SNP Links for Gene (Select 488) - SNP

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Select item 14915704651.

rs1491570465 has merged into rs5800888 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 12:110297449 (GRCh38)
12:110735254 (GRCh37)
Canonical SPDI:: NC_000012.12:110297434:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:110297434:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:110297434:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:110297434:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:110297434:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:110297434:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:110297434:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:110297434:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: ATP2A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.0018/1 (NorthernSweden)
-=0.2362/1183 (1000Genomes)
HGVS:: NC_000012.12:g.110297449_110297452del, NC_000012.12:g.110297450_110297452del, NC_000012.12:g.110297451_110297452del, NC_000012.12:g.110297452del, NC_000012.12:g.110297452dup, NC_000012.12:g.110297451_110297452dup, NC_000012.12:g.110297450_110297452dup, NC_000012.12:g.110297449_110297452dup, NC_000012.11:g.110735254_110735257del, NC_000012.11:g.110735255_110735257del, NC_000012.11:g.110735256_110735257del, NC_000012.11:g.110735257del, NC_000012.11:g.110735257dup, NC_000012.11:g.110735256_110735257dup, NC_000012.11:g.110735255_110735257dup, NC_000012.11:g.110735254_110735257dup, NG_007097.2:g.20823_20826del, NG_007097.2:g.20824_20826del, NG_007097.2:g.20825_20826del, NG_007097.2:g.20826del, NG_007097.2:g.20826dup, NG_007097.2:g.20825_20826dup, NG_007097.2:g.20824_20826dup, NG_007097.2:g.20823_20826dup

Select item 14915131202.

rs1491513120 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 12:110300185 (GRCh38)
12:110737991 (GRCh37)
Canonical SPDI:: NC_000012.12:110300185::C
Gene:: ATP2A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.00008/1 (ALFA)
C=0.00012/4 (GnomAD)
HGVS:: NC_000012.12:g.110300185_110300186insC, NC_000012.11:g.110737990_110737991insC, NG_007097.2:g.23559_23560insC

Select item 14914954363.

rs1491495436 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,ATA,ATATA,ATATATA,ATATATATA,ATATATATATA,ATATATATATATA,ATATATATATATATA,ATATATATATATATATA,ATATATATATATATATATA,ATATATATATATATATATATA,ATATATATATATATATATATATA,G [Show Flanks]
Chromosome:: 12:110293871 (GRCh38)
12:110731677 (GRCh37)
Canonical SPDI:: NC_000012.12:110293871::A,NC_000012.12:110293871::ATA,NC_000012.12:110293871::ATATA,NC_000012.12:110293871::ATATATA,NC_000012.12:110293871::ATATATATA,NC_000012.12:110293871::ATATATATATA,NC_000012.12:110293871::ATATATATATATA,NC_000012.12:110293871::ATATATATATATATA,NC_000012.12:110293871::ATATATATATATATATA,NC_000012.12:110293871::ATATATATATATATATATA,NC_000012.12:110293871::ATATATATATATATATATATA,NC_000012.12:110293871::ATATATATATATATATATATATA,NC_000012.12:110293871::G
Gene:: ATP2A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATA=0./0 (ALFA)
HGVS:: NC_000012.12:g.110293871_110293872insA, NC_000012.12:g.110293871_110293872insATA, NC_000012.12:g.110293871_110293872insATATA, NC_000012.12:g.110293871_110293872insATATATA, NC_000012.12:g.110293871_110293872insATATATATA, NC_000012.12:g.110293871_110293872insATATATATATA, NC_000012.12:g.110293871_110293872insATATATATATATA, NC_000012.12:g.110293871_110293872insATATATATATATATA, NC_000012.12:g.110293871_110293872insATATATATATATATATA, NC_000012.12:g.110293871_110293872insATATATATATATATATATA, NC_000012.12:g.110293871_110293872insATATATATATATATATATATA, NC_000012.12:g.110293871_110293872insATATATATATATATATATATATA, NC_000012.12:g.110293871_110293872insG, NC_000012.11:g.110731676_110731677insA, NC_000012.11:g.110731676_110731677insATA, NC_000012.11:g.110731676_110731677insATATA, NC_000012.11:g.110731676_110731677insATATATA, NC_000012.11:g.110731676_110731677insATATATATA, NC_000012.11:g.110731676_110731677insATATATATATA, NC_000012.11:g.110731676_110731677insATATATATATATA, NC_000012.11:g.110731676_110731677insATATATATATATATA, NC_000012.11:g.110731676_110731677insATATATATATATATATA, NC_000012.11:g.110731676_110731677insATATATATATATATATATA, NC_000012.11:g.110731676_110731677insATATATATATATATATATATA, NC_000012.11:g.110731676_110731677insATATATATATATATATATATATA, NC_000012.11:g.110731676_110731677insG, NG_007097.2:g.17245_17246insA, NG_007097.2:g.17245_17246insATA, NG_007097.2:g.17245_17246insATATA, NG_007097.2:g.17245_17246insATATATA, NG_007097.2:g.17245_17246insATATATATA, NG_007097.2:g.17245_17246insATATATATATA, NG_007097.2:g.17245_17246insATATATATATATA, NG_007097.2:g.17245_17246insATATATATATATATA, NG_007097.2:g.17245_17246insATATATATATATATATA, NG_007097.2:g.17245_17246insATATATATATATATATATA, NG_007097.2:g.17245_17246insATATATATATATATATATATA, NG_007097.2:g.17245_17246insATATATATATATATATATATATA, NG_007097.2:g.17245_17246insG

