SNP Links for Gene (Select 9482) - SNP

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Select item 14915824141.

rs1491582414 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 17:9356986 (GRCh38)
17:9260303 (GRCh37)
Canonical SPDI:: NC_000017.11:9356985:TA:
Gene:: STX8 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000054/7 (GnomAD)
HGVS:: NC_000017.11:g.9356986_9356987del, NC_000017.10:g.9260303_9260304del, NG_047110.1:g.223972_223973del

Select item 14915796302.

rs1491579630 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 17:9546591 (GRCh38)
17:9449908 (GRCh37)
Canonical SPDI:: NC_000017.11:9546590:GT:
Gene:: STX8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00017/2 (ALFA)
-=0.00153/90 (GnomAD)
HGVS:: NC_000017.11:g.9546591_9546592del, NC_000017.10:g.9449908_9449909del, NG_047110.1:g.34367_34368del

Select item 14915779203.

rs1491577920 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 17:9344259 (GRCh38)
17:9247577 (GRCh37)
Canonical SPDI:: NC_000017.11:9344259::C
Gene:: STX8 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.00276/1 (GnomAD)
HGVS:: NC_000017.11:g.9344259_9344260insC, NC_000017.10:g.9247576_9247577insC, NG_047110.1:g.236699_236700insG

Select item 14915737884.

rs1491573788 has merged into rs10536811 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGAGAGAGAGAGAG>-,AG,AGAG,AGAGAG,AGAGAGAG,AGAGAGAGAG,AGAGAGAGAGAG,AGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAG [Show Flanks]
Chromosome:: 17:9529260 (GRCh38)
17:9432577 (GRCh37)
Canonical SPDI:: NC_000017.11:9529247:AGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAG,NC_000017.11:9529247:AGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAG,NC_000017.11:9529247:AGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAG,NC_000017.11:9529247:AGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAG,NC_000017.11:9529247:AGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAG,NC_000017.11:9529247:AGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAG,NC_000017.11:9529247:AGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAG,NC_000017.11:9529247:AGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000017.11:9529247:AGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAG
Gene:: STX8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGAGAG=0./0 (ALFA)
HGVS:: NC_000017.11:g.9529248AG[6], NC_000017.11:g.9529248AG[7], NC_000017.11:g.9529248AG[8], NC_000017.11:g.9529248AG[9], NC_000017.11:g.9529248AG[10], NC_000017.11:g.9529248AG[11], NC_000017.11:g.9529248AG[12], NC_000017.11:g.9529248AG[14], NC_000017.11:g.9529248AG[15], NC_000017.10:g.9432565AG[6], NC_000017.10:g.9432565AG[7], NC_000017.10:g.9432565AG[8], NC_000017.10:g.9432565AG[9], NC_000017.10:g.9432565AG[10], NC_000017.10:g.9432565AG[11], NC_000017.10:g.9432565AG[12], NC_000017.10:g.9432565AG[14], NC_000017.10:g.9432565AG[15], NG_047110.1:g.51686CT[6], NG_047110.1:g.51686CT[7], NG_047110.1:g.51686CT[8], NG_047110.1:g.51686CT[9], NG_047110.1:g.51686CT[10], NG_047110.1:g.51686CT[11], NG_047110.1:g.51686CT[12], NG_047110.1:g.51686CT[14], NG_047110.1:g.51686CT[15]

Select item 14915709215.

rs1491570921 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 17:9430005 (GRCh38)
17:9333322 (GRCh37)
Canonical SPDI:: NC_000017.11:9430004:TT:
Gene:: STX8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00032/5 (GnomAD)
-=0.00049/7 (TOMMO)
HGVS:: NC_000017.11:g.9430005_9430006del, NC_000017.10:g.9333322_9333323del, NG_047110.1:g.150953_150954del

Select item 14915589116.

rs1491558911 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 17:9390837 (GRCh38)
17:9294155 (GRCh37)
Canonical SPDI:: NC_000017.11:9390837::G
Gene:: STX8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000017.11:g.9390837_9390838insG, NC_000017.10:g.9294154_9294155insG, NG_047110.1:g.190121_190122insC

Select item 14915543557.

