SNP Links for Gene (Select 489) - SNP

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Select item 14915377871.

rs1491537787 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACACACACACGCGC,ACACACACGCGC,ACACACACGCGCGC,ACACACGCGC,ACACACGCGCGC,ACACGCGCGC,ACGCGCGC [Show Flanks]
Chromosome:: 17:3936754 (GRCh38)
17:3840049 (GRCh37)
Canonical SPDI:: NC_000017.11:3936754:C:CACACACACACGCGC,NC_000017.11:3936754:C:CACACACACGCGC,NC_000017.11:3936754:C:CACACACACGCGCGC,NC_000017.11:3936754:C:CACACACGCGC,NC_000017.11:3936754:C:CACACACGCGCGC,NC_000017.11:3936754:C:CACACGCGCGC,NC_000017.11:3936754:C:CACGCGCGC
Gene:: ATP2A3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: CACACACACGCGC=0./0 (ALFA)
HGVS:: NC_000017.11:g.3936755CA[5]CG[2]C[1], NC_000017.11:g.3936755CA[4]CG[2]C[1], NC_000017.11:g.3936755CA[4]CG[3]C[1], NC_000017.11:g.3936755CA[3]CG[2]C[1], NC_000017.11:g.3936755CA[3]CG[3]C[1], NC_000017.11:g.3936755CA[2]CG[3]C[1], NC_000017.11:g.3936755_3936756insACGCGCGC, NC_000017.10:g.3840049CA[5]CG[2]C[1], NC_000017.10:g.3840049CA[4]CG[2]C[1], NC_000017.10:g.3840049CA[4]CG[3]C[1], NC_000017.10:g.3840049CA[3]CG[2]C[1], NC_000017.10:g.3840049CA[3]CG[3]C[1], NC_000017.10:g.3840049CA[2]CG[3]C[1], NC_000017.10:g.3840049_3840050insACGCGCGC, NG_029041.1:g.32688GC[2]GT[5]G[1], NG_029041.1:g.32688GC[2]GT[4]G[1], NG_029041.1:g.32688GC[3]GT[4]G[1], NG_029041.1:g.32688GC[2]GT[3]G[1], NG_029041.1:g.32688GC[3]GT[3]G[1], NG_029041.1:g.32688GC[3]GT[2]G[1], NG_029041.1:g.32688GC[3]GTG[1]

Select item 14915143212.

rs1491514321 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->GATCTCCT
Chromosome:: no mapping
Canonical SPDI:

Select item 14914777123.

rs1491477712 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 17:3936721 (GRCh38)
17:3840015 (GRCh37)
Canonical SPDI:: NC_000017.11:3936720:TA:
Gene:: ATP2A3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000105/11 (GnomAD)
HGVS:: NC_000017.11:g.3936721_3936722del, NC_000017.10:g.3840015_3840016del, NG_029041.1:g.32721_32722del

Select item 14913088434.

rs1491308843 [Homo sapiens]

Variant type:: DELINS
Alleles:: GC>-,GCGC [Show Flanks]
Chromosome:: 17:3936756 (GRCh38)
17:3840050 (GRCh37)
Canonical SPDI:: NC_000017.11:3936754:CGC:C,NC_000017.11:3936754:CGC:CGCGC
Gene:: ATP2A3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: CGCGC=0./0 (ALFA)
-=0.000031/4 (GnomAD)
HGVS:: NC_000017.11:g.3936756_3936757del, NC_000017.11:g.3936756_3936757dup, NC_000017.10:g.3840050_3840051del, NC_000017.10:g.3840050_3840051dup, NG_029041.1:g.32687_32688del, NG_029041.1:g.32687_32688dup

Select item 14913062095.

rs1491306209 [Homo sapiens]

Variant type:: DELINS
Alleles:: GC>- [Show Flanks]
Chromosome:: 17:3951553 (GRCh38)
17:3854847 (GRCh37)
Canonical SPDI:: NC_000017.11:3951551:CGC:C
Gene:: ATP2A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.000007/1 (GnomAD_exomes)
-=0.000138/2 (ExAC)
HGVS:: NC_000017.11:g.3951553_3951554del, NC_000017.10:g.3854847_3854848del, NG_029041.1:g.17890_17891del

