canonical SPDI:: NC_000006.12:489852:CA:
Gene:: EXOC2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by cluster
HGVS:: NC_000006.12:g.489853_489854del, NC_000006.11:g.489853_489854del, NG_047166.1:g.208288_208289del

Select item 149148253613.

rs1491482536 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->GTTTTTTTTTTTTTTTTTTTT
Chromosome:: no mapping
Canonical SPDI:

Select item 149146340314.

rs1491463403 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 6:501640 (GRCh38)
6:501640 (GRCh37)
Canonical SPDI:: NC_000006.12:501639:GA:
Gene:: EXOC2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000006.12:g.501640_501641del, NC_000006.11:g.501640_501641del, NG_047166.1:g.196501_196502del

Select item 149146206915.

rs1491462069 has merged into rs70985804 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,T,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 6:526444 (GRCh38)
6:526444 (GRCh37)
Canonical SPDI:: NC_000006.12:526432:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:526432:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:526432:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:526432:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:526432:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:526432:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:526432:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:526432:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:526432:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:526432:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:526432:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:526432:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:526432:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:526432:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:526432:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:526432:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:526432:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:526432:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:526432:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:526432:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:526432:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:526432:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:526432:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:526432:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:526432:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:526432:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:526432:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:526432:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:526432:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:526432:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: EXOC2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000006.12:g.526444_526457del, NC_000006.12:g.526445_526457del, NC_000006.12:g.526447_526457del, NC_000006.12:g.526449_526457del, NC_000006.12:g.526450_526457del, NC_000006.12:g.526451_526457del, NC_000006.12:g.526452_526457del, NC_000006.12:g.526453_526457del, NC_000006.12:g.526454_526457del, NC_000006.12:g.526455_526457del, NC_000006.12:g.526456_526457del, NC_000006.12:g.526457del, NC_000006.12:g.526457dup, NC_000006.12:g.526456_526457dup, NC_000006.12:g.526455_526457dup, NC_000006.12:g.526454_526457dup, NC_000006.12:g.526453_526457dup, NC_000006.12:g.526452_526457dup, NC_000006.12:g.526451_526457dup, NC_000006.12:g.526450_526457dup, NC_000006.12:g.526449_526457dup, NC_000006.12:g.526447_526457dup, NC_000006.12:g.526446_526457dup, NC_000006.12:g.526445_526457dup, NC_000006.12:g.526441_526457dup, NC_000006.12:g.526439_526457dup, NC_000006.12:g.526433_526457dup, NC_000006.12:g.526457_526458insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.526457_526458insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.526457_526458insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.526444_526457del, NC_000006.11:g.526445_526457del, NC_000006.11:g.526447_526457del, NC_000006.11:g.526449_526457del, NC_000006.11:g.526450_526457del, NC_000006.11:g.526451_526457del, NC_000006.11:g.526452_526457del, NC_000006.11:g.526453_526457del, NC_000006.11:g.526454_526457del, NC_000006.11:g.526455_526457del, NC_000006.11:g.526456_526457del, NC_000006.11:g.526457del, NC_000006.11:g.526457dup, NC_000006.11:g.526456_526457dup, NC_000006.11:g.526455_526457dup, NC_000006.11:g.526454_526457dup, NC_000006.11:g.526453_526457dup, NC_000006.11:g.526452_526457dup, NC_000006.11:g.526451_526457dup, NC_000006.11:g.526450_526457dup, NC_000006.11:g.526449_526457dup, NC_000006.11:g.526447_526457dup, NC_000006.11:g.526446_526457dup, NC_000006.11:g.526445_526457dup, NC_000006.11:g.526441_526457dup, NC_000006.11:g.526439_526457dup, NC_000006.11:g.526433_526457dup, NC_000006.11:g.526457_526458insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.526457_526458insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.526457_526458insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_047166.1:g.171696_171709del, NG_047166.1:g.171697_171709del, NG_047166.1:g.171699_171709del, NG_047166.1:g.171701_171709del, NG_047166.1:g.171702_171709del, NG_047166.1:g.171703_171709del, NG_047166.1:g.171704_171709del, NG_047166.1:g.171705_171709del, NG_047166.1:g.171706_171709del, NG_047166.1:g.171707_171709del, NG_047166.1:g.171708_171709del, NG_047166.1:g.171709del, NG_047166.1:g.171709dup, NG_047166.1:g.171708_171709dup, NG_047166.1:g.171707_171709dup, NG_047166.1:g.171706_171709dup, NG_047166.1:g.171705_171709dup, NG_047166.1:g.171704_171709dup, NG_047166.1:g.171703_171709dup, NG_047166.1:g.171702_171709dup, NG_047166.1:g.171701_171709dup, NG_047166.1:g.171699_171709dup, NG_047166.1:g.171698_171709dup, NG_047166.1:g.171697_171709dup, NG_047166.1:g.171693_171709dup, NG_047166.1:g.171691_171709dup, NG_047166.1:g.171685_171709dup, NG_047166.1:g.171709_171710insAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_047166.1:g.171709_171710insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_047166.1:g.171709_171710insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149144689016.

