SNP Links for Gene (Select 23355) - SNP

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Select item 14915435471.

rs1491543547 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 3:184961735 (GRCh38)
3:184679524 (GRCh37)
Canonical SPDI:: NC_000003.12:184961735:A:AA
Gene:: VPS8 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AA=0.000061/1 (ALFA)
A=0.000304/38 (GnomAD)
HGVS:: NC_000003.12:g.184961736dup, NC_000003.11:g.184679524dup

Select item 14915364022.

rs1491536402 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 3:185045783 (GRCh38)
3:184763572 (GRCh37)
Canonical SPDI:: NC_000003.12:185045783::C
Gene:: VPS8 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.185045783_185045784insC, NC_000003.11:g.184763571_184763572insC

Select item 14915346783.

rs1491534678 has merged into rs1192011417 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT [Show Flanks]
Chromosome:: 3:184902133 (GRCh38)
3:184619921 (GRCh37)
Canonical SPDI:: NC_000003.12:184902122:TTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:184902122:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:184902122:TTTTTTTTTTTT:TTTTTTTTTTTTT
Gene:: VPS8 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0.00167/27 (ALFA)
HGVS:: NC_000003.12:g.184902133_184902134del, NC_000003.12:g.184902134del, NC_000003.12:g.184902134dup, NC_000003.11:g.184619921_184619922del, NC_000003.11:g.184619922del, NC_000003.11:g.184619922dup

Select item 14915140384.

rs1491514038 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 3:184977746 (GRCh38)
3:184695534 (GRCh37)
Canonical SPDI:: NC_000003.12:184977744:TGT:T
Gene:: VPS8 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.02298/374 (ALFA)
-=0.00631/106 (TOMMO)
-=0.0076/648 (GnomAD)
HGVS:: NC_000003.12:g.184977746_184977747del, NC_000003.11:g.184695534_184695535del

Select item 14915119345.

