SNP Links for Gene (Select 6344) - SNP

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Select item 14915834191.

rs1491583419 [Homo sapiens]

Variant type:: INS
Alleles:: ->CG [Show Flanks]
Chromosome:: 2:119444779 (GRCh38)
2:120202356 (GRCh37)
Canonical SPDI:: NC_000002.12:119444779::CG
Gene:: SCTR (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CG=0.00177/21 (ALFA)
HGVS:: NC_000002.12:g.119444779_119444780insCG, NC_000002.11:g.120202355_120202356insCG, NG_029904.1:g.84673_84674insCG

Select item 14915755882.

rs1491575588 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 2:119444151 (GRCh38)
2:120201727 (GRCh37)
Canonical SPDI:: NC_000002.12:119444150:TT:
Gene:: SCTR (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/1 (GnomAD)
HGVS:: NC_000002.12:g.119444151_119444152del, NC_000002.11:g.120201727_120201728del, NG_029904.1:g.85301_85302del

Select item 14915747683.

rs1491574768 [Homo sapiens]

Variant type:: INS
Alleles:: ->CG [Show Flanks]
Chromosome:: 2:119444317 (GRCh38)
2:120201894 (GRCh37)
Canonical SPDI:: NC_000002.12:119444317::CG
Gene:: SCTR (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CG=0.0032/38 (ALFA)
HGVS:: NC_000002.12:g.119444317_119444318insCG, NC_000002.11:g.120201893_120201894insCG, NG_029904.1:g.85135_85136insCG

Select item 14915158314.

rs1491515831 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 2:119444920 (GRCh38)
2:120202496 (GRCh37)
Canonical SPDI:: NC_000002.12:119444919:AA:
Gene:: SCTR (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000002.12:g.119444920_119444921del, NC_000002.11:g.120202496_120202497del, NG_029904.1:g.84532_84533del

Select item 14914944475.

rs1491494447 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CT [Show Flanks]
Chromosome:: 2:119508384 (GRCh38)
2:120265961 (GRCh37)
Canonical SPDI:: NC_000002.12:119508384:T:TCT
Gene:: SCTR (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCT=0.00034/4 (ALFA)
TC=0.00108/23 (TOMMO)
HGVS:: NC_000002.12:g.119508385_119508386insCT, NC_000002.11:g.120265961_120265962insCT, NG_029904.1:g.21068_21069insGA

Select item 14914395876.

rs1491439587 has merged into rs1423594255 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>-,CACA [Show Flanks]
Chromosome:: 2:119444292 (GRCh38)
2:120201868 (GRCh37)
Canonical SPDI:: NC_000002.12:119444288:ACACA:ACA,NC_000002.12:119444288:ACACA:ACACACA
Gene:: SCTR (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACA=0./0 (ALFA)
-=0.00006/1 (TOMMO)
-=0.000504/61 (GnomAD)
HGVS:: NC_000002.12:g.119444290CA[1], NC_000002.12:g.119444290CA[3], NC_000002.11:g.120201866CA[1], NC_000002.11:g.120201866CA[3], NG_029904.1:g.85161GT[1], NG_029904.1:g.85161GT[3]

Select item 14914243887.

rs1491424388 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 2:119444282 (GRCh38)
2:120201858 (GRCh37)
Canonical SPDI:: NC_000002.12:119444281:AA:
Gene:: SCTR (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000002.12:g.119444282_119444283del, NC_000002.11:g.120201858_120201859del, NG_029904.1:g.85170_85171del

Select item 14914090798.

rs1491409079 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 2:119493641 (GRCh38)
2:120251217 (GRCh37)
Canonical SPDI:: NC_000002.12:119493639:TCT:T
Gene:: SCTR (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.00002/2 (GnomAD)
-=0.00011/2 (TOMMO)
HGVS:: NC_000002.12:g.119493641_119493642del, NC_000002.11:g.120251217_120251218del, NG_029904.1:g.35812_35813del

Select item 14913182979.

