SNP Links for Gene (Select 85358) - SNP

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Select item 14915770141.

rs1491577014 [Homo sapiens]

Variant type:: INS
Alleles:: ->CG [Show Flanks]
Chromosome:: 22:50680902 (GRCh38)
22:51119331 (GRCh37)
Canonical SPDI:: NC_000022.11:50680902::CG
Gene:: SHANK3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CG=0./0 (ALFA)
HGVS:: NC_000022.11:g.50680902_50680903insCG, NC_000022.10:g.51119330_51119331insCG, NG_070230.1:g.16581_16582insCG, NW_015148969.2:g.16916_16917insCG

Select item 14915644352.

rs1491564435 [Homo sapiens]

Variant type:: INS
Alleles:: ->CCATGGAGGCCCC [Show Flanks]
Chromosome:: 22:50697499 (GRCh38)
22:51135928 (GRCh37)
Canonical SPDI:: NC_000022.11:50697499::CCATGGAGGCCCC
Gene:: SHANK3 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000022.11:g.50697499_50697500insCCATGGAGGCCCC, NC_000022.10:g.51135927_51135928insCCATGGAGGCCCC, NG_070230.1:g.33077_33078insCCATGGAGGCCCC, NW_015148969.2:g.33412_33413insCCATGGAGGCCCC

Select item 14915375393.

rs1491537539 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 22:50714360 (GRCh38)
22:51152789 (GRCh37)
Canonical SPDI:: NC_000022.11:50714360:GGGGG:GGGGGG
Gene:: SHANK3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.50714365dup, NC_000022.10:g.51152793dup, NG_070230.1:g.50231dup, NW_015148969.2:g.50566dup

Select item 14915239704.

rs1491523970 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 22:50697538 (GRCh38)
22:51135966 (GRCh37)
Canonical SPDI:: NC_000022.11:50697536:GAG:G
Gene:: SHANK3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.0009/4 (ALFA)
-=0.00024/4 (TOMMO)
-=0.0009/4 (Estonian)
HGVS:: NC_000022.11:g.50697538_50697539del, NC_000022.10:g.51135966_51135967del, NG_070230.1:g.33116_33117del, NW_015148969.2:g.33451_33452del, NM_001080420.1:c.1369_1370del

Select item 14915175685.

rs1491517568 [Homo sapiens]

Variant type:: INS
Alleles:: ->CG [Show Flanks]
Chromosome:: 22:50682304 (GRCh38)
22:51120733 (GRCh37)
Canonical SPDI:: NC_000022.11:50682304::CG
Gene:: SHANK3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CG=0.02504/297 (ALFA)
CG=0.00011/2 (TOMMO)
CG=0.00111/59 (GnomAD)
HGVS:: NC_000022.11:g.50682304_50682305insCG, NC_000022.10:g.51120732_51120733insCG, NG_070230.1:g.17983_17984insCG, NW_015148969.2:g.18318_18319insCG

Select item 14915175166.

rs1491517516 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 22:50680209 (GRCh38)
22:51118638 (GRCh37)
Canonical SPDI:: NC_000022.11:50680209::G
Gene:: SHANK3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.0025/16 (1000Genomes)
HGVS:: NC_000022.11:g.50680209_50680210insG, NC_000022.10:g.51118637_51118638insG, NG_070230.1:g.15974_15975insG, NW_015148969.2:g.16309_16310insG

Select item 14915173517.

rs1491517351 [Homo sapiens]

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

Select item 14915017398.

rs1491501739 has merged into rs974731013 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>-,TGTG [Show Flanks]
Chromosome:: 22:50681085 (GRCh38)
22:51119513 (GRCh37)
Canonical SPDI:: NC_000022.11:50681074:TGTGTGTGTGTG:TGTGTGTGTG,NC_000022.11:50681074:TGTGTGTGTGTG:TGTGTGTGTGTGTG
Gene:: SHANK3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTG=0.00005/1 (ALFA)
HGVS:: NC_000022.11:g.50681075TG[5], NC_000022.11:g.50681075TG[7], NC_000022.10:g.51119503TG[5], NC_000022.10:g.51119503TG[7], NG_070230.1:g.16754TG[5], NG_070230.1:g.16754TG[7], NW_015148969.2:g.17089TG[5], NW_015148969.2:g.17089TG[7]

Select item 14914796539.

