SNP Links for Gene (Select 101929198) - SNP

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Links from Gene

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Select item 14909185681.

rs1490918568 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:193552450 (GRCh38)
3:193270239 (GRCh37)
Canonical SPDI:: NC_000003.12:193552449:A:G
Gene:: ATP13A4 (Varview), ATP13A4-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.193552450A>G, NC_000003.11:g.193270239A>G

Select item 14907851702.

rs1490785170 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:193551509 (GRCh38)
3:193269298 (GRCh37)
Canonical SPDI:: NC_000003.12:193551508:T:C
Gene:: ATP13A4 (Varview), ATP13A4-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.193551509T>C, NC_000003.11:g.193269298T>C

Select item 14889621543.

rs1488962154 has merged into rs979515789 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 3:193555421 (GRCh38)
3:193273210 (GRCh37)
Canonical SPDI:: NC_000003.12:193555420:AAAAAAAA:AAAAAAA,NC_000003.12:193555420:AAAAAAAA:AAAAAAAAA
Gene:: ATP13A4 (Varview), ATP13A4-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.000021/3 (GnomAD)
-=0.000035/1 (TOMMO)
HGVS:: NC_000003.12:g.193555428del, NC_000003.12:g.193555428dup, NC_000003.11:g.193273217del, NC_000003.11:g.193273217dup, NR_046726.1:n.1311del, NR_046726.1:n.1311dup, NR_121666.1:n.734del, NR_121666.1:n.734dup

Select item 14885923664.

rs1488592366 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:193553112 (GRCh38)
3:193270901 (GRCh37)
Canonical SPDI:: NC_000003.12:193553111:C:T
Gene:: ATP13A4 (Varview), ATP13A4-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.193553112C>T, NC_000003.11:g.193270901C>T

Select item 14880951185.

rs1488095118 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:193554541 (GRCh38)
3:193272330 (GRCh37)
Canonical SPDI:: NC_000003.12:193554540:T:G
Gene:: ATP13A4 (Varview), ATP13A4-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.193554541T>G, NC_000003.11:g.193272330T>G, NR_046726.1:n.424T>G

Select item 14880779246.

rs1488077924 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:193555316 (GRCh38)
3:193273105 (GRCh37)
Canonical SPDI:: NC_000003.12:193555315:T:A
Gene:: ATP13A4 (Varview), ATP13A4-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.193555316T>A, NC_000003.11:g.193273105T>A, NR_046726.1:n.1199T>A, NR_121666.1:n.622T>A

Select item 14878493977.

rs1487849397 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:193554993 (GRCh38)
3:193272782 (GRCh37)
Canonical SPDI:: NC_000003.12:193554992:T:C
Gene:: ATP13A4 (Varview), ATP13A4-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000003.12:g.193554993T>C, NC_000003.11:g.193272782T>C, NM_032279.3:c.-194A>G, NR_046726.1:n.876T>C, NR_121666.1:n.299T>C

Select item 14872901588.

rs1487290158 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:193552191 (GRCh38)
3:193269980 (GRCh37)
Canonical SPDI:: NC_000003.12:193552190:C:T
Gene:: ATP13A4 (Varview), ATP13A4-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000003.12:g.193552191C>T, NC_000003.11:g.193269980C>T

Select item 14871740969.

rs1487174096 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:193551859 (GRCh38)
3:193269648 (GRCh37)
Canonical SPDI:: NC_000003.12:193551858:T:A
Gene:: ATP13A4 (Varview), ATP13A4-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.193551859T>A, NC_000003.11:g.193269648T>A

Select item 148711122410.

rs1487111224 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:193554002 (GRCh38)
3:193271791 (GRCh37)
Canonical SPDI:: NC_000003.12:193554001:A:G
Gene:: ATP13A4 (Varview), ATP13A4-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.193554002A>G, NC_000003.11:g.193271791A>G

Select item 148681129411.

rs1486811294 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 3:193553030 (GRCh38)
3:193270819 (GRCh37)
Canonical SPDI:: NC_000003.12:193553029:GG:
Gene:: ATP13A4 (Varview), ATP13A4-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000003.12:g.193553030_193553031del, NC_000003.11:g.193270819_193270820del

Select item 148645823212.

