SNP Links for Gene (Select 23400) - SNP

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Select item 14915894661.

rs1491589466 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 1:16990518 (GRCh38)
1:17317013 (GRCh37)
Canonical SPDI:: NC_000001.11:16990517:CT:
Gene:: ATP13A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.16990518_16990519del, NC_000001.10:g.17317013_17317014del, NG_009054.1:g.26410_26411del, NW_025791756.1:g.1405695_1405696del

Select item 14915289182.

rs1491528918 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:16994197 (GRCh38)
1:17320692 (GRCh37)
Canonical SPDI:: NC_000001.11:16994196:CA:
Gene:: ATP13A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000084/1 (ALFA)
-=0.000035/1 (TOMMO)
-=0.000244/33 (GnomAD)
-=0.000268/71 (TOPMED)
-=0.00203/13 (1000Genomes)
HGVS:: NC_000001.11:g.16994197_16994198del, NC_000001.10:g.17320692_17320693del, NG_009054.1:g.22731_22732del, NW_025791756.1:g.1409374_1409375del

Select item 14913487123.

rs1491348712 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCCCCC [Show Flanks]
Chromosome:: 1:17000215 (GRCh38)
1:17326711 (GRCh37)
Canonical SPDI:: NC_000001.11:17000215:GCCCCCGCCCCC:GCCCCCGCCCCCGCCCCC
Gene:: ATP13A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GCCCCCGCCCCCGCCCCC=0./0 (ALFA)
HGVS:: NC_000001.11:g.17000216GCCCCC[3], NC_000001.10:g.17326711GCCCCC[3], NG_009054.1:g.16702GGGGGC[3], NW_025791756.1:g.1415389GCCCCC[3]

Select item 14912154444.

rs1491215444 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 1:17003585 (GRCh38)
1:17330080 (GRCh37)
Canonical SPDI:: NC_000001.11:17003584:CC:
Gene:: ATP13A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.00001/1 (GnomAD)
-=0.02283/88 (ALSPAC)
-=0.02697/100 (TWINSUK)
HGVS:: NC_000001.11:g.17003585_17003586del, NC_000001.10:g.17330080_17330081del, NG_009054.1:g.13343_13344del

Select item 14910692275.

