SNP Links for Gene (Select 400165) - SNP

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 20 of 10713

<< First< Prev

Page of 536

Next >Last >>

Select item 14915631541.

rs1491563154 has merged into rs10630669 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>-,GTGT,GTGTCCATGTGTGTGTAAGGATGTGTGTGT [Show Flanks]
Chromosome:: 13:112665780 (GRCh38)
13:113320094 (GRCh37)
Canonical SPDI:: NC_000013.11:112665774:TGTGTGT:TGTGT,NC_000013.11:112665774:TGTGTGT:TGTGTGTGT,NC_000013.11:112665774:TGTGTGT:TGTGTGTGTCCATGTGTGTGTAAGGATGTGTGTGT
Gene:: ATP11AUN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGT=0.324506/2794 (ALFA)
-=0.000011/3 (TOPMED)
-=0.046397/85 (Korea1K)
-=0.063751/1068 (TOMMO)
-=0.171611/859 (1000Genomes)
-=0.225/135 (NorthernSweden)
-=0.257395/992 (ALSPAC)
-=0.269957/1001 (TWINSUK)
HGVS:: NC_000013.11:g.112665776GT[2], NC_000013.11:g.112665776GT[4], NC_000013.11:g.112665775_112665781TG[4]TCCATGTGTGTGTAAGGATGTGTGTGT[1], NC_000013.10:g.113320090GT[2], NC_000013.10:g.113320090GT[4], NC_000013.10:g.113320089_113320095TG[4]TCCATGTGTGTGTAAGGATGTGTGTGT[1]

Select item 14915404412.

rs1491540441 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTCC [Show Flanks]
Chromosome:: 13:112673185 (GRCh38)
13:113327500 (GRCh37)
Canonical SPDI:: NC_000013.11:112673185:TCC:TCCGTCC
Gene:: ATP11AUN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCCGTCC=0.00253/30 (ALFA)
TCCG=0.0035/305 (GnomAD)
TCCG=0.01224/7 (NorthernSweden)
HGVS:: NC_000013.11:g.112673188_112673189insGTCC, NC_000013.10:g.113327502_113327503insGTCC

Select item 14915344743.

rs1491534474 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 13:112651493 (GRCh38)
13:113305807 (GRCh37)
Canonical SPDI:: NC_000013.11:112651492:AA:
Gene:: ATP11AUN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.0016/7 (ALFA)
HGVS:: NC_000013.11:g.112651493_112651494del, NC_000013.10:g.113305807_113305808del

Select item 14915015864.

rs1491501586 has merged into rs554598261 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGGG>-,G,GG,GGG,GGGGG,GGGGGG,GGGGGGG,GGGGGGGG [Show Flanks]
Chromosome:: 13:112659618 (GRCh38)
13:113313932 (GRCh37)
Canonical SPDI:: NC_000013.11:112659608:GGGGGGGGGGGGG:GGGGGGGGG,NC_000013.11:112659608:GGGGGGGGGGGGG:GGGGGGGGGG,NC_000013.11:112659608:GGGGGGGGGGGGG:GGGGGGGGGGG,NC_000013.11:112659608:GGGGGGGGGGGGG:GGGGGGGGGGGG,NC_000013.11:112659608:GGGGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000013.11:112659608:GGGGGGGGGGGGG:GGGGGGGGGGGGGGG,NC_000013.11:112659608:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGG,NC_000013.11:112659608:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGG
Gene:: ATP11AUN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGGGG=0./0 (ALFA)
-=0.3968/1987 (1000Genomes)
HGVS:: NC_000013.11:g.112659618_112659621del, NC_000013.11:g.112659619_112659621del, NC_000013.11:g.112659620_112659621del, NC_000013.11:g.112659621del, NC_000013.11:g.112659621dup, NC_000013.11:g.112659620_112659621dup, NC_000013.11:g.112659619_112659621dup, NC_000013.11:g.112659618_112659621dup, NC_000013.10:g.113313932_113313935del, NC_000013.10:g.113313933_113313935del, NC_000013.10:g.113313934_113313935del, NC_000013.10:g.113313935del, NC_000013.10:g.113313935dup, NC_000013.10:g.113313934_113313935dup, NC_000013.10:g.113313933_113313935dup, NC_000013.10:g.113313932_113313935dup

Select item 14914921415.

rs1491492141 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTTA [Show Flanks]
Chromosome:: 13:112681662 (GRCh38)
13:113335977 (GRCh37)
Canonical SPDI:: NC_000013.11:112681662::TTTA
Gene:: ATP11AUN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTTA=0.0002/1 (ALFA)
HGVS:: NC_000013.11:g.112681662_112681663insTTTA, NC_000013.10:g.113335976_113335977insTTTA

Select item 14914874706.

