SNP Links for Gene (Select 57130) - SNP

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Items: 1 to 20 of 6321

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Select item 14909830901.

rs1490983090 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 19:19665123 (GRCh38)
19:19775932 (GRCh37)
Canonical SPDI:: NC_000019.10:19665122:C:A,NC_000019.10:19665122:C:G,NC_000019.10:19665122:C:T
Gene:: ATP13A1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/1 (GnomAD)
A=0.000283/8 (TOMMO)
HGVS:: NC_000019.10:g.19665123C>A, NC_000019.10:g.19665123C>G, NC_000019.10:g.19665123C>T, NC_000019.9:g.19775932C>A, NC_000019.9:g.19775932C>G, NC_000019.9:g.19775932C>T

Select item 14909530132.

rs1490953013 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:19663948 (GRCh38)
19:19774757 (GRCh37)
Canonical SPDI:: NC_000019.10:19663947:G:A
Gene:: ATP13A1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000042/11 (TOPMED)
A=0.000043/6 (GnomAD)
HGVS:: NC_000019.10:g.19663948G>A, NC_000019.9:g.19774757G>A

Select item 14908339383.

rs1490833938 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:19653486 (GRCh38)
19:19764295 (GRCh37)
Canonical SPDI:: NC_000019.10:19653485:G:A
Gene:: ATP13A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.19653486G>A, NC_000019.9:g.19764295G>A

Select item 14906118654.

rs1490611865 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 19:19663605 (GRCh38)
19:19774414 (GRCh37)
Canonical SPDI:: NC_000019.10:19663604:C:A,NC_000019.10:19663604:C:G,NC_000019.10:19663604:C:T
Gene:: ATP13A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.19663605C>A, NC_000019.10:g.19663605C>G, NC_000019.10:g.19663605C>T, NC_000019.9:g.19774414C>A, NC_000019.9:g.19774414C>G, NC_000019.9:g.19774414C>T, NM_020410.3:c.62G>T, NM_020410.3:c.62G>C, NM_020410.3:c.62G>A, NM_020410.2:c.62G>T, NM_020410.2:c.62G>C, NM_020410.2:c.62G>A, NP_065143.2:p.Arg21Leu, NP_065143.2:p.Arg21Pro, NP_065143.2:p.Arg21Gln

Select item 14905906175.

rs1490590617 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:19665649 (GRCh38)
19:19776458 (GRCh37)
Canonical SPDI:: NC_000019.10:19665648:G:A
Gene:: ATP13A1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000019.10:g.19665649G>A, NC_000019.9:g.19776458G>A

Select item 14905648516.

rs1490564851 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:19665581 (GRCh38)
19:19776390 (GRCh37)
Canonical SPDI:: NC_000019.10:19665580:G:A
Gene:: ATP13A1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000079/11 (GnomAD)
HGVS:: NC_000019.10:g.19665581G>A, NC_000019.9:g.19776390G>A

Select item 14905362317.

rs1490536231 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:19652735 (GRCh38)
19:19763544 (GRCh37)
Canonical SPDI:: NC_000019.10:19652734:G:C
Gene:: ATP13A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.19652735G>C, NC_000019.9:g.19763544G>C

Select item 14905322858.

rs1490532285 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:19651044 (GRCh38)
19:19761853 (GRCh37)
Canonical SPDI:: NC_000019.10:19651043:A:G
Gene:: ATP13A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.19651044A>G, NC_000019.9:g.19761853A>G

Select item 14905138869.

rs1490513886 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:19664811 (GRCh38)
19:19775620 (GRCh37)
Canonical SPDI:: NC_000019.10:19664810:A:G
Gene:: ATP13A1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.19664811A>G, NC_000019.9:g.19775620A>G

Select item 149024711810.

rs1490247118 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:19658349 (GRCh38)
19:19769158 (GRCh37)
Canonical SPDI:: NC_000019.10:19658348:T:G
Gene:: ATP13A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.19658349T>G, NC_000019.9:g.19769158T>G

Select item 148998579911.

rs1489985799 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:19648378 (GRCh38)
19:19759187 (GRCh37)
Canonical SPDI:: NC_000019.10:19648377:T:A
Gene:: ATP13A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.19648378T>A, NC_000019.9:g.19759187T>A

Select item 148983822812.

rs1489838228 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:19656176 (GRCh38)
19:19766985 (GRCh37)
Canonical SPDI:: NC_000019.10:19656175:A:G
Gene:: ATP13A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.19656176A>G, NC_000019.9:g.19766985A>G, NM_020410.3:c.1091T>C, NM_020410.2:c.1091T>C, NP_065143.2:p.Ile364Thr

Select item 148967033913.

rs1489670339 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:19651255 (GRCh38)
19:19762064 (GRCh37)
Canonical SPDI:: NC_000019.10:19651254:T:C
Gene:: ATP13A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.19651255T>C, NC_000019.9:g.19762064T>C

Select item 148962889214.

rs1489628892 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:19652715 (GRCh38)
19:19763524 (GRCh37)
Canonical SPDI:: NC_000019.10:19652714:C:T
Gene:: ATP13A1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.19652715C>T, NC_000019.9:g.19763524C>T, NM_020410.3:c.2106G>A, NM_020410.2:c.2106G>A

Select item 148962257515.

rs1489622575 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:19650050 (GRCh38)
19:19760859 (GRCh37)
Canonical SPDI:: NC_000019.10:19650049:C:T
Gene:: ATP13A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.19650050C>T, NC_000019.9:g.19760859C>T

Select item 148959223616.

rs1489592236 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:19653960 (GRCh38)
19:19764769 (GRCh37)
Canonical SPDI:: NC_000019.10:19653959:C:A,NC_000019.10:19653959:C:T
Gene:: ATP13A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000043/1 (ALFA)
T=0.00001/2 (GnomAD_exomes)
A=0.000342/1 (KOREAN)
HGVS:: NC_000019.10:g.19653960C>A, NC_000019.10:g.19653960C>T, NC_000019.9:g.19764769C>A, NC_000019.9:g.19764769C>T

Select item 148942300217.

rs1489423002 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:19664886 (GRCh38)
19:19775695 (GRCh37)
Canonical SPDI:: NC_000019.10:19664885:C:T
Gene:: ATP13A1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000019.10:g.19664886C>T, NC_000019.9:g.19775695C>T

Select item 148935558018.

rs1489355580 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:19654790 (GRCh38)
19:19765599 (GRCh37)
Canonical SPDI:: NC_000019.10:19654789:A:G
Gene:: ATP13A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.19654790A>G, NC_000019.9:g.19765599A>G

Select item 148931118319.

rs1489311183 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:19664320 (GRCh38)
19:19775129 (GRCh37)
Canonical SPDI:: NC_000019.10:19664319:A:C
Gene:: ATP13A1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.19664320A>C, NC_000019.9:g.19775129A>C

Select item 148930415120.

rs1489304151 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 19:19655780 (GRCh38)
19:19766589 (GRCh37)
Canonical SPDI:: NC_000019.10:19655777:AGAG:AG
Gene:: ATP13A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AGAG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.19655778AG[1], NC_000019.9:g.19766587AG[1]

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