rs1491318297 has merged into rs61479294 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:119503168 (GRCh38)
2:120260744 (GRCh37)
Canonical SPDI:: NC_000002.12:119503158:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000002.12:119503158:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:119503158:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:119503158:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:119503158:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:119503158:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:119503158:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:119503158:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:119503158:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:119503158:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:119503158:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:119503158:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:119503158:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:119503158:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:119503158:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:119503158:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:119503158:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SCTR (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.000015/4 (TOPMED)
-=0.151957/761 (1000Genomes)
HGVS:: NC_000002.12:g.119503168_119503177del, NC_000002.12:g.119503169_119503177del, NC_000002.12:g.119503170_119503177del, NC_000002.12:g.119503171_119503177del, NC_000002.12:g.119503172_119503177del, NC_000002.12:g.119503173_119503177del, NC_000002.12:g.119503174_119503177del, NC_000002.12:g.119503175_119503177del, NC_000002.12:g.119503176_119503177del, NC_000002.12:g.119503177del, NC_000002.12:g.119503177dup, NC_000002.12:g.119503176_119503177dup, NC_000002.12:g.119503175_119503177dup, NC_000002.12:g.119503173_119503177dup, NC_000002.12:g.119503172_119503177dup, NC_000002.12:g.119503171_119503177dup, NC_000002.12:g.119503177_119503178insAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.120260744_120260753del, NC_000002.11:g.120260745_120260753del, NC_000002.11:g.120260746_120260753del, NC_000002.11:g.120260747_120260753del, NC_000002.11:g.120260748_120260753del, NC_000002.11:g.120260749_120260753del, NC_000002.11:g.120260750_120260753del, NC_000002.11:g.120260751_120260753del, NC_000002.11:g.120260752_120260753del, NC_000002.11:g.120260753del, NC_000002.11:g.120260753dup, NC_000002.11:g.120260752_120260753dup, NC_000002.11:g.120260751_120260753dup, NC_000002.11:g.120260749_120260753dup, NC_000002.11:g.120260748_120260753dup, NC_000002.11:g.120260747_120260753dup, NC_000002.11:g.120260753_120260754insAAAAAAAAAAAAAAAAAAAAA, NG_029904.1:g.26285_26294del, NG_029904.1:g.26286_26294del, NG_029904.1:g.26287_26294del, NG_029904.1:g.26288_26294del, NG_029904.1:g.26289_26294del, NG_029904.1:g.26290_26294del, NG_029904.1:g.26291_26294del, NG_029904.1:g.26292_26294del, NG_029904.1:g.26293_26294del, NG_029904.1:g.26294del, NG_029904.1:g.26294dup, NG_029904.1:g.26293_26294dup, NG_029904.1:g.26292_26294dup, NG_029904.1:g.26290_26294dup, NG_029904.1:g.26289_26294dup, NG_029904.1:g.26288_26294dup, NG_029904.1:g.26294_26295insTTTTTTTTTTTTTTTTTTTTT

Select item 149130413710.

rs1491304137 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 2:119444306 (GRCh38)
2:120201882 (GRCh37)
Canonical SPDI:: NC_000002.12:119444305:AA:
Gene:: SCTR (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000002.12:g.119444306_119444307del, NC_000002.11:g.120201882_120201883del, NG_029904.1:g.85146_85147del

Select item 149129182411.

rs1491291824 has merged into rs10643411 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATA>-,TA,TATATA,TATATATA,TATATATATA,TATATATATATA [Show Flanks]
Chromosome:: 2:119475617 (GRCh38)
2:120233193 (GRCh37)
Canonical SPDI:: NC_000002.12:119475603:ATATATATATATATATA:ATATATATATATA,NC_000002.12:119475603:ATATATATATATATATA:ATATATATATATATA,NC_000002.12:119475603:ATATATATATATATATA:ATATATATATATATATATA,NC_000002.12:119475603:ATATATATATATATATA:ATATATATATATATATATATA,NC_000002.12:119475603:ATATATATATATATATA:ATATATATATATATATATATATA,NC_000002.12:119475603:ATATATATATATATATA:ATATATATATATATATATATATATA
Gene:: SCTR (Varview), SCTR-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATATATATATATA=0./0 (ALFA)
-=0.3413/1709 (1000Genomes)
HGVS:: NC_000002.12:g.119475605TA[6], NC_000002.12:g.119475605TA[7], NC_000002.12:g.119475605TA[9], NC_000002.12:g.119475605TA[10], NC_000002.12:g.119475605TA[11], NC_000002.12:g.119475605TA[12], NC_000002.11:g.120233181TA[6], NC_000002.11:g.120233181TA[7], NC_000002.11:g.120233181TA[9], NC_000002.11:g.120233181TA[10], NC_000002.11:g.120233181TA[11], NC_000002.11:g.120233181TA[12], NG_029904.1:g.53834AT[6], NG_029904.1:g.53834AT[7], NG_029904.1:g.53834AT[9], NG_029904.1:g.53834AT[10], NG_029904.1:g.53834AT[11], NG_029904.1:g.53834AT[12]

