SNP Links for Gene (Select 7164) - SNP

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Select item 14915803881.

rs1491580388 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 6:125180562 (GRCh38)
6:125501708 (GRCh37)
Canonical SPDI:: NC_000006.12:125180561:TT:
Gene:: TPD52L1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.003/11 (TWINSUK)
-=0.0036/14 (ALSPAC)
HGVS:: NC_000006.12:g.125180562_125180563del, NC_000006.11:g.125501708_125501709del, NG_029911.1:g.31830_31831del

Select item 14915771332.

rs1491577133 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TAT [Show Flanks]
Chromosome:: 6:125172553 (GRCh38)
6:125493700 (GRCh37)
Canonical SPDI:: NC_000006.12:125172553:TAT:TATTAT
Gene:: TPD52L1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: TAT=0.00012/7 (GnomAD)
TAT=0.00017/2 (TOMMO)
HGVS:: NC_000006.12:g.125172554_125172556dup, NC_000006.11:g.125493700_125493702dup, NG_029911.1:g.23822_23824dup

Select item 14915682043.

rs1491568204 has merged into rs34678154 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTTTT [Show Flanks]
Chromosome:: 6:125172159 (GRCh38)
6:125493305 (GRCh37)
Canonical SPDI:: NC_000006.12:125172156:TTTT:TT,NC_000006.12:125172156:TTTT:TTT,NC_000006.12:125172156:TTTT:TTTTT,NC_000006.12:125172156:TTTT:TTTTTTTT
Gene:: TPD52L1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0./0 (ALFA)
-=0.061/972 (TOMMO)
-=0.06667/36 (NorthernSweden)
HGVS:: NC_000006.12:g.125172159_125172160del, NC_000006.12:g.125172160del, NC_000006.12:g.125172160dup, NC_000006.12:g.125172157_125172160dup, NC_000006.11:g.125493305_125493306del, NC_000006.11:g.125493306del, NC_000006.11:g.125493306dup, NC_000006.11:g.125493303_125493306dup, NG_029911.1:g.23427_23428del, NG_029911.1:g.23428del, NG_029911.1:g.23428dup, NG_029911.1:g.23425_23428dup

Select item 14915666144.

rs1491566614 has merged into rs11341964 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA [Show Flanks]
Chromosome:: 6:125260978 (GRCh38)
6:125582124 (GRCh37)
Canonical SPDI:: NC_000006.12:125260976:AAAA:A,NC_000006.12:125260976:AAAA:AA,NC_000006.12:125260976:AAAA:AAA,NC_000006.12:125260976:AAAA:AAAAA
Gene:: TPD52L1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.05308/31 (NorthernSweden)
HGVS:: NC_000006.12:g.125260978_125260980del, NC_000006.12:g.125260979_125260980del, NC_000006.12:g.125260980del, NC_000006.12:g.125260980dup, NC_000006.11:g.125582124_125582126del, NC_000006.11:g.125582125_125582126del, NC_000006.11:g.125582126del, NC_000006.11:g.125582126dup, NG_029911.1:g.112246_112248del, NG_029911.1:g.112247_112248del, NG_029911.1:g.112248del, NG_029911.1:g.112248dup

Select item 14915632955.

rs1491563295 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 6:125192336 (GRCh38)
6:125513482 (GRCh37)
Canonical SPDI:: NC_000006.12:125192334:TAT:T
Gene:: TPD52L1 (Varview), LOC100126584 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.125192336_125192337del, NC_000006.11:g.125513482_125513483del, NG_029911.1:g.43604_43605del

Select item 14915606186.

