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Select item 14915514681.

rs1491551468 has merged into rs112709297 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:160122433 (GRCh38)
1:160092223 (GRCh37)
Canonical SPDI:: NC_000001.11:160122420:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:160122420:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:160122420:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:160122420:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:160122420:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:160122420:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:160122420:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:160122420:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:160122420:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:160122420:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:160122420:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:160122420:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:160122420:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ATP1A2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.160122433_160122435del, NC_000001.11:g.160122434_160122435del, NC_000001.11:g.160122435del, NC_000001.11:g.160122435dup, NC_000001.11:g.160122434_160122435dup, NC_000001.11:g.160122433_160122435dup, NC_000001.11:g.160122432_160122435dup, NC_000001.11:g.160122431_160122435dup, NC_000001.11:g.160122430_160122435dup, NC_000001.11:g.160122428_160122435dup, NC_000001.11:g.160122427_160122435dup, NC_000001.11:g.160122426_160122435dup, NC_000001.11:g.160122422_160122435dup, NC_000001.10:g.160092223_160092225del, NC_000001.10:g.160092224_160092225del, NC_000001.10:g.160092225del, NC_000001.10:g.160092225dup, NC_000001.10:g.160092224_160092225dup, NC_000001.10:g.160092223_160092225dup, NC_000001.10:g.160092222_160092225dup, NC_000001.10:g.160092221_160092225dup, NC_000001.10:g.160092220_160092225dup, NC_000001.10:g.160092218_160092225dup, NC_000001.10:g.160092217_160092225dup, NC_000001.10:g.160092216_160092225dup, NC_000001.10:g.160092212_160092225dup, NG_008014.1:g.11676_11678del, NG_008014.1:g.11677_11678del, NG_008014.1:g.11678del, NG_008014.1:g.11678dup, NG_008014.1:g.11677_11678dup, NG_008014.1:g.11676_11678dup, NG_008014.1:g.11675_11678dup, NG_008014.1:g.11674_11678dup, NG_008014.1:g.11673_11678dup, NG_008014.1:g.11671_11678dup, NG_008014.1:g.11670_11678dup, NG_008014.1:g.11669_11678dup, NG_008014.1:g.11665_11678dup

Select item 14914422282.

rs1491442228 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 1:160134253 (GRCh38)
1:160104043 (GRCh37)
Canonical SPDI:: NC_000001.11:160134252:AT:
Gene:: ATP1A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00034/4 (ALFA)
HGVS:: NC_000001.11:g.160134253_160134254del, NC_000001.10:g.160104043_160104044del, NG_008014.1:g.23496_23497del

Select item 14913885973.

rs1491388597 has merged into rs11331051 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,C,CCC,CCCC,CCCCC [Show Flanks]
Chromosome:: 1:160116550 (GRCh38)
1:160086340 (GRCh37)
Canonical SPDI:: NC_000001.11:160116541:CCCCCCCCCC:CCCCCCCC,NC_000001.11:160116541:CCCCCCCCCC:CCCCCCCCC,NC_000001.11:160116541:CCCCCCCCCC:CCCCCCCCCCC,NC_000001.11:160116541:CCCCCCCCCC:CCCCCCCCCCCC,NC_000001.11:160116541:CCCCCCCCCC:CCCCCCCCCCCCC
Gene:: ATP1A2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCCCCCC=0./0 (ALFA)
C=0.00027/1 (TWINSUK)
C=0.002076/8 (ALSPAC)
C=0.078428/20759 (TOPMED)
HGVS:: NC_000001.11:g.160116550_160116551del, NC_000001.11:g.160116551del, NC_000001.11:g.160116551dup, NC_000001.11:g.160116550_160116551dup, NC_000001.11:g.160116549_160116551dup, NC_000001.10:g.160086340_160086341del, NC_000001.10:g.160086341del, NC_000001.10:g.160086341dup, NC_000001.10:g.160086340_160086341dup, NC_000001.10:g.160086339_160086341dup, NG_008014.1:g.5793_5794del, NG_008014.1:g.5794del, NG_008014.1:g.5794dup, NG_008014.1:g.5793_5794dup, NG_008014.1:g.5792_5794dup

Select item 14913654774.