Select item 14912547226.

rs1491254722 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 17:3958848 (GRCh38)
17:3862143 (GRCh37)
Canonical SPDI:: NC_000017.11:3958848::T
Gene:: ATP2A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: T=0.00135/22 (TOMMO)
T=0.00167/3 (Korea1K)
T=0.00586/576 (GnomAD)
HGVS:: NC_000017.11:g.3958848_3958849insT, NC_000017.10:g.3862142_3862143insT, NG_029041.1:g.10594_10595insA

Select item 14911774597.

rs1491177459 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,AAAA [Show Flanks]
Chromosome:: 17:3958849 (GRCh38)
17:3862143 (GRCh37)
Canonical SPDI:: NC_000017.11:3958847:AAA:A,NC_000017.11:3958847:AAA:AAAAA
Gene:: ATP2A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAA=0./0 (ALFA)
-=0.0006/10 (TOMMO)
-=0.00111/2 (Korea1K)
-=0.00111/96 (GnomAD)
HGVS:: NC_000017.11:g.3958849_3958850del, NC_000017.11:g.3958849_3958850dup, NC_000017.10:g.3862143_3862144del, NC_000017.10:g.3862143_3862144dup, NG_029041.1:g.10594_10595del, NG_029041.1:g.10594_10595dup

Select item 14910907008.

rs1491090700 has merged into rs111586874 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:3934532 (GRCh38)
17:3837826 (GRCh37)
Canonical SPDI:: NC_000017.11:3934522:TTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000017.11:3934522:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:3934522:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:3934522:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:3934522:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:3934522:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:3934522:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:3934522:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:3934522:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:3934522:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:3934522:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:3934522:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:3934522:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:3934522:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:3934522:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ATP2A3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
T=0.175/7 (GENOME_DK)
T=0.3534/1770 (1000Genomes)
HGVS:: NC_000017.11:g.3934532_3934538del, NC_000017.11:g.3934536_3934538del, NC_000017.11:g.3934537_3934538del, NC_000017.11:g.3934538del, NC_000017.11:g.3934538dup, NC_000017.11:g.3934537_3934538dup, NC_000017.11:g.3934536_3934538dup, NC_000017.11:g.3934535_3934538dup, NC_000017.11:g.3934534_3934538dup, NC_000017.11:g.3934533_3934538dup, NC_000017.11:g.3934532_3934538dup, NC_000017.11:g.3934531_3934538dup, NC_000017.11:g.3934530_3934538dup, NC_000017.11:g.3934525_3934538dup, NC_000017.11:g.3934538_3934539insTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.3837826_3837832del, NC_000017.10:g.3837830_3837832del, NC_000017.10:g.3837831_3837832del, NC_000017.10:g.3837832del, NC_000017.10:g.3837832dup, NC_000017.10:g.3837831_3837832dup, NC_000017.10:g.3837830_3837832dup, NC_000017.10:g.3837829_3837832dup, NC_000017.10:g.3837828_3837832dup, NC_000017.10:g.3837827_3837832dup, NC_000017.10:g.3837826_3837832dup, NC_000017.10:g.3837825_3837832dup, NC_000017.10:g.3837824_3837832dup, NC_000017.10:g.3837819_3837832dup, NC_000017.10:g.3837832_3837833insTTTTTTTTTTTTTTTTTTT, NG_029041.1:g.34914_34920del, NG_029041.1:g.34918_34920del, NG_029041.1:g.34919_34920del, NG_029041.1:g.34920del, NG_029041.1:g.34920dup, NG_029041.1:g.34919_34920dup, NG_029041.1:g.34918_34920dup, NG_029041.1:g.34917_34920dup, NG_029041.1:g.34916_34920dup, NG_029041.1:g.34915_34920dup, NG_029041.1:g.34914_34920dup, NG_029041.1:g.34913_34920dup, NG_029041.1:g.34912_34920dup, NG_029041.1:g.34907_34920dup, NG_029041.1:g.34920_34921insAAAAAAAAAAAAAAAAAAA