rs1491511934 has merged into rs201514658 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 3:184815830 (GRCh38)
3:184533618 (GRCh37)
Canonical SPDI:: NC_000003.12:184815817:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:184815817:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:184815817:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:184815817:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:184815817:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:184815817:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:184815817:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:184815817:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:184815817:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:184815817:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:184815817:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:184815817:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:184815817:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:184815817:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:184815817:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: VPS8 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAA=0./0 (ALFA)
AA=0.25/2 (KOREAN)
HGVS:: NC_000003.12:g.184815830_184815836del, NC_000003.12:g.184815831_184815836del, NC_000003.12:g.184815833_184815836del, NC_000003.12:g.184815834_184815836del, NC_000003.12:g.184815835_184815836del, NC_000003.12:g.184815836del, NC_000003.12:g.184815836dup, NC_000003.12:g.184815835_184815836dup, NC_000003.12:g.184815834_184815836dup, NC_000003.12:g.184815833_184815836dup, NC_000003.12:g.184815832_184815836dup, NC_000003.12:g.184815831_184815836dup, NC_000003.12:g.184815827_184815836dup, NC_000003.12:g.184815836_184815837insAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.184815836_184815837insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.184533618_184533624del, NC_000003.11:g.184533619_184533624del, NC_000003.11:g.184533621_184533624del, NC_000003.11:g.184533622_184533624del, NC_000003.11:g.184533623_184533624del, NC_000003.11:g.184533624del, NC_000003.11:g.184533624dup, NC_000003.11:g.184533623_184533624dup, NC_000003.11:g.184533622_184533624dup, NC_000003.11:g.184533621_184533624dup, NC_000003.11:g.184533620_184533624dup, NC_000003.11:g.184533619_184533624dup, NC_000003.11:g.184533615_184533624dup, NC_000003.11:g.184533624_184533625insAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.184533624_184533625insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XM_024453426.2:c.-1140_-1134del, XM_024453426.2:c.-1139_-1134del, XM_024453426.2:c.-1137_-1134del, XM_024453426.2:c.-1136_-1134del, XM_024453426.2:c.-1135_-1134del, XM_024453426.2:c.-1134del, XM_024453426.2:c.-1134dup, XM_024453426.2:c.-1135_-1134dup, XM_024453426.2:c.-1136_-1134dup, XM_024453426.2:c.-1137_-1134dup, XM_024453426.2:c.-1138_-1134dup, XM_024453426.2:c.-1139_-1134dup, XM_024453426.2:c.-1143_-1134dup, XM_024453426.2:c.-1134_-1133insAAAAAAAAAAAAAAAAAAAAA, XM_024453426.2:c.-1134_-1133insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XM_024453426.1:c.-1140_-1134del, XM_024453426.1:c.-1139_-1134del, XM_024453426.1:c.-1137_-1134del, XM_024453426.1:c.-1136_-1134del, XM_024453426.1:c.-1135_-1134del, XM_024453426.1:c.-1134del, XM_024453426.1:c.-1134dup, XM_024453426.1:c.-1135_-1134dup, XM_024453426.1:c.-1136_-1134dup, XM_024453426.1:c.-1137_-1134dup, XM_024453426.1:c.-1138_-1134dup, XM_024453426.1:c.-1139_-1134dup, XM_024453426.1:c.-1143_-1134dup, XM_024453426.1:c.-1134_-1133insAAAAAAAAAAAAAAAAAAAAA, XM_024453426.1:c.-1134_-1133insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NR_146114.2:n.107_113del, NR_146114.2:n.108_113del, NR_146114.2:n.110_113del, NR_146114.2:n.111_113del, NR_146114.2:n.112_113del, NR_146114.2:n.113del, NR_146114.2:n.113dup, NR_146114.2:n.112_113dup, NR_146114.2:n.111_113dup, NR_146114.2:n.110_113dup, NR_146114.2:n.109_113dup, NR_146114.2:n.108_113dup, NR_146114.2:n.104_113dup, NR_146114.2:n.113_114insAAAAAAAAAAAAAAAAAAAAA, NR_146114.2:n.113_114insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NR_146114.1:n.130_136del, NR_146114.1:n.131_136del, NR_146114.1:n.133_136del, NR_146114.1:n.134_136del, NR_146114.1:n.135_136del, NR_146114.1:n.136del, NR_146114.1:n.136dup, NR_146114.1:n.135_136dup, NR_146114.1:n.134_136dup, NR_146114.1:n.133_136dup, NR_146114.1:n.132_136dup, NR_146114.1:n.131_136dup, NR_146114.1:n.127_136dup, NR_146114.1:n.136_137insAAAAAAAAAAAAAAAAAAAAA, NR_146114.1:n.136_137insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XM_047447821.1:c.-1463_-1457del, XM_047447821.1:c.-1462_-1457del, XM_047447821.1:c.-1460_-1457del, XM_047447821.1:c.-1459_-1457del, XM_047447821.1:c.-1458_-1457del, XM_047447821.1:c.-1457del, XM_047447821.1:c.-1457dup, XM_047447821.1:c.-1458_-1457dup, XM_047447821.1:c.-1459_-1457dup, XM_047447821.1:c.-1460_-1457dup, XM_047447821.1:c.-1461_-1457dup, XM_047447821.1:c.-1462_-1457dup, XM_047447821.1:c.-1466_-1457dup, XM_047447821.1:c.-1457_-1456insAAAAAAAAAAAAAAAAAAAAA, XM_047447821.1:c.-1457_-1456insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XM_047447823.1:c.-1140_-1134del, XM_047447823.1:c.-1139_-1134del, XM_047447823.1:c.-1137_-1134del, XM_047447823.1:c.-1136_-1134del, XM_047447823.1:c.-1135_-1134del, XM_047447823.1:c.-1134del, XM_047447823.1:c.-1134dup, XM_047447823.1:c.-1135_-1134dup, XM_047447823.1:c.-1136_-1134dup, XM_047447823.1:c.-1137_-1134dup, XM_047447823.1:c.-1138_-1134dup, XM_047447823.1:c.-1139_-1134dup, XM_047447823.1:c.-1143_-1134dup, XM_047447823.1:c.-1134_-1133insAAAAAAAAAAAAAAAAAAAAA, XM_047447823.1:c.-1134_-1133insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NR_146115.1:n.453_459del, NR_146115.1:n.454_459del, NR_146115.1:n.456_459del, NR_146115.1:n.457_459del, NR_146115.1:n.458_459del, NR_146115.1:n.459del, NR_146115.1:n.459dup, NR_146115.1:n.458_459dup, NR_146115.1:n.457_459dup, NR_146115.1:n.456_459dup, NR_146115.1:n.455_459dup, NR_146115.1:n.454_459dup, NR_146115.1:n.450_459dup, NR_146115.1:n.459_460insAAAAAAAAAAAAAAAAAAAAA, NR_146115.1:n.459_460insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NR_146116.1:n.330_336del, NR_146116.1:n.331_336del, NR_146116.1:n.333_336del, NR_146116.1:n.334_336del, NR_146116.1:n.335_336del, NR_146116.1:n.336del, NR_146116.1:n.336dup, NR_146116.1:n.335_336dup, NR_146116.1:n.334_336dup, NR_146116.1:n.333_336dup, NR_146116.1:n.332_336dup, NR_146116.1:n.331_336dup, NR_146116.1:n.327_336dup, NR_146116.1:n.336_337insAAAAAAAAAAAAAAAAAAAAA, NR_146116.1:n.336_337insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14914984126.

