SNP Links for Gene (Select 222255) - SNP

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Select item 14915893381.

rs1491589338 has merged into rs756390237 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 7:105765327 (GRCh38)
7:105405773 (GRCh37)
Canonical SPDI:: NC_000007.14:105765315:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:105765315:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:105765315:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:105765315:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:105765315:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:105765315:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
Gene:: ATXN7L1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
A=0.25/10 (GENOME_DK)
HGVS:: NC_000007.14:g.105765327_105765329del, NC_000007.14:g.105765328_105765329del, NC_000007.14:g.105765329del, NC_000007.14:g.105765329dup, NC_000007.14:g.105765328_105765329dup, NC_000007.14:g.105765327_105765329dup, NC_000007.13:g.105405773_105405775del, NC_000007.13:g.105405774_105405775del, NC_000007.13:g.105405775del, NC_000007.13:g.105405775dup, NC_000007.13:g.105405774_105405775dup, NC_000007.13:g.105405773_105405775dup

Select item 14915788962.

rs1491578896 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 7:105605067 (GRCh38)
7:105245514 (GRCh37)
Canonical SPDI:: NC_000007.14:105605065:TAT:T
Gene:: ATXN7L1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000253/3 (ALFA)
-=0.000083/11 (GnomAD)
HGVS:: NC_000007.14:g.105605067_105605068del, NC_000007.13:g.105245514_105245515del, NM_020725.2:c.*2785_*2786del, NM_020725.1:c.*2785_*2786del, NM_138495.2:c.*2785_*2786del, NM_138495.1:c.*2785_*2786del, NM_001385596.1:c.*2785_*2786del

Select item 14915760543.

rs1491576054 [Homo sapiens]

Variant type:: DEL
Alleles:: AC>- [Show Flanks]
Chromosome:: 7:105776493 (GRCh38)
7:105416939 (GRCh37)
Canonical SPDI:: NC_000007.14:105776492:AC:
Gene:: ATXN7L1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.105776493_105776494del, NC_000007.13:g.105416939_105416940del

Select item 14915720964.

rs1491572096 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATGTGT [Show Flanks]
Chromosome:: 7:105759450 (GRCh38)
7:105399897 (GRCh37)
Canonical SPDI:: NC_000007.14:105759450:TGTGT:TGTGTATGTGT
Gene:: ATXN7L1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TGTGTATGTGT=0./0 (ALFA)
HGVS:: NC_000007.14:g.105759451_105759455TG[2]TATGTGT[1], NC_000007.13:g.105399897_105399901TG[2]TATGTGT[1]

Select item 14915711095.

rs1491571109 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 7:105874122 (GRCh38)
7:105514569 (GRCh37)
Canonical SPDI:: NC_000007.14:105874122:C:CC
Gene:: ATXN7L1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
C=0.00007/4 (GnomAD)
HGVS:: NC_000007.14:g.105874123dup, NC_000007.13:g.105514569dup

Select item 14915703476.

rs1491570347 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 7:105845204 (GRCh38)
7:105485650 (GRCh37)
Canonical SPDI:: NC_000007.14:105845203:CA:
Gene:: ATXN7L1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000007.14:g.105845204_105845205del, NC_000007.13:g.105485650_105485651del

Select item 14915685577.

rs1491568557 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AA [Show Flanks]
Chromosome:: 7:105795571 (GRCh38)
7:105436018 (GRCh37)
Canonical SPDI:: NC_000007.14:105795571:A:AAA
Gene:: ATXN7L1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
AA=0.000004/1 (TOPMED)
AA=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.105795572_105795573insAA, NC_000007.13:g.105436018_105436019insAA

Select item 14915664788.

rs1491566478 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 7:105835148 (GRCh38)
7:105475594 (GRCh37)
Canonical SPDI:: NC_000007.14:105835147:GG:
Gene:: ATXN7L1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00018/3 (TOMMO)
-=0.00068/63 (GnomAD)
HGVS:: NC_000007.14:g.105835148_105835149del, NC_000007.13:g.105475594_105475595del