rs1491487470 has merged into rs146917816 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTG>-,TG,TGTGTG [Show Flanks]
Chromosome:: 13:112666083 (GRCh38)
13:113320397 (GRCh37)
Canonical SPDI:: NC_000013.11:112666074:TGTGTGTGTGTG:TGTGTGTG,NC_000013.11:112666074:TGTGTGTGTGTG:TGTGTGTGTG,NC_000013.11:112666074:TGTGTGTGTGTG:TGTGTGTGTGTGTG
Gene:: ATP11AUN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTG=0./0 (ALFA)
-=0.06333/38 (NorthernSweden)
HGVS:: NC_000013.11:g.112666075TG[4], NC_000013.11:g.112666075TG[5], NC_000013.11:g.112666075TG[7], NC_000013.10:g.113320389TG[4], NC_000013.10:g.113320389TG[5], NC_000013.10:g.113320389TG[7]

Select item 14914521467.

rs1491452146 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 13:112681662 (GRCh38)
13:113335976 (GRCh37)
Canonical SPDI:: NC_000013.11:112681661:TG:
Gene:: ATP11AUN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.026893/319 (ALFA)
-=0.00248/266 (GnomAD)
-=0.003894/110 (TOMMO)
-=0.008215/15 (Korea1K)
HGVS:: NC_000013.11:g.112681662_112681663del, NC_000013.10:g.113335976_113335977del

Select item 14914061288.

rs1491406128 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGTGTGTGGGAGTGTGTAAGGCTGTGTGTGTCCGTG [Show Flanks]
Chromosome:: 13:112666075 (GRCh38)
13:113320390 (GRCh37)
Canonical SPDI:: NC_000013.11:112666075:GTG:GTGAGTGTGTGGGAGTGTGTAAGGCTGTGTGTGTCCGTG
Gene:: ATP11AUN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: GTGAGTGTGTGGGAGTGTGTAAGGCTGTGTGTGTCC=0.000009/1 (GnomAD)
HGVS:: NC_000013.11:g.112666078_112666079insAGTGTGTGGGAGTGTGTAAGGCTGTGTGTGTCCGTG, NC_000013.10:g.113320392_113320393insAGTGTGTGGGAGTGTGTAAGGCTGTGTGTGTCCGTG

Select item 14913803349.

rs1491380334 [Homo sapiens]

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

Select item 149135136010.

rs1491351360 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 13:112665945 (GRCh38)
13:113320259 (GRCh37)
Canonical SPDI:: NC_000013.11:112665944:AT:
Gene:: ATP11AUN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000103/14 (GnomAD)
HGVS:: NC_000013.11:g.112665945_112665946del, NC_000013.10:g.113320259_113320260del

Select item 149135086711.

rs1491350867 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AC,ACAC,ACACAC,ACACACAC [Show Flanks]
Chromosome:: 13:112657269 (GRCh38)
13:113311584 (GRCh37)
Canonical SPDI:: NC_000013.11:112657269:C:CAC,NC_000013.11:112657269:C:CACAC,NC_000013.11:112657269:C:CACACAC,NC_000013.11:112657269:C:CACACACAC
Gene:: ATP11AUN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACAC=0./0 (ALFA)
CA=0.00018/3 (TOMMO)
HGVS:: NC_000013.11:g.112657270_112657271insAC, NC_000013.11:g.112657270_112657271insACAC, NC_000013.11:g.112657271AC[3], NC_000013.11:g.112657271AC[4], NC_000013.10:g.113311584_113311585insAC, NC_000013.10:g.113311584_113311585insACAC, NC_000013.10:g.113311585AC[3], NC_000013.10:g.113311585AC[4]

Select item 149128023012.

rs1491280230 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTCCTTCC [Show Flanks]
Chromosome:: 13:112673181 (GRCh38)
13:113327496 (GRCh37)
Canonical SPDI:: NC_000013.11:112673181:TCCTTCC:TCCTTCCCTCCTTCC
Gene:: ATP11AUN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TCCTTCCCTCCTTCC=0.00008/1 (ALFA)
TCCTTCCC=0.00013/12 (GnomAD)
HGVS:: NC_000013.11:g.112673188_112673189insCTCCTTCC, NC_000013.10:g.113327502_113327503insCTCCTTCC

Select item 149127709513.

rs1491277095 [Homo sapiens]