rs1491498412 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 3:185031063 (GRCh38)
3:184748851 (GRCh37)
Canonical SPDI:: NC_000003.12:185031062:GT:
Gene:: VPS8 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00001/1 (GnomAD)
HGVS:: NC_000003.12:g.185031063_185031064del, NC_000003.11:g.184748851_184748852del

Select item 14914966637.

rs1491496663 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 3:185045765 (GRCh38)
3:184763553 (GRCh37)
Canonical SPDI:: NC_000003.12:185045764:TA:
Gene:: VPS8 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000003.12:g.185045765_185045766del, NC_000003.11:g.184763553_184763554del

Select item 14914602268.

rs1491460226 has merged into rs34621825 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACA>-,CA,CACACA,CACACACA,CACACACACA [Show Flanks]
Chromosome:: 3:184886558 (GRCh38)
3:184604346 (GRCh37)
Canonical SPDI:: NC_000003.12:184886546:ACACACACACACACA:ACACACACACA,NC_000003.12:184886546:ACACACACACACACA:ACACACACACACA,NC_000003.12:184886546:ACACACACACACACA:ACACACACACACACACA,NC_000003.12:184886546:ACACACACACACACA:ACACACACACACACACACA,NC_000003.12:184886546:ACACACACACACACA:ACACACACACACACACACACA
Gene:: VPS8 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACA=0./0 (ALFA)
AC=0.075/3 (GENOME_DK)
AC=0.305/183 (NorthernSweden)
AC=0.33107/1658 (1000Genomes)
HGVS:: NC_000003.12:g.184886548CA[5], NC_000003.12:g.184886548CA[6], NC_000003.12:g.184886548CA[8], NC_000003.12:g.184886548CA[9], NC_000003.12:g.184886548CA[10], NC_000003.11:g.184604336CA[5], NC_000003.11:g.184604336CA[6], NC_000003.11:g.184604336CA[8], NC_000003.11:g.184604336CA[9], NC_000003.11:g.184604336CA[10]

Select item 14914321609.