Select item 14915377809.

rs1491537780 [Homo sapiens]

Variant type:: INS
Alleles:: ->GGGT,GGT,GT [Show Flanks]
Chromosome:: 7:105605486 (GRCh38)
7:105245934 (GRCh37)
Canonical SPDI:: NC_000007.14:105605486::GGGT,NC_000007.14:105605486::GGT,NC_000007.14:105605486::GT
Gene:: ATXN7L1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGT=0./0 (ALFA)
HGVS:: NC_000007.14:g.105605486_105605487insGGGT, NC_000007.14:g.105605486_105605487insGGT, NC_000007.14:g.105605486_105605487insGT, NC_000007.13:g.105245933_105245934insGGGT, NC_000007.13:g.105245933_105245934insGGT, NC_000007.13:g.105245933_105245934insGT, NM_020725.2:c.*2365_*2366insACCC, NM_020725.2:c.*2365_*2366insACC, NM_020725.2:c.*2365_*2366insAC, NM_020725.1:c.*2365_*2366insACCC, NM_020725.1:c.*2365_*2366insACC, NM_020725.1:c.*2365_*2366insAC, NM_138495.2:c.*2365_*2366insACCC, NM_138495.2:c.*2365_*2366insACC, NM_138495.2:c.*2365_*2366insAC, NM_138495.1:c.*2365_*2366insACCC, NM_138495.1:c.*2365_*2366insACC, NM_138495.1:c.*2365_*2366insAC, NM_001385596.1:c.*2365_*2366insACCC, NM_001385596.1:c.*2365_*2366insACC, NM_001385596.1:c.*2365_*2366insAC

Select item 149153558810.

rs1491535588 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 7:105835149 (GRCh38)
7:105475595 (GRCh37)
Canonical SPDI:: NC_000007.14:105835148:GT:
Gene:: ATXN7L1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00008/1 (ALFA)
-=0.00005/4 (GnomAD)
HGVS:: NC_000007.14:g.105835149_105835150del, NC_000007.13:g.105475595_105475596del

Select item 149151326311.

rs1491513263 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 7:105664498 (GRCh38)
7:105304945 (GRCh37)
Canonical SPDI:: NC_000007.14:105664497:AA:
Gene:: ATXN7L1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: -=0.00001/1 (GnomAD)
HGVS:: NC_000007.14:g.105664498_105664499del, NC_000007.13:g.105304945_105304946del

Select item 149150461112.

rs1491504611 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 7:105636456 (GRCh38)
7:105276903 (GRCh37)
Canonical SPDI:: NC_000007.14:105636454:CAC:C
Gene:: ATXN7L1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000306/5 (ALFA)
-=0.000223/1 (Estonian)
-=0.000346/48 (GnomAD)
HGVS:: NC_000007.14:g.105636456_105636457del, NC_000007.13:g.105276903_105276904del

Select item 149150120113.

rs1491501201 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,CC,CCC [Show Flanks]
Chromosome:: 7:105776492 (GRCh38)
7:105416939 (GRCh37)
Canonical SPDI:: NC_000007.14:105776492::C,NC_000007.14:105776492::CC,NC_000007.14:105776492::CCC
Gene:: ATXN7L1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
HGVS:: NC_000007.14:g.105776492_105776493insC, NC_000007.14:g.105776492_105776493insCC, NC_000007.14:g.105776492_105776493insCCC, NC_000007.13:g.105416938_105416939insC, NC_000007.13:g.105416938_105416939insCC, NC_000007.13:g.105416938_105416939insCCC

Select item 149148842314.