Variant type:: INS
Alleles:: ->AG,TG,TGTGTGTGTGTGGGAGTGTGTAAGG [Show Flanks]
Chromosome:: 13:112666296 (GRCh38)
13:113320611 (GRCh37)
Canonical SPDI:: NC_000013.11:112666296::AG,NC_000013.11:112666296::TG,NC_000013.11:112666296::TGTGTGTGTGTGGGAGTGTGTAAGG
Gene:: ATP11AUN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TG=0./0 (ALFA)
TG=0.00149/24 (TOMMO)
HGVS:: NC_000013.11:g.112666296_112666297insAG, NC_000013.11:g.112666296_112666297insTG, NC_000013.11:g.112666296_112666297insTGTGTGTGTGTGGGAGTGTGTAAGG, NC_000013.10:g.113320610_113320611insAG, NC_000013.10:g.113320610_113320611insTG, NC_000013.10:g.113320610_113320611insTGTGTGTGTGTGGGAGTGTGTAAGG

Select item 149124067614.

rs1491240676 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 13:112666322 (GRCh38)
13:113320636 (GRCh37)
Canonical SPDI:: NC_000013.11:112666321:AT:
Gene:: ATP11AUN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00001/1 (GnomAD)
HGVS:: NC_000013.11:g.112666322_112666323del, NC_000013.10:g.113320636_113320637del

Select item 149122765715.

rs1491227657 [Homo sapiens]

Variant type:: DEL
Alleles:: CG>- [Show Flanks]
Chromosome:: 13:112645300 (GRCh38)
13:113299614 (GRCh37)
Canonical SPDI:: NC_000013.11:112645299:CG:
Gene:: ATP11AUN (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000015/2 (GnomAD)
HGVS:: NC_000013.11:g.112645300_112645301del, NC_000013.10:g.113299614_113299615del

Select item 149121140316.

rs1491211403 [Homo sapiens]

Variant type:: INS
Alleles:: ->ACA,ACACAT,ACAT,AT [Show Flanks]
Chromosome:: 13:112645300 (GRCh38)
13:113299615 (GRCh37)
Canonical SPDI:: NC_000013.11:112645300::ACA,NC_000013.11:112645300::ACACAT,NC_000013.11:112645300::ACAT,NC_000013.11:112645300::AT
Gene:: ATP11AUN (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACAT=0./0 (ALFA)
HGVS:: NC_000013.11:g.112645300_112645301insACA, NC_000013.11:g.112645300_112645301insACACAT, NC_000013.11:g.112645300_112645301insACAT, NC_000013.11:g.112645300_112645301insAT, NC_000013.10:g.113299614_113299615insACA, NC_000013.10:g.113299614_113299615insACACAT, NC_000013.10:g.113299614_113299615insACAT, NC_000013.10:g.113299614_113299615insAT

Select item 149119684717.

rs1491196847 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 13:112666296 (GRCh38)
13:113320610 (GRCh37)
Canonical SPDI:: NC_000013.11:112666295:CC:
Gene:: ATP11AUN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.112666296_112666297del, NC_000013.10:g.113320610_113320611del

Select item 149119499418.

rs1491194994 has merged into rs142927757 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGT>-,GT,GTGTGT [Show Flanks]
Chromosome:: 13:112666330 (GRCh38)
13:113320644 (GRCh37)
Canonical SPDI:: NC_000013.11:112666322:TGTGTGTGTGT:TGTGTGT,NC_000013.11:112666322:TGTGTGTGTGT:TGTGTGTGT,NC_000013.11:112666322:TGTGTGTGTGT:TGTGTGTGTGTGT
Gene:: ATP11AUN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGT=0.00025/4 (ALFA)
-=0.00167/1 (NorthernSweden)
-=0.00285/11 (ALSPAC)
-=0.00657/12 (Korea1K)
-=0.01283/64 (1000Genomes)
-=0.01792/299 (TOMMO)
HGVS:: NC_000013.11:g.112666324GT[3], NC_000013.11:g.112666324GT[4], NC_000013.11:g.112666324GT[6], NC_000013.10:g.113320638GT[3], NC_000013.10:g.113320638GT[4], NC_000013.10:g.113320638GT[6]

Select item 149118632019.

rs1491186320 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 13:112648606 (GRCh38)
13:113302920 (GRCh37)
Canonical SPDI:: NC_000013.11:112648605:TG:
Gene:: ATP11AUN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00413/49 (ALFA)
-=0.00064/56 (GnomAD)
HGVS:: NC_000013.11:g.112648606_112648607del, NC_000013.10:g.113302920_113302921del

Select item 149118324320.

rs1491183243 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 13:112673181 (GRCh38)
13:113327495 (GRCh37)
Canonical SPDI:: NC_000013.11:112673180:TT:
Gene:: ATP11AUN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.00011/2 (TOMMO)
-=0.00024/22 (GnomAD)
HGVS:: NC_000013.11:g.112673181_112673182del, NC_000013.10:g.113327495_113327496del

<< First< Prev

Page of 536

Next >Last >>

Supplemental Content

Filters: Manage Filters

Find related data

Recent activity

Clear Turn Off Turn On

SNP Links for Gene (Select 400165) (10713)
SNP

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

dbSNP

Result Filters

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to: