SNP Links for Gene (Select 768218) - SNP

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Select item 14876380841.

rs1487638084 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:119647802 (GRCh38)
X:118781765 (GRCh37)
Canonical SPDI:: NC_000023.11:119647801:C:T
Gene:: SEPTIN6 (Varview), MIR766 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00004/4 (GnomAD)
T=0.00005/1 (TOMMO)
T=0.00021/1 (1000Genomes)
HGVS:: NC_000023.11:g.119647802C>T, NC_000023.10:g.118781765C>T, NG_012565.1:g.50569G>A, NW_025791817.1:g.98804C>T

Select item 14861724702.

rs1486172470 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:119648111 (GRCh38)
X:118782074 (GRCh37)
Canonical SPDI:: NC_000023.11:119648110:T:G
Gene:: SEPTIN6 (Varview), MIR766 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.119648111T>G, NC_000023.10:g.118782074T>G, NG_012565.1:g.50260A>C, NW_025791817.1:g.99113T>G

Select item 14851902363.

rs1485190236 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TCCTC [Show Flanks]
Chromosome:: X:119647321 (GRCh38)
X:118781285 (GRCh37)
Canonical SPDI:: NC_000023.11:119647321:CTCCTCTCCTCTCCTC:CTCCTCTCCTCTCCTCTCCTC
Gene:: SEPTIN6 (Varview), MIR766 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCCTCTCCTCTCCTCTCCTC=0./0 (ALFA)
CTCCT=0.00008/8 (GnomAD)
HGVS:: NC_000023.11:g.119647323TCCTC[4], NC_000023.10:g.118781286TCCTC[4], NG_012565.1:g.51035AGGAG[4], NW_025791817.1:g.98325TCCTC[4]

Select item 14796630384.

rs1479663038 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:119646764 (GRCh38)
X:118780727 (GRCh37)
Canonical SPDI:: NC_000023.11:119646763:C:T
Gene:: SEPTIN6 (Varview), MIR766 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000087/2 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.119646764C>T, NC_000023.10:g.118780727C>T, NG_012565.1:g.51607G>A, NW_025791817.1:g.97766C>T, NR_030413.1:n.85G>A

Select item 14788234485.

rs1478823448 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:119647227 (GRCh38)
X:118781190 (GRCh37)
Canonical SPDI:: NC_000023.11:119647226:T:C
Gene:: SEPTIN6 (Varview), MIR766 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.119647227T>C, NC_000023.10:g.118781190T>C, NG_012565.1:g.51144A>G, NW_025791817.1:g.98229T>C

Select item 14757586056.

rs1475758605 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTTTTTTTG [Show Flanks]
Chromosome:: X:119647979 (GRCh38)
X:118781943 (GRCh37)
Canonical SPDI:: NC_000023.11:119647979::TTTTTTTTG
Gene:: SEPTIN6 (Varview), MIR766 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by cluster
HGVS:: NC_000023.11:g.119647979_119647980insTTTTTTTTG, NC_000023.10:g.118781942_118781943insTTTTTTTTG, NG_012565.1:g.50391_50392insCAAAAAAAA, NW_025791817.1:g.98981_98982insTTTTTTTTG

Select item 14755631437.

rs1475563143 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:119648140 (GRCh38)
X:118782103 (GRCh37)
Canonical SPDI:: NC_000023.11:119648139:T:C
Gene:: SEPTIN6 (Varview), MIR766 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000057/15 (TOPMED)
C=0.000059/6 (GnomAD)
HGVS:: NC_000023.11:g.119648140T>C, NC_000023.10:g.118782103T>C, NG_012565.1:g.50231A>G, NW_025791817.1:g.99142T>C

Select item 14750157988.

rs1475015798 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:119647357 (GRCh38)
X:118781320 (GRCh37)
Canonical SPDI:: NC_000023.11:119647356:A:C
Gene:: SEPTIN6 (Varview), MIR766 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00776/92 (ALFA)
C=0.00055/7 (TOMMO)
C=0.03365/98 (KOREAN)
A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000023.11:g.119647357A>C, NC_000023.10:g.118781320A>C, NG_012565.1:g.51014T>G, NW_025791817.1:g.98359A>C

Select item 14717240159.

rs1471724015 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:119646927 (GRCh38)
X:118780890 (GRCh37)
Canonical SPDI:: NC_000023.11:119646926:C:A
Gene:: SEPTIN6 (Varview), MIR766 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
HGVS:: NC_000023.11:g.119646927C>A, NC_000023.10:g.118780890C>A, NG_012565.1:g.51444G>T, NW_025791817.1:g.97929C>A

Select item 147096119010.