rs1491365477 has merged into rs11331051 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,C,CCC,CCCC,CCCCC [Show Flanks]
Chromosome:: 1:160116550 (GRCh38)
1:160086340 (GRCh37)
Canonical SPDI:: NC_000001.11:160116541:CCCCCCCCCC:CCCCCCCC,NC_000001.11:160116541:CCCCCCCCCC:CCCCCCCCC,NC_000001.11:160116541:CCCCCCCCCC:CCCCCCCCCCC,NC_000001.11:160116541:CCCCCCCCCC:CCCCCCCCCCCC,NC_000001.11:160116541:CCCCCCCCCC:CCCCCCCCCCCCC
Gene:: ATP1A2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCCCCCC=0./0 (ALFA)
C=0.00027/1 (TWINSUK)
C=0.002076/8 (ALSPAC)
C=0.078428/20759 (TOPMED)
HGVS:: NC_000001.11:g.160116550_160116551del, NC_000001.11:g.160116551del, NC_000001.11:g.160116551dup, NC_000001.11:g.160116550_160116551dup, NC_000001.11:g.160116549_160116551dup, NC_000001.10:g.160086340_160086341del, NC_000001.10:g.160086341del, NC_000001.10:g.160086341dup, NC_000001.10:g.160086340_160086341dup, NC_000001.10:g.160086339_160086341dup, NG_008014.1:g.5793_5794del, NG_008014.1:g.5794del, NG_008014.1:g.5794dup, NG_008014.1:g.5793_5794dup, NG_008014.1:g.5792_5794dup

Select item 14913626355.

rs1491362635 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 1:160122419 (GRCh38)
1:160092209 (GRCh37)
Canonical SPDI:: NC_000001.11:160122418:TG:
Gene:: ATP1A2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00068/11 (ALFA)
-=0.10814/401 (TWINSUK)
-=0.10924/421 (ALSPAC)
HGVS:: NC_000001.11:g.160122419_160122420del, NC_000001.10:g.160092209_160092210del, NG_008014.1:g.11662_11663del

Select item 14913348876.

rs1491334887 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 1:160116542 (GRCh38)
1:160086333 (GRCh37)
Canonical SPDI:: NC_000001.11:160116542::T
Gene:: ATP1A2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.160116542_160116543insT, NC_000001.10:g.160086332_160086333insT, NG_008014.1:g.5785_5786insT

Select item 14913166987.

rs1491316698 has merged into rs146388527 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACA>-,CA,CACA,CACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA [Show Flanks]
Chromosome:: 1:160134246 (GRCh38)
1:160104036 (GRCh37)
Canonical SPDI:: NC_000001.11:160134235:CACACACACACACACACA:CACACACACA,NC_000001.11:160134235:CACACACACACACACACA:CACACACACACA,NC_000001.11:160134235:CACACACACACACACACA:CACACACACACACA,NC_000001.11:160134235:CACACACACACACACACA:CACACACACACACACA,NC_000001.11:160134235:CACACACACACACACACA:CACACACACACACACACACA,NC_000001.11:160134235:CACACACACACACACACA:CACACACACACACACACACACA,NC_000001.11:160134235:CACACACACACACACACA:CACACACACACACACACACACACA,NC_000001.11:160134235:CACACACACACACACACA:CACACACACACACACACACACACACA,NC_000001.11:160134235:CACACACACACACACACA:CACACACACACACACACACACACACACA
Gene:: ATP1A2 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACA=0./0 (ALFA)
-=0.4756/2382 (1000Genomes)
HGVS:: NC_000001.11:g.160134236CA[5], NC_000001.11:g.160134236CA[6], NC_000001.11:g.160134236CA[7], NC_000001.11:g.160134236CA[8], NC_000001.11:g.160134236CA[10], NC_000001.11:g.160134236CA[11], NC_000001.11:g.160134236CA[12], NC_000001.11:g.160134236CA[13], NC_000001.11:g.160134236CA[14], NC_000001.10:g.160104026CA[5], NC_000001.10:g.160104026CA[6], NC_000001.10:g.160104026CA[7], NC_000001.10:g.160104026CA[8], NC_000001.10:g.160104026CA[10], NC_000001.10:g.160104026CA[11], NC_000001.10:g.160104026CA[12], NC_000001.10:g.160104026CA[13], NC_000001.10:g.160104026CA[14], NG_008014.1:g.23479CA[5], NG_008014.1:g.23479CA[6], NG_008014.1:g.23479CA[7], NG_008014.1:g.23479CA[8], NG_008014.1:g.23479CA[10], NG_008014.1:g.23479CA[11], NG_008014.1:g.23479CA[12], NG_008014.1:g.23479CA[13], NG_008014.1:g.23479CA[14]