rs1491554355 has merged into rs10549885 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 17:9530323 (GRCh38)
17:9433640 (GRCh37)
Canonical SPDI:: NC_000017.11:9530310:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:9530310:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:9530310:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:9530310:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:9530310:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:9530310:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:9530310:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Gene:: STX8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
AA=0.0905/453 (1000Genomes)
HGVS:: NC_000017.11:g.9530323_9530328del, NC_000017.11:g.9530325_9530328del, NC_000017.11:g.9530326_9530328del, NC_000017.11:g.9530327_9530328del, NC_000017.11:g.9530328del, NC_000017.11:g.9530328dup, NC_000017.11:g.9530327_9530328dup, NC_000017.10:g.9433640_9433645del, NC_000017.10:g.9433642_9433645del, NC_000017.10:g.9433643_9433645del, NC_000017.10:g.9433644_9433645del, NC_000017.10:g.9433645del, NC_000017.10:g.9433645dup, NC_000017.10:g.9433644_9433645dup, NG_047110.1:g.50643_50648del, NG_047110.1:g.50645_50648del, NG_047110.1:g.50646_50648del, NG_047110.1:g.50647_50648del, NG_047110.1:g.50648del, NG_047110.1:g.50648dup, NG_047110.1:g.50647_50648dup

Select item 14915532938.

