SNP Links for Gene (Select 127002) - SNP

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Select item 14915630351.

rs1491563035 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CGGCGGGGGGGGCGGGGGGG,CGGGGGGG,TGGGGGGG [Show Flanks]
Chromosome:: 1:109482862 (GRCh38)
1:110025485 (GRCh37)
Canonical SPDI:: NC_000001.11:109482862:GGGGGGG:GGGGGGGCGGCGGGGGGGGCGGGGGGG,NC_000001.11:109482862:GGGGGGG:GGGGGGGCGGGGGGG,NC_000001.11:109482862:GGGGGGG:GGGGGGGTGGGGGGG
Gene:: ATXN7L2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGTGGGGGGG=0./0 (ALFA)
GGGGGGGCGGCGGGGGGGGC=0.00006/5 (GnomAD)
GGGGGGGC=0.24468/3310 (TOMMO)
GGGGGGGC=0.24805/1084 (Estonian)
GGGGGGGC=0.30572/524 (Korea1K)
HGVS:: NC_000001.11:g.109482863_109482869G[7]CGG[2]G[6]CGGGGGGG[1], NC_000001.11:g.109482863_109482869G[7]CGGGGGGG[1], NC_000001.11:g.109482863_109482869G[7]TGGGGGGG[1], NC_000001.10:g.110025485_110025491G[7]CGG[2]G[6]CGGGGGGG[1], NC_000001.10:g.110025485_110025491G[7]CGGGGGGG[1], NC_000001.10:g.110025485_110025491G[7]TGGGGGGG[1]

Select item 14914790212.

rs1491479021 has merged into rs1193696054 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGGGGGGGG>-,GGGGG,GGGGGG,GGGGGGG,GGGGGGGG,GGGGGGGGGG,GGGGGGGGGGG,GGGGGGGGGGGG,GGGGGGGGGGGGG,GGGGGGGGGGGGGG,GGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG [Show Flanks]
Chromosome:: 1:109483798 (GRCh38)
1:110026420 (GRCh37)
Canonical SPDI:: NC_000001.11:109483792:GGGGGGGGGGGGGG:GGGGG,NC_000001.11:109483792:GGGGGGGGGGGGGG:GGGGGGGGGG,NC_000001.11:109483792:GGGGGGGGGGGGGG:GGGGGGGGGGG,NC_000001.11:109483792:GGGGGGGGGGGGGG:GGGGGGGGGGGG,NC_000001.11:109483792:GGGGGGGGGGGGGG:GGGGGGGGGGGGG,NC_000001.11:109483792:GGGGGGGGGGGGGG:GGGGGGGGGGGGGGG,NC_000001.11:109483792:GGGGGGGGGGGGGG:GGGGGGGGGGGGGGGG,NC_000001.11:109483792:GGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGG,NC_000001.11:109483792:GGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGG,NC_000001.11:109483792:GGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGG,NC_000001.11:109483792:GGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGG,NC_000001.11:109483792:GGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGG,NC_000001.11:109483792:GGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGG,NC_000001.11:109483792:GGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGG,NC_000001.11:109483792:GGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGG,NC_000001.11:109483792:GGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGG,NC_000001.11:109483792:GGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