rs1491446890 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 6:501128 (GRCh38)
6:501128 (GRCh37)
Canonical SPDI:: NC_000006.12:501127:TT:
Gene:: EXOC2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.0001/6 (GnomAD)
HGVS:: NC_000006.12:g.501128_501129del, NC_000006.11:g.501128_501129del, NG_047166.1:g.197013_197014del

Select item 149143106217.

rs1491431062 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 6:615738 (GRCh38)
6:615739 (GRCh37)
Canonical SPDI:: NC_000006.12:615738::G
Gene:: EXOC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.615738_615739insG, NC_000006.11:g.615738_615739insG, NG_047166.1:g.82403_82404insC

Select item 149139619618.

rs1491396196 has merged into rs11423850 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT [Show Flanks]
Chromosome:: 6:570147 (GRCh38)
6:570147 (GRCh37)
Canonical SPDI:: NC_000006.12:570136:TTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:570136:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:570136:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:570136:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:570136:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:570136:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:570136:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:570136:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:570136:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:570136:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
Gene:: EXOC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.0503/194 (ALSPAC)
-=0.0531/197 (TWINSUK)
-=0.2167/1085 (1000Genomes)
HGVS:: NC_000006.12:g.570147_570151del, NC_000006.12:g.570149_570151del, NC_000006.12:g.570150_570151del, NC_000006.12:g.570151del, NC_000006.12:g.570151dup, NC_000006.12:g.570150_570151dup, NC_000006.12:g.570149_570151dup, NC_000006.12:g.570148_570151dup, NC_000006.12:g.570147_570151dup, NC_000006.12:g.570145_570151dup, NC_000006.11:g.570147_570151del, NC_000006.11:g.570149_570151del, NC_000006.11:g.570150_570151del, NC_000006.11:g.570151del, NC_000006.11:g.570151dup, NC_000006.11:g.570150_570151dup, NC_000006.11:g.570149_570151dup, NC_000006.11:g.570148_570151dup, NC_000006.11:g.570147_570151dup, NC_000006.11:g.570145_570151dup, NG_047166.1:g.128001_128005del, NG_047166.1:g.128003_128005del, NG_047166.1:g.128004_128005del, NG_047166.1:g.128005del, NG_047166.1:g.128005dup, NG_047166.1:g.128004_128005dup, NG_047166.1:g.128003_128005dup, NG_047166.1:g.128002_128005dup, NG_047166.1:g.128001_128005dup, NG_047166.1:g.127999_128005dup

Select item 149139554619.

rs1491395546 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->CCC
Chromosome:: no mapping
Canonical SPDI:

Select item 149136825820.

rs1491368258 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:545153 (GRCh38)
6:545153 (GRCh37)
Canonical SPDI:: NC_000006.12:545152:CA:
Gene:: EXOC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.01062/126 (ALFA)
-=0.00182/51 (TOMMO)
HGVS:: NC_000006.12:g.545153_545154del, NC_000006.11:g.545153_545154del, NG_047166.1:g.152988_152989del

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