SNP Links for Gene (Select 100289092) - SNP

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Select item 14912250451.

rs1491225045 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 16:28879603 (GRCh38)
16:28890924 (GRCh37)
Canonical SPDI:: NC_000016.10:28879602:TG:
Gene:: ATP2A1 (Varview), ATP2A1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.28879603_28879604del, NC_000016.9:g.28890924_28890925del, NG_023327.1:g.6116_6117del, NR_046287.1:n.318_319del, NR_046288.1:n.318_319del, NR_046289.1:n.318_319del, NR_046290.1:n.318_319del

Select item 14907312202.

rs1490731220 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:28879371 (GRCh38)
16:28890692 (GRCh37)
Canonical SPDI:: NC_000016.10:28879370:C:G,NC_000016.10:28879370:C:T
Gene:: ATP2A1 (Varview), ATP2A1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.28879371C>G, NC_000016.10:g.28879371C>T, NC_000016.9:g.28890692C>G, NC_000016.9:g.28890692C>T, NG_023327.1:g.5884C>G, NG_023327.1:g.5884C>T

Select item 14902413453.

rs1490241345 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:28879750 (GRCh38)
16:28891071 (GRCh37)
Canonical SPDI:: NC_000016.10:28879749:C:T
Gene:: ATP2A1 (Varview), ATP2A1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000343/1 (KOREAN)
T=0.001592/27 (TOMMO)
HGVS:: NC_000016.10:g.28879750C>T, NC_000016.9:g.28891071C>T, NG_023327.1:g.6263C>T, NR_046287.1:n.172G>A, NR_046288.1:n.172G>A, NR_046289.1:n.172G>A, NR_046290.1:n.172G>A

Select item 14891094594.

rs1489109459 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:28881189 (GRCh38)
16:28892510 (GRCh37)
Canonical SPDI:: NC_000016.10:28881188:C:T
Gene:: ATP2A1 (Varview), ATP2A1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.28881189C>T, NC_000016.9:g.28892510C>T, NG_023327.1:g.7702C>T

Select item 14883026705.

rs1488302670 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGCCTCCTCCCCC [Show Flanks]
Chromosome:: 16:28879485 (GRCh38)
16:28890807 (GRCh37)
Canonical SPDI:: NC_000016.10:28879485:TGCCTCCTCCCCC:TGCCTCCTCCCCCTGCCTCCTCCCCC
Gene:: ATP2A1 (Varview), ATP2A1-AS1 (Varview)
Functional Consequence:: intron_variant,splice_donor_variant,genic_upstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGCCTCCTCCCCCTGCCTCCTCCCCC=0./0 (ALFA)
TGCCTCCTCCCCC=0.000004/1 (TOPMED)
TGCCTCCTCCCCC=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.28879486_28879498dup, NC_000016.9:g.28890807_28890819dup, NG_023327.1:g.5999_6011dup

Select item 14873225106.

rs1487322510 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 16:28879869 (GRCh38)
16:28891190 (GRCh37)
Canonical SPDI:: NC_000016.10:28879868:G:C,NC_000016.10:28879868:G:T
Gene:: ATP2A1 (Varview), ATP2A1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.28879869G>C, NC_000016.10:g.28879869G>T, NC_000016.9:g.28891190G>C, NC_000016.9:g.28891190G>T, NG_023327.1:g.6382G>C, NG_023327.1:g.6382G>T, NR_046287.1:n.53C>G, NR_046287.1:n.53C>A, NR_046288.1:n.53C>G, NR_046288.1:n.53C>A, NR_046289.1:n.53C>G, NR_046289.1:n.53C>A, NR_046290.1:n.53C>G, NR_046290.1:n.53C>A

Select item 14867979557.