000001.11:109483792:GGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000001.11:109483792:GGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000001.11:109483792:GGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000001.11:109483792:GGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000001.11:109483792:GGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000001.11:109483792:GGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
Gene:: ATXN7L2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGGG=0./0 (ALFA)
HGVS:: NC_000001.11:g.109483798_109483806del, NC_000001.11:g.109483803_109483806del, NC_000001.11:g.109483804_109483806del, NC_000001.11:g.109483805_109483806del, NC_000001.11:g.109483806del, NC_000001.11:g.109483806dup, NC_000001.11:g.109483805_109483806dup, NC_000001.11:g.109483804_109483806dup, NC_000001.11:g.109483803_109483806dup, NC_000001.11:g.109483802_109483806dup, NC_000001.11:g.109483801_109483806dup, NC_000001.11:g.109483800_109483806dup, NC_000001.11:g.109483799_109483806dup, NC_000001.11:g.109483798_109483806dup, NC_000001.11:g.109483797_109483806dup, NC_000001.11:g.109483796_109483806dup, NC_000001.11:g.109483795_109483806dup, NC_000001.11:g.109483794_109483806dup, NC_000001.11:g.109483793_109483806dup, NC_000001.11:g.109483806_109483807insGGGGGGGGGGGGGGGG, NC_000001.11:g.109483806_109483807insGGGGGGGGGGGGGGGGGGG, NC_000001.11:g.109483806_109483807insGGGGGGGGGGGGGGGGGGGGG, NC_000001.11:g.109483806_109483807insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NC_000001.10:g.110026420_110026428del, NC_000001.10:g.110026425_110026428del, NC_000001.10:g.110026426_110026428del, NC_000001.10:g.110026427_110026428del, NC_000001.10:g.110026428del, NC_000001.10:g.110026428dup, NC_000001.10:g.110026427_110026428dup, NC_000001.10:g.110026426_110026428dup, NC_000001.10:g.110026425_110026428dup, NC_000001.10:g.110026424_110026428dup, NC_000001.10:g.110026423_110026428dup, NC_000001.10:g.110026422_110026428dup, NC_000001.10:g.110026421_110026428dup, NC_000001.10:g.110026420_110026428dup, NC_000001.10:g.110026419_110026428dup, NC_000001.10:g.110026418_110026428dup, NC_000001.10:g.110026417_110026428dup, NC_000001.10:g.110026416_110026428dup, NC_000001.10:g.110026415_110026428dup, NC_000001.10:g.110026428_110026429insGGGGGGGGGGGGGGGG, NC_000001.10:g.110026428_110026429insGGGGGGGGGGGGGGGGGGG, NC_000001.10:g.110026428_110026429insGGGGGGGGGGGGGGGGGGGGG, NC_000001.10:g.110026428_110026429insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG

Select item 14913435143.

rs1491343514 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGG [Show Flanks]
Chromosome:: 1:109483793 (GRCh38)
1:110026416 (GRCh37)
Canonical SPDI:: NC_000001.11:109483793:GG:GGTGG
Gene:: ATXN7L2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: GGTGG=0.00008/1 (ALFA)
HGVS:: NC_000001.11:g.109483795_109483796insTGG, NC_000001.10:g.110026417_110026418insTGG

Select item 14912678104.

rs1491267810 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 1:109483791 (GRCh38)
1:110026414 (GRCh37)
Canonical SPDI:: NC_000001.11:109483791:T:TT
Gene:: ATXN7L2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.00004/4 (GnomAD)
HGVS:: NC_000001.11:g.109483792dup, NC_000001.10:g.110026414dup

Select item 14912515555.

rs1491251555 has merged into rs147891704 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGG>-,G,GG,GGGG,GGGGCGGGGGGGGGGG,GGGGG,GGGGGGGGGG,GGGGGGGGGGG,GGGGGGGGGGGG,GGGGGGGGGGGGG,GGGGGGGGGGGGGG,GGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGGGG [Show Flanks]
Chromosome:: 1:109482869 (GRCh38)
1:110025491 (GRCh37)
Canonical SPDI:: NC_000001.11:109482861:GGGGGGGGGG:GGGGGGG,NC_000001.11:109482861:GGGGGGGGGG:GGGGGGGG,NC_000001.11:109482861:GGGGGGGGGG:GGGGGGGGG,NC_000001.11:109482861:GGGGGGGGGG:GGGGGGGGGGG,NC_000001.11:109482861:GGGGGGGGGG:GGGGGGGGGGGCGGGGGGGGGGG,NC_000001.11:109482861:GGGGGGGGGG:GGGGGGGGGGGG,NC_000001.11:109482861:GGGGGGGGGG:GGGGGGGGGGGGGGGGG,NC_000001.11:109482861:GGGGGGGGGG:GGGGGGGGGGGGGGGGGG,NC_000001.11:109482861:GGGGGGGGGG:GGGGGGGGGGGGGGGGGGG,NC_000001.11:109482861:GGGGGGGGGG:GGGGGGGGGGGGGGGGGGGG,NC_000001.11:109482861:GGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGG,NC_000001.11:109482861:GGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGG,NC_000001.11:109482861:GGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGG,NC_000001.11:109482861:GGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGG,NC_000001.11:109482861:GGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000001.11:109482861:GGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
Gene:: ATXN7L2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGG=0./0 (ALFA)
-=0.00426/7 (Korea1K)
-=0.0068/87 (TOMMO)
HGVS:: NC_000001.11:g.109482869_109482871del, NC_000001.11:g.109482870_109482871del, NC_000001.11:g.109482871del, NC_000001.11:g.109482871dup, NC_000001.11:g.109482862_109482871G[11]CGGGGGGGGGGG[1], NC_000001.11:g.109482870_109482871dup, NC_000001.11:g.109482865_109482871dup, NC_000001.11:g.109482864_109482871dup, NC_000001.11:g.109482863_109482871dup, NC_000001.11:g.109482862_109482871dup, NC_000001.11:g.109482871_109482872insGGGGGGGGGGG, NC_000001.11:g.109482871_109482872insGGGGGGGGGGGG, NC_000001.11:g.109482871_109482872insGGGGGGGGGGGGG, NC_000001.11:g.109482871_109482872insGGGGGGGGGGGGGG, NC_000001.11:g.109482871_109482872insGGGGGGGGGGGGGGGG, NC_000001.11:g.109482871_109482872insGGGGGGGGGGGGGGGGGGGGG, NC_000001.10:g.110025491_110025493del, NC_000001.10:g.110025492_110025493del, NC_000001.10:g.110025493del, NC_000001.10:g.110025493dup, NC_000001.10:g.110025484_110025493G[11]CGGGGGGGGGGG[1], NC_000001.10:g.110025492_110025493dup, NC_000001.10:g.110025487_110025493dup, NC_000001.10:g.110025486_110025493dup, NC_000001.10:g.110025485_110025493dup, NC_000001.10:g.110025484_110025493dup, NC_000001.10:g.110025493_110025494insGGGGGGGGGGG, NC_000001.10:g.110025493_110025494insGGGGGGGGGGGG, NC_000001.10:g.110025493_110025494insGGGGGGGGGGGGG, NC_000001.10:g.110025493_110025494insGGGGGGGGGGGGGG, NC_000001.10:g.110025493_110025494insGGGGGGGGGGGGGGGG, NC_000001.10:g.110025493_110025494insGGGGGGGGGGGGGGGGGGGGG

Select item 14909801926.

rs1490980192 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:109488478 (GRCh38)
1:110031100 (GRCh37)
Canonical SPDI:: NC_000001.11:109488477:C:T
Gene:: ATXN7L2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.109488478C>T, NC_000001.10:g.110031100C>T

Select item 14905764027.

rs1490576402 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:109484469 (GRCh38)
1:110027092 (GRCh37)
Canonical SPDI:: NC_000001.11:109484469:CCCCCC:CCCCCCC
Gene:: ATXN7L2 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CCCCCCC=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.109484475dup, NC_000001.10:g.110027097dup, XM_011540639.4:c.-1129dup, XM_011540639.3:c.-1129dup, XM_011540639.2:c.-1129dup, XM_011540639.1:c.-1129dup, XM_017000267.3:c.-591dup, XM_017000267.2:c.-591dup, XM_017000267.1:c.-591dup, XM_047444962.1:c.-582dup

Select item 14905468678.

rs1490546867 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:109483865 (GRCh38)
1:110026487 (GRCh37)
Canonical SPDI:: NC_000001.11:109483864:G:C
Gene:: ATXN7L2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.109483865G>C, NC_000001.10:g.110026487G>C