Select item 14912904828.

rs1491290482 has merged into rs1198117782 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>-,CACA [Show Flanks]
Chromosome:: 1:160134086 (GRCh38)
1:160103876 (GRCh37)
Canonical SPDI:: NC_000001.11:160134077:CACACACACA:CACACACA,NC_000001.11:160134077:CACACACACA:CACACACACACA
Gene:: ATP1A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.160134078CA[4], NC_000001.11:g.160134078CA[6], NC_000001.10:g.160103868CA[4], NC_000001.10:g.160103868CA[6], NG_008014.1:g.23321CA[4], NG_008014.1:g.23321CA[6]

Select item 14912818529.

rs1491281852 [Homo sapiens]

Variant type:: INS
Alleles:: ->CACACC,CACACG,CC [Show Flanks]
Chromosome:: 1:160134253 (GRCh38)
1:160104044 (GRCh37)
Canonical SPDI:: NC_000001.11:160134253::CACACC,NC_000001.11:160134253::CACACG,NC_000001.11:160134253::CC
Gene:: ATP1A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACG=0./0 (ALFA)
CACACG=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.160134253_160134254insCACACC, NC_000001.11:g.160134253_160134254insCACACG, NC_000001.11:g.160134253_160134254insCC, NC_000001.10:g.160104043_160104044insCACACC, NC_000001.10:g.160104043_160104044insCACACG, NC_000001.10:g.160104043_160104044insCC, NG_008014.1:g.23496_23497insCACACC, NG_008014.1:g.23496_23497insCACACG, NG_008014.1:g.23496_23497insCC

Select item 149118103810.

rs1491181038 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TA [Show Flanks]
Chromosome:: 1:160134078 (GRCh38)
1:160103869 (GRCh37)
Canonical SPDI:: NC_000001.11:160134078:A:ATA
Gene:: ATP1A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ATA=0./0 (ALFA)
HGVS:: NC_000001.11:g.160134079_160134080insTA, NC_000001.10:g.160103869_160103870insTA, NG_008014.1:g.23322_23323insTA

Select item 149115683911.

rs1491156839 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,G [Show Flanks]
Chromosome:: 1:160116548 (GRCh38)
1:160086339 (GRCh37)
Canonical SPDI:: NC_000001.11:160116548::A,NC_000001.11:160116548::G
Gene:: ATP1A2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000029/4 (GnomAD)
HGVS:: NC_000001.11:g.160116548_160116549insA, NC_000001.11:g.160116548_160116549insG, NC_000001.10:g.160086338_160086339insA, NC_000001.10:g.160086338_160086339insG, NG_008014.1:g.5791_5792insA, NG_008014.1:g.5791_5792insG

Select item 149111158112.

rs1491111581 has merged into rs146388527 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACA>-,CA,CACA,CACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA [Show Flanks]
Chromosome:: 1:160134246 (GRCh38)
1:160104036 (GRCh37)
Canonical SPDI:: NC_000001.11:160134235:CACACACACACACACACA:CACACACACA,NC_000001.11:160134235:CACACACACACACACACA:CACACACACACA,NC_000001.11:160134235:CACACACACACACACACA:CACACACACACACA,NC_000001.11:160134235:CACACACACACACACACA:CACACACACACACACA,NC_000001.11:160134235:CACACACACACACACACA:CACACACACACACACACACA,NC_000001.11:160134235:CACACACACACACACACA:CACACACACACACACACACACA,NC_000001.11:160134235:CACACACACACACACACA:CACACACACACACACACACACACA,NC_000001.11:160134235:CACACACACACACACACA:CACACACACACACACACACACACACA,NC_000001.11:160134235:CACACACACACACACACA:CACACACACACACACACACACACACACA
Gene:: ATP1A2 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACA=0./0 (ALFA)
-=0.4756/2382 (1000Genomes)
HGVS:: NC_000001.11:g.160134236CA[5], NC_000001.11:g.160134236CA[6], NC_000001.11:g.160134236CA[7], NC_000001.11:g.160134236CA[8], NC_000001.11:g.160134236CA[10], NC_000001.11:g.160134236CA[11], NC_000001.11:g.160134236CA[12], NC_000001.11:g.160134236CA[13], NC_000001.11:g.160134236CA[14], NC_000001.10:g.160104026CA[5], NC_000001.10:g.160104026CA[6], NC_000001.10:g.160104026CA[7], NC_000001.10:g.160104026CA[8], NC_000001.10:g.160104026CA[10], NC_000001.10:g.160104026CA[11], NC_000001.10:g.160104026CA[12], NC_000001.10:g.160104026CA[13], NC_000001.10:g.160104026CA[14], NG_008014.1:g.23479CA[5], NG_008014.1:g.23479CA[6], NG_008014.1:g.23479CA[7], NG_008014.1:g.23479CA[8], NG_008014.1:g.23479CA[10], NG_008014.1:g.23479CA[11], NG_008014.1:g.23479CA[12], NG_008014.1:g.23479CA[13], NG_008014.1:g.23479CA[14]

