SNP Links for Gene (Select 101927288) - SNP

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Items: 1 to 20 of 4587

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Select item 14915559101.

rs1491555910 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 6:95574787 (GRCh38)
6:96022663 (GRCh37)
Canonical SPDI:: NC_000006.12:95574786:GT:
Gene:: MANEA-DT (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.0002/1 (ALFA)
HGVS:: NC_000006.12:g.95574787_95574788del, NC_000006.11:g.96022663_96022664del

Select item 14913500712.

rs1491350071 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 6:95567782 (GRCh38)
6:96015658 (GRCh37)
Canonical SPDI:: NC_000006.12:95567781:CT:
Gene:: MANEA-DT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00415/67 (ALFA)
-=0.00434/64 (TOMMO)
HGVS:: NC_000006.12:g.95567782_95567783del, NC_000006.11:g.96015658_96015659del

Select item 14911615753.

rs1491161575 [Homo sapiens]

Variant type:: INS
Alleles:: ->AA [Show Flanks]
Chromosome:: 6:95574787 (GRCh38)
6:96022664 (GRCh37)
Canonical SPDI:: NC_000006.12:95574787::AA
Gene:: MANEA-DT (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
HGVS:: NC_000006.12:g.95574787_95574788insAA, NC_000006.11:g.96022663_96022664insAA

Select item 14911392384.

rs1491139238 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,CT,CTT,CTTT,CTTTT [Show Flanks]
Chromosome:: 6:95567782 (GRCh38)
6:96015659 (GRCh37)
Canonical SPDI:: NC_000006.12:95567782::A,NC_000006.12:95567782::CT,NC_000006.12:95567782::CTT,NC_000006.12:95567782::CTTT,NC_000006.12:95567782::CTTTT
Gene:: MANEA-DT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CT=0.00076/9 (ALFA)
HGVS:: NC_000006.12:g.95567782_95567783insA, NC_000006.12:g.95567782_95567783insCT, NC_000006.12:g.95567782_95567783insCTT, NC_000006.12:g.95567782_95567783insCTTT, NC_000006.12:g.95567782_95567783insCTTTT, NC_000006.11:g.96015658_96015659insA, NC_000006.11:g.96015658_96015659insCT, NC_000006.11:g.96015658_96015659insCTT, NC_000006.11:g.96015658_96015659insCTTT, NC_000006.11:g.96015658_96015659insCTTTT

Select item 14901106975.

rs1490110697 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:95560805 (GRCh38)
6:96008681 (GRCh37)
Canonical SPDI:: NC_000006.12:95560804:A:T
Gene:: MANEA-DT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.95560805A>T, NC_000006.11:g.96008681A>T

Select item 14901005676.

rs1490100567 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:95561725 (GRCh38)
6:96009601 (GRCh37)
Canonical SPDI:: NC_000006.12:95561724:C:A
Gene:: MANEA-DT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.95561725C>A, NC_000006.11:g.96009601C>A

Select item 14900933457.

rs1490093345 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCCC>- [Show Flanks]
Chromosome:: 6:95570601 (GRCh38)
6:96018477 (GRCh37)
Canonical SPDI:: NC_000006.12:95570599:CTCCC:C
Gene:: MANEA-DT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000006.12:g.95570601_95570604del, NC_000006.11:g.96018477_96018480del

Select item 14895657758.

rs1489565775 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:95561793 (GRCh38)
6:96009669 (GRCh37)
Canonical SPDI:: NC_000006.12:95561792:C:G,NC_000006.12:95561792:C:T
Gene:: MANEA-DT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000034/9 (TOPMED)
HGVS:: NC_000006.12:g.95561793C>G, NC_000006.12:g.95561793C>T, NC_000006.11:g.96009669C>G, NC_000006.11:g.96009669C>T

Select item 14894459459.

rs1489445945 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:95560371 (GRCh38)
6:96008247 (GRCh37)
Canonical SPDI:: NC_000006.12:95560370:G:A
Gene:: MANEA-DT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.95560371G>A, NC_000006.11:g.96008247G>A