Select item 14905114689.

rs1490511468 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:109491011 (GRCh38)
1:110033633 (GRCh37)
Canonical SPDI:: NC_000001.11:109491010:C:G
Gene:: ATXN7L2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.109491011C>G, NC_000001.10:g.110033633C>G, NM_153340.5:c.1448C>G, NM_153340.4:c.1448C>G, XM_011540639.4:c.1370C>G, XM_011540639.3:c.1370C>G, XM_011540639.2:c.1370C>G, XM_011540639.1:c.1370C>G, XM_011540641.3:c.1370C>G, XM_011540641.2:c.1370C>G, XM_011540641.1:c.1370C>G, XM_017000267.3:c.1370C>G, XM_017000267.2:c.1370C>G, XM_017000267.1:c.1370C>G, XM_011540638.3:c.1478C>G, XM_011540638.2:c.1478C>G, XM_011540638.1:c.1478C>G, NM_001350177.2:c.1370C>G, NM_001350177.1:c.1370C>G, NM_001350175.2:c.1544C>G, NM_001350175.1:c.1544C>G, XM_047444943.1:c.1370C>G, XM_047444962.1:c.1370C>G, NM_001350174.1:c.1544C>G, XM_047444940.1:c.1478C>G, XM_047444974.1:c.899C>G, XM_047444992.1:c.899C>G, NP_699171.3:p.Pro483Arg, XP_011538941.1:p.Pro457Arg, XP_011538943.1:p.Pro457Arg, XP_016855756.1:p.Pro457Arg, XP_011538940.1:p.Pro493Arg, NP_001337106.1:p.Pro457Arg, NP_001337104.1:p.Pro515Arg, XP_047300899.1:p.Pro457Arg, XP_047300918.1:p.Pro457Arg, NP_001337103.1:p.Pro515Arg, XP_047300896.1:p.Pro493Arg, XP_047300930.1:p.Pro300Arg, XP_047300948.1:p.Pro300Arg

Select item 149047645010.

rs1490476450 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 1:109489109 (GRCh38)
1:110031731 (GRCh37)
Canonical SPDI:: NC_000001.11:109489108:A:G,NC_000001.11:109489108:A:T
Gene:: ATXN7L2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.109489109A>G, NC_000001.11:g.109489109A>T, NC_000001.10:g.110031731A>G, NC_000001.10:g.110031731A>T

Select item 149021833711.

rs1490218337 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:109483248 (GRCh38)
1:110025870 (GRCh37)
Canonical SPDI:: NC_000001.11:109483247:A:G
Gene:: ATXN7L2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.109483248A>G, NC_000001.10:g.110025870A>G

Select item 149021297512.

rs1490212975 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAATGTTTG [Show Flanks]
Chromosome:: 1:109492954 (GRCh38)
1:110035577 (GRCh37)
Canonical SPDI:: NC_000001.11:109492954:AAATGTTTG:AAATGTTTGAAATGTTTG
Gene:: ATXN7L2 (Varview), CYB561D1 (Varview)
Functional Consequence:: 500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: AAATGTTTGAAATGTTTG=0./0 (ALFA)
AAATGTTTG=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.109492955_109492963dup, NC_000001.10:g.110035577_110035585dup

Select item 148971119613.