Select item 14910733089.

rs1491073308 has merged into rs10668980 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,TT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:3935549 (GRCh38)
17:3838843 (GRCh37)
Canonical SPDI:: NC_000017.11:3935535:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:3935535:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:3935535:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:3935535:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:3935535:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:3935535:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:3935535:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:3935535:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:3935535:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:3935535:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:3935535:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:3935535:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:3935535:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:3935535:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ATP2A3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.0769/385 (1000Genomes)
HGVS:: NC_000017.11:g.3935549_3935555del, NC_000017.11:g.3935551_3935555del, NC_000017.11:g.3935553_3935555del, NC_000017.11:g.3935554_3935555del, NC_000017.11:g.3935555del, NC_000017.11:g.3935555dup, NC_000017.11:g.3935554_3935555dup, NC_000017.11:g.3935553_3935555dup, NC_000017.11:g.3935552_3935555dup, NC_000017.11:g.3935551_3935555dup, NC_000017.11:g.3935550_3935555dup, NC_000017.11:g.3935549_3935555dup, NC_000017.11:g.3935547_3935555dup, NC_000017.11:g.3935546_3935555dup, NC_000017.10:g.3838843_3838849del, NC_000017.10:g.3838845_3838849del, NC_000017.10:g.3838847_3838849del, NC_000017.10:g.3838848_3838849del, NC_000017.10:g.3838849del, NC_000017.10:g.3838849dup, NC_000017.10:g.3838848_3838849dup, NC_000017.10:g.3838847_3838849dup, NC_000017.10:g.3838846_3838849dup, NC_000017.10:g.3838845_3838849dup, NC_000017.10:g.3838844_3838849dup, NC_000017.10:g.3838843_3838849dup, NC_000017.10:g.3838841_3838849dup, NC_000017.10:g.3838840_3838849dup, NG_029041.1:g.33901_33907del, NG_029041.1:g.33903_33907del, NG_029041.1:g.33905_33907del, NG_029041.1:g.33906_33907del, NG_029041.1:g.33907del, NG_029041.1:g.33907dup, NG_029041.1:g.33906_33907dup, NG_029041.1:g.33905_33907dup, NG_029041.1:g.33904_33907dup, NG_029041.1:g.33903_33907dup, NG_029041.1:g.33902_33907dup, NG_029041.1:g.33901_33907dup, NG_029041.1:g.33899_33907dup, NG_029041.1:g.33898_33907dup

Select item 149105879810.

rs1491058798 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 17:3958741 (GRCh38)
17:3862035 (GRCh37)
Canonical SPDI:: NC_000017.11:3958733:ATATATATA:ATATATA
Gene:: ATP2A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATA=0./0 (ALFA)
-=0.0001/7 (GnomAD)
-=0.00022/3 (TOMMO)
HGVS:: NC_000017.11:g.3958735TA[3], NC_000017.10:g.3862029TA[3], NG_029041.1:g.10702AT[3]

Select item 149105837311.

rs1491058373 has merged into rs561383105 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA [Show Flanks]
Chromosome:: 17:3931152 (GRCh38)
17:3834446 (GRCh37)
Canonical SPDI:: NC_000017.11:3931139:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:3931139:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:3931139:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:3931139:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:3931139:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
Gene:: ATP2A3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.000015/4 (TOPMED)
A=0.075/3 (GENOME_DK)
HGVS:: NC_000017.11:g.3931152_3931154del, NC_000017.11:g.3931153_3931154del, NC_000017.11:g.3931154del, NC_000017.11:g.3931154dup, NC_000017.11:g.3931153_3931154dup, NC_000017.10:g.3834446_3834448del, NC_000017.10:g.3834447_3834448del, NC_000017.10:g.3834448del, NC_000017.10:g.3834448dup, NC_000017.10:g.3834447_3834448dup, NG_029041.1:g.38301_38303del, NG_029041.1:g.38302_38303del, NG_029041.1:g.38303del, NG_029041.1:g.38303dup, NG_029041.1:g.38302_38303dup