rs1491488423 has merged into rs10566200 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 7:105748128 (GRCh38)
7:105388574 (GRCh37)
Canonical SPDI:: NC_000007.14:105748116:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:105748116:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:105748116:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:105748116:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:105748116:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:105748116:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:105748116:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:105748116:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:105748116:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: ATXN7L1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.1622/625 (ALSPAC)
HGVS:: NC_000007.14:g.105748128_105748134del, NC_000007.14:g.105748129_105748134del, NC_000007.14:g.105748130_105748134del, NC_000007.14:g.105748131_105748134del, NC_000007.14:g.105748132_105748134del, NC_000007.14:g.105748133_105748134del, NC_000007.14:g.105748134del, NC_000007.14:g.105748134dup, NC_000007.14:g.105748132_105748134dup, NC_000007.13:g.105388574_105388580del, NC_000007.13:g.105388575_105388580del, NC_000007.13:g.105388576_105388580del, NC_000007.13:g.105388577_105388580del, NC_000007.13:g.105388578_105388580del, NC_000007.13:g.105388579_105388580del, NC_000007.13:g.105388580del, NC_000007.13:g.105388580dup, NC_000007.13:g.105388578_105388580dup

Select item 149147420515.

rs1491474205 has merged into rs1186998293 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAA>-,A,AAAA,AAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAACAACTCTACTAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 7:105700518 (GRCh38)
7:105340965 (GRCh37)
Canonical SPDI:: NC_000007.14:105700508:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000007.14:105700508:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000007.14:105700508:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:105700508:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:105700508:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:105700508:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:105700508:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:105700508:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:105700508:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:105700508:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:105700508:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:105700508:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:105700508:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:105700508:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:105700508:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:105700508:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:105700508:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:105700508:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:105700508:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:105700508:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:105700508:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:105700508:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:105700508:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAACTCTACTAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ATXN7L1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000007.14:g.105700518_105700533del, NC_000007.14:g.105700519_105700533del, NC_000007.14:g.105700522_105700533del, NC_000007.14:g.105700525_105700533del, NC_000007.14:g.105700529_105700533del, NC_000007.14:g.105700531_105700533del, NC_000007.14:g.105700532_105700533del, NC_000007.14:g.105700533del, NC_000007.14:g.105700533dup, NC_000007.14:g.105700532_105700533dup, NC_000007.14:g.105700531_105700533dup, NC_000007.14:g.105700530_105700533dup, NC_000007.14:g.105700529_105700533dup, NC_000007.14:g.105700528_105700533dup, NC_000007.14:g.105700527_105700533dup, NC_000007.14:g.105700526_105700533dup, NC_000007.14:g.105700524_105700533dup, NC_000007.14:g.105700516_105700533dup, NC_000007.14:g.105700533_105700534insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.105700533_105700534insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.105700533_105700534insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.105700533_105700534insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.105700509_105700533A[33]CAACTCTACTAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.13:g.105340965_105340980del, NC_000007.13:g.105340966_105340980del, NC_000007.13:g.105340969_105340980del, NC_000007.13:g.105340972_105340980del, NC_000007.13:g.105340976_105340980del, NC_000007.13:g.105340978_105340980del, NC_000007.13:g.105340979_105340980del, NC_000007.13:g.105340980del, NC_000007.13:g.105340980dup, NC_000007.13:g.105340979_105340980dup, NC_000007.13:g.105340978_105340980dup, NC_000007.13:g.105340977_105340980dup, NC_000007.13:g.105340976_105340980dup, NC_000007.13:g.105340975_105340980dup, NC_000007.13:g.105340974_105340980dup, NC_000007.13:g.105340973_105340980dup, NC_000007.13:g.105340971_105340980dup, NC_000007.13:g.105340963_105340980dup, NC_000007.13:g.105340980_105340981insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.105340980_105340981insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.105340980_105340981insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.105340980_105340981insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.105340956_105340980A[33]CAACTCTACTAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 149145709016.

rs1491457090 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 7:105700508 (GRCh38)
7:105340955 (GRCh37)
Canonical SPDI:: NC_000007.14:105700507:CA:
Gene:: ATXN7L1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000007.14:g.105700508_105700509del, NC_000007.13:g.105340955_105340956del

Select item 149143768017.