rs1491069227 has merged into rs540533484 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACACACACACACACACACACA>-,CA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACACACA [Show Flanks]
Chromosome:: 1:17003596 (GRCh38)
1:17330091 (GRCh37)
Canonical SPDI:: NC_000001.11:17003585:CACACACACACACACACACACACACACACACACACACA:CACACACACA,NC_000001.11:17003585:CACACACACACACACACACACACACACACACACACACA:CACACACACACA,NC_000001.11:17003585:CACACACACACACACACACACACACACACACACACACA:CACACACACACACACA,NC_000001.11:17003585:CACACACACACACACACACACACACACACACACACACA:CACACACACACACACACA,NC_000001.11:17003585:CACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACA,NC_000001.11:17003585:CACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACA,NC_000001.11:17003585:CACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACA,NC_000001.11:17003585:CACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACA,NC_000001.11:17003585:CACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACA,NC_000001.11:17003585:CACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACA,NC_000001.11:17003585:CACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACA,NC_000001.11:17003585:CACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACA,NC_000001.11:17003585:CACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACA,NC_000001.11:17003585:CACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACA,NC_000001.11:17003585:CACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:17003585:CACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:17003585:CACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:17003585:CACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:17003585:CACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:17003585:CACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:17003585:CACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:17003585:CACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:17003585:CACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:17003585:CACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:17003585:CACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
Gene:: ATP13A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACA=0./0 (ALFA)
HGVS:: NC_000001.11:g.17003586CA[5], NC_000001.11:g.17003586CA[6], NC_000001.11:g.17003586CA[8], NC_000001.11:g.17003586CA[9], NC_000001.11:g.17003586CA[10], NC_000001.11:g.17003586CA[11], NC_000001.11:g.17003586CA[12], NC_000001.11:g.17003586CA[13], NC_000001.11:g.17003586CA[14], NC_000001.11:g.17003586CA[15], NC_000001.11:g.17003586CA[16], NC_000001.11:g.17003586CA[17], NC_000001.11:g.17003586CA[18], NC_000001.11:g.17003586CA[20], NC_000001.11:g.17003586CA[21], NC_000001.11:g.17003586CA[22], NC_000001.11:g.17003586CA[23], NC_000001.11:g.17003586CA[24], NC_000001.11:g.17003586CA[25], NC_000001.11:g.17003586CA[26], NC_000001.11:g.17003586CA[27], NC_000001.11:g.17003586CA[28], NC_000001.11:g.17003586CA[29], NC_000001.11:g.17003586CA[30], NC_000001.11:g.17003586CA[32], NC_000001.10:g.17330081CA[5], NC_000001.10:g.17330081CA[6], NC_000001.10:g.17330081CA[8], NC_000001.10:g.17330081CA[9], NC_000001.10:g.17330081CA[10], NC_000001.10:g.17330081CA[11], NC_000001.10:g.17330081CA[12], NC_000001.10:g.17330081CA[13], NC_000001.10:g.17330081CA[14], NC_000001.10:g.17330081CA[15], NC_000001.10:g.17330081CA[16], NC_000001.10:g.17330081CA[17], NC_000001.10:g.17330081CA[18], NC_000001.10:g.17330081CA[20], NC_000001.10:g.17330081CA[21], NC_000001.10:g.17330081CA[22], NC_000001.10:g.17330081CA[23], NC_000001.10:g.17330081CA[24], NC_000001.10:g.17330081CA[25], NC_000001.10:g.17330081CA[26], NC_000001.10:g.17330081CA[27], NC_000001.10:g.17330081CA[28], NC_000001.10:g.17330081CA[29], NC_000001.10:g.17330081CA[30], NC_000001.10:g.17330081CA[32], NG_009054.1:g.13306TG[5], NG_009054.1:g.13306TG[6], NG_009054.1:g.13306TG[8], NG_009054.1:g.13306TG[9], NG_009054.1:g.13306TG[10], NG_009054.1:g.13306TG[11], NG_009054.1:g.13306TG[12], NG_009054.1:g.13306TG[13], NG_009054.1:g.13306TG[14], NG_009054.1:g.13306TG[15], NG_009054.1:g.13306TG[16], NG_009054.1:g.13306TG[17], NG_009054.1:g.13306TG[18], NG_009054.1:g.13306TG[20], NG_009054.1:g.13306TG[21], NG_009054.1:g.13306TG[22], NG_009054.1:g.13306TG[23], NG_009054.1:g.13306TG[24], NG_009054.1:g.13306TG[25], NG_009054.1:g.13306TG[26], NG_009054.1:g.13306TG[27], NG_009054.1:g.13306TG[28], NG_009054.1:g.13306TG[29], NG_009054.1:g.13306TG[30], NG_009054.1:g.13306TG[32], NW_025791756.1:g.1418767CA[7], NW_025791756.1:g.1418767CA[8], NW_025791756.1:g.1418767CA[10], NW_025791756.1:g.1418767CA[11], NW_025791756.1:g.1418767CA[12], NW_025791756.1:g.1418767CA[13], NW_025791756.1:g.1418767CA[14], NW_025791756.1:g.1418767CA[15], NW_025791756.1:g.1418767CA[16], NW_025791756.1:g.1418767CA[17], NW_025791756.1:g.1418767CA[18], NW_025791756.1:g.1418767CA[19], NW_025791756.1:g.1418767CA[20], NW_025791756.1:g.1418767CA[22], NW_025791756.1:g.1418767CA[23], NW_025791756.1:g.1418767CA[24], NW_025791756.1:g.1418767CA[25], NW_025791756.1:g.1418767CA[26], NW_025791756.1:g.1418767CA[27], NW_025791756.1:g.1418767CA[28], NW_025791756.1:g.1418767CA[29], NW_025791756.1:g.1418767CA[30], NW_025791756.1:g.1418767CA[31], NW_025791756.1:g.1418767CA[32], NW_025791756.1:g.1418767CA[34]

Select item 14910550066.

rs1491055006 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 1:17009410 (GRCh38)
1:17335905 (GRCh37)
Canonical SPDI:: NC_000001.11:17009409:TA:
Gene:: ATP13A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00008/1 (ALFA)
-=0.00055/1 (Korea1K)
-=0.00203/13 (1000Genomes)
HGVS:: NC_000001.11:g.17009410_17009411del, NC_000001.10:g.17335905_17335906del, NG_009054.1:g.7518_7519del, NW_025791756.1:g.1424593_1424594del

Select item 14910526227.

rs1491052622 [Homo sapiens]