rs1491560618 has merged into rs59798804 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT [Show Flanks]
Chromosome:: 6:125172487 (GRCh38)
6:125493633 (GRCh37)
Canonical SPDI:: NC_000006.12:125172478:TTTTTTTTTT:TTTTTTTT,NC_000006.12:125172478:TTTTTTTTTT:TTTTTTTTT,NC_000006.12:125172478:TTTTTTTTTT:TTTTTTTTTTT
Gene:: TPD52L1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
T=0.003401/2 (NorthernSweden)
HGVS:: NC_000006.12:g.125172487_125172488del, NC_000006.12:g.125172488del, NC_000006.12:g.125172488dup, NC_000006.11:g.125493633_125493634del, NC_000006.11:g.125493634del, NC_000006.11:g.125493634dup, NG_029911.1:g.23755_23756del, NG_029911.1:g.23756del, NG_029911.1:g.23756dup

Select item 14915424607.

rs1491542460 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCT,GCT,GCTTGCT [Show Flanks]
Chromosome:: 6:125172157 (GRCh38)
6:125493304 (GRCh37)
Canonical SPDI:: NC_000006.12:125172157:T:TCCT,NC_000006.12:125172157:T:TGCT,NC_000006.12:125172157:T:TGCTTGCT
Gene:: TPD52L1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TGCT=0./0 (ALFA)
HGVS:: NC_000006.12:g.125172158_125172159insCCT, NC_000006.12:g.125172158_125172159insGCT, NC_000006.12:g.125172158_125172159insGCTTGCT, NC_000006.11:g.125493304_125493305insCCT, NC_000006.11:g.125493304_125493305insGCT, NC_000006.11:g.125493304_125493305insGCTTGCT, NG_029911.1:g.23426_23427insCCT, NG_029911.1:g.23426_23427insGCT, NG_029911.1:g.23426_23427insGCTTGCT

Select item 14915365368.

rs1491536536 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>-,GAGA [Show Flanks]
Chromosome:: 6:125260948 (GRCh38)
6:125582094 (GRCh37)
Canonical SPDI:: NC_000006.12:125260946:AGA:A,NC_000006.12:125260946:AGA:AGAGA
Gene:: TPD52L1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGA=0./0 (ALFA)
-=0.00107/38 (GnomAD)
-=0.00605/57 (TOMMO)
-=0.01641/17 (Korea1K)
HGVS:: NC_000006.12:g.125260948_125260949del, NC_000006.12:g.125260948_125260949dup, NC_000006.11:g.125582094_125582095del, NC_000006.11:g.125582094_125582095dup, NG_029911.1:g.112216_112217del, NG_029911.1:g.112216_112217dup

Select item 14915259019.

rs1491525901 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 6:125260951 (GRCh38)
6:125582098 (GRCh37)
Canonical SPDI:: NC_000006.12:125260951:G:GG
Gene:: TPD52L1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
HGVS:: NC_000006.12:g.125260952dup, NC_000006.11:g.125582098dup, NG_029911.1:g.112220dup

Select item 149152440110.

rs1491524401 has merged into rs1301969436 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,TTT [Show Flanks]
Chromosome:: 6:125172114 (GRCh38)
6:125493260 (GRCh37)
Canonical SPDI:: NC_000006.12:125172112:TTT:T,NC_000006.12:125172112:TTT:TTTT
Gene:: TPD52L1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TTTT=0./0 (ALFA)
-=0.00002/1 (GnomAD)
HGVS:: NC_000006.12:g.125172114_125172115del, NC_000006.12:g.125172115dup, NC_000006.11:g.125493260_125493261del, NC_000006.11:g.125493261dup, NG_029911.1:g.23382_23383del, NG_029911.1:g.23383dup

Select item 149152265211.

