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Select item 14915597021.

rs1491559702 has merged into rs1245235858 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT,TTT,TTTT [Show Flanks]
Chromosome:: 12:89681383 (GRCh38)
12:90075160 (GRCh37)
Canonical SPDI:: NC_000012.12:89681382:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:89681382:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:89681382:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:89681382:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
Gene:: ATP2B1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000012.12:g.89681398del, NC_000012.12:g.89681398dup, NC_000012.12:g.89681397_89681398dup, NC_000012.12:g.89681396_89681398dup, NC_000012.11:g.90075175del, NC_000012.11:g.90075175dup, NC_000012.11:g.90075174_90075175dup, NC_000012.11:g.90075173_90075175dup, NG_029485.2:g.32971del, NG_029485.2:g.32971dup, NG_029485.2:g.32970_32971dup, NG_029485.2:g.32969_32971dup

Select item 14915551342.

rs1491555134 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 12:89623816 (GRCh38)
12:90017593 (GRCh37)
Canonical SPDI:: NC_000012.12:89623815:CT:
Gene:: ATP2B1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000021/3 (GnomAD)
-=0.000064/17 (TOPMED)
HGVS:: NC_000012.12:g.89623816_89623817del, NC_000012.11:g.90017593_90017594del, NG_029485.2:g.90537_90538del

Select item 14915049613.

rs1491504961 has merged into rs59301153 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,A,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 12:89697074 (GRCh38)
12:90090851 (GRCh37)
Canonical SPDI:: NC_000012.12:89697064:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000012.12:89697064:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:89697064:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:89697064:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:89697064:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:89697064:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:89697064:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:89697064:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:89697064:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:89697064:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:89697064:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:89697064:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:89697064:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ATP2B1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
AA=0.0705/353 (1000Genomes)
HGVS:: NC_000012.12:g.89697074_89697083del, NC_000012.12:g.89697075_89697083del, NC_000012.12:g.89697078_89697083del, NC_000012.12:g.89697079_89697083del, NC_000012.12:g.89697080_89697083del, NC_000012.12:g.89697081_89697083del, NC_000012.12:g.89697082_89697083del, NC_000012.12:g.89697083del, NC_000012.12:g.89697083dup, NC_000012.12:g.89697082_89697083dup, NC_000012.12:g.89697081_89697083dup, NC_000012.12:g.89697080_89697083dup, NC_000012.12:g.89697079_89697083dup, NC_000012.11:g.90090851_90090860del, NC_000012.11:g.90090852_90090860del, NC_000012.11:g.90090855_90090860del, NC_000012.11:g.90090856_90090860del, NC_000012.11:g.90090857_90090860del, NC_000012.11:g.90090858_90090860del, NC_000012.11:g.90090859_90090860del, NC_000012.11:g.90090860del, NC_000012.11:g.90090860dup, NC_000012.11:g.90090859_90090860dup, NC_000012.11:g.90090858_90090860dup, NC_000012.11:g.90090857_90090860dup, NC_000012.11:g.90090856_90090860dup, NG_029485.2:g.17280_17289del, NG_029485.2:g.17281_17289del, NG_029485.2:g.17284_17289del, NG_029485.2:g.17285_17289del, NG_029485.2:g.17286_17289del, NG_029485.2:g.17287_17289del, NG_029485.2:g.17288_17289del, NG_029485.2:g.17289del, NG_029485.2:g.17289dup, NG_029485.2:g.17288_17289dup, NG_029485.2:g.17287_17289dup, NG_029485.2:g.17286_17289dup, NG_029485.2:g.17285_17289dup

Select item 14914907984.

rs1491490798 has merged into rs35089871 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 12:89621812 (GRCh38)
12:90015589 (GRCh37)
Canonical SPDI:: NC_000012.12:89621802:AAAAAAAAAAAA:AAAAAAAAA,NC_000012.12:89621802:AAAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:89621802:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:89621802:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:89621802:AAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:89621802:AAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:89621802:AAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:89621802:AAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:89621802:AAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: ATP2B1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.014/4 (1000Genomes)
-=0.0272/16 (NorthernSweden)
-=0.0348/134 (ALSPAC)
-=0.0359/133 (TWINSUK)
-=0.075/3 (GENOME_DK)
HGVS:: NC_000012.12:g.89621812_89621814del, NC_000012.12:g.89621813_89621814del, NC_000012.12:g.89621814del, NC_000012.12:g.89621814dup, NC_000012.12:g.89621813_89621814dup, NC_000012.12:g.89621812_89621814dup, NC_000012.12:g.89621811_89621814dup, NC_000012.12:g.89621809_89621814dup, NC_000012.12:g.89621808_89621814dup, NC_000012.11:g.90015589_90015591del, NC_000012.11:g.90015590_90015591del, NC_000012.11:g.90015591del, NC_000012.11:g.90015591dup, NC_000012.11:g.90015590_90015591dup, NC_000012.11:g.90015589_90015591dup, NC_000012.11:g.90015588_90015591dup, NC_000012.11:g.90015586_90015591dup, NC_000012.11:g.90015585_90015591dup, NG_029485.2:g.92549_92551del, NG_029485.2:g.92550_92551del, NG_029485.2:g.92551del, NG_029485.2:g.92551dup, NG_029485.2:g.92550_92551dup, NG_029485.2:g.92549_92551dup, NG_029485.2:g.92548_92551dup, NG_029485.2:g.92546_92551dup, NG_029485.2:g.92545_92551dup

Select item 14914612925.

rs1491461292 [Homo sapiens]