Select item 148942958210.

rs1489429582 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:95561255 (GRCh38)
6:96009131 (GRCh37)
Canonical SPDI:: NC_000006.12:95561254:A:C
Gene:: MANEA-DT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000019/5 (TOPMED)
C=0.000342/1 (KOREAN)
HGVS:: NC_000006.12:g.95561255A>C, NC_000006.11:g.96009131A>C

Select item 148941532811.

rs1489415328 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:95577046 (GRCh38)
6:96024922 (GRCh37)
Canonical SPDI:: NC_000006.12:95577045:T:G
Gene:: MANEA (Varview), MANEA-DT (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000006.12:g.95577046T>G, NC_000006.11:g.96024922T>G, NR_047502.1:n.406A>C

Select item 148941323712.

rs1489413237 [Homo sapiens]

Variant type:: DEL
Alleles:: AAT>- [Show Flanks]
Chromosome:: 6:95569711 (GRCh38)
6:96017587 (GRCh37)
Canonical SPDI:: NC_000006.12:95569710:AAT:
Gene:: MANEA-DT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.95569711_95569713del, NC_000006.11:g.96017587_96017589del

Select item 148932102713.

rs1489321027 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 6:95575205 (GRCh38)
6:96023081 (GRCh37)
Canonical SPDI:: NC_000006.12:95575204:TT:T
Gene:: MANEA-DT (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.95575206del, NC_000006.11:g.96023082del, NR_047502.1:n.2247del

Select item 148930075214.

rs1489300752 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:95579022 (GRCh38)
6:96026898 (GRCh37)
Canonical SPDI:: NC_000006.12:95579021:G:C
Gene:: MANEA (Varview), MANEA-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.95579022G>C, NC_000006.11:g.96026898G>C

Select item 148913217515.

rs1489132175 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTA>- [Show Flanks]
Chromosome:: 6:95560215 (GRCh38)
6:96008091 (GRCh37)
Canonical SPDI:: NC_000006.12:95560211:CTACTA:CTA
Gene:: MANEA-DT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTACTA=0.000071/1 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000019/5 (TOPMED)
HGVS:: NC_000006.12:g.95560212CTA[1], NC_000006.11:g.96008088CTA[1]

Select item 148902592516.

rs1489025925 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:95574129 (GRCh38)
6:96022005 (GRCh37)
Canonical SPDI:: NC_000006.12:95574128:A:T
Gene:: MANEA-DT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.95574129A>T, NC_000006.11:g.96022005A>T

Select item 148900824217.

rs1489008242 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 6:95566241 (GRCh38)
6:96014117 (GRCh37)
Canonical SPDI:: NC_000006.12:95566240:A:C,NC_000006.12:95566240:A:G
Gene:: MANEA-DT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
G=0.001667/1 (NorthernSweden)
HGVS:: NC_000006.12:g.95566241A>C, NC_000006.12:g.95566241A>G, NC_000006.11:g.96014117A>C, NC_000006.11:g.96014117A>G

Select item 148862910918.

rs1488629109 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 6:95571065 (GRCh38)
6:96018941 (GRCh37)
Canonical SPDI:: NC_000006.12:95571064:A:G,NC_000006.12:95571064:A:T
Gene:: MANEA-DT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.95571065A>G, NC_000006.12:g.95571065A>T, NC_000006.11:g.96018941A>G, NC_000006.11:g.96018941A>T

Select item 148849349619.

rs1488493496 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:95566691 (GRCh38)
6:96014567 (GRCh37)
Canonical SPDI:: NC_000006.12:95566690:A:G
Gene:: MANEA-DT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000006.12:g.95566691A>G, NC_000006.11:g.96014567A>G

Select item 148848349620.

rs1488483496 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:95573879 (GRCh38)
6:96021755 (GRCh37)
Canonical SPDI:: NC_000006.12:95573878:G:C
Gene:: MANEA-DT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.95573879G>C, NC_000006.11:g.96021755G>C

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