rs1491522652 has merged into rs11294390 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 6:125223717 (GRCh38)
6:125544863 (GRCh37)
Canonical SPDI:: NC_000006.12:125223708:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000006.12:125223708:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000006.12:125223708:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:125223708:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:125223708:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:125223708:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:125223708:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:125223708:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:125223708:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:125223708:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:125223708:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:125223708:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:125223708:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:125223708:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:125223708:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:125223708:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:125223708:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:125223708:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:125223708:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:125223708:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:125223708:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:125223708:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:125223708:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:125223708:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: TPD52L1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.1322/662 (1000Genomes)
HGVS:: NC_000006.12:g.125223717_125223731del, NC_000006.12:g.125223719_125223731del, NC_000006.12:g.125223720_125223731del, NC_000006.12:g.125223721_125223731del, NC_000006.12:g.125223722_125223731del, NC_000006.12:g.125223723_125223731del, NC_000006.12:g.125223724_125223731del, NC_000006.12:g.125223725_125223731del, NC_000006.12:g.125223726_125223731del, NC_000006.12:g.125223727_125223731del, NC_000006.12:g.125223728_125223731del, NC_000006.12:g.125223729_125223731del, NC_000006.12:g.125223730_125223731del, NC_000006.12:g.125223731del, NC_000006.12:g.125223731dup, NC_000006.12:g.125223730_125223731dup, NC_000006.12:g.125223729_125223731dup, NC_000006.12:g.125223728_125223731dup, NC_000006.12:g.125223727_125223731dup, NC_000006.12:g.125223726_125223731dup, NC_000006.12:g.125223725_125223731dup, NC_000006.12:g.125223723_125223731dup, NC_000006.12:g.125223722_125223731dup, NC_000006.12:g.125223721_125223731dup, NC_000006.11:g.125544863_125544877del, NC_000006.11:g.125544865_125544877del, NC_000006.11:g.125544866_125544877del, NC_000006.11:g.125544867_125544877del, NC_000006.11:g.125544868_125544877del, NC_000006.11:g.125544869_125544877del, NC_000006.11:g.125544870_125544877del, NC_000006.11:g.125544871_125544877del, NC_000006.11:g.125544872_125544877del, NC_000006.11:g.125544873_125544877del, NC_000006.11:g.125544874_125544877del, NC_000006.11:g.125544875_125544877del, NC_000006.11:g.125544876_125544877del, NC_000006.11:g.125544877del, NC_000006.11:g.125544877dup, NC_000006.11:g.125544876_125544877dup, NC_000006.11:g.125544875_125544877dup, NC_000006.11:g.125544874_125544877dup, NC_000006.11:g.125544873_125544877dup, NC_000006.11:g.125544872_125544877dup, NC_000006.11:g.125544871_125544877dup, NC_000006.11:g.125544869_125544877dup, NC_000006.11:g.125544868_125544877dup, NC_000006.11:g.125544867_125544877dup, NG_029911.1:g.74985_74999del, NG_029911.1:g.74987_74999del, NG_029911.1:g.74988_74999del, NG_029911.1:g.74989_74999del, NG_029911.1:g.74990_74999del, NG_029911.1:g.74991_74999del, NG_029911.1:g.74992_74999del, NG_029911.1:g.74993_74999del, NG_029911.1:g.74994_74999del, NG_029911.1:g.74995_74999del, NG_029911.1:g.74996_74999del, NG_029911.1:g.74997_74999del, NG_029911.1:g.74998_74999del, NG_029911.1:g.74999del, NG_029911.1:g.74999dup, NG_029911.1:g.74998_74999dup, NG_029911.1:g.74997_74999dup, NG_029911.1:g.74996_74999dup, NG_029911.1:g.74995_74999dup, NG_029911.1:g.74994_74999dup, NG_029911.1:g.74993_74999dup, NG_029911.1:g.74991_74999dup, NG_029911.1:g.74990_74999dup, NG_029911.1:g.74989_74999dup

Select item 149151350012.

rs1491513500 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>-,CTCT [Show Flanks]
Chromosome:: 6:125172152 (GRCh38)
6:125493298 (GRCh37)
Canonical SPDI:: NC_000006.12:125172150:TCT:T,NC_000006.12:125172150:TCT:TCTCT
Gene:: TPD52L1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCT=0./0 (ALFA)
HGVS:: NC_000006.12:g.125172152_125172153del, NC_000006.12:g.125172152_125172153dup, NC_000006.11:g.125493298_125493299del, NC_000006.11:g.125493298_125493299dup, NG_029911.1:g.23420_23421del, NG_029911.1:g.23420_23421dup

Select item 149151346513.