Variant type:: DEL
Alleles:: AC>- [Show Flanks]
Chromosome:: 12:89621814 (GRCh38)
12:90015591 (GRCh37)
Canonical SPDI:: NC_000012.12:89621813:AC:
Gene:: ATP2B1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000029/4 (GnomAD)
-=0.000042/11 (TOPMED)
-=0.000061/7 (ExAC)
-=0.000064/12 (GnomAD_exomes)
-=0.000319/5 (TOMMO)
-=0.000468/3 (1000Genomes)
-=0.001638/3 (Korea1K)
HGVS:: NC_000012.12:g.89621814_89621815del, NC_000012.11:g.90015591_90015592del, NG_029485.2:g.92539_92540del

Select item 14914522106.

rs1491452210 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTATATATATATAT,GTATATATATATATAT,GTATATATATATATATAT,GTATATATATATATATATAT,GTATATATATATATATATATAT,GTATATATATATATATATATATAT,GTATATATATATATATATATATATAT,GTATATATATATATATATATATATATAT,GTATATATATATATATATATATATATATAT,GTATATATATATATATATATATATATATATAT,GTATATATATATATATATATATATATATATATATATATAT,GTATATATATATATATATATATATATATATATATATATATAT,GTATATATATATATATATATATATATGTATATATATATAT,GTATATATATATATATATATATATATGTATATATATATATATATATATATAT,GTATATATATATATATATATATATGTATATATATATAT,GTATATATATATATATGTATATATATATATAT,GTATATGTATATATATATAT,GTGTATATATATATAT,GTGTATATATATATATAT,GTGTATATATATATATATAT,GTGTATATATATATATATATAT,GTGTATATATATATATATATATAT,GTGTATATATATATATATATATATAT,GTGTATATATATATATATATATATATAT,GTGTATATATATATATATATATATATATAT,GTGTATATATATATATATATATATATATATAT,GTGTATATATATATATATATATATATATATATATAT [Show Flanks]
Chromosome:: 12:89677954 (GRCh38)
12:90071732 (GRCh37)
Canonical SPDI:: NC_000012.12:89677954:TATATATATATAT:TATATATATATATGTATATATATATAT,NC_000012.12:89677954:TATATATATATAT:TATATATATATATGTATATATATATATAT,NC_000012.12:89677954:TATATATATATAT:TATATATATATATGTATATATATATATATAT,NC_000012.12:89677954:TATATATATATAT:TATATATATATATGTATATATATATATATATAT,NC_000012.12:89677954:TATATATATATAT:TATATATATATATGTATATATATATATATATATAT,NC_000012.12:89677954:TATATATATATAT:TATATATATATATGTATATATATATATATATATATAT,NC_000012.12:89677954:TATATATATATAT:TATATATATATATGTATATATATATATATATATATATAT,NC_000012.12:89677954:TATATATATATAT:TATATATATATATGTATATATATATATATATATATATATAT,NC_000012.12:89677954:TATATATATATAT:TATATATATATATGTATATATATATATATATATATATATATAT,NC_000012.12:89677954:TATATATATATAT:TATATATATATATGTATATATATATATATATATATATATATATAT,NC_000012.12:89677954:TATATATATATAT:TATATATATATATGTATATATATATATATATATATATATATATATATATATAT,NC_000012.12:89677954:TATATATATATAT:TATATATATATATGTATATATATATATATATATATATATATATATATATATATAT,NC_000012.12:89677954:TATATATATATAT:TATATATATATATGTATATATATATATATATATATATATGTATATATATATAT,NC_000012.12:89677954:TATATATATATAT:TATATATATATATGTATATATATATATATATATATATATGTATATATATATATATATATATATAT,NC_000012.12:89677954:TATATATATATAT:TATATATATATATGTATATATATATATATATATATATGTATATATATATAT,NC_000012.12:89677954:TATATATATATAT:TATATATATATATGTATATATATATATATGTATATATATATATAT,NC_000012.12:89677954:TATATATATATAT:TATATATATATATGTATATGTATATATATATAT,NC_000012.12:89677954:TATATATATATAT:TATATATATATATGTGTATATATATATAT,NC_000012.12:89677954:TATATATATATAT:TATATATATATATGTGTATATATATATATAT,NC_000012.12:89677954:TATATATATATAT:TATATATATATATGTGTATATATATATATATAT,NC_000012.12:89677954:TATATATATATAT:TATATATATATATGTGTATATATATATATATATAT,NC_000012.12:89677954:TATATATATATAT:TATATATATATATGTGTATATATATATATATATATAT,NC_000012.12:89677954:TATATATATATAT:TATATATATATATGTGTATATATATATATATATATATAT,NC_000012.12:89677954:TATATATATATAT:TATATATATATATGTGTATATATATATATATATATATATAT,NC_000012.12:89677954:TATATATATATAT:TATATATATATATGTGTATATATATATATATATATATATATAT,NC_000012.12:89677954:TATATATATATAT:TATATATATATATGTGTATATATATATATATATATATATATATAT,NC_000012.12:89677954:TATATATATATAT:TATATATATATATGTGTATATATATATATATATATATATATATATATAT
Gene:: ATP2B1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATGTATATATATATATAT=0./0 (ALFA)