rs1489711196 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:109490334 (GRCh38)
1:110032956 (GRCh37)
Canonical SPDI:: NC_000001.11:109490333:C:T
Gene:: ATXN7L2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.109490334C>T, NC_000001.10:g.110032956C>T, NM_153340.5:c.1300C>T, NM_153340.4:c.1300C>T, XM_011540639.4:c.1222C>T, XM_011540639.3:c.1222C>T, XM_011540639.2:c.1222C>T, XM_011540639.1:c.1222C>T, XM_011540641.3:c.1222C>T, XM_011540641.2:c.1222C>T, XM_011540641.1:c.1222C>T, XM_017000267.3:c.1222C>T, XM_017000267.2:c.1222C>T, XM_017000267.1:c.1222C>T, XM_011540638.3:c.1330C>T, XM_011540638.2:c.1330C>T, XM_011540638.1:c.1330C>T, NM_001350177.2:c.1222C>T, NM_001350177.1:c.1222C>T, NM_001350175.2:c.1396C>T, NM_001350175.1:c.1396C>T, XM_047444943.1:c.1222C>T, XM_047444962.1:c.1222C>T, NM_001350174.1:c.1396C>T, XM_047444940.1:c.1330C>T, XM_047444974.1:c.751C>T, XM_047444992.1:c.751C>T, NP_699171.3:p.Arg434Trp, XP_011538941.1:p.Arg408Trp, XP_011538943.1:p.Arg408Trp, XP_016855756.1:p.Arg408Trp, XP_011538940.1:p.Arg444Trp, NP_001337106.1:p.Arg408Trp, NP_001337104.1:p.Arg466Trp, XP_047300899.1:p.Arg408Trp, XP_047300918.1:p.Arg408Trp, NP_001337103.1:p.Arg466Trp, XP_047300896.1:p.Arg444Trp, XP_047300930.1:p.Arg251Trp, XP_047300948.1:p.Arg251Trp

Select item 148952487514.

rs1489524875 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:109488742 (GRCh38)
1:110031364 (GRCh37)
Canonical SPDI:: NC_000001.11:109488741:C:T
Gene:: ATXN7L2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.109488742C>T, NC_000001.10:g.110031364C>T

Select item 148940264315.

rs1489402643 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:109483920 (GRCh38)
1:110026542 (GRCh37)
Canonical SPDI:: NC_000001.11:109483919:G:A
Gene:: ATXN7L2 (Varview)
Functional Consequence:: upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.109483920G>A, NC_000001.10:g.110026542G>A, NM_153340.5:c.-34G>A, XM_011540641.3:c.-933G>A, XM_011540638.3:c.-34G>A, XM_011540646.3:c.-34G>A, XM_011540646.2:c.-34G>A, XM_011540646.1:c.-34G>A, NM_001350175.2:c.-34G>A, NM_001350175.1:c.-34G>A, XM_047444943.1:c.-998G>A, NM_001350177.1:c.-395G>A, NM_001350174.1:c.-34G>A, XM_047444940.1:c.-34G>A

Select item 148936991216.