Select item 149128150712.

rs1491281507 [Homo sapiens]

Variant type:: INS
Alleles:: ->GT [Show Flanks]
Chromosome:: 2:119444282 (GRCh38)
2:120201859 (GRCh37)
Canonical SPDI:: NC_000002.12:119444282::GT
Gene:: SCTR (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GT=0.00008/1 (ALFA)
HGVS:: NC_000002.12:g.119444282_119444283insGT, NC_000002.11:g.120201858_120201859insGT, NG_029904.1:g.85170_85171insAC

Select item 149127463513.

rs1491274635 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 2:119509998 (GRCh38)
2:120267574 (GRCh37)
Canonical SPDI:: NC_000002.12:119509996:TAT:T
Gene:: SCTR (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.119509998_119509999del, NC_000002.11:g.120267574_120267575del, NG_029904.1:g.19455_19456del

Select item 149127356114.

rs1491273561 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATA>-,TA [Show Flanks]
Chromosome:: 2:119444296 (GRCh38)
2:120201872 (GRCh37)
Canonical SPDI:: NC_000002.12:119444292:ATATATA:ATA,NC_000002.12:119444292:ATATATA:ATATA
Gene:: SCTR (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATA=0./0 (ALFA)
-=0.00011/3 (TOMMO)
HGVS:: NC_000002.12:g.119444294TA[1], NC_000002.12:g.119444294TA[2], NC_000002.11:g.120201870TA[1], NC_000002.11:g.120201870TA[2], NG_029904.1:g.85155AT[1], NG_029904.1:g.85155AT[2]

Select item 149116089515.

rs1491160895 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 2:119444784 (GRCh38)
2:120202360 (GRCh37)
Canonical SPDI:: NC_000002.12:119444778:ATATATA:ATATA
Gene:: SCTR (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: ATATA=0.01012/120 (ALFA)
HGVS:: NC_000002.12:g.119444780TA[2], NC_000002.11:g.120202356TA[2], NG_029904.1:g.84669AT[2]

Select item 149116012716.

rs1491160127 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:119503158 (GRCh38)
2:120260734 (GRCh37)
Canonical SPDI:: NC_000002.12:119503157:CA:
Gene:: SCTR (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00025/3 (ALFA)
HGVS:: NC_000002.12:g.119503158_119503159del, NC_000002.11:g.120260734_120260735del, NG_029904.1:g.26294_26295del

Select item 149114224017.

rs1491142240 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 2:119493640 (GRCh38)
2:120251217 (GRCh37)
Canonical SPDI:: NC_000002.12:119493640:C:CC
Gene:: SCTR (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
C=0.00004/3 (GnomAD)
HGVS:: NC_000002.12:g.119493641dup, NC_000002.11:g.120251217dup, NG_029904.1:g.35812dup

Select item 149113314718.

rs1491133147 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 2:119517061 (GRCh38)
2:120274637 (GRCh37)
Canonical SPDI:: NC_000002.12:119517060:AT:
Gene:: SCTR (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000002.12:g.119517061_119517062del, NC_000002.11:g.120274637_120274638del, NG_029904.1:g.12391_12392del

Select item 149112541319.

rs1491125413 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:119461711 (GRCh38)
2:120219287 (GRCh37)
Canonical SPDI:: NC_000002.12:119461710:CA:
Gene:: SCTR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00093/11 (ALFA)
-=0.00241/40 (TOMMO)
HGVS:: NC_000002.12:g.119461711_119461712del, NC_000002.11:g.120219287_120219288del, NG_029904.1:g.67741_67742del

Select item 149112455920.

rs1491124559 [Homo sapiens]

Variant type:: INS
Alleles:: ->CG [Show Flanks]
Chromosome:: 2:119444293 (GRCh38)
2:120201870 (GRCh37)
Canonical SPDI:: NC_000002.12:119444293::CG
Gene:: SCTR (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CG=0.00135/16 (ALFA)
HGVS:: NC_000002.12:g.119444293_119444294insCG, NC_000002.11:g.120201869_120201870insCG, NG_029904.1:g.85159_85160insCG

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