HGVS:: NC_000012.12:g.89677955_89677967TA[6]TGTATATATATATAT[1], NC_000012.12:g.89677955_89677967TA[6]TGTATATATATATATAT[1], NC_000012.12:g.89677955_89677967TA[6]TGTATATATATATATATAT[1], NC_000012.12:g.89677955_89677967TA[6]TGTATATATATATATATATAT[1], NC_000012.12:g.89677955_89677967TA[6]TGTATATATATATATATATATAT[1], NC_000012.12:g.89677955_89677967TA[6]TGTATATATATATATATATATATAT[1], NC_000012.12:g.89677955_89677967TA[6]TGTATATATATATATATATATATATAT[1], NC_000012.12:g.89677955_89677967TA[6]TGTATATATATATATATATATATATATAT[1], NC_000012.12:g.89677955_89677967TA[6]TGTATATATATATATATATATATATATATAT[1], NC_000012.12:g.89677955_89677967TA[6]TGTATATATATATATATATATATATATATATAT[1], NC_000012.12:g.89677955_89677967TA[6]TGTATATATATATATATATATATATATATATATATATATAT[1], NC_000012.12:g.89677955_89677967TA[6]TGTATATATATATATATATATATATATATATATATATATATAT[1], NC_000012.12:g.89677955_89677967TATATATATATATGTATATATATATA[2]T[1], NC_000012.12:g.89677967_89677968insGTATATATATATATATATATATATATGTATATATATATATATATATATATAT, NC_000012.12:g.89677955_89677967TATATATATATATGTATATATATA[2]TAT[1], NC_000012.12:g.89677967_89677968insGTATATATATATATATGTATATATATATATAT, NC_000012.12:g.89677955_89677967TA[6]TGTATA[2]TA[4]T[1], NC_000012.12:g.89677955_89677967TA[6]TG[2]TA[6]T[1], NC_000012.12:g.89677955_89677967TA[6]TG[2]TA[7]T[1], NC_000012.12:g.89677955_89677967TA[6]TG[2]TA[8]T[1], NC_000012.12:g.89677955_89677967TA[6]TG[2]TA[9]T[1], NC_000012.12:g.89677955_89677967TA[6]TG[2]TA[10]T[1], NC_000012.12:g.89677955_89677967TA[6]TG[2]TA[11]T[1], NC_000012.12:g.89677955_89677967TA[6]TG[2]TA[12]T[1], NC_000012.12:g.89677955_89677967TA[6]TG[2]TA[13]T[1], NC_000012.12:g.89677955_89677967TA[6]TG[2]TA[14]T[1], NC_000012.12:g.89677955_89677967TA[6]TG[2]TA[16]T[1], NC_000012.11:g.90071732_90071744TA[6]TGTATATATATATAT[1], NC_000012.11:g.90071732_90071744TA[6]TGTATATATATATATAT[1], NC_000012.11:g.90071732_90071744TA[6]TGTATATATATATATATAT[1], NC_000012.11:g.90071732_90071744TA[6]TGTATATATATATATATATAT[1], NC_000012.11:g.90071732_90071744TA[6]TGTATATATATATATATATATAT[1], NC_000012.11:g.90071732_90071744TA[6]TGTATATATATATATATATATATAT[1], NC_000012.11:g.90071732_90071744TA[6]TGTATATATATATATATATATATATAT[1], NC_000012.11:g.90071732_90071744TA[6]TGTATATATATATATATATATATATATAT[1], NC_000012.11:g.90071732_90071744TA[6]TGTATATATATATATATATATATATATATAT[1], NC_000012.11:g.90071732_90071744TA[6]TGTATATATATATATATATATATATATATATAT[1], NC_000012.11:g.90071732_90071744TA[6]TGTATATATATATATATATATATATATATATATATATATAT[1], NC_000012.11:g.90071732_90071744TA[6]TGTATATATATATATATATATATATATATATATATATATATAT[1], NC_000012.11:g.90071732_90071744TATATATATATATGTATATATATATA[2]T[1], NC_000012.11:g.90071744_90071745insGTATATATATATATATATATATATATGTATATATATATATATATATATATAT, NC_000012.11:g.90071732_90071744TATATATATATATGTATATATATA[2]TAT[1], NC_000012.11:g.90071744_90071745insGTATATATATATATATGTATATATATATATAT, NC_000012.11:g.90071732_90071744TA[6]TGTATA[2]TA[4]T[1], NC_000012.11:g.90071732_90071744TA[6]TG[2]TA[6]T[1], NC_000012.11:g.90071732_90071744TA[6]TG[2]TA[7]T[1], NC_000012.11:g.90071732_90071744TA[6]TG[2]TA[8]T[1], NC_000012.11:g.90071732_90071744TA[6]TG[2]TA[9]T[1], NC_000012.11:g.90071732_90071744TA[6]TG[2]TA[10]T[1], NC_000012.11:g.90071732_90071744TA[6]TG[2]TA[11]T[1], NC_000012.11:g.90071732_90071744TA[6]TG[2]TA[12]T[1], NC_000012.11:g.90071732_90071744TA[6]TG[2]TA[13]T[1], NC_000012.11:g.90071732_90071744TA[6]TG[2]TA[14]T[1], NC_000012.11:g.90071732_90071744TA[6]TG[2]TA[16]T[1], NG_029485.2:g.36387_36399AT[6]ACATATATATATATA[1], NG_029485.2:g.36387_36399AT[7]ACATATATATATATA[1], NG_029485.2:g.36387_36399AT[8]ACATATATATATATA[1], NG_029485.2:g.36387_36399AT[9]ACATATATATATATA[1], NG_029485.2:g.36387_36399AT[10]ACATATATATATATA[1], NG_029485.2:g.36387_36399AT[11]ACATATATATATATA[1], NG_029485.2:g.36387_36399AT[12]ACATATATATATATA[1], NG_029485.2:g.36387_36399AT[13]ACATATATATATATA[1], NG_029485.2:g.36387_36399AT[14]ACATATATATATATA[1], NG_029485.2:g.36387_36399AT[15]ACATATATATATATA[1], NG_029485.2:g.36387_36399AT[19]ACATATATATATATA[1], NG_029485.2:g.36387_36399AT[20]ACATATATATATATA[1], NG_029485.2:g.36387_36399ATATATATATATACATATATATATAT[2]A[1], NG_029485.2:g.36399_36400insTATATATATATACATATATATATATATATATATATATACATATATATATATA, NG_029485.2:g.36387_36399ATATATATATATACATATATATAT[2]ATA[1], NG_029485.2:g.36399_36400insTACATATATATATATATACATATATATATATA, NG_029485.2:g.36387_36399AT[6]ACATAT[2]AT[4]A[1], NG_029485.2:g.36387_36399AT[6]AC[2]AT[6]A[1], NG_029485.2:g.36387_36399AT[7]AC[2]AT[6]A[1], NG_029485.2:g.36387_36399AT[8]AC[2]AT[6]A[1], NG_029485.2:g.36387_36399AT[9]AC[2]AT[6]A[1], NG_029485.2:g.36387_36399AT[10]AC[2]AT[6]A[1], NG_029485.2:g.36387_36399AT[11]AC[2]AT[6]A[1], NG_029485.2:g.36387_36399AT[12]AC[2]AT[6]A[1], NG_029485.2:g.36387_36399AT[13]AC[2]AT[6]A[1], NG_029485.2:g.36387_36399AT[14]AC[2]AT[6]A[1], NG_029485.2:g.36387_36399AT[16]AC[2]AT[6]A[1]