rs1486458232 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 3:193554816 (GRCh38)
3:193272605 (GRCh37)
Canonical SPDI:: NC_000003.12:193554815:A:C,NC_000003.12:193554815:A:G
Gene:: ATP13A4 (Varview), ATP13A4-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
C=0.002729/5 (Korea1K)
HGVS:: NC_000003.12:g.193554816A>C, NC_000003.12:g.193554816A>G, NC_000003.11:g.193272605A>C, NC_000003.11:g.193272605A>G, NM_032279.4:c.-17T>G, NM_032279.4:c.-17T>C, NM_032279.3:c.-17T>G, NM_032279.3:c.-17T>C, NM_032279.2:c.-17T>G, NM_032279.2:c.-17T>C, XM_017007319.2:c.113T>G, XM_017007319.2:c.113T>C, XM_017007319.1:c.-17T>G, XM_017007319.1:c.-17T>C, XM_047449063.1:c.113T>G, XM_047449063.1:c.113T>C, XR_007095757.1:n.377T>G, XR_007095757.1:n.377T>C, NR_046726.1:n.699A>C, NR_046726.1:n.699A>G, NR_121666.1:n.122A>C, NR_121666.1:n.122A>G, XP_016862808.2:p.Val38Gly, XP_016862808.2:p.Val38Ala, XP_047305019.1:p.Val38Gly, XP_047305019.1:p.Val38Ala

Select item 148560346013.

rs1485603460 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:193555154 (GRCh38)
3:193272943 (GRCh37)
Canonical SPDI:: NC_000003.12:193555153:T:C
Gene:: ATP13A4 (Varview), ATP13A4-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.193555154T>C, NC_000003.11:g.193272943T>C, NR_046726.1:n.1037T>C, NR_121666.1:n.460T>C

Select item 148482210614.

rs1484822106 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:193555243 (GRCh38)
3:193273032 (GRCh37)
Canonical SPDI:: NC_000003.12:193555242:A:G
Gene:: ATP13A4 (Varview), ATP13A4-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.193555243A>G, NC_000003.11:g.193273032A>G, NR_046726.1:n.1126A>G, NR_121666.1:n.549A>G

Select item 148463032415.

rs1484630324 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 3:193555963 (GRCh38)
3:193273752 (GRCh37)
Canonical SPDI:: NC_000003.12:193555962:T:A,NC_000003.12:193555962:T:C
Gene:: ATP13A4 (Varview), ATP13A4-AS1 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.193555963T>A, NC_000003.12:g.193555963T>C, NC_000003.11:g.193273752T>A, NC_000003.11:g.193273752T>C

Select item 148389548016.

rs1483895480 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 3:193552886 (GRCh38)
3:193270675 (GRCh37)
Canonical SPDI:: NC_000003.12:193552885:C:A,NC_000003.12:193552885:C:T
Gene:: ATP13A4 (Varview), ATP13A4-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.193552886C>A, NC_000003.12:g.193552886C>T, NC_000003.11:g.193270675C>A, NC_000003.11:g.193270675C>T

Select item 148324471517.

rs1483244715 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:193553869 (GRCh38)
3:193271658 (GRCh37)
Canonical SPDI:: NC_000003.12:193553868:G:A
Gene:: ATP13A4 (Varview), ATP13A4-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000053/14 (TOPMED)
HGVS:: NC_000003.12:g.193553869G>A, NC_000003.11:g.193271658G>A

Select item 148318448218.

rs1483184482 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 3:193555721 (GRCh38)
3:193273510 (GRCh37)
Canonical SPDI:: NC_000003.12:193555718:ATAT:AT
Gene:: ATP13A4 (Varview), ATP13A4-AS1 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: ATAT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.193555719AT[1], NC_000003.11:g.193273508AT[1]

Select item 148140222219.

rs1481402222 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:193551580 (GRCh38)
3:193269369 (GRCh37)
Canonical SPDI:: NC_000003.12:193551579:T:C
Gene:: ATP13A4 (Varview), ATP13A4-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.193551580T>C, NC_000003.11:g.193269369T>C

Select item 148139593620.

rs1481395936 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:193552044 (GRCh38)
3:193269833 (GRCh37)
Canonical SPDI:: NC_000003.12:193552043:G:A
Gene:: ATP13A4 (Varview), ATP13A4-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000003.12:g.193552044G>A, NC_000003.11:g.193269833G>A