Variant type:: INS
Alleles:: ->TA [Show Flanks]
Chromosome:: 1:17009410 (GRCh38)
1:17335906 (GRCh37)
Canonical SPDI:: NC_000001.11:17009410::TA
Gene:: ATP13A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TA=0./0 (ALFA)
TA=0.000004/1 (TOPMED)
TA=0.000009/1 (GnomAD)
HGVS:: NC_000001.11:g.17009410_17009411insTA, NC_000001.10:g.17335905_17335906insTA, NG_009054.1:g.7518_7519insTA, NW_025791756.1:g.1424593_1424594insTA

Select item 14907961338.

rs1490796133 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 1:16988085 (GRCh38)
1:17314580 (GRCh37)
Canonical SPDI:: NC_000001.11:16988084:T:A,NC_000001.11:16988084:T:G
Gene:: ATP13A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.16988085T>A, NC_000001.11:g.16988085T>G, NC_000001.10:g.17314580T>A, NC_000001.10:g.17314580T>G, NG_009054.1:g.28844A>T, NG_009054.1:g.28844A>C, NW_025791756.1:g.1403262T>A, NW_025791756.1:g.1403262T>G

Select item 14906607989.

rs1490660798 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:17003068 (GRCh38)
1:17329564 (GRCh37)
Canonical SPDI:: NC_000001.11:17003068:C:CC
Gene:: ATP13A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.17003069dup, NC_000001.10:g.17329564dup, NG_009054.1:g.13860dup, NW_025791756.1:g.1418250dup

Select item 149057892810.

rs1490578928 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:16988955 (GRCh38)
1:17315450 (GRCh37)
Canonical SPDI:: NC_000001.11:16988954:C:A
Gene:: ATP13A2 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.16988955C>A, NC_000001.10:g.17315450C>A, NG_009054.1:g.27974G>T, NW_025791756.1:g.1404132C>A

Select item 149056961511.

rs1490569615 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:17002209 (GRCh38)
1:17328704 (GRCh37)
Canonical SPDI:: NC_000001.11:17002208:A:G
Gene:: ATP13A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.17002209A>G, NC_000001.10:g.17328704A>G, NG_009054.1:g.14720T>C, NW_025791756.1:g.1417390A>G

Select item 149032547612.

rs1490325476 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:16986155 (GRCh38)
1:17312650 (GRCh37)
Canonical SPDI:: NC_000001.11:16986154:G:A
Gene:: ATP13A2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.16986155G>A, NC_000001.10:g.17312650G>A, NG_009054.1:g.30774C>T, NM_022089.4:c.*66C>T, NM_022089.3:c.*66C>T, NM_022089.2:c.*66C>T, NM_001141973.3:c.*66C>T, NM_001141973.2:c.*66C>T, NM_001141973.1:c.*66C>T, NM_001141974.3:c.3307C>T, NM_001141974.2:c.3307C>T, NM_001141974.1:c.3307C>T, NG_029688.1:g.432C>T, NW_025791756.1:g.1401332G>A, XM_017000844.2:c.*66C>T, XM_017000844.1:c.*66C>T, XM_017000845.2:c.*66C>T, XM_017000845.1:c.*66C>T, XM_017000846.2:c.*66C>T, XM_017000846.1:c.*66C>T, XM_017000847.2:c.*66C>T, XM_017000847.1:c.*66C>T, XM_017000848.2:c.*66C>T, XM_017000848.1:c.*66C>T, XM_017000849.2:c.*66C>T, XM_017000849.1:c.*66C>T, XM_005245810.2:c.3436C>T, XM_005245810.1:c.3436C>T, XM_011541128.2:c.3424C>T, XM_011541128.1:c.3424C>T, XM_005245811.2:c.3424C>T, XM_005245811.1:c.3424C>T, XM_006710512.2:c.3421C>T, XM_006710512.1:c.3421C>T, XM_005245812.2:c.3412C>T, XM_005245812.1:c.3412C>T, XM_017000850.2:c.*66C>T, XM_017000850.1:c.*66C>T, XM_006710513.2:c.3397C>T, XM_006710513.1:c.3397C>T, XM_047416565.1:c.*66C>T, XM_047416538.1:c.3409C>T, XM_005245815.2:c.3322C>T, XM_005245815.1:c.3322C>T, XM_011541129.2:c.3232C>T, XM_011541129.1:c.3232C>T, XM_047416544.1:c.*66C>T, XM_047416546.1:c.*66C>T, XM_047416548.1:c.*66C>T, XM_047416550.1:c.*66C>T, XM_047416551.1:c.*66C>T, XM_047416553.1:c.*66C>T, XM_047416556.1:c.*66C>T, XM_047416560.1:c.*66C>T, XM_047416562.1:c.*66C>T, XM_047416563.1:c.*66C>T, XM_047416537.1:c.3421C>T, XM_047416539.1:c.3409C>T, XM_047416567.1:c.*66C>T, XM_047416542.1:c.3394C>T, XM_047416568.1:c.*66C>T, XM_047416569.1:c.*66C>T, XM_047416570.1:c.*66C>T, XM_047416571.1:c.*66C>T, XM_047416554.1:c.3319C>T, XM_047416564.1:c.3229C>T, XM_047416566.1:c.3205C>T, XM_047416549.1:c.*66C>T, XM_047416547.1:c.*66C>T, NP_001135446.1:p.Pro1103Ser, XP_005245867.1:p.Pro1146Ser, XP_011539430.1:p.Pro1142Ser, XP_005245868.1:p.Pro1142Ser, XP_006710575.1:p.Pro1141Ser, XP_005245869.1:p.Pro1138Ser, XP_006710576.1:p.Pro1133Ser, XP_047272494.1:p.Pro1137Ser, XP_005245872.1:p.Pro1108Ser, XP_011539431.1:p.Pro1078Ser, XP_047272493.1:p.Pro1141Ser, XP_047272495.1:p.Pro1137Ser, XP_047272498.1:p.Pro1132Ser, XP_047272510.1:p.Pro1107Ser, XP_047272520.1:p.Pro1077Ser, XP_047272522.1:p.Pro1069Ser