Select item 14913942137.

rs1491394213 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 12:89598780 (GRCh38)
12:89992557 (GRCh37)
Canonical SPDI:: NC_000012.12:89598779:AA:
Gene:: ATP2B1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000007/1 (GnomAD)
-=0.000008/1 (ExAC)
-=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.89598780_89598781del, NC_000012.11:g.89992557_89992558del, NG_029485.2:g.115573_115574del

Select item 14913672088.

rs1491367208 has merged into rs77159805 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 12:89590426 (GRCh38)
12:89984203 (GRCh37)
Canonical SPDI:: NC_000012.12:89590416:TTTTTTTTTTTTT:TTTTTTTTT,NC_000012.12:89590416:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000012.12:89590416:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:89590416:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:89590416:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:89590416:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT
Gene:: ATP2B1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.02667/16 (NorthernSweden)
-=0.15/6 (GENOME_DK)
HGVS:: NC_000012.12:g.89590426_89590429del, NC_000012.12:g.89590427_89590429del, NC_000012.12:g.89590428_89590429del, NC_000012.12:g.89590429del, NC_000012.12:g.89590429dup, NC_000012.12:g.89590428_89590429dup, NC_000012.11:g.89984203_89984206del, NC_000012.11:g.89984204_89984206del, NC_000012.11:g.89984205_89984206del, NC_000012.11:g.89984206del, NC_000012.11:g.89984206dup, NC_000012.11:g.89984205_89984206dup, NG_029485.2:g.123934_123937del, NG_029485.2:g.123935_123937del, NG_029485.2:g.123936_123937del, NG_029485.2:g.123937del, NG_029485.2:g.123937dup, NG_029485.2:g.123936_123937dup, NM_001682.3:c.*564_*567del, NM_001682.3:c.*565_*567del, NM_001682.3:c.*566_*567del, NM_001682.3:c.*567del, NM_001682.3:c.*567dup, NM_001682.3:c.*566_*567dup, NM_001682.2:c.*564_*567del, NM_001682.2:c.*565_*567del, NM_001682.2:c.*566_*567del, NM_001682.2:c.*567del, NM_001682.2:c.*567dup, NM_001682.2:c.*566_*567dup, NM_001001323.2:c.*850_*853del, NM_001001323.2:c.*851_*853del, NM_001001323.2:c.*852_*853del, NM_001001323.2:c.*853del, NM_001001323.2:c.*853dup, NM_001001323.2:c.*852_*853dup, NM_001001323.1:c.*850_*853del, NM_001001323.1:c.*851_*853del, NM_001001323.1:c.*852_*853del, NM_001001323.1:c.*853del, NM_001001323.1:c.*853dup, NM_001001323.1:c.*852_*853dup, NM_001366522.1:c.*564_*567del, NM_001366522.1:c.*565_*567del, NM_001366522.1:c.*566_*567del, NM_001366522.1:c.*567del, NM_001366522.1:c.*567dup, NM_001366522.1:c.*566_*567dup, NM_001366523.1:c.*850_*853del, NM_001366523.1:c.*851_*853del, NM_001366523.1:c.*852_*853del, NM_001366523.1:c.*853del, NM_001366523.1:c.*853dup, NM_001366523.1:c.*852_*853dup, NM_001366527.1:c.*863_*866del, NM_001366527.1:c.*864_*866del, NM_001366527.1:c.*865_*866del, NM_001366527.1:c.*866del, NM_001366527.1:c.*866dup, NM_001366527.1:c.*865_*866dup, NM_001366520.1:c.*564_*567del, NM_001366520.1:c.*565_*567del, NM_001366520.1:c.*566_*567del, NM_001366520.1:c.*567del, NM_001366520.1:c.*567dup, NM_001366520.1:c.*566_*567dup, NM_001366525.1:c.*564_*567del, NM_001366525.1:c.*565_*567del, NM_001366525.1:c.*566_*567del, NM_001366525.1:c.*567del, NM_001366525.1:c.*567dup, NM_001366525.1:c.*566_*567dup, NM_001366526.1:c.*863_*866del, NM_001366526.1:c.*864_*866del, NM_001366526.1:c.*865_*866del, NM_001366526.1:c.*866del, NM_001366526.1:c.*866dup, NM_001366526.1:c.*865_*866dup, NM_001366521.1:c.*564_*567del, NM_001366521.1:c.*565_*567del, NM_001366521.1:c.*566_*567del, NM_001366521.1:c.*567del, NM_001366521.1:c.*567dup, NM_001366521.1:c.*566_*567dup, NM_001366524.1:c.*564_*567del, NM_001366524.1:c.*565_*567del, NM_001366524.1:c.*566_*567del, NM_001366524.1:c.*567del, NM_001366524.1:c.*567dup, NM_001366524.1:c.*566_*567dup, NM_001366528.1:c.*850_*853del, NM_001366528.1:c.*851_*853del, NM_001366528.1:c.*852_*853del, NM_001366528.1:c.*853del, NM_001366528.1:c.