rs1491513465 has merged into rs1411239544 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,C [Show Flanks]
Chromosome:: 6:125172099 (GRCh38)
6:125493245 (GRCh37)
Canonical SPDI:: NC_000006.12:125172097:CCC:C,NC_000006.12:125172097:CCC:CC
Gene:: TPD52L1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
-=0.025/1 (GENOME_DK)
-=0.059016/108 (Korea1K)
-=0.071906/43 (NorthernSweden)
-=0.073731/1231 (TOMMO)
-=0.176335/21059 (GnomAD)
HGVS:: NC_000006.12:g.125172099_125172100del, NC_000006.12:g.125172100del, NC_000006.11:g.125493245_125493246del, NC_000006.11:g.125493246del, NG_029911.1:g.23367_23368del, NG_029911.1:g.23368del

Select item 149150017414.

rs1491500174 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C,CC [Show Flanks]
Chromosome:: 6:125172115 (GRCh38)
6:125493262 (GRCh37)
Canonical SPDI:: NC_000006.12:125172115:C:CC,NC_000006.12:125172115:C:CCC
Gene:: TPD52L1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CCC=0./0 (ALFA)
CC=0.00002/1 (GnomAD)
HGVS:: NC_000006.12:g.125172116dup, NC_000006.12:g.125172116_125172117insCC, NC_000006.11:g.125493262dup, NC_000006.11:g.125493262_125493263insCC, NG_029911.1:g.23384dup, NG_029911.1:g.23384_23385insCC

Select item 149146026915.

rs1491460269 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 6:125172132 (GRCh38)
6:125493278 (GRCh37)
Canonical SPDI:: NC_000006.12:125172130:TCT:T
Gene:: TPD52L1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.00001/1 (GnomAD)
HGVS:: NC_000006.12:g.125172132_125172133del, NC_000006.11:g.125493278_125493279del, NG_029911.1:g.23400_23401del

Select item 149144586716.

rs1491445867 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 6:125172101 (GRCh38)
6:125493247 (GRCh37)
Canonical SPDI:: NC_000006.12:125172100:TTT:TT,NC_000006.12:125172100:TTT:TTTT
Gene:: TPD52L1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0.00008/1 (ALFA)
-=0.00004/2 (GnomAD)
-=0.00005/1 (TOMMO)
HGVS:: NC_000006.12:g.125172103del, NC_000006.12:g.125172103dup, NC_000006.11:g.125493249del, NC_000006.11:g.125493249dup, NG_029911.1:g.23371del, NG_029911.1:g.23371dup

Select item 149143923717.

rs1491439237 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 6:125260935 (GRCh38)
6:125582082 (GRCh37)
Canonical SPDI:: NC_000006.12:125260935:G:GG
Gene:: TPD52L1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
HGVS:: NC_000006.12:g.125260936dup, NC_000006.11:g.125582082dup, NG_029911.1:g.112204dup

Select item 149143521218.

rs1491435212 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 6:125172148 (GRCh38)
6:125493294 (GRCh37)
Canonical SPDI:: NC_000006.12:125172146:TCT:T
Gene:: TPD52L1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00008/1 (ALFA)
-=0.00009/6 (GnomAD)
HGVS:: NC_000006.12:g.125172148_125172149del, NC_000006.11:g.125493294_125493295del, NG_029911.1:g.23416_23417del

Select item 149142756119.

rs1491427561 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:125223708 (GRCh38)
6:125544854 (GRCh37)
Canonical SPDI:: NC_000006.12:125223707:CA:
Gene:: TPD52L1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000006.12:g.125223708_125223709del, NC_000006.11:g.125544854_125544855del, NG_029911.1:g.74976_74977del

Select item 149142732120.

rs1491427321 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 6:125172137 (GRCh38)
6:125493284 (GRCh37)
Canonical SPDI:: NC_000006.12:125172137::C
Gene:: TPD52L1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.00059/7 (ALFA)
HGVS:: NC_000006.12:g.125172137_125172138insC, NC_000006.11:g.125493283_125493284insC, NG_029911.1:g.23405_23406insC

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