rs1491432160 has merged into rs557804099 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 3:184876001 (GRCh38)
3:184593789 (GRCh37)
Canonical SPDI:: NC_000003.12:184875989:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:184875989:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:184875989:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:184875989:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:184875989:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:184875989:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: VPS8 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000003.12:g.184876001_184876003del, NC_000003.12:g.184876002_184876003del, NC_000003.12:g.184876003del, NC_000003.12:g.184876003dup, NC_000003.12:g.184876002_184876003dup, NC_000003.12:g.184875999_184876003dup, NC_000003.11:g.184593789_184593791del, NC_000003.11:g.184593790_184593791del, NC_000003.11:g.184593791del, NC_000003.11:g.184593791dup, NC_000003.11:g.184593790_184593791dup, NC_000003.11:g.184593787_184593791dup

Select item 149140742310.

rs1491407423 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 3:184961735 (GRCh38)
3:184679523 (GRCh37)
Canonical SPDI:: NC_000003.12:184961734:TA:
Gene:: VPS8 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00049/8 (ALFA)
HGVS:: NC_000003.12:g.184961735_184961736del, NC_000003.11:g.184679523_184679524del

Select item 149138962611.

rs1491389626 has merged into rs55724735 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 3:184977740 (GRCh38)
3:184695528 (GRCh37)
Canonical SPDI:: NC_000003.12:184977728:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:184977728:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:184977728:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:184977728:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:184977728:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:184977728:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:184977728:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:184977728:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:184977728:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:184977728:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:184977728:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTT,NC_000003.12:184977728:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:184977728:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:184977728:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: VPS8 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000003.12:g.184977740_184977745del, NC_000003.12:g.184977741_184977745del, NC_000003.12:g.184977742_184977745del, NC_000003.12:g.184977743_184977745del, NC_000003.12:g.184977744_184977745del, NC_000003.12:g.184977745del, NC_000003.12:g.184977745dup, NC_000003.12:g.184977744_184977745dup, NC_000003.12:g.184977743_184977745dup, NC_000003.12:g.184977741_184977745dup, NC_000003.12:g.184977729_184977745T[23]ATTTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.184977739_184977745dup, NC_000003.12:g.184977737_184977745dup, NC_000003.12:g.184977745_184977746insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.184695528_184695533del, NC_000003.11:g.184695529_184695533del, NC_000003.11:g.184695530_184695533del, NC_000003.11:g.184695531_184695533del, NC_000003.11:g.184695532_184695533del, NC_000003.11:g.184695533del, NC_000003.11:g.184695533dup, NC_000003.11:g.184695532_184695533dup, NC_000003.11:g.184695531_184695533dup, NC_000003.11:g.184695529_184695533dup, NC_000003.11:g.184695517_184695533T[23]ATTTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.184695527_184695533dup, NC_000003.11:g.184695525_184695533dup, NC_000003.11:g.184695533_184695534insTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149138798912.

rs1491387989 has merged into rs71632043 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 3:185045776 (GRCh38)
3:184763564 (GRCh37)
Canonical SPDI:: NC_000003.12:185045765:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:185045765:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:185045765:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:185045765:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:185045765:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:185045765:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:185045765:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:185045765:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:185045765:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:185045765:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:185045765:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:185045765:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:185045765:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:185045765:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: VPS8 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
AA=0.4377/2192 (1000Genomes)
HGVS:: NC_000003.12:g.185045776_185045785del, NC_000003.12:g.185045777_185045785del, NC_000003.12:g.185045779_185045785del, NC_000003.12:g.185045780_185045785del, NC_000003.12:g.185045781_185045785del, NC_000003.12:g.185045782_185045785del, NC_000003.12:g.185045783_185045785del, NC_000003.12:g.185045784_185045785del, NC_000003.12:g.185045785del, NC_000003.12:g.185045785dup, NC_000003.12:g.185045784_185045785dup, NC_000003.12:g.185045783_185045785dup, NC_000003.12:g.185045782_185045785dup, NC_000003.12:g.185045781_185045785dup, NC_000003.11:g.184763564_184763573del, NC_000003.11:g.184763565_184763573del, NC_000003.11:g.184763567_184763573del, NC_000003.11:g.184763568_184763573del, NC_000003.11:g.184763569_184763573del, NC_000003.11:g.184763570_184763573del, NC_000003.11:g.184763571_184763573del, NC_000003.11:g.184763572_184763573del, NC_000003.11:g.184763573del, NC_000003.11:g.184763573dup, NC_000003.11:g.184763572_184763573dup, NC_000003.11:g.184763571_184763573dup, NC_000003.11:g.184763570_184763573dup, NC_000003.11:g.184763569_184763573dup