rs1491479653 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 22:50697510 (GRCh38)
22:51135939 (GRCh37)
Canonical SPDI:: NC_000022.11:50697510::C
Gene:: SHANK3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.00012/2 (TOMMO)
C=0.000148/20 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000022.11:g.50697510_50697511insC, NC_000022.10:g.51135938_51135939insC, NG_070230.1:g.33088_33089insC, NW_015148969.2:g.33423_33424insC

Select item 149143883210.

rs1491438832 [Homo sapiens]

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

Select item 149137940711.

rs1491379407 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,ATGGCTGGGCTGTGGGG,T,TG,TGCATGGGGTGGGGAGGAA,TGGGCTGTGGGG,TGGGCTGTGGGGCTGCATGGGGTGGGGAGGAACGGGGCTGGGGG,TGGGCTGTGGGGCTGCATGGGGTGGGGAGGAACGGGGCTGGGGGATGGCTGGGCTGTGGGGCTGCATGGGGTGGGGAGGAA,TGGGCTGTGGGGCTGCATGGGGTGGGGAGGAACGGGGCTGGGGTATGGCTGGGCTGTGGGGCTGCATGGGGTGGGGAGGAA,TGGGCTGTGGGGCTGCATGGGGTGGGGAGGAACGGGGCTGGGGTATGGCTGGGCTGTGGGGCTGCATGGGGTGGGGAGGAACGGGGCTGGGGG [Show Flanks]
Chromosome:: 22:50715804 (GRCh38)
22:51154233 (GRCh37)
Canonical SPDI:: NC_000022.11:50715804::A,NC_000022.11:50715804::ATGGCTGGGCTGTGGGG,NC_000022.11:50715804::T,NC_000022.11:50715804::TG,NC_000022.11:50715804::TGCATGGGGTGGGGAGGAA,NC_000022.11:50715804::TGGGCTGTGGGG,NC_000022.11:50715804::TGGGCTGTGGGGCTGCATGGGGTGGGGAGGAACGGGGCTGGGGG,NC_000022.11:50715804::TGGGCTGTGGGGCTGCATGGGGTGGGGAGGAACGGGGCTGGGGGATGGCTGGGCTGTGGGGCTGCATGGGGTGGGGAGGAA,NC_000022.11:50715804::TGGGCTGTGGGGCTGCATGGGGTGGGGAGGAACGGGGCTGGGGTATGGCTGGGCTGTGGGGCTGCATGGGGTGGGGAGGAA,NC_000022.11:50715804::TGGGCTGTGGGGCTGCATGGGGTGGGGAGGAACGGGGCTGGGGTATGGCTGGGCTGTGGGGCTGCATGGGGTGGGGAGGAACGGGGCTGGGGG
Gene:: SHANK3 (Varview)
Functional Consequence:: intron_variant
Validated:: by cluster
HGVS:: NC_000022.11:g.50715804_50715805insA, NC_000022.11:g.50715804_50715805insATGGCTGGGCTGTGGGG, NC_000022.11:g.50715804_50715805insT, NC_000022.11:g.50715804_50715805insTG, NC_000022.11:g.50715804_50715805insTGCATGGGGTGGGGAGGAA, NC_000022.11:g.50715804_50715805insTGGGCTGTGGGG, NC_000022.11:g.50715804_50715805insTGGGCTGTGGGGCTGCATGGGGTGGGGAGGAACGGGGCTGGGGG, NC_000022.11:g.50715804_50715805insTGGGCTGTGGGGCTGCATGGGGTGGGGAGGAACGGGGCTGGGGGATGGCTGGGCTGTGGGGCTGCATGGGGTGGGGAGGAA, NC_000022.11:g.50715804_50715