*853dup, NM_001366528.1:c.*852_*853dup, NM_001366529.1:c.*863_*866del, NM_001366529.1:c.*864_*866del, NM_001366529.1:c.*865_*866del, NM_001366529.1:c.*866del, NM_001366529.1:c.*866dup, NM_001366529.1:c.*865_*866dup, NM_001366530.1:c.*863_*866del, NM_001366530.1:c.*864_*866del, NM_001366530.1:c.*865_*866del, NM_001366530.1:c.*866del, NM_001366530.1:c.*866dup, NM_001366530.1:c.*865_*866dup, NM_001366532.1:c.*850_*853del, NM_001366532.1:c.*851_*853del, NM_001366532.1:c.*852_*853del, NM_001366532.1:c.*853del, NM_001366532.1:c.*853dup, NM_001366532.1:c.*852_*853dup, NM_001366531.1:c.*850_*853del, NM_001366531.1:c.*851_*853del, NM_001366531.1:c.*852_*853del, NM_001366531.1:c.*853del, NM_001366531.1:c.*853dup, NM_001366531.1:c.*852_*853dup, XM_017019357.3:c.*564_*567del, XM_017019357.3:c.*565_*567del, XM_017019357.3:c.*566_*567del, XM_017019357.3:c.*567del, XM_017019357.3:c.*567dup, XM_017019357.3:c.*566_*567dup, XM_017019357.2:c.*564_*567del, XM_017019357.2:c.*565_*567del, XM_017019357.2:c.*566_*567del, XM_017019357.2:c.*567del, XM_017019357.2:c.*567dup, XM_017019357.2:c.*566_*567dup, XM_017019357.1:c.*564_*567del, XM_017019357.1:c.*565_*567del, XM_017019357.1:c.*566_*567del, XM_017019357.1:c.*567del, XM_017019357.1:c.*567dup, XM_017019357.1:c.*566_*567dup, XM_024448993.2:c.*850_*853del, XM_024448993.2:c.*851_*853del, XM_024448993.2:c.*852_*853del, XM_024448993.2:c.*853del, XM_024448993.2:c.*853dup, XM_024448993.2:c.*852_*853dup, XM_024448993.1:c.*850_*853del, XM_024448993.1:c.*851_*853del, XM_024448993.1:c.*852_*853del, XM_024448993.1:c.*853del, XM_024448993.1:c.*853dup, XM_024448993.1:c.*852_*853dup, XM_024448991.2:c.*564_*567del, XM_024448991.2:c.*565_*567del, XM_024448991.2:c.*566_*567del, XM_024448991.2:c.*567del, XM_024448991.2:c.*567dup, XM_024448991.2:c.*566_*567dup, XM_024448991.1:c.*564_*567del, XM_024448991.1:c.*565_*567del, XM_024448991.1:c.*566_*567del, XM_024448991.1:c.*567del, XM_024448991.1:c.*567dup, XM_024448991.1:c.*566_*567dup, XM_047428889.1:c.*564_*567del, XM_047428889.1:c.*565_*567del, XM_047428889.1:c.*566_*567del, XM_047428889.1:c.*567del, XM_047428889.1:c.*567dup, XM_047428889.1:c.*566_*567dup, XM_047428897.1:c.*564_*567del, XM_047428897.1:c.*565_*567del, XM_047428897.1:c.*566_*567del, XM_047428897.1:c.*567del, XM_047428897.1:c.*567dup, XM_047428897.1:c.*566_*567dup, XM_047428894.1:c.*564_*567del, XM_047428894.1:c.*565_*567del, XM_047428894.1:c.*566_*567del, XM_047428894.1:c.*567del, XM_047428894.1:c.*567dup, XM_047428894.1:c.*566_*567dup, XM_047428892.1:c.*564_*567del, XM_047428892.1:c.*565_*567del, XM_047428892.1:c.*566_*567del, XM_047428892.1:c.*567del, XM_047428892.1:c.*567dup, XM_047428892.1:c.*566_*567dup, XM_047428890.1:c.*564_*567del, XM_047428890.1:c.*565_*567del, XM_047428890.1:c.*566_*567del, XM_047428890.1:c.*567del, XM_047428890.1:c.*567dup, XM_047428890.1:c.*566_*567dup, XM_047428893.1:c.*564_*567del, XM_047428893.1:c.*565_*567del, XM_047428893.1:c.*566_*567del, XM_047428893.1:c.*567del, XM_047428893.1:c.*567dup, XM_047428893.1:c.*566_*567dup, XM_047428895.1:c.*564_*567del, XM_047428895.1:c.*565_*567del, XM_047428895.1:c.*566_*567del, XM_047428895.1:c.*567del, XM_047428895.1:c.*567dup, XM_047428895.1:c.*566_*567dup, XM_047428891.1:c.*564_*567del, XM_047428891.1:c.*565_*567del, XM_047428891.1:c.*566_*567del, XM_047428891.1:c.*567del, XM_047428891.1:c.*567dup, XM_047428891.1:c.*566_*567dup, XM_047428896.1:c.*564_*567del, XM_047428896.1:c.*565_*567del, XM_047428896.1:c.*566_*567del, XM_047428896.1:c.*567del, XM_047428896.1:c.*567dup, XM_047428896.1:c.*566_*567dup, XM_047428898.1:c.*564_*567del, XM_047428898.1:c.*565_*567del, XM_047428898.1:c.*566_*567del, XM_047428898.1:c.*567del, XM_047428898.1:c.*567dup, XM_047428898.1:c.*566_*567dup, XM_047428899.1:c.*564_*567del, XM_047428899.1:c.*565_*567del, XM_047428899.1:c.*566_*567del, XM_047428899.1:c.*567del, XM_047428899.1:c.*567dup, XM_047428899.1:c.*566_*567dup