Select item 149136457513.

rs1491364575 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 3:184830454 (GRCh38)
3:184548242 (GRCh37)
Canonical SPDI:: NC_000003.12:184830453:TC:
Gene:: VPS8 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000008/1 (GnomAD)
HGVS:: NC_000003.12:g.184830454_184830455del, NC_000003.11:g.184548242_184548243del

Select item 149133913014.

rs1491339130 has merged into rs71272847 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATA>-,TA,TATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATA [Show Flanks]
Chromosome:: 3:184871216 (GRCh38)
3:184589004 (GRCh37)
Canonical SPDI:: NC_000003.12:184871204:ATATATATATATATATA:ATATATATATA,NC_000003.12:184871204:ATATATATATATATATA:ATATATATATATA,NC_000003.12:184871204:ATATATATATATATATA:ATATATATATATATA,NC_000003.12:184871204:ATATATATATATATATA:ATATATATATATATATATA,NC_000003.12:184871204:ATATATATATATATATA:ATATATATATATATATATATA,NC_000003.12:184871204:ATATATATATATATATA:ATATATATATATATATATATATA,NC_000003.12:184871204:ATATATATATATATATA:ATATATATATATATATATATATATA
Gene:: VPS8 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
AT=0.075/3 (GENOME_DK)
AT=0.259025/1148 (Estonian)
AT=0.326478/1635 (1000Genomes)
HGVS:: NC_000003.12:g.184871206TA[5], NC_000003.12:g.184871206TA[6], NC_000003.12:g.184871206TA[7], NC_000003.12:g.184871206TA[9], NC_000003.12:g.184871206TA[10], NC_000003.12:g.184871206TA[11], NC_000003.12:g.184871206TA[12], NC_000003.11:g.184588994TA[5], NC_000003.11:g.184588994TA[6], NC_000003.11:g.184588994TA[7], NC_000003.11:g.184588994TA[9], NC_000003.11:g.184588994TA[10], NC_000003.11:g.184588994TA[11], NC_000003.11:g.184588994TA[12]

Select item 149133222715.

rs1491332227 has merged into rs869093296 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTTT [Show Flanks]
Chromosome:: 3:184969447 (GRCh38)
3:184687235 (GRCh37)
Canonical SPDI:: NC_000003.12:184969428:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:184969428:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:184969428:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:184969428:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:184969428:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:184969428:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: VPS8 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000003.12:g.184969447_184969449del, NC_000003.12:g.184969448_184969449del, NC_000003.12:g.184969449del, NC_000003.12:g.184969449dup, NC_000003.12:g.184969448_184969449dup, NC_000003.12:g.184969446_184969449dup, NC_000003.11:g.184687235_184687237del, NC_000003.11:g.184687236_184687237del, NC_000003.11:g.184687237del, NC_000003.11:g.184687237dup, NC_000003.11:g.184687236_184687237dup, NC_000003.11:g.184687234_184687237dup

Select item 149132238316.

rs1491322383 [Homo sapiens]

Variant type:: INS
Alleles:: ->TCTC [Show Flanks]
Chromosome:: 3:185003139 (GRCh38)
3:184720928 (GRCh37)
Canonical SPDI:: NC_000003.12:185003139::TCTC
Gene:: VPS8 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TCTC=0.000169/2 (ALFA)
TCTC=0.000035/4 (GnomAD)
HGVS:: NC_000003.12:g.185003139_185003140insTCTC, NC_000003.11:g.184720927_184720928insTCTC

Select item 149128380517.