Select item 14914114384.

rs1491411438 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 12:110312866 (GRCh38)
12:110750671 (GRCh37)
Canonical SPDI:: NC_000012.12:110312864:AGA:A
Gene:: ATP2A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000012.12:g.110312866_110312867del, NC_000012.11:g.110750671_110750672del, NG_007097.2:g.36240_36241del

Select item 14913872775.

rs1491387277 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 12:110312865 (GRCh38)
12:110750671 (GRCh37)
Canonical SPDI:: NC_000012.12:110312865:G:GG
Gene:: ATP2A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.001232/172 (GnomAD)
HGVS:: NC_000012.12:g.110312866dup, NC_000012.11:g.110750671dup, NG_007097.2:g.36240dup

Select item 14913830636.

rs1491383063 has merged into rs10568177 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTATTATTATTA>-,TTA,TTATTA,TTATTATTA,TTATTATTATTATTA,TTATTATTATTATTATTA,TTATTATTATTATTATTATTA,TTATTATTATTATTATTATTATTA,TTATTATTATTATTATTATTATTATTA,TTATTATTATTATTATTATTATTATTATTA [Show Flanks]
Chromosome:: 12:110302599 (GRCh38)
12:110740404 (GRCh37)
Canonical SPDI:: NC_000012.12:110302584:TATTATTATTATTATTATTATTATTA:TATTATTATTATTA,NC_000012.12:110302584:TATTATTATTATTATTATTATTATTA:TATTATTATTATTATTA,NC_000012.12:110302584:TATTATTATTATTATTATTATTATTA:TATTATTATTATTATTATTA,NC_000012.12:110302584:TATTATTATTATTATTATTATTATTA:TATTATTATTATTATTATTATTA,NC_000012.12:110302584:TATTATTATTATTATTATTATTATTA:TATTATTATTATTATTATTATTATTATTA,NC_000012.12:110302584:TATTATTATTATTATTATTATTATTA:TATTATTATTATTATTATTATTATTATTATTA,NC_000012.12:110302584:TATTATTATTATTATTATTATTATTA:TATTATTATTATTATTATTATTATTATTATTATTA,NC_000012.12:110302584:TATTATTATTATTATTATTATTATTA:TATTATTATTATTATTATTATTATTATTATTATTATTA,NC_000012.12:110302584:TATTATTATTATTATTATTATTATTA:TATTATTATTATTATTATTATTATTATTATTATTATTATTA,NC_000012.12:110302584:TATTATTATTATTATTATTATTATTA:TATTATTATTATTATTATTATTATTATTATTATTATTATTATTA
Gene:: ATP2A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATTATTATTATTATTA=0./0 (ALFA)
TATTATTAT=0.00419/1109 (TOPMED)
TAT=0.281949/1412 (1000Genomes)