805insTGGGCTGTGGGGCTGCATGGGGTGGGGAGGAACGGGGCTGGGGTATGGCTGGGCTGTGGGGCTGCATGGGGTGGGGAGGAA, NC_000022.11:g.50715804_50715805insTGGGCTGTGGGGCTGCATGGGGTGGGGAGGAACGGGGCTGGGGTATGGCTGGGCTGTGGGGCTGCATGGGGTGGGGAGGAACGGGGCTGGGGG, NC_000022.10:g.51154232_51154233insA, NC_000022.10:g.51154232_51154233insATGGCTGGGCTGTGGGG, NC_000022.10:g.51154232_51154233insT, NC_000022.10:g.51154232_51154233insTG, NC_000022.10:g.51154232_51154233insTGCATGGGGTGGGGAGGAA, NC_000022.10:g.51154232_51154233insTGGGCTGTGGGG, NC_000022.10:g.51154232_51154233insTGGGCTGTGGGGCTGCATGGGGTGGGGAGGAACGGGGCTGGGGG, NC_000022.10:g.51154232_51154233insTGGGCTGTGGGGCTGCATGGGGTGGGGAGGAACGGGGCTGGGGGATGGCTGGGCTGTGGGGCTGCATGGGGTGGGGAGGAA, NC_000022.10:g.51154232_51154233insTGGGCTGTGGGGCTGCATGGGGTGGGGAGGAACGGGGCTGGGGTATGGCTGGGCTGTGGGGCTGCATGGGGTGGGGAGGAA, NC_000022.10:g.51154232_51154233insTGGGCTGTGGGGCTGCATGGGGTGGGGAGGAACGGGGCTGGGGTATGGCTGGGCTGTGGGGCTGCATGGGGTGGGGAGGAACGGGGCTGGGGG, NG_070230.1:g.51670_51671insA, NG_070230.1:g.51670_51671insATGGCTGGGCTGTGGGG, NG_070230.1:g.51670_51671insT, NG_070230.1:g.51670_51671insTG, NG_070230.1:g.51670_51671insTGCATGGGGTGGGGAGGAA, NG_070230.1:g.51670_51671insTGGGCTGTGGGG, NG_070230.1:g.51670_51671insTGGGCTGTGGGGCTGCATGGGGTGGGGAGGAACGGGGCTGGGGG, NG_070230.1:g.51670_51671insTGGGCTGTGGGGCTGCATGGGGTGGGGAGGAACGGGGCTGGGGGATGGCTGGGCTGTGGGGCTGCATGGGGTGGGGAGGAA, NG_070230.1:g.51670_51671insTGGGCTGTGGGGCTGCATGGGGTGGGGAGGAACGGGGCTGGGGTATGGCTGGGCTGTGGGGCTGCATGGGGTGGGGAGGAA, NG_070230.1:g.51670_51671insTGGGCTGTGGGGCTGCATGGGGTGGGGAGGAACGGGGCTGGGGTATGGCTGGGCTGTGGGGCTGCATGGGGTGGGGAGGAACGGGGCTGGGGG, NW_015148969.2:g.52005_52006insA, NW_015148969.2:g.52005_52006insATGGCTGGGCTGTGGGG, NW_015148969.2:g.52005_52006insT, NW_015148969.2:g.52005_52006insTG, NW_015148969.2:g.52005_52006insTGCATGGGGTGGGGAGGAA, NW_015148969.2:g.52005_52006insTGGGCTGTGGGG, NW_015148969.2:g.52005_52006insTGGGCTGTGGGGCTGCATGGGGTGGGGAGGAACGGGGCTGGGGG, NW_015148969.2:g.52005_52006insTGGGCTGTGGGGCTGCATGGGGTGGGGAGGAACGGGGCTGGGGGATGGCTGGGCTGTGGGGCTGCATGGGGTGGGGAGGAA, NW_015148969.2:g.52005_52006insTGGGCTGTGGGGCTGCATGGGGTGGGGAGGAACGGGGCTGGGGTATGGCTGGGCTGTGGGGCTGCATGGGGTGGGGAGGAA, NW_015148969.2:g.52005_52006insTGGGCTGTGGGGCTGCATGGGGTGGGGAGGAACGGGGCTGGGGTATGGCTGGGCTGTGGGGCTGCATGGGGTGGGGAGGAACGGGGCTGGGGG