rs1486797955 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:28878747 (GRCh38)
16:28890068 (GRCh37)
Canonical SPDI:: NC_000016.10:28878746:C:T
Gene:: ATP2A1 (Varview), ATP2A1-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000016.10:g.28878747C>T, NC_000016.9:g.28890068C>T, NG_023327.1:g.5260C>T, NM_004320.6:c.76C>T, NM_004320.5:c.76C>T, NM_004320.4:c.76C>T, NM_173201.5:c.76C>T, NM_173201.4:c.76C>T, NM_173201.3:c.76C>T, NP_004311.1:p.Pro26Ser, NP_775293.1:p.Pro26Ser

Select item 14858166328.

rs1485816632 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:28878512 (GRCh38)
16:28889833 (GRCh37)
Canonical SPDI:: NC_000016.10:28878511:G:T
Gene:: ATP2A1 (Varview), ATP2A1-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.28878512G>T, NC_000016.9:g.28889833G>T, NG_023327.1:g.5025G>T, NM_004320.6:c.-160G>T, NM_004320.5:c.-160G>T, NM_004320.4:c.-160G>T, NM_173201.5:c.-160G>T, NM_173201.4:c.-160G>T, NM_173201.3:c.-160G>T

Select item 14851145319.

rs1485114531 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:28881566 (GRCh38)
16:28892887 (GRCh37)
Canonical SPDI:: NC_000016.10:28881565:C:G,NC_000016.10:28881565:C:T
Gene:: ATP2A1 (Varview), ATP2A1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.28881566C>G, NC_000016.10:g.28881566C>T, NC_000016.9:g.28892887C>G, NC_000016.9:g.28892887C>T, NG_023327.1:g.8079C>G, NG_023327.1:g.8079C>T

Select item 148319850210.

rs1483198502 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 16:28879898 (GRCh38)
16:28891219 (GRCh37)
Canonical SPDI:: NC_000016.10:28879897:G:A,NC_000016.10:28879897:G:C
Gene:: ATP2A1 (Varview), ATP2A1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.28879898G>A, NC_000016.10:g.28879898G>C, NC_000016.9:g.28891219G>A, NC_000016.9:g.28891219G>C, NG_023327.1:g.6411G>A, NG_023327.1:g.6411G>C, NR_046287.1:n.24C>T, NR_046287.1:n.24C>G, NR_046288.1:n.24C>T, NR_046288.1:n.24C>G, NR_046289.1:n.24C>T, NR_046289.1:n.24C>G, NR_046290.1:n.24C>T, NR_046290.1:n.24C>G

Select item 148150971411.

rs1481509714 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 16:28880900 (GRCh38)
16:28892222 (GRCh37)
Canonical SPDI:: NC_000016.10:28880900:CCCC:CCCCC
Gene:: ATP2A1 (Varview), ATP2A1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.28880904dup, NC_000016.9:g.28892225dup, NG_023327.1:g.7417dup

Select item 148139140612.

rs1481391406 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:28879716 (GRCh38)
16:28891037 (GRCh37)
Canonical SPDI:: NC_000016.10:28879715:C:G,NC_000016.10:28879715:C:T
Gene:: ATP2A1 (Varview), ATP2A1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.28879716C>G, NC_000016.10:g.28879716C>T, NC_000016.9:g.28891037C>G, NC_000016.9:g.28891037C>T, NG_023327.1:g.6229C>G, NG_023327.1:g.6229C>T, NR_046287.1:n.206G>C, NR_046287.1:n.206G>A, NR_046288.1:n.206G>C, NR_046288.1:n.206G>A, NR_046289.1:n.206G>C, NR_046289.1:n.206G>A, NR_046290.1:n.206G>C, NR_046290.1:n.206G>A

Select item 148118720013.

rs1481187200 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 16:28880186 (GRCh38)
16:28891507 (GRCh37)
Canonical SPDI:: NC_000016.10:28880185:T:G
Gene:: ATP2A1 (Varview), ATP2A1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.28880186T>G, NC_000016.9:g.28891507T>G, NG_023327.1:g.6699T>G

Select item 148027124214.