Select item 14913371079.

rs1491337107 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 12:89677954 (GRCh38)
12:90071731 (GRCh37)
Canonical SPDI:: NC_000012.12:89677953:TT:
Gene:: ATP2B1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000012.12:g.89677954_89677955del, NC_000012.11:g.90071731_90071732del, NG_029485.2:g.36399_36400del

Select item 149128689610.

rs1491286896 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 12:89627396 (GRCh38)
12:90021173 (GRCh37)
Canonical SPDI:: NC_000012.12:89627395:CA:
Gene:: ATP2B1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.001855/22 (ALFA)
-=0.00203/13 (1000Genomes)
-=0.00317/402 (GnomAD)
HGVS:: NC_000012.12:g.89627396_89627397del, NC_000012.11:g.90021173_90021174del, NG_029485.2:g.86957_86958del

Select item 149126291311.

rs1491262913 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 12:89625584 (GRCh38)
12:90019361 (GRCh37)
Canonical SPDI:: NC_000012.12:89625583:CA:
Gene:: ATP2B1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.02681/318 (ALFA)
-=0.00777/83 (GnomAD)
-=0.01466/233 (TOMMO)
HGVS:: NC_000012.12:g.89625584_89625585del, NC_000012.11:g.90019361_90019362del, NG_029485.2:g.88769_88770del

Select item 149123594512.

rs1491235945 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 12:89594606 (GRCh38)
12:89988383 (GRCh37)
Canonical SPDI:: NC_000012.12:89594604:ACA:A
Gene:: ATP2B1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000043/6 (GnomAD)
HGVS:: NC_000012.12:g.89594606_89594607del, NC_000012.11:g.89988383_89988384del, NG_029485.2:g.119748_119749del

Select item 149122803913.

rs1491228039 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 12:89681382 (GRCh38)
12:90075159 (GRCh37)
Canonical SPDI:: NC_000012.12:89681381:AT:
Gene:: ATP2B1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000061/8 (GnomAD)
HGVS:: NC_000012.12:g.89681382_89681383del, NC_000012.11:g.90075159_90075160del, NG_029485.2:g.32971_32972del

Select item 149120615214.

rs1491206152 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A,AA,CA,GAGAGAA,GATA [Show Flanks]
Chromosome:: 12:89658647 (GRCh38)
12:90052425 (GRCh37)
Canonical SPDI:: NC_000012.12:89658647:A:AA,NC_000012.12:89658647:A:AAA,NC_000012.12:89658647:A:ACA,NC_000012.12:89658647:A:AGAGAGAA,NC_000012.12:89658647:A:AGATA
Gene:: ATP2B1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
AA=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.89658648dup, NC_000012.12:g.89658648_89658649insAA, NC_000012.12:g.89658648_89658649insCA, NC_000012.12:g.89658648AG[3]AA[1], NC_000012.12:g.89658648_89658649insGATA, NC_000012.11:g.90052425dup, NC_000012.11:g.90052425_90052426insAA, NC_000012.11:g.90052425_90052426insCA, NC_000012.11:g.90052425AG[3]AA[1], NC_000012.11:g.90052425_90052426insGATA, NG_029485.2:g.55706dup, NG_029485.2:g.55706_55707insTT, NG_029485.2:g.55706_55707insGT, NG_029485.2:g.55706_55707insTCTCTCT, NG_029485.2:g.55706_55707insATCT

Select item 149119611715.

rs1491196117 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 12:89590416 (GRCh38)
12:89984193 (GRCh37)
Canonical SPDI:: NC_000012.12:89590415:CT:
Gene:: ATP2B1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.89590416_89590417del, NC_000012.11:g.89984193_89984194del, NG_029485.2:g.123937_123938del, NM_001682.3:c.*567_*568del, NM_001682.2:c.*567_*568del, NM_001001323.2:c.*853_*854del, NM_001001323.1:c.*853_*854del, NM_001366522.1:c.*567_*568del, NM_001366523.1:c.*853_*854del, NM_001366527.1:c.*866_*867del, NM_001366520.1:c.*567_*568del, NM_001366525.1:c.*567_*568del, NM_001366526.1:c.*866_*867del, NM_001366521.1:c.*567_*568del, NM_001366524.1:c.*567_*568del, NM_001366528.1:c.*853_*854del, NM_001366529.1:c.*866_*867del, NM_001366530.1:c.*866_*867del, NM_001366532.1:c.*853_*854del, NM_001366531.1:c.*853_*854del, XM_017019357.3:c.*567_*568del, XM_017019357.2:c.*567_*568del, XM_017019357.1:c.*567_*568del, XM_024448993.2:c.*853_*854del, XM_024448993.1:c.*853_*854del, XM_024448991.2:c.*567_*568del, XM_024448991.1:c.*567_*568del, XM_047428889.1:c.*567_*568del, XM_047428897.1:c.*567_*568del, XM_047428894.1:c.*567_*568del, XM_047428892.1:c.*567_*568del, XM_047428890.1:c.*567_*568del, XM_047428893.1:c.*567_*568del, XM_047428895.1:c.*567_*568del, XM_047428891.1:c.*567_*568del, XM_047428896.1:c.*567_*568del, XM_047428898.1:c.*567_*568del, XM_047428899.1:c.*567_*568del

Select item 149115782616.

rs1491157826 [Homo sapiens]

Variant type:: INS
Alleles:: ->T,TAT [Show Flanks]
Chromosome:: 12:89630771 (GRCh38)
12:90024549 (GRCh37)
Canonical SPDI:: NC_000012.12:89630771::T,NC_000012.12:89630771::TAT
Gene:: ATP2B1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000475/5 (GnomAD)
T=0.000625/4 (1000Genomes)
HGVS:: NC_000012.12:g.89630771_89630772insT, NC_000012.12:g.89630771_89630772insTAT, NC_000012.11:g.90024548_90024549insT, NC_000012.11:g.90024548_90024549insTAT, NG_029485.2:g.83582_83583insA, NG_029485.2:g.83582_83583insATA