rs1491437680 has merged into rs1191774371 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:105619151 (GRCh38)
7:105259598 (GRCh37)
Canonical SPDI:: NC_000007.14:105619140:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:105619140:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:105619140:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:105619140:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:105619140:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:105619140:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:105619140:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:105619140:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:105619140:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:105619140:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:105619140:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:105619140:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105619140:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105619140:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105619140:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105619140:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105619140:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105619140:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105619140:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105619140:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105619140:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105619140:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105619140:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105619140:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105619140:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105619140:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105619140:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105619140:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105619140:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105619140:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105619140:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105619140:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105619140:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105619140:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105619140:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105619140:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105619140:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105619140:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105619140:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105619140:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105619140:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105619140:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105619140:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ATXN7L1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.105619151_105619165del, NC_000007.14:g.105619152_105619165del, NC_000007.14:g.105619153_105619165del, NC_000007.14:g.105619154_105619165del, NC_000007.14:g.105619155_105619165del, NC_000007.14:g.105619156_105619165del, NC_000007.14:g.105619157_105619165del, NC_000007.14:g.105619158_105619165del, NC_000007.14:g.105619159_105619165del, NC_000007.14:g.105619160_105619165del, NC_000007.14:g.105619161_105619165del, NC_000007.14:g.105619162_105619165del, NC_000007.14:g.105619163_105619165del, NC_000007.14:g.105619164_105619165del, NC_000007.14:g.105619165del, NC_000007.14:g.105619165dup, NC_000007.14:g.105619164_105619165dup, NC_000007.14:g.105619163_105619165dup, NC_000007.14:g.105619162_105619165dup, NC_000007.14:g.105619161_105619165dup, NC_000007.14:g.105619160_105619165dup, NC_000007.14:g.105619159_105619165dup, NC_000007.14:g.105619158_105619165dup, NC_000007.14:g.105619157_105619165dup, NC_000007.14:g.105619156_105619165dup, NC_000007.14:g.105619155_105619165dup, NC_000007.14:g.105619154_105619165dup, NC_000007.14:g.105619153_105619165dup, NC_000007.14:g.105619152_105619165dup, NC_000007.14:g.105619151_105619165dup, NC_000007.14:g.105619149_105619165dup, NC_000007.14:g.105619148_105619165dup, NC_000007.14:g.105619147_105619165dup, NC_000007.14:g.105619146_105619165dup, NC_000007.14:g.105619143_105619165dup, NC_000007.14:g.105619142_105619165dup, NC_000007.14:g.105619141_105619165dup, NC_000007.14:g.105619165_105619166insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.105619165_105619166insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.105619165_105619166insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.105619165_105619166insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.105619165_105619166insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.105619165_105619166insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.105259598_105259612del, NC_000007.13:g.105259599_105259612del, NC_000007.13:g.105259600_105259612del, NC_000007.13:g.105259601_105259612del, NC_000007.13:g.105259602_105259612del, NC_000007.13:g.105259603_105259612del, NC_000007.13:g.105259604_105259612del, NC_000007.13:g.105259605_105259612del, NC_000007.13:g.105259606_105259612del, NC_000007.13:g.105259607_105259612del, NC_000007.13:g.105259608_105259612del, NC_000007.13:g.105259609_105259612del, NC_000007.13:g.105259610_105259612del, NC_000007.13:g.105259611_105259612del, NC_000007.13:g.105259612del, NC_000007.13:g.105259612dup, NC_000007.13:g.105259611_105259612dup, NC_000007.13:g.105259610_105259612dup, NC_000007.13:g.105259609_105259612dup, NC_000007.13:g.105259608_105259612dup, NC_000007.13:g.105259607_105259612dup, NC_000007.13:g.105259606_105259612dup, NC_000007.13:g.105259605_105259612dup, NC_000007.13:g.105259604_105259612dup, NC_000007.13:g.105259603_105259612dup, NC_000007.13:g.105259602_105259612dup, NC_000007.13:g.105259601_105259612dup, NC_000007.13:g.105259600_105259612dup, NC_000007.13:g.105259599_105259612dup, NC_000007.13:g.105259598_105259612dup, NC_000007.13:g.105259596_105259612dup, NC_000007.13:g.105259595_105259612dup, NC_000007.13:g.105259594_105259612dup, NC_000007.13:g.105259593_105259612dup, NC_000007.13:g.105259590_105259612dup, NC_000007.13:g.105259589_105259612dup, NC_000007.13:g.105259588_105259612dup, NC_000007.13:g.105259612_105259613insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.105259612_105259613insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.105259612_105259613insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.105259612_105259613insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.105259612_105259613insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.105259612_105259613insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149143698718.