HGVS:: NC_000012.12:g.110302587TTA[4], NC_000012.12:g.110302587TTA[5], NC_000012.12:g.110302587TTA[6], NC_000012.12:g.110302587TTA[7], NC_000012.12:g.110302587TTA[9], NC_000012.12:g.110302587TTA[10], NC_000012.12:g.110302587TTA[11], NC_000012.12:g.110302587TTA[12], NC_000012.12:g.110302587TTA[13], NC_000012.12:g.110302587TTA[14], NC_000012.11:g.110740392TTA[4], NC_000012.11:g.110740392TTA[5], NC_000012.11:g.110740392TTA[6], NC_000012.11:g.110740392TTA[7], NC_000012.11:g.110740392TTA[9], NC_000012.11:g.110740392TTA[10], NC_000012.11:g.110740392TTA[11], NC_000012.11:g.110740392TTA[12], NC_000012.11:g.110740392TTA[13], NC_000012.11:g.110740392TTA[14], NG_007097.2:g.25961TTA[4], NG_007097.2:g.25961TTA[5], NG_007097.2:g.25961TTA[6], NG_007097.2:g.25961TTA[7], NG_007097.2:g.25961TTA[9], NG_007097.2:g.25961TTA[10], NG_007097.2:g.25961TTA[11], NG_007097.2:g.25961TTA[12], NG_007097.2:g.25961TTA[13], NG_007097.2:g.25961TTA[14]

Select item 14913800427.

rs1491380042 has merged into rs58660341 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 12:110309918 (GRCh38)
12:110747723 (GRCh37)
Canonical SPDI:: NC_000012.12:110309908:AAAAAAAAAAAAAA:AAAAAAAAA,NC_000012.12:110309908:AAAAAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:110309908:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:110309908:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:110309908:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:110309908:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:110309908:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:110309908:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:110309908:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: ATP2A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.0903/348 (ALSPAC)
-=0.3429/1717 (1000Genomes)
HGVS:: NC_000012.12:g.110309918_110309922del, NC_000012.12:g.110309919_110309922del, NC_000012.12:g.110309920_110309922del, NC_000012.12:g.110309921_110309922del, NC_000012.12:g.110309922del, NC_000012.12:g.110309922dup, NC_000012.12:g.110309921_110309922dup, NC_000012.12:g.110309920_110309922dup, NC_000012.12:g.110309916_110309922dup, NC_000012.11:g.110747723_110747727del, NC_000012.11:g.110747724_110747727del, NC_000012.11:g.110747725_110747727del, NC_000012.11:g.110747726_110747727del, NC_000012.11:g.110747727del, NC_000012.11:g.110747727dup, NC_000012.11:g.110747726_110747727dup, NC_000012.11:g.110747725_110747727dup, NC_000012.11:g.110747721_110747727dup, NG_007097.2:g.33292_33296del, NG_007097.2:g.33293_33296del, NG_007097.2:g.33294_33296del, NG_007097.2:g.33295_33296del, NG_007097.2:g.33296del, NG_007097.2:g.33296dup, NG_007097.2:g.33295_33296dup, NG_007097.2:g.33294_33296dup, NG_007097.2:g.33290_33296dup

Select item 14912753148.