Select item 149137440112.

rs1491374401 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>-,AGAG [Show Flanks]
Chromosome:: 22:50683801 (GRCh38)
22:51122229 (GRCh37)
Canonical SPDI:: NC_000022.11:50683799:GAG:G,NC_000022.11:50683799:GAG:GAGAG
Gene:: SHANK3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGAG=0./0 (ALFA)
GA=0.00223/20 (TOMMO)
HGVS:: NC_000022.11:g.50683801_50683802del, NC_000022.11:g.50683801_50683802dup, NC_000022.10:g.51122229_51122230del, NC_000022.10:g.51122229_51122230dup, NG_070230.1:g.19534dup, NG_070230.1:g.19530del, NG_070230.1:g.19531_19532insAGG, NW_015148969.2:g.19549AG[1], NW_015148969.2:g.19549AG[3]

Select item 149134190413.

rs1491341904 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 22:50682830 (GRCh38)
22:51121258 (GRCh37)
Canonical SPDI:: NC_000022.11:50682829:AT:
Gene:: SHANK3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000022.11:g.50682830_50682831del, NC_000022.10:g.51121258_51121259del, NW_015148969.2:g.18580_18581del

Select item 149131105514.

rs1491311055 has merged into rs1438640464 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>-,AGAG [Show Flanks]
Chromosome:: 22:50683773 (GRCh38)
22:51122201 (GRCh37)
Canonical SPDI:: NC_000022.11:50683771:GAG:G,NC_000022.11:50683771:GAG:GAGAG
Gene:: SHANK3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGAG=0./0 (ALFA)
GA=0.00021/1 (GnomAD)
GA=0.00078/10 (TOMMO)
HGVS:: NC_000022.11:g.50683773_50683774del, NC_000022.11:g.50683773_50683774dup, NC_000022.10:g.51122201_51122202del, NC_000022.10:g.51122201_51122202dup, NG_070230.1:g.19495_19496del, NG_070230.1:g.19495_19496dup, NW_015148969.2:g.19830_19831del, NW_015148969.2:g.19830_19831dup

Select item 149129421215.

rs1491294212 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 22:50683799 (GRCh38)
22:51122227 (GRCh37)
Canonical SPDI:: NC_000022.11:50683798:GG:
Gene:: SHANK3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000022.11:g.50683799_50683800del, NC_000022.10:g.51122227_51122228del, NG_070230.1:g.19528_19529del, NW_015148969.2:g.19863_19864del

Select item 149128434716.

rs1491284347 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 22:50682304 (GRCh38)
22:51120732 (GRCh37)
Canonical SPDI:: NC_000022.11:50682303:AT:
Gene:: SHANK3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000022.11:g.50682304_50682305del, NC_000022.10:g.51120732_51120733del, NG_070230.1:g.17983_17984del, NW_015148969.2:g.18318_18319del

Select item 149126877517.

rs1491268775 [Homo sapiens]

Variant type:: INS
Alleles:: ->CG [Show Flanks]
Chromosome:: 22:50680816 (GRCh38)
22:51119245 (GRCh37)
Canonical SPDI:: NC_000022.11:50680816::CG
Gene:: SHANK3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CG=0./0 (ALFA)
CG=0.00335/6 (Korea1K)
CG=0.00498/75 (TOMMO)
HGVS:: NC_000022.11:g.50680816_50680817insCG, NC_000022.10:g.51119244_51119245insCG, NG_070230.1:g.16495_16496insCG, NW_015148969.2:g.16830_16831insCG

Select item 149126491418.

rs1491264914 [Homo sapiens]

Variant type:: INS
Alleles:: ->CG [Show Flanks]
Chromosome:: 22:50682830 (GRCh38)
22:51121259 (GRCh37)
Canonical SPDI:: NC_000022.11:50682830::CG
Gene:: SHANK3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CG=0./0 (ALFA)
HGVS:: NC_000022.11:g.50682830_50682831insCG, NC_000022.10:g.51121258_51121259insCG, NW_015148969.2:g.18580_18581insCG

Select item 149125449719.

rs1491254497 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 22:50711030 (GRCh38)
22:51149458 (GRCh37)
Canonical SPDI:: NC_000022.11:50711025:CACACA:CACA
Gene:: SHANK3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.50711026CA[2], NC_000022.10:g.51149454CA[2], NG_070230.1:g.46892CA[2], NW_015148969.2:g.47227CA[2]

Select item 149123539020.

rs1491235390 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,G [Show Flanks]
Chromosome:: 22:50697501 (GRCh38)
22:51135929 (GRCh37)
Canonical SPDI:: NC_000022.11:50697498:GGGG:GG,NC_000022.11:50697498:GGGG:GGG
Gene:: SHANK3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGG=0.000895/4 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000107/2 (TOMMO)
-=0.000468/3 (1000Genomes)
-=0.000893/4 (Estonian)
HGVS:: NC_000022.11:g.50697501_50697502del, NC_000022.11:g.50697502del, NC_000022.10:g.51135929_51135930del, NC_000022.10:g.51135930del, NG_070230.1:g.33079_33080del, NG_070230.1:g.33080del, NW_015148969.2:g.33414_33415del, NW_015148969.2:g.33415del

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