rs1491436987 has merged into rs11329205 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:105704597 (GRCh38)
7:105345043 (GRCh37)
Canonical SPDI:: NC_000007.14:105704584:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:105704584:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:105704584:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:105704584:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:105704584:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:105704584:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:105704584:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:105704584:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:105704584:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:105704584:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105704584:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105704584:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105704584:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105704584:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105704584:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105704584:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105704584:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105704584:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105704584:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105704584:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105704584:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105704584:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ATXN7L1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.375/15 (GENOME_DK)
HGVS:: NC_000007.14:g.105704597_105704612del, NC_000007.14:g.105704598_105704612del, NC_000007.14:g.105704599_105704612del, NC_000007.14:g.105704600_105704612del, NC_000007.14:g.105704601_105704612del, NC_000007.14:g.105704602_105704612del, NC_000007.14:g.105704603_105704612del, NC_000007.14:g.105704604_105704612del, NC_000007.14:g.105704605_105704612del, NC_000007.14:g.105704606_105704612del, NC_000007.14:g.105704607_105704612del, NC_000007.14:g.105704608_105704612del, NC_000007.14:g.105704609_105704612del, NC_000007.14:g.105704610_105704612del, NC_000007.14:g.105704611_105704612del, NC_000007.14:g.105704612del, NC_000007.14:g.105704612dup, NC_000007.14:g.105704611_105704612dup, NC_000007.14:g.105704610_105704612dup, NC_000007.14:g.105704609_105704612dup, NC_000007.14:g.105704608_105704612dup, NC_000007.14:g.105704605_105704612dup, NC_000007.13:g.105345043_105345058del, NC_000007.13:g.105345044_105345058del, NC_000007.13:g.105345045_105345058del, NC_000007.13:g.105345046_105345058del, NC_000007.13:g.105345047_105345058del, NC_000007.13:g.105345048_105345058del, NC_000007.13:g.105345049_105345058del, NC_000007.13:g.105345050_105345058del, NC_000007.13:g.105345051_105345058del, NC_000007.13:g.105345052_105345058del, NC_000007.13:g.105345053_105345058del, NC_000007.13:g.105345054_105345058del, NC_000007.13:g.105345055_105345058del, NC_000007.13:g.105345056_105345058del, NC_000007.13:g.105345057_105345058del, NC_000007.13:g.105345058del, NC_000007.13:g.105345058dup, NC_000007.13:g.105345057_105345058dup, NC_000007.13:g.105345056_105345058dup, NC_000007.13:g.105345055_105345058dup, NC_000007.13:g.105345054_105345058dup, NC_000007.13:g.105345051_105345058dup

Select item 149143124419.

rs1491431244 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 7:105671282 (GRCh38)
7:105311730 (GRCh37)
Canonical SPDI:: NC_000007.14:105671282::G
Gene:: ATXN7L1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.00004/1 (TOMMO)
HGVS:: NC_000007.14:g.105671282_105671283insG, NC_000007.13:g.105311729_105311730insG

Select item 149142505020.

rs1491425050 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 7:105874122 (GRCh38)
7:105514568 (GRCh37)
Canonical SPDI:: NC_000007.14:105874121:TC:
Gene:: ATXN7L1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: -=0.000017/2 (GnomAD)
HGVS:: NC_000007.14:g.105874122_105874123del, NC_000007.13:g.105514568_105514569del

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