Select item 149100936713.

rs1491009367 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 1:160134144 (GRCh38)
1:160103934 (GRCh37)
Canonical SPDI:: NC_000001.11:160134142:ATA:A
Gene:: ATP1A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000184/3 (ALFA)
-=0.000141/19 (GnomAD)
-=0.000543/9 (TOMMO)
HGVS:: NC_000001.11:g.160134144_160134145del, NC_000001.10:g.160103934_160103935del, NG_008014.1:g.23387_23388del

Select item 149099866514.

rs1490998665 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:160129302 (GRCh38)
1:160099092 (GRCh37)
Canonical SPDI:: NC_000001.11:160129301:C:A
Gene:: ATP1A2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: A=0.000051/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.160129302C>A, NC_000001.10:g.160099092C>A, NG_008014.1:g.18545C>A, NM_000702.4:c.1363C>A, NM_000702.3:c.1363C>A, XM_047421286.1:c.472C>A, NP_000693.1:p.Leu455Ile, XP_047277242.1:p.Leu158Ile

Select item 149067839915.

rs1490678399 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:160128957 (GRCh38)
1:160098747 (GRCh37)
Canonical SPDI:: NC_000001.11:160128956:G:A
Gene:: ATP1A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000005/1 (GnomAD_exomes)
A=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.160128957G>A, NC_000001.10:g.160098747G>A, NG_008014.1:g.18200G>A

Select item 149065393616.

rs1490653936 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:160117768 (GRCh38)
1:160087558 (GRCh37)
Canonical SPDI:: NC_000001.11:160117767:C:G,NC_000001.11:160117767:C:T
Gene:: ATP1A2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000036/5 (GnomAD)
T=0.00006/1 (TOMMO)
HGVS:: NC_000001.11:g.160117768C>G, NC_000001.11:g.160117768C>T, NC_000001.10:g.160087558C>G, NC_000001.10:g.160087558C>T, NG_008014.1:g.7011C>G, NG_008014.1:g.7011C>T

Select item 149007128217.

rs1490071282 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:160136157 (GRCh38)
1:160105947 (GRCh37)
Canonical SPDI:: NC_000001.11:160136156:C:T
Gene:: ATP1A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.160136157C>T, NC_000001.10:g.160105947C>T, NG_008014.1:g.25400C>T

Select item 149001615718.

rs1490016157 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:160134442 (GRCh38)
1:160104232 (GRCh37)
Canonical SPDI:: NC_000001.11:160134441:C:G
Gene:: ATP1A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000001.11:g.160134442C>G, NC_000001.10:g.160104232C>G, NG_008014.1:g.23685C>G

Select item 148997372819.

rs1489973728 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:160126028 (GRCh38)
1:160095818 (GRCh37)
Canonical SPDI:: NC_000001.11:160126027:T:C
Gene:: ATP1A2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000001.11:g.160126028T>C, NC_000001.10:g.160095818T>C, NG_008014.1:g.15271T>C

Select item 148976124920.

rs1489761249 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:160125922 (GRCh38)
1:160095712 (GRCh37)
Canonical SPDI:: NC_000001.11:160125921:C:G
Gene:: ATP1A2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.160125922C>G, NC_000001.10:g.160095712C>G, NG_008014.1:g.15165C>G

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