Select item 149026425413.

rs1490264254 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:17010259 (GRCh38)
1:17336754 (GRCh37)
Canonical SPDI:: NC_000001.11:17010258:G:A
Gene:: ATP13A2 (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_000001.11:g.17010259G>A, NC_000001.10:g.17336754G>A, NG_009054.1:g.6670C>T, NW_025791756.1:g.1425442G>A

Select item 149023327514.

rs1490233275 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:16999832 (GRCh38)
1:17326327 (GRCh37)
Canonical SPDI:: NC_000001.11:16999831:T:C
Gene:: ATP13A2 (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_000001.11:g.16999832T>C, NC_000001.10:g.17326327T>C, NG_009054.1:g.17097A>G, NW_025791756.1:g.1415005T>C

Select item 149017120615.

rs1490171206 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:17003520 (GRCh38)
1:17330015 (GRCh37)
Canonical SPDI:: NC_000001.11:17003519:G:A
Gene:: ATP13A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.17003520G>A, NC_000001.10:g.17330015G>A, NG_009054.1:g.13409C>T, NW_025791756.1:g.1418701G>A

Select item 148997948816.

rs1489979488 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:17013172 (GRCh38)
1:17339667 (GRCh37)
Canonical SPDI:: NC_000001.11:17013171:A:G
Gene:: ATP13A2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00003/8 (TOPMED)
G=0.00005/7 (GnomAD)
HGVS:: NC_000001.11:g.17013172A>G, NC_000001.10:g.17339667A>G, NG_009054.1:g.3757T>C, NW_025791756.1:g.1428357A>G

Select item 148996625517.

rs1489966255 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:16996876 (GRCh38)
1:17323371 (GRCh37)
Canonical SPDI:: NC_000001.11:16996875:G:C
Gene:: ATP13A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.16996876G>C, NC_000001.10:g.17323371G>C, NG_009054.1:g.20053C>G, NW_025791756.1:g.1412053G>C

Select item 148995471618.