Select item 149100262712.

rs1491002627 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:3936770 (GRCh38)
17:3840064 (GRCh37)
Canonical SPDI:: NC_000017.11:3936769:C:T
Gene:: ATP2A3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.3936770C>T, NC_000017.10:g.3840064C>T, NG_029041.1:g.32673G>A

Select item 149097696113.

rs1490976961 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:3937803 (GRCh38)
17:3841097 (GRCh37)
Canonical SPDI:: NC_000017.11:3937802:G:A
Gene:: ATP2A3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.3937803G>A, NC_000017.10:g.3841097G>A, NG_029041.1:g.31640C>T

Select item 149093339214.

rs1490933392 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:3924694 (GRCh38)
17:3827988 (GRCh37)
Canonical SPDI:: NC_000017.11:3924693:G:A
Gene:: ATP2A3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_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_000017.11:g.3924694G>A, NC_000017.10:g.3827988G>A, NG_029041.1:g.44749C>T, NM_005173.4:c.*728C>T, NM_005173.3:c.*728C>T, NM_174953.3:c.*728C>T, NM_174953.2:c.*728C>T, NM_174954.3:c.*739C>T, NM_174954.2:c.*739C>T, NM_174956.3:c.*739C>T, NM_174956.2:c.*739C>T, NM_174955.3:c.*684C>T, NM_174955.2:c.*684C>T, NM_174957.3:c.*728C>T, NM_174957.2:c.*728C>T, NM_174958.3:c.*145C>T, NM_174958.2:c.*145C>T, XM_011523888.3:c.*739C>T, XM_011523888.2:c.*739C>T, XM_011523885.2:c.*684C>T, XM_011523885.1:c.*684C>T, XM_047436152.1:c.*145C>T, XM_047436150.1:c.*93C>T, XM_047436151.1:c.*93C>T, XM_047436153.1:c.*134C>T

Select item 149090679415.

rs1490906794 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:3938686 (GRCh38)
17:3841980 (GRCh37)
Canonical SPDI:: NC_000017.11:3938685:T:G
Gene:: ATP2A3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.3938686T>G, NC_000017.10:g.3841980T>G, NG_029041.1:g.30757A>C

Select item 149079691216.

rs1490796912 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:3943183 (GRCh38)
17:3846477 (GRCh37)
Canonical SPDI:: NC_000017.11:3943182:A:G
Gene:: ATP2A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.3943183A>G, NC_000017.10:g.3846477A>G, NG_029041.1:g.26260T>C

Select item 149077213217.

rs1490772132 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:3944077 (GRCh38)
17:3847371 (GRCh37)
Canonical SPDI:: NC_000017.11:3944076:C:T
Gene:: ATP2A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.3944077C>T, NC_000017.10:g.3847371C>T, NG_029041.1:g.25366G>A

Select item 149071969618.

rs1490719696 [Homo sapiens]

Variant type:: SNV:
Alleles:: T>G
Chromosome:: no mapping
Canonical SPDI:

Select item 149070818419.

rs1490708184 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:3957433 (GRCh38)
17:3860727 (GRCh37)
Canonical SPDI:: NC_000017.11:3957432:A:G
Gene:: ATP2A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000029/4 (GnomAD)
HGVS:: NC_000017.11:g.3957433A>G, NC_000017.10:g.3860727A>G, NG_029041.1:g.12010T>C

Select item 149060059220.

rs1490600592 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:3964081 (GRCh38)
17:3867375 (GRCh37)
Canonical SPDI:: NC_000017.11:3964080:C:A
Gene:: ATP2A3 (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_000017.11:g.3964081C>A, NC_000017.10:g.3867375C>A, NG_029041.1:g.5362G>T

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