rs1491553293 has merged into rs386385626 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:9546602 (GRCh38)
17:9449919 (GRCh37)
Canonical SPDI:: NC_000017.11:9546591:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:9546591:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:9546591:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:9546591:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:9546591:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:9546591:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:9546591:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:9546591:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:9546591:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:9546591:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:9546591:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:9546591:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:9546591:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:9546591:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:9546591:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:9546591:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:9546591:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:9546591:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:9546591:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:9546591:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:9546591:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:9546591:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:9546591:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:9546591:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:9546591:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:9546591:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:9546591:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:9546591:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:9546591:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:9546591:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:9546591:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:9546591:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:9546591:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:9546591:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:9546591:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:9546591:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:9546591:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:9546591:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:9546591:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:9546591:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: STX8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000017.11:g.9546602_9546615del, NC_000017.11:g.9546603_9546615del, NC_000017.11:g.9546604_9546615del, NC_000017.11:g.9546605_9546615del, NC_000017.11:g.9546606_9546615del, NC_000017.11:g.9546607_9546615del, NC_000017.11:g.9546608_9546615del, NC_000017.11:g.9546609_9546615del, NC_000017.11:g.9546610_9546615del, NC_000017.11:g.9546611_9546615del, NC_000017.11:g.9546612_9546615del, NC_000017.11:g.9546613_9546615del, NC_000017.11:g.9546614_9546615del, NC_000017.11:g.9546615del, NC_000017.11:g.9546615dup, NC_000017.11:g.9546614_9546615dup, NC_000017.11:g.9546613_9546615dup, NC_000017.11:g.9546612_9546615dup, NC_000017.11:g.9546611_9546615dup, NC_000017.11:g.9546610_9546615dup, NC_000017.11:g.9546609_9546615dup, NC_000017.11:g.9546608_9546615dup, NC_000017.11:g.9546607_9546615dup, NC_000017.11:g.9546606_9546615dup, NC_000017.11:g.9546605_9546615dup, NC_000017.11:g.9546604_9546615dup, NC_000017.11:g.9546603_9546615dup, NC_000017.11:g.9546602_9546615dup, NC_000017.11:g.9546601_9546615dup, NC_000017.11:g.9546600_9546615dup, NC_000017.11:g.9546599_9546615dup, NC_000017.11:g.9546597_9546615dup, NC_000017.11:g.9546595_9546615dup, NC_000017.11:g.9546594_9546615dup, NC_000017.11:g.9546592_9546615dup, NC_000017.11:g.9546615_9546616insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.9546615_9546616insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.9546615_9546616insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.9546615_9546616insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.9546615_9546616insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.9449919_9449932del, NC_000017.10:g.9449920_9449932del, NC_000017.10:g.9449921_9449932del, NC_000017.10:g.9449922_9449932del, NC_000017.10:g.9449923_9449932del, NC_000017.10:g.9449924_9449932del, NC_000017.10:g.9449925_9449932del, NC_000017.10:g.9449926_9449932del, NC_000017.10:g.9449927_9449932del, NC_000017.10:g.9449928_9449932del, NC_000017.10:g.9449929_9449932del, NC_000017.10:g.9449930_9449932del, NC_000017.10:g.9449931_9449932del, NC_000017.10:g.9449932del, NC_000017.10:g.9449932dup, NC_000017.10:g.9449931_9449932dup, NC_000017.10:g.9449930_9449932dup, NC_000017.10:g.9449929_9449932dup, NC_000017.10:g.9449928_9449932dup, NC_000017.10:g.9449927_9449932dup, NC_000017.10:g.9449926_9449932dup, NC_000017.10:g.9449925_9449932dup, NC_000017.10:g.9449924_9449932dup, NC_000017.10:g.9449923_9449932dup, NC_000017.10:g.9449922_9449932dup, NC_000017.10:g.9449921_9449932dup, NC_000017.10:g.9449920_9449932dup, NC_000017.10:g.9449919_9449932dup, NC_000017.10:g.9449918_9449932dup, NC_000017.10:g.9449917_9449932dup, NC_000017.10:g.9449916_9449932dup, NC_000017.10:g.9449914_9449932dup, NC_000017.10:g.9449912_9449932dup, NC_000017.10:g.9449911_9449932dup, NC_000017.10:g.9449909_9449932dup, NC_000017.10:g.9449932_9449933insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.9449932_9449933insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.9449932_9449933insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.9449932_9449933insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.9449932_9449933insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_047110.1:g.34354_34367del, NG_047110.1:g.34355_34367del, NG_047110.1:g.34356_34367del, NG_047110.1:g.34357_34367del, NG_047110.1:g.34358_34367del, NG_047110.1:g.34359_34367del, NG_047110.1:g.34360_34367del, NG_047110.1:g.34361_34367del, NG_047110.1:g.34362_34367del, NG_047110.1:g.34363_34367del, NG_047110.1:g.34364_34367del, NG_047110.1:g.34365_34367del, NG_047110.1:g.34366_34367del, NG_047110.1:g.34367del, NG_047110.1:g.34367dup, NG_047110.1:g.34366_34367dup, NG_047110.1:g.34365_34367dup, NG_047110.1:g.34364_34367dup, NG_047110.1:g.34363_34367dup, NG_047110.1:g.34362_34367dup, NG_047110.1:g.34361_34367dup, NG_047110.1:g.34360_34367dup, NG_047110.1:g.34359_34367dup, NG_047110.1:g.34358_34367dup, NG_047110.1:g.34357_34367dup, NG_047110.1:g.34356_34367dup, NG_047110.1:g.34355_34367dup, NG_047110.1:g.34354_34367dup, NG_047110.1:g.34353_34367dup, NG_047110.1:g.34352_34367dup, NG_047110.1:g.34351_34367dup, NG_047110.1:g.34349_34367dup, NG_047110.1:g.34347_34367dup, NG_047110.1:g.34346_34367dup, NG_047110.1:g.34344_34367dup, NG_047110.1:g.34367_34368insAAAAAAAAAAAAAAAAAAAAAAAAA, NG_047110.1:g.34367_34368insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_047110.1:g.34367_34368insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_047110.1:g.34367_34368insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_047110.1:g.34367_34368insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14915532599.

rs1491553259 has merged into rs34300236 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:9268009 (GRCh38)
17:9171326 (GRCh37)
Canonical SPDI:: NC_000017.11:9267996:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:9267996:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:9267996:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:9267996:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:9267996:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:9267996:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:9267996:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:9267996:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:9267996:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: STX8 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.475/19 (GENOME_DK)
HGVS:: NC_000017.11:g.9268009_9268014del, NC_000017.11:g.9268010_9268014del, NC_000017.11:g.9268012_9268014del, NC_000017.11:g.9268013_9268014del, NC_000017.11:g.9268014del, NC_000017.11:g.9268014dup, NC_000017.11:g.9268013_9268014dup, NC_000017.11:g.9268007_9268014dup, NC_000017.11:g.9267999_9268014dup, NC_000017.10:g.9171326_9171331del, NC_000017.10:g.9171327_9171331del, NC_000017.10:g.9171329_9171331del, NC_000017.10:g.9171330_9171331del, NC_000017.10:g.9171331del, NC_000017.10:g.9171331dup, NC_000017.10:g.9171330_9171331dup, NC_000017.10:g.9171324_9171331dup, NC_000017.10:g.9171316_9171331dup, NG_047110.1:g.312957_312962del, NG_047110.1:g.312958_312962del, NG_047110.1:g.312960_312962del, NG_047110.1:g.312961_312962del, NG_047110.1:g.312962del, NG_047110.1:g.312962dup, NG_047110.1:g.312961_312962dup, NG_047110.1:g.312955_312962dup, NG_047110.1:g.312947_312962dup