Select item 149111610617.

rs1491116106 has merged into rs10648843 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACACACACAC>-,AC,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC [Show Flanks]
Chromosome:: 12:89659372 (GRCh38)
12:90053149 (GRCh37)
Canonical SPDI:: NC_000012.12:89659357:ACACACACACACACACACACACACAC:ACACACACACACAC,NC_000012.12:89659357:ACACACACACACACACACACACACAC:ACACACACACACACAC,NC_000012.12:89659357:ACACACACACACACACACACACACAC:ACACACACACACACACAC,NC_000012.12:89659357:ACACACACACACACACACACACACAC:ACACACACACACACACACAC,NC_000012.12:89659357:ACACACACACACACACACACACACAC:ACACACACACACACACACACAC,NC_000012.12:89659357:ACACACACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000012.12:89659357:ACACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC,NC_000012.12:89659357:ACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACAC,NC_000012.12:89659357:ACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACAC,NC_000012.12:89659357:ACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACAC,NC_000012.12:89659357:ACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACAC,NC_000012.12:89659357:ACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACAC,NC_000012.12:89659357:ACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:89659357:ACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACAC,NC_000012.12:89659357:ACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACAC
Gene:: ATP2B1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACAC=0./0 (ALFA)
-=0.1532/767 (1000Genomes)
HGVS:: NC_000012.12:g.89659358AC[7], NC_000012.12:g.89659358AC[8], NC_000012.12:g.89659358AC[9], NC_000012.12:g.89659358AC[10], NC_000012.12:g.89659358AC[11], NC_000012.12:g.89659358AC[12], NC_000012.12:g.89659358AC[14], NC_000012.12:g.89659358AC[15], NC_000012.12:g.89659358AC[16], NC_000012.12:g.89659358AC[17], NC_000012.12:g.89659358AC[18], NC_000012.12:g.89659358AC[19], NC_000012.12:g.89659358AC[20], NC_000012.12:g.89659358AC[21], NC_000012.12:g.89659358AC[24], NC_000012.11:g.90053135AC[7], NC_000012.11:g.90053135AC[8], NC_000012.11:g.90053135AC[9], NC_000012.11:g.90053135AC[10], NC_000012.11:g.90053135AC[11], NC_000012.11:g.90053135AC[12], NC_000012.11:g.90053135AC[14], NC_000012.11:g.90053135AC[15], NC_000012.11:g.90053135AC[16], NC_000012.11:g.90053135AC[17], NC_000012.11:g.90053135AC[18], NC_000012.11:g.90053135AC[19], NC_000012.11:g.90053135AC[20], NC_000012.11:g.90053135AC[21], NC_000012.11:g.90053135AC[24], NG_029485.2:g.54971GT[7], NG_029485.2:g.54971GT[8], NG_029485.2:g.54971GT[9], NG_029485.2:g.54971GT[10], NG_029485.2:g.54971GT[11], NG_029485.2:g.54971GT[12], NG_029485.2:g.54971GT[14], NG_029485.2:g.54971GT[15], NG_029485.2:g.54971GT[16], NG_029485.2:g.54971GT[17], NG_029485.2:g.54971GT[18], NG_029485.2:g.54971GT[19], NG_029485.2:g.54971GT[20], NG_029485.2:g.54971GT[21], NG_029485.2:g.54971GT[24]

Select item 149110943718.

rs1491109437 has merged into rs59737003 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 12:89627408 (GRCh38)
12:90021185 (GRCh37)
Canonical SPDI:: NC_000012.12:89627396:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:89627396:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:89627396:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:89627396:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:89627396:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:89627396:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:89627396:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:89627396:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:89627396:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:89627396:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:89627396:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:89627396:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:89627396:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:89627396:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:89627396:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ATP2B1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.33147/1660 (1000Genomes)
-=0.375/15 (GENOME_DK)
HGVS:: NC_000012.12:g.89627408_89627416del, NC_000012.12:g.89627409_89627416del, NC_000012.12:g.89627410_89627416del, NC_000012.12:g.89627411_89627416del, NC_000012.12:g.89627412_89627416del, NC_000012.12:g.89627413_89627416del, NC_000012.12:g.89627414_89627416del, NC_000012.12:g.89627415_89627416del, NC_000012.12:g.89627416del, NC_000012.12:g.89627416dup, NC_000012.12:g.89627415_89627416dup, NC_000012.12:g.89627414_89627416dup, NC_000012.12:g.89627410_89627416dup, NC_000012.12:g.89627409_89627416dup, NC_000012.12:g.89627400_89627416dup, NC_000012.11:g.90021185_90021193del, NC_000012.11:g.90021186_90021193del, NC_000012.11:g.90021187_90021193del, NC_000012.11:g.90021188_90021193del, NC_000012.11:g.90021189_90021193del, NC_000012.11:g.90021190_90021193del, NC_000012.11:g.90021191_90021193del, NC_000012.11:g.90021192_90021193del, NC_000012.11:g.90021193del, NC_000012.11:g.90021193dup, NC_000012.11:g.90021192_90021193dup, NC_000012.11:g.90021191_90021193dup, NC_000012.11:g.90021187_90021193dup, NC_000012.11:g.90021186_90021193dup, NC_000012.11:g.90021177_90021193dup, NG_029485.2:g.86949_86957del, NG_029485.2:g.86950_86957del, NG_029485.2:g.86951_86957del, NG_029485.2:g.86952_86957del, NG_029485.2:g.86953_86957del, NG_029485.2:g.86954_86957del, NG_029485.2:g.86955_86957del, NG_029485.2:g.86956_86957del, NG_029485.2:g.86957del, NG_029485.2:g.86957dup, NG_029485.2:g.86956_86957dup, NG_029485.2:g.86955_86957dup, NG_029485.2:g.86951_86957dup, NG_029485.2:g.86950_86957dup, NG_029485.2:g.86941_86957dup