rs1489954716 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:17000308 (GRCh38)
1:17326803 (GRCh37)
Canonical SPDI:: NC_000001.11:17000307:C:T
Gene:: ATP13A2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.17000308C>T, NC_000001.10:g.17326803C>T, NG_009054.1:g.16621G>A, NM_022089.4:c.845G>A, NM_022089.3:c.845G>A, NM_022089.2:c.845G>A, NM_001141973.3:c.830G>A, NM_001141973.2:c.830G>A, NM_001141973.1:c.830G>A, NM_001141974.3:c.830G>A, NM_001141974.2:c.830G>A, NM_001141974.1:c.830G>A, NW_025791756.1:g.1415481C>T, XM_017000844.2:c.845G>A, XM_017000844.1:c.845G>A, XM_017000845.2:c.827G>A, XM_017000845.1:c.827G>A, XM_017000846.2:c.803G>A, XM_017000846.1:c.803G>A, XM_017000847.2:c.815G>A, XM_017000847.1:c.815G>A, XM_017000848.2:c.845G>A, XM_017000848.1:c.845G>A, XM_017000849.2:c.830G>A, XM_017000849.1:c.830G>A, XM_005245810.2:c.842G>A, XM_005245810.1:c.842G>A, XM_011541128.2:c.845G>A, XM_011541128.1:c.845G>A, XM_005245811.2:c.830G>A, XM_005245811.1:c.830G>A, XM_006710512.2:c.827G>A, XM_006710512.1:c.827G>A, XM_005245812.2:c.818G>A, XM_005245812.1:c.818G>A, XM_017000850.2:c.845G>A, XM_017000850.1:c.845G>A, XM_006710513.2:c.803G>A, XM_006710513.1:c.803G>A, XM_005245815.2:c.845G>A, XM_005245815.1:c.845G>A, XM_011541129.2:c.845G>A, XM_011541129.1:c.845G>A, XM_047416546.1:c.842G>A, XM_047416547.1:c.818G>A, XM_047416548.1:c.815G>A, XM_047416550.1:c.827G>A, XM_047416551.1:c.818G>A, XM_047416553.1:c.800G>A, XM_047416556.1:c.803G>A, XM_047416560.1:c.842G>A, XM_047416562.1:c.845G>A, XM_047416565.1:c.818G>A, XM_047416539.1:c.815G>A, XM_047416538.1:c.830G>A, XM_047416567.1:c.842G>A, XM_047416542.1:c.800G>A, XM_047416568.1:c.830G>A, XM_047416569.1:c.827G>A, XM_047416570.1:c.818G>A, XM_047416571.1:c.803G>A, XM_047416554.1:c.842G>A, XM_047416564.1:c.842G>A, XM_047416566.1:c.818G>A, XM_047416549.1:c.830G>A, XM_047416537.1:c.842G>A, XM_047416563.1:c.842G>A, XM_047416544.1:c.842G>A, NP_071372.1:p.Ser282Asn, NP_001135445.1:p.Ser277Asn, NP_001135446.1:p.Ser277Asn, XP_016856333.1:p.Ser282Asn, XP_016856334.1:p.Ser276Asn, XP_016856335.1:p.Ser268Asn, XP_016856336.1:p.Ser272Asn, XP_016856337.1:p.Ser282Asn, XP_016856338.1:p.Ser277Asn, XP_005245867.1:p.Ser281Asn, XP_011539430.1:p.Ser282Asn, XP_005245868.1:p.Ser277Asn, XP_006710575.1:p.Ser276Asn, XP_005245869.1:p.Ser273Asn, XP_016856339.1:p.Ser282Asn, XP_006710576.1:p.Ser268Asn, XP_005245872.1:p.Ser282Asn, XP_011539431.1:p.Ser282Asn, XP_047272502.1:p.Ser281Asn, XP_047272503.1:p.Ser273Asn, XP_047272504.1:p.Ser272Asn, XP_047272506.1:p.Ser276Asn, XP_047272507.1:p.Ser273Asn, XP_047272509.1:p.Ser267Asn, XP_047272512.1:p.Ser268Asn, XP_047272516.1:p.Ser281Asn, XP_047272518.1:p.Ser282Asn, XP_047272521.1:p.Ser273Asn, XP_047272495.1:p.Ser272Asn, XP_047272494.1:p.Ser277Asn, XP_047272523.1:p.Ser281Asn, XP_047272498.1:p.Ser267Asn, XP_047272524.1:p.Ser277Asn, XP_047272525.1:p.Ser276Asn, XP_047272526.1:p.Ser273Asn, XP_047272527.1:p.Ser268Asn, XP_047272510.1:p.Ser281Asn, XP_047272520.1:p.Ser281Asn, XP_047272522.1:p.Ser273Asn, XP_047272505.1:p.Ser277Asn, XP_047272493.1:p.Ser281Asn, XP_047272519.1:p.Ser281Asn, XP_047272500.1:p.Ser281Asn

Select item 148975456019.

rs1489754560 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:17010727 (GRCh38)
1:17337222 (GRCh37)
Canonical SPDI:: NC_000001.11:17010726:T:C
Gene:: ATP13A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.17010727T>C, NC_000001.10:g.17337222T>C, NG_009054.1:g.6202A>G, NW_025791756.1:g.1425910T>C

Select item 148969008920.

rs1489690089 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:17008068 (GRCh38)
1:17334563 (GRCh37)
Canonical SPDI:: NC_000001.11:17008067:T:C
Gene:: ATP13A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000248/4 (TOMMO)
C=0.000684/2 (KOREAN)
HGVS:: NC_000001.11:g.17008068T>C, NC_000001.10:g.17334563T>C, NG_009054.1:g.8861A>G, NW_025791756.1:g.1423251T>C

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