rs1489369912 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:109491149 (GRCh38)
1:110033771 (GRCh37)
Canonical SPDI:: NC_000001.11:109491148:G:A,NC_000001.11:109491148:G:C
Gene:: ATXN7L2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.109491149G>A, NC_000001.11:g.109491149G>C, NC_000001.10:g.110033771G>A, NC_000001.10:g.110033771G>C, NM_153340.5:c.1586G>A, NM_153340.5:c.1586G>C, NM_153340.4:c.1586G>A, NM_153340.4:c.1586G>C, XM_011540639.4:c.1508G>A, XM_011540639.4:c.1508G>C, XM_011540639.3:c.1508G>A, XM_011540639.3:c.1508G>C, XM_011540639.2:c.1508G>A, XM_011540639.2:c.1508G>C, XM_011540639.1:c.1508G>A, XM_011540639.1:c.1508G>C, XM_011540641.3:c.1508G>A, XM_011540641.3:c.1508G>C, XM_011540641.2:c.1508G>A, XM_011540641.2:c.1508G>C, XM_011540641.1:c.1508G>A, XM_011540641.1:c.1508G>C, XM_017000267.3:c.1508G>A, XM_017000267.3:c.1508G>C, XM_017000267.2:c.1508G>A, XM_017000267.2:c.1508G>C, XM_017000267.1:c.1508G>A, XM_017000267.1:c.1508G>C, XM_011540638.3:c.1616G>A, XM_011540638.3:c.1616G>C, XM_011540638.2:c.1616G>A, XM_011540638.2:c.1616G>C, XM_011540638.1:c.1616G>A, XM_011540638.1:c.1616G>C, NM_001350177.2:c.1508G>A, NM_001350177.2:c.1508G>C, NM_001350177.1:c.1508G>A, NM_001350177.1:c.1508G>C, NM_001350175.2:c.1682G>A, NM_001350175.2:c.1682G>C, NM_001350175.1:c.1682G>A, NM_001350175.1:c.1682G>C, XM_047444943.1:c.1508G>A, XM_047444943.1:c.1508G>C, XM_047444962.1:c.1508G>A, XM_047444962.1:c.1508G>C, NM_001350174.1:c.1682G>A, NM_001350174.1:c.1682G>C, XM_047444940.1:c.1616G>A, XM_047444940.1:c.1616G>C, XM_047444974.1:c.1037G>A, XM_047444974.1:c.1037G>C, XM_047444992.1:c.1037G>A, XM_047444992.1:c.1037G>C, NP_699171.3:p.Ser529Asn, NP_699171.3:p.Ser529Thr, XP_011538941.1:p.Ser503Asn, XP_011538941.1:p.Ser503Thr, XP_011538943.1:p.Ser503Asn, XP_011538943.1:p.Ser503Thr, XP_016855756.1:p.Ser503Asn, XP_016855756.1:p.Ser503Thr, XP_011538940.1:p.Ser539Asn, XP_011538940.1:p.Ser539Thr, NP_001337106.1:p.Ser503Asn, NP_001337106.1:p.Ser503Thr, NP_001337104.1:p.Ser561Asn, NP_001337104.1:p.Ser561Thr, XP_047300899.1:p.Ser503Asn, XP_047300899.1:p.Ser503Thr, XP_047300918.1:p.Ser503Asn, XP_047300918.1:p.Ser503Thr, NP_001337103.1:p.Ser561Asn, NP_001337103.1:p.Ser561Thr, XP_047300896.1:p.Ser539Asn, XP_047300896.1:p.Ser539Thr, XP_047300930.1:p.Ser346Asn, XP_047300930.1:p.Ser346Thr, XP_047300948.1:p.Ser346Asn, XP_047300948.1:p.Ser346Thr

Select item 148926059617.

rs1489260596 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:109484140 (GRCh38)
1:110026762 (GRCh37)
Canonical SPDI:: NC_000001.11:109484139:G:A,NC_000001.11:109484139:G:T
Gene:: ATXN7L2 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.109484140G>A, NC_000001.11:g.109484140G>T, NC_000001.10:g.110026762G>A, NC_000001.10:g.110026762G>T, XM_011540639.4:c.-1464G>A, XM_011540639.4:c.-1464G>T, XM_011540639.3:c.-1464G>A, XM_011540639.3:c.-1464G>T, XM_011540639.2:c.-1464G>A, XM_011540639.2:c.-1464G>T, XM_011540639.1:c.-1464G>A, XM_011540639.1:c.-1464G>T, XM_017000267.3:c.-926G>A, XM_017000267.3:c.-926G>T, XM_017000267.2:c.-926G>A, XM_017000267.2:c.-926G>T, XM_017000267.1:c.-926G>A, XM_017000267.1:c.-926G>T, XM_047444962.1:c.-917G>A, XM_047444962.1:c.-917G>T

Select item 148919657418.

rs1489196574 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:109483058 (GRCh38)
1:110025680 (GRCh37)
Canonical SPDI:: NC_000001.11:109483057:T:A
Gene:: ATXN7L2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.109483058T>A, NC_000001.10:g.110025680T>A

Select item 148892871419.

rs1488928714 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:109484087 (GRCh38)
1:110026709 (GRCh37)
Canonical SPDI:: NC_000001.11:109484086:A:G
Gene:: ATXN7L2 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
HGVS:: NC_000001.11:g.109484087A>G, NC_000001.10:g.110026709A>G