rs1491283805 has merged into rs560516542 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACAC>-,AC,ACACAC [Show Flanks]
Chromosome:: 3:184886479 (GRCh38)
3:184604267 (GRCh37)
Canonical SPDI:: NC_000003.12:184886470:ACACACACACAC:ACACACAC,NC_000003.12:184886470:ACACACACACAC:ACACACACAC,NC_000003.12:184886470:ACACACACACAC:ACACACACACACAC
Gene:: VPS8 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACAC=0./0 (ALFA)
AC=0.00419/21 (1000Genomes)
AC=0.00761/128 (TOMMO)
AC=0.00819/15 (Korea1K)
AC=0.13242/491 (TWINSUK)
AC=0.15179/585 (ALSPAC)
HGVS:: NC_000003.12:g.184886471AC[4], NC_000003.12:g.184886471AC[5], NC_000003.12:g.184886471AC[7], NC_000003.11:g.184604259AC[4], NC_000003.11:g.184604259AC[5], NC_000003.11:g.184604259AC[7]

Select item 149127333718.

rs1491273337 has merged into rs10657242 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTGTGTG>-,TG,TGTG,TGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG [Show Flanks]
Chromosome:: 3:184851476 (GRCh38)
3:184569264 (GRCh37)
Canonical SPDI:: NC_000003.12:184851465:TGTGTGTGTGTGTGTGTG:TGTGTGTGTG,NC_000003.12:184851465:TGTGTGTGTGTGTGTGTG:TGTGTGTGTGTG,NC_000003.12:184851465:TGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTG,NC_000003.12:184851465:TGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTG,NC_000003.12:184851465:TGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTG,NC_000003.12:184851465:TGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:184851465:TGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:184851465:TGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTG
Gene:: VPS8 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTG=0./0 (ALFA)
TGTG=0.218694/57886 (TOPMED)
-=0.316038/67 (Vietnamese)
TGTG=0.331669/1661 (1000Genomes)
HGVS:: NC_000003.12:g.184851466TG[5], NC_000003.12:g.184851466TG[6], NC_000003.12:g.184851466TG[7], NC_000003.12:g.184851466TG[8], NC_000003.12:g.184851466TG[10], NC_000003.12:g.184851466TG[11], NC_000003.12:g.184851466TG[12], NC_000003.12:g.184851466TG[13], NC_000003.11:g.184569254TG[5], NC_000003.11:g.184569254TG[6], NC_000003.11:g.184569254TG[7], NC_000003.11:g.184569254TG[8], NC_000003.11:g.184569254TG[10], NC_000003.11:g.184569254TG[11], NC_000003.11:g.184569254TG[12], NC_000003.11:g.184569254TG[13]

Select item 149124903519.

rs1491249035 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CATA [Show Flanks]
Chromosome:: 3:184940271 (GRCh38)
3:184658060 (GRCh37)
Canonical SPDI:: NC_000003.12:184940271:ATA:ATACATA
Gene:: VPS8 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
HGVS:: NC_000003.12:g.184940274_184940275insCATA, NC_000003.11:g.184658062_184658063insCATA

Select item 149123454720.

rs1491234547 has merged into rs5855051 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTTT [Show Flanks]
Chromosome:: 3:184990936 (GRCh38)
3:184708724 (GRCh37)
Canonical SPDI:: NC_000003.12:184990925:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:184990925:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:184990925:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:184990925:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:184990925:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:184990925:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
Gene:: VPS8 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
TT=0.3206/762 (1000Genomes)
-=0.4229/1630 (ALSPAC)
HGVS:: NC_000003.12:g.184990936_184990938del, NC_000003.12:g.184990937_184990938del, NC_000003.12:g.184990938del, NC_000003.12:g.184990938dup, NC_000003.12:g.184990937_184990938dup, NC_000003.12:g.184990935_184990938dup, NC_000003.11:g.184708724_184708726del, NC_000003.11:g.184708725_184708726del, NC_000003.11:g.184708726del, NC_000003.11:g.184708726dup, NC_000003.11:g.184708725_184708726dup, NC_000003.11:g.184708723_184708726dup

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