rs1480271242 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:28879858 (GRCh38)
16:28891179 (GRCh37)
Canonical SPDI:: NC_000016.10:28879857:G:A
Gene:: ATP2A1 (Varview), ATP2A1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.28879858G>A, NC_000016.9:g.28891179G>A, NG_023327.1:g.6371G>A, NR_046287.1:n.64C>T, NR_046288.1:n.64C>T, NR_046289.1:n.64C>T, NR_046290.1:n.64C>T

Select item 148020419315.

rs1480204193 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:28880546 (GRCh38)
16:28891867 (GRCh37)
Canonical SPDI:: NC_000016.10:28880545:C:T
Gene:: ATP2A1 (Varview), ATP2A1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.28880546C>T, NC_000016.9:g.28891867C>T, NG_023327.1:g.7059C>T

Select item 148015230616.

rs1480152306 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AA [Show Flanks]
Chromosome:: 16:28881800 (GRCh38)
16:28893122 (GRCh37)
Canonical SPDI:: NC_000016.10:28881800::A,NC_000016.10:28881800::AA
Gene:: ATP2A1 (Varview), ATP2A1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.00042/7 (TOMMO)
HGVS:: NC_000016.10:g.28881800_28881801insA, NC_000016.10:g.28881800_28881801insAA, NC_000016.9:g.28893121_28893122insA, NC_000016.9:g.28893121_28893122insAA, NG_023327.1:g.8313_8314insA, NG_023327.1:g.8313_8314insAA

Select item 147831559317.

rs1478315593 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:28878733 (GRCh38)
16:28890054 (GRCh37)
Canonical SPDI:: NC_000016.10:28878732:C:T
Gene:: ATP2A1 (Varview), ATP2A1-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.28878733C>T, NC_000016.9:g.28890054C>T, NG_023327.1:g.5246C>T, NM_004320.6:c.62C>T, NM_004320.5:c.62C>T, NM_004320.4:c.62C>T, NM_173201.5:c.62C>T, NM_173201.4:c.62C>T, NM_173201.3:c.62C>T, NP_004311.1:p.Thr21Ile, NP_775293.1:p.Thr21Ile

Select item 147825289518.

rs1478252895 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 16:28879041 (GRCh38)
16:28890362 (GRCh37)
Canonical SPDI:: NC_000016.10:28879040:GGGGGG:GGGGG,NC_000016.10:28879040:GGGGGG:GGGGGGG
Gene:: ATP2A1 (Varview), ATP2A1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: GGGGGGG=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.28879046del, NC_000016.10:g.28879046dup, NC_000016.9:g.28890367del, NC_000016.9:g.28890367dup, NG_023327.1:g.5559del, NG_023327.1:g.5559dup, NR_046287.1:n.500del, NR_046287.1:n.500dup, NR_046288.1:n.497del, NR_046288.1:n.497dup, NR_046289.1:n.447del, NR_046289.1:n.447dup, NR_046290.1:n.444del, NR_046290.1:n.444dup

Select item 147759900519.

rs1477599005 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:28878513 (GRCh38)
16:28889834 (GRCh37)
Canonical SPDI:: NC_000016.10:28878512:G:A
Gene:: ATP2A1 (Varview), ATP2A1-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.28878513G>A, NC_000016.9:g.28889834G>A, NG_023327.1:g.5026G>A, NM_004320.6:c.-159G>A, NM_004320.5:c.-159G>A, NM_004320.4:c.-159G>A, NM_173201.5:c.-159G>A, NM_173201.4:c.-159G>A, NM_173201.3:c.-159G>A

Select item 147737235820.

rs1477372358 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:28879465 (GRCh38)
16:28890786 (GRCh37)
Canonical SPDI:: NC_000016.10:28879464:C:T
Gene:: ATP2A1 (Varview), ATP2A1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.28879465C>T, NC_000016.9:g.28890786C>T, NG_023327.1:g.5978C>T

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