rs1491275314 has merged into rs1193882539 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTT>-,TTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 12:110300190 (GRCh38)
12:110737995 (GRCh37)
Canonical SPDI:: NC_000012.12:110300184:TTTTTTTTTTTTTTTTTTTT:TTTTT,NC_000012.12:110300184:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000012.12:110300184:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:110300184:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:110300184:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:110300184:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:110300184:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:110300184:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:110300184:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:110300184:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:110300184:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:110300184:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:110300184:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:110300184:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ATP2A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.110300190_110300204del, NC_000012.12:g.110300194_110300204del, NC_000012.12:g.110300196_110300204del, NC_000012.12:g.110300198_110300204del, NC_000012.12:g.110300199_110300204del, NC_000012.12:g.110300200_110300204del, NC_000012.12:g.110300201_110300204del, NC_000012.12:g.110300202_110300204del, NC_000012.12:g.110300203_110300204del, NC_000012.12:g.110300204del, NC_000012.12:g.110300204dup, NC_000012.12:g.110300203_110300204dup, NC_000012.12:g.110300202_110300204dup, NC_000012.12:g.110300201_110300204dup, NC_000012.11:g.110737995_110738009del, NC_000012.11:g.110737999_110738009del, NC_000012.11:g.110738001_110738009del, NC_000012.11:g.110738003_110738009del, NC_000012.11:g.110738004_110738009del, NC_000012.11:g.110738005_110738009del, NC_000012.11:g.110738006_110738009del, NC_000012.11:g.110738007_110738009del, NC_000012.11:g.110738008_110738009del, NC_000012.11:g.110738009del, NC_000012.11:g.110738009dup, NC_000012.11:g.110738008_110738009dup, NC_000012.11:g.110738007_110738009dup, NC_000012.11:g.110738006_110738009dup, NG_007097.2:g.23564_23578del, NG_007097.2:g.23568_23578del, NG_007097.2:g.23570_23578del, NG_007097.2:g.23572_23578del, NG_007097.2:g.23573_23578del, NG_007097.2:g.23574_23578del, NG_007097.2:g.23575_23578del, NG_007097.2:g.23576_23578del, NG_007097.2:g.23577_23578del, NG_007097.2:g.23578del, NG_007097.2:g.23578dup, NG_007097.2:g.23577_23578dup, NG_007097.2:g.23576_23578dup, NG_007097.2:g.23575_23578dup

Select item 14912302629.

rs1491230262 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 12:110297434 (GRCh38)
12:110735239 (GRCh37)
Canonical SPDI:: NC_000012.12:110297433:CA:
Gene:: ATP2A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000012.12:g.110297434_110297435del, NC_000012.11:g.110735239_110735240del, NG_007097.2:g.20808_20809del

Select item 149122040010.

rs1491220400 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 12:110309908 (GRCh38)
12:110747713 (GRCh37)
Canonical SPDI:: NC_000012.12:110309907:CA:
Gene:: ATP2A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000012.12:g.110309908_110309909del, NC_000012.11:g.110747713_110747714del, NG_007097.2:g.33282_33283del

Select item 149118802511.

rs1491188025 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 12:110344290 (GRCh38)
12:110782095 (GRCh37)
Canonical SPDI:: NC_000012.12:110344286:TGTGT:TGT
Gene:: ATP2A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGT=0.000071/1 (ALFA)
-=0./0 (TWINSUK)
-=0.000011/3 (TOPMED)
-=0.000259/1 (ALSPAC)
HGVS:: NC_000012.12:g.110344288GT[1], NC_000012.11:g.110782093GT[1], NG_007097.2:g.67662GT[1]

Select item 149113148912.

rs1491131489 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 12:110311595 (GRCh38)
12:110749400 (GRCh37)
Canonical SPDI:: NC_000012.12:110311594:CA:
Gene:: ATP2A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000012.12:g.110311595_110311596del, NC_000012.11:g.110749400_110749401del, NG_007097.2:g.34969_34970del

Select item 149109774613.