rs1470961190 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:119648837 (GRCh38)
X:118782800 (GRCh37)
Canonical SPDI:: NC_000023.11:119648836:A:C
Gene:: SEPTIN6 (Varview), MIR766 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.119648837A>C, NC_000023.10:g.118782800A>C, NG_012565.1:g.49534T>G, NW_025791817.1:g.99839A>C

Select item 146989477811.

rs1469894778 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:119647872 (GRCh38)
X:118781835 (GRCh37)
Canonical SPDI:: NC_000023.11:119647871:C:T
Gene:: SEPTIN6 (Varview), MIR766 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
HGVS:: NC_000023.11:g.119647872C>T, NC_000023.10:g.118781835C>T, NG_012565.1:g.50499G>A, NW_025791817.1:g.98874C>T

Select item 146873226812.

rs1468732268 [Homo sapiens]

Variant type:: DEL
Alleles:: TCCT>- [Show Flanks]
Chromosome:: X:119647398 (GRCh38)
X:118781361 (GRCh37)
Canonical SPDI:: NC_000023.11:119647397:TCCT:
Gene:: SEPTIN6 (Varview), MIR766 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.119647398_119647401del, NC_000023.10:g.118781361_118781364del, NG_012565.1:g.50970_50973del, NW_025791817.1:g.98400_98403del

Select item 146865414013.

rs1468654140 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:119648434 (GRCh38)
X:118782397 (GRCh37)
Canonical SPDI:: NC_000023.11:119648433:T:C
Gene:: SEPTIN6 (Varview), MIR766 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000023.11:g.119648434T>C, NC_000023.10:g.118782397T>C, NG_012565.1:g.49937A>G, NW_025791817.1:g.99436T>C

Select item 146865319314.

rs1468653193 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:119646697 (GRCh38)
X:118780660 (GRCh37)
Canonical SPDI:: NC_000023.11:119646696:C:A
Gene:: SEPTIN6 (Varview), MIR766 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant
HGVS:: NC_000023.11:g.119646697C>A, NC_000023.10:g.118780660C>A, NG_012565.1:g.51674G>T, NW_025791817.1:g.97699C>A

Select item 146710327915.

rs1467103279 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:119646770 (GRCh38)
X:118780733 (GRCh37)
Canonical SPDI:: NC_000023.11:119646769:C:G
Gene:: SEPTIN6 (Varview), MIR766 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
HGVS:: NC_000023.11:g.119646770C>G, NC_000023.10:g.118780733C>G, NG_012565.1:g.51601G>C, NW_025791817.1:g.97772C>G, NR_030413.1:n.79G>C

Select item 146676680316.

rs1466766803 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:119647817 (GRCh38)
X:118781780 (GRCh37)
Canonical SPDI:: NC_000023.11:119647816:C:T
Gene:: SEPTIN6 (Varview), MIR766 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
HGVS:: NC_000023.11:g.119647817C>T, NC_000023.10:g.118781780C>T, NG_012565.1:g.50554G>A, NW_025791817.1:g.98819C>T

Select item 146484237717.

rs1464842377 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:119647959 (GRCh38)
X:118781922 (GRCh37)
Canonical SPDI:: NC_000023.11:119647958:T:G
Gene:: SEPTIN6 (Varview), MIR766 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.119647959T>G, NC_000023.10:g.118781922T>G, NG_012565.1:g.50412A>C, NW_025791817.1:g.98961T>G

Select item 146430823718.

rs1464308237 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: X:119648219 (GRCh38)
X:118782183 (GRCh37)
Canonical SPDI:: NC_000023.11:119648219:AA:AAA
Gene:: SEPTIN6 (Varview), MIR766 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.119648221dup, NC_000023.10:g.118782184dup, NG_012565.1:g.50151dup, NW_025791817.1:g.99223dup

Select item 146377722119.

rs1463777221 [Homo sapiens]

Variant type:: DEL
Alleles:: TGAG>- [Show Flanks]
Chromosome:: X:119647985 (GRCh38)
X:118781948 (GRCh37)
Canonical SPDI:: NC_000023.11:119647984:TGAG:
Gene:: SEPTIN6 (Varview), MIR766 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
HGVS:: NC_000023.11:g.119647985_119647988del, NC_000023.10:g.118781948_118781951del, NG_012565.1:g.50383_50386del, NW_025791817.1:g.98987_98990del

Select item 146222770520.

rs1462227705 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:119646691 (GRCh38)
X:118780654 (GRCh37)
Canonical SPDI:: NC_000023.11:119646690:A:G
Gene:: SEPTIN6 (Varview), MIR766 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.119646691A>G, NC_000023.10:g.118780654A>G, NG_012565.1:g.51680T>C, NW_025791817.1:g.97693A>G

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