Select item 149154906110.

rs1491549061 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 17:9368937 (GRCh38)
17:9272254 (GRCh37)
Canonical SPDI:: NC_000017.11:9368936:TA:
Gene:: STX8 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.9368937_9368938del, NC_000017.10:g.9272254_9272255del, NG_047110.1:g.212021_212022del

Select item 149154620411.

rs1491546204 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 17:9380255 (GRCh38)
17:9283573 (GRCh37)
Canonical SPDI:: NC_000017.11:9380255::G
Gene:: STX8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00009/5 (GnomAD)
HGVS:: NC_000017.11:g.9380255_9380256insG, NC_000017.10:g.9283572_9283573insG, NG_047110.1:g.200703_200704insC

Select item 149154182412.

rs1491541824 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 17:9351199 (GRCh38)
17:9254517 (GRCh37)
Canonical SPDI:: NC_000017.11:9351199:G:GG
Gene:: STX8 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
HGVS:: NC_000017.11:g.9351200dup, NC_000017.10:g.9254517dup, NG_047110.1:g.229759dup

Select item 149154112913.

rs1491541129 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:9530310 (GRCh38)
17:9433627 (GRCh37)
Canonical SPDI:: NC_000017.11:9530309:CA:
Gene:: STX8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00776/92 (ALFA)
-=0.00418/118 (TOMMO)
HGVS:: NC_000017.11:g.9530310_9530311del, NC_000017.10:g.9433627_9433628del, NG_047110.1:g.50648_50649del

Select item 149153796814.

rs1491537968 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 17:9375064 (GRCh38)
17:9278382 (GRCh37)
Canonical SPDI:: NC_000017.11:9375064::C
Gene:: STX8 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.9375064_9375065insC, NC_000017.10:g.9278381_9278382insC, NG_047110.1:g.205894_205895insG

Select item 149153733115.

rs1491537331 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTG,TTTG [Show Flanks]
Chromosome:: 17:9359525 (GRCh38)
17:9262843 (GRCh37)
Canonical SPDI:: NC_000017.11:9359525::TTG,NC_000017.11:9359525::TTTG
Gene:: STX8 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TTG=0.000169/2 (ALFA)
TTTG=0.000008/1 (GnomAD)
HGVS:: NC_000017.11:g.9359525_9359526insTTG, NC_000017.11:g.9359525_9359526insTTTG, NC_000017.10:g.9262842_9262843insTTG, NC_000017.10:g.9262842_9262843insTTTG, NG_047110.1:g.221433_221434insCAA, NG_047110.1:g.221433_221434insCAAA

Select item 149152472816.