rs1491097746 has merged into rs398021049 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 12:110293882 (GRCh38)
12:110731687 (GRCh37)
Canonical SPDI:: NC_000012.12:110293870:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:110293870:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:110293870:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:110293870:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:110293870:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:110293870:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:110293870:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:110293870:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:110293870:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:110293870:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:110293870:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:110293870:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:110293870:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:110293870:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:110293870:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:110293870:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:110293870:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:110293870:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ATP2A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.110293882_110293895del, NC_000012.12:g.110293883_110293895del, NC_000012.12:g.110293884_110293895del, NC_000012.12:g.110293885_110293895del, NC_000012.12:g.110293886_110293895del, NC_000012.12:g.110293887_110293895del, NC_000012.12:g.110293888_110293895del, NC_000012.12:g.110293889_110293895del, NC_000012.12:g.110293890_110293895del, NC_000012.12:g.110293891_110293895del, NC_000012.12:g.110293892_110293895del, NC_000012.12:g.110293893_110293895del, NC_000012.12:g.110293894_110293895del, NC_000012.12:g.110293895del, NC_000012.12:g.110293895dup, NC_000012.12:g.110293894_110293895dup, NC_000012.12:g.110293893_110293895dup, NC_000012.12:g.110293875_110293895dup, NC_000012.11:g.110731687_110731700del, NC_000012.11:g.110731688_110731700del, NC_000012.11:g.110731689_110731700del, NC_000012.11:g.110731690_110731700del, NC_000012.11:g.110731691_110731700del, NC_000012.11:g.110731692_110731700del, NC_000012.11:g.110731693_110731700del, NC_000012.11:g.110731694_110731700del, NC_000012.11:g.110731695_110731700del, NC_000012.11:g.110731696_110731700del, NC_000012.11:g.110731697_110731700del, NC_000012.11:g.110731698_110731700del, NC_000012.11:g.110731699_110731700del, NC_000012.11:g.110731700del, NC_000012.11:g.110731700dup, NC_000012.11:g.110731699_110731700dup, NC_000012.11:g.110731698_110731700dup, NC_000012.11:g.110731680_110731700dup, NG_007097.2:g.17256_17269del, NG_007097.2:g.17257_17269del, NG_007097.2:g.17258_17269del, NG_007097.2:g.17259_17269del, NG_007097.2:g.17260_17269del, NG_007097.2:g.17261_17269del, NG_007097.2:g.17262_17269del, NG_007097.2:g.17263_17269del, NG_007097.2:g.17264_17269del, NG_007097.2:g.17265_17269del, NG_007097.2:g.17266_17269del, NG_007097.2:g.17267_17269del, NG_007097.2:g.17268_17269del, NG_007097.2:g.17269del, NG_007097.2:g.17269dup, NG_007097.2:g.17268_17269dup, NG_007097.2:g.17267_17269dup, NG_007097.2:g.17249_17269dup

Select item 149106600714.

rs1491066007 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 12:110319222 (GRCh38)
12:110757028 (GRCh37)
Canonical SPDI:: NC_000012.12:110319222:G:GG
Gene:: ATP2A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
G=0.00013/1 (GnomAD)
HGVS:: NC_000012.12:g.110319223dup, NC_000012.11:g.110757028dup, NG_007097.2:g.42597dup

Select item 149104626715.