Select item 149109425919.

rs1491094259 has merged into rs10560749 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,AAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 12:89625593 (GRCh38)
12:90019370 (GRCh37)
Canonical SPDI:: NC_000012.12:89625584:AAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000012.12:89625584:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:89625584:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:89625584:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:89625584:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:89625584:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:89625584:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:89625584:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:89625584:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:89625584:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:89625584:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:89625584:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:89625584:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:89625584:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:89625584:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:89625584:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:89625584:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:89625584:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:89625584:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:89625584:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:89625584:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:89625584:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:89625584:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:89625584:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:89625584:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ATP2B1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000012.12:g.89625593_89625604del, NC_000012.12:g.89625596_89625604del, NC_000012.12:g.89625599_89625604del, NC_000012.12:g.89625600_89625604del, NC_000012.12:g.89625601_89625604del, NC_000012.12:g.89625602_89625604del, NC_000012.12:g.89625603_89625604del, NC_000012.12:g.89625604del, NC_000012.12:g.89625604dup, NC_000012.12:g.89625603_89625604dup, NC_000012.12:g.89625602_89625604dup, NC_000012.12:g.89625601_89625604dup, NC_000012.12:g.89625600_89625604dup, NC_000012.12:g.89625599_89625604dup, NC_000012.12:g.89625597_89625604dup, NC_000012.12:g.89625596_89625604dup, NC_000012.12:g.89625595_89625604dup, NC_000012.12:g.89625594_89625604dup, NC_000012.12:g.89625589_89625604dup, NC_000012.12:g.89625588_89625604dup, NC_000012.12:g.89625587_89625604dup, NC_000012.12:g.89625604_89625605insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.89625604_89625605insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.89625604_89625605insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.89625604_89625605insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.90019370_90019381del, NC_000012.11:g.90019373_90019381del, NC_000012.11:g.90019376_90019381del, NC_000012.11:g.90019377_90019381del, NC_000012.11:g.90019378_90019381del, NC_000012.11:g.90019379_90019381del, NC_000012.11:g.90019380_90019381del, NC_000012.11:g.90019381del, NC_000012.11:g.90019381dup, NC_000012.11:g.90019380_90019381dup, NC_000012.11:g.90019379_90019381dup, NC_000012.11:g.90019378_90019381dup, NC_000012.11:g.90019377_90019381dup, NC_000012.11:g.90019376_90019381dup, NC_000012.11:g.90019374_90019381dup, NC_000012.11:g.90019373_90019381dup, NC_000012.11:g.90019372_90019381dup, NC_000012.11:g.90019371_90019381dup, NC_000012.11:g.90019366_90019381dup, NC_000012.11:g.90019365_90019381dup, NC_000012.11:g.90019364_90019381dup, NC_000012.11:g.90019381_90019382insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.90019381_90019382insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.90019381_90019382insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.90019381_90019382insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_029485.2:g.88758_88769del, NG_029485.2:g.88761_88769del, NG_029485.2:g.88764_88769del, NG_029485.2:g.88765_88769del, NG_029485.2:g.88766_88769del, NG_029485.2:g.88767_88769del, NG_029485.2:g.88768_88769del, NG_029485.2:g.88769del, NG_029485.2:g.88769dup, NG_029485.2:g.88768_88769dup, NG_029485.2:g.88767_88769dup, NG_029485.2:g.88766_88769dup, NG_029485.2:g.88765_88769dup, NG_029485.2:g.88764_88769dup, NG_029485.2:g.88762_88769dup, NG_029485.2:g.88761_88769dup, NG_029485.2:g.88760_88769dup, NG_029485.2:g.88759_88769dup, NG_029485.2:g.88754_88769dup, NG_029485.2:g.88753_88769dup, NG_029485.2:g.88752_88769dup, NG_029485.2:g.88769_88770insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029485.2:g.88769_88770insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029485.2:g.88769_88770insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029485.2:g.88769_88770insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149106062520.

rs1491060625 has merged into rs34709694 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,T,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT [Show Flanks]
Chromosome:: 12:89700026 (GRCh38)
12:90093803 (GRCh37)
Canonical SPDI:: NC_000012.12:89700012:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:89700012:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:89700012:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:89700012:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:89700012:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:89700012:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:89700012:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:89700012:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:89700012:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ATP2B1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000012.12:g.89700026_89700033del, NC_000012.12:g.89700027_89700033del, NC_000012.12:g.89700030_89700033del, NC_000012.12:g.89700031_89700033del, NC_000012.12:g.89700032_89700033del, NC_000012.12:g.89700033del, NC_000012.12:g.89700033dup, NC_000012.12:g.89700032_89700033dup, NC_000012.12:g.89700031_89700033dup, NC_000012.11:g.90093803_90093810del, NC_000012.11:g.90093804_90093810del, NC_000012.11:g.90093807_90093810del, NC_000012.11:g.90093808_90093810del, NC_000012.11:g.90093809_90093810del, NC_000012.11:g.90093810del, NC_000012.11:g.90093810dup, NC_000012.11:g.90093809_90093810dup, NC_000012.11:g.90093808_90093810dup, NG_029485.2:g.14334_14341del, NG_029485.2:g.14335_14341del, NG_029485.2:g.14338_14341del, NG_029485.2:g.14339_14341del, NG_029485.2:g.14340_14341del, NG_029485.2:g.14341del, NG_029485.2:g.14341dup, NG_029485.2:g.14340_14341dup, NG_029485.2:g.14339_14341dup

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