rs1491524728 has merged into rs200606281 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:9344270 (GRCh38)
17:9247587 (GRCh37)
Canonical SPDI:: NC_000017.11:9344258:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:9344258:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:9344258:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:9344258:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:9344258:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:9344258:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:9344258:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:9344258:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:9344258:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:9344258:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:9344258:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:9344258:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:9344258:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:9344258:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:9344258:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: STX8 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTT=0./0 (ALFA)
TTTTTTT=0./0 (GENOME_DK)
TTTTTTT=0.0251/15 (NorthernSweden)
TTTTTTT=0.0278/139 (1000Genomes)
HGVS:: NC_000017.11:g.9344270_9344278del, NC_000017.11:g.9344271_9344278del, NC_000017.11:g.9344272_9344278del, NC_000017.11:g.9344273_9344278del, NC_000017.11:g.9344275_9344278del, NC_000017.11:g.9344276_9344278del, NC_000017.11:g.9344277_9344278del, NC_000017.11:g.9344278del, NC_000017.11:g.9344278dup, NC_000017.11:g.9344277_9344278dup, NC_000017.11:g.9344276_9344278dup, NC_000017.11:g.9344275_9344278dup, NC_000017.11:g.9344274_9344278dup, NC_000017.11:g.9344273_9344278dup, NC_000017.11:g.9344270_9344278dup, NC_000017.10:g.9247587_9247595del, NC_000017.10:g.9247588_9247595del, NC_000017.10:g.9247589_9247595del, NC_000017.10:g.9247590_9247595del, NC_000017.10:g.9247592_9247595del, NC_000017.10:g.9247593_9247595del, NC_000017.10:g.9247594_9247595del, NC_000017.10:g.9247595del, NC_000017.10:g.9247595dup, NC_000017.10:g.9247594_9247595dup, NC_000017.10:g.9247593_9247595dup, NC_000017.10:g.9247592_9247595dup, NC_000017.10:g.9247591_9247595dup, NC_000017.10:g.9247590_9247595dup, NC_000017.10:g.9247587_9247595dup, NG_047110.1:g.236692_236700del, NG_047110.1:g.236693_236700del, NG_047110.1:g.236694_236700del, NG_047110.1:g.236695_236700del, NG_047110.1:g.236697_236700del, NG_047110.1:g.236698_236700del, NG_047110.1:g.236699_236700del, NG_047110.1:g.236700del, NG_047110.1:g.236700dup, NG_047110.1:g.236699_236700dup, NG_047110.1:g.236698_236700dup, NG_047110.1:g.236697_236700dup, NG_047110.1:g.236696_236700dup, NG_047110.1:g.236695_236700dup, NG_047110.1:g.236692_236700dup

Select item 149152427417.

rs1491524274 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGAAGAAGGA [Show Flanks]
Chromosome:: 17:9327191 (GRCh38)
17:9230509 (GRCh37)
Canonical SPDI:: NC_000017.11:9327191:AGGAAGAAGGA:AGGAAGAAGGAGGAAGAAGGA
Gene:: STX8 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AGGAAGAAGGAGGAAGAAGGA=0./0 (ALFA)
HGVS:: NC_000017.11:g.9327193_9327202dup, NC_000017.10:g.9230510_9230519dup, NG_047110.1:g.253758_253767dup

Select item 149152388618.

rs1491523886 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 17:9529247 (GRCh38)
17:9432564 (GRCh37)
Canonical SPDI:: NC_000017.11:9529246:TA:
Gene:: STX8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00034/4 (ALFA)
-=0.00266/32 (GnomAD)
HGVS:: NC_000017.11:g.9529247_9529248del, NC_000017.10:g.9432564_9432565del, NG_047110.1:g.51711_51712del

Select item 149151909119.

rs1491519091 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 17:9304915 (GRCh38)
17:9208232 (GRCh37)
Canonical SPDI:: NC_000017.11:9304914:GA:
Gene:: STX8 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.9304915_9304916del, NC_000017.10:g.9208232_9208233del, NG_047110.1:g.276043_276044del

Select item 149151142920.

rs1491511429 has merged into rs1297626169 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA [Show Flanks]
Chromosome:: 17:9438255 (GRCh38)
17:9341572 (GRCh37)
Canonical SPDI:: NC_000017.11:9438240:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:9438240:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:9438240:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:9438240:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:9438240:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:9438240:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:9438240:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:9438240:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
Gene:: STX8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.01434/8 (NorthernSweden)
HGVS:: NC_000017.11:g.9438255_9438259del, NC_000017.11:g.9438257_9438259del, NC_000017.11:g.9438258_9438259del, NC_000017.11:g.9438259del, NC_000017.11:g.9438259dup, NC_000017.11:g.9438258_9438259dup, NC_000017.11:g.9438257_9438259dup, NC_000017.11:g.9438256_9438259dup, NC_000017.10:g.9341572_9341576del, NC_000017.10:g.9341574_9341576del, NC_000017.10:g.9341575_9341576del, NC_000017.10:g.9341576del, NC_000017.10:g.9341576dup, NC_000017.10:g.9341575_9341576dup, NC_000017.10:g.9341574_9341576dup, NC_000017.10:g.9341573_9341576dup, NG_047110.1:g.142714_142718del, NG_047110.1:g.142716_142718del, NG_047110.1:g.142717_142718del, NG_047110.1:g.142718del, NG_047110.1:g.142718dup, NG_047110.1:g.142717_142718dup, NG_047110.1:g.142716_142718dup, NG_047110.1:g.142715_142718dup

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