rs1491046267 has merged into rs371107246 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 12:110285925 (GRCh38)
12:110723730 (GRCh37)
Canonical SPDI:: NC_000012.12:110285915:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000012.12:110285915:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:110285915:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:110285915:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:110285915:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:110285915:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:110285915:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:110285915:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:110285915:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:110285915:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:110285915:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:110285915:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:110285915:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:110285915:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:110285915:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:110285915:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:110285915:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:110285915:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ATP2A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000012.12:g.110285925_110285935del, NC_000012.12:g.110285928_110285935del, NC_000012.12:g.110285929_110285935del, NC_000012.12:g.110285931_110285935del, NC_000012.12:g.110285932_110285935del, NC_000012.12:g.110285933_110285935del, NC_000012.12:g.110285934_110285935del, NC_000012.12:g.110285935del, NC_000012.12:g.110285935dup, NC_000012.12:g.110285934_110285935dup, NC_000012.12:g.110285933_110285935dup, NC_000012.12:g.110285932_110285935dup, NC_000012.12:g.110285931_110285935dup, NC_000012.12:g.110285930_110285935dup, NC_000012.12:g.110285928_110285935dup, NC_000012.12:g.110285924_110285935dup, NC_000012.12:g.110285923_110285935dup, NC_000012.12:g.110285922_110285935dup, NC_000012.11:g.110723730_110723740del, NC_000012.11:g.110723733_110723740del, NC_000012.11:g.110723734_110723740del, NC_000012.11:g.110723736_110723740del, NC_000012.11:g.110723737_110723740del, NC_000012.11:g.110723738_110723740del, NC_000012.11:g.110723739_110723740del, NC_000012.11:g.110723740del, NC_000012.11:g.110723740dup, NC_000012.11:g.110723739_110723740dup, NC_000012.11:g.110723738_110723740dup, NC_000012.11:g.110723737_110723740dup, NC_000012.11:g.110723736_110723740dup, NC_000012.11:g.110723735_110723740dup, NC_000012.11:g.110723733_110723740dup, NC_000012.11:g.110723729_110723740dup, NC_000012.11:g.110723728_110723740dup, NC_000012.11:g.110723727_110723740dup, NG_007097.2:g.9299_9309del, NG_007097.2:g.9302_9309del, NG_007097.2:g.9303_9309del, NG_007097.2:g.9305_9309del, NG_007097.2:g.9306_9309del, NG_007097.2:g.9307_9309del, NG_007097.2:g.9308_9309del, NG_007097.2:g.9309del, NG_007097.2:g.9309dup, NG_007097.2:g.9308_9309dup, NG_007097.2:g.9307_9309dup, NG_007097.2:g.9306_9309dup, NG_007097.2:g.9305_9309dup, NG_007097.2:g.9304_9309dup, NG_007097.2:g.9302_9309dup, NG_007097.2:g.9298_9309dup, NG_007097.2:g.9297_9309dup, NG_007097.2:g.9296_9309dup

Select item 149099279816.

rs1490992798 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:110313305 (GRCh38)
12:110751110 (GRCh37)
Canonical SPDI:: NC_000012.12:110313304:C:G
Gene:: ATP2A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/1 (GnomAD)
HGVS:: NC_000012.12:g.110313305C>G, NC_000012.11:g.110751110C>G, NG_007097.2:g.36679C>G

Select item 149097652117.

rs1490976521 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:110288603 (GRCh38)
12:110726408 (GRCh37)
Canonical SPDI:: NC_000012.12:110288602:C:T
Gene:: ATP2A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000012.12:g.110288603C>T, NC_000012.11:g.110726408C>T, NG_007097.2:g.11977C>T

Select item 149091918218.

rs1490919182 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 12:110280530 (GRCh38)
12:110718335 (GRCh37)
Canonical SPDI:: NC_000012.12:110280529:C:G,NC_000012.12:110280529:C:T
Gene:: ATP2A2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000012.12:g.110280530C>G, NC_000012.12:g.110280530C>T, NC_000012.11:g.110718335C>G, NC_000012.11:g.110718335C>T, NG_007097.2:g.3904C>G, NG_007097.2:g.3904C>T

Select item 149089168819.

rs1490891688 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:110343879 (GRCh38)
12:110781684 (GRCh37)
Canonical SPDI:: NC_000012.12:110343878:C:T
Gene:: ATP2A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000042/11 (TOPMED)
HGVS:: NC_000012.12:g.110343879C>T, NC_000012.11:g.110781684C>T, NG_007097.2:g.67253C>T

Select item 149087837720.

rs1490878377 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:110327372 (GRCh38)
12:110765177 (GRCh37)
Canonical SPDI:: NC_000012.12:110327371:G:A
Gene:: ATP2A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.110327372G>A, NC_000012.11:g.110765177G>A, NG_007097.2:g.50746G>A

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