SNP Links for Nucleotide (Select 565324255) - SNP

Links from Nucleotide

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Select item 14902795701.

rs1490279570 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:112752776 (GRCh38)
13:113407090 (GRCh37)
Canonical SPDI:: NC_000013.11:112752775:G:A
Gene:: ATP11A (Varview), ATP11A-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.112752776G>A, NC_000013.10:g.113407090G>A, NR_109811.1:n.1956C>T

Select item 14883879622.

rs1488387962 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 13:112753240 (GRCh38)
13:113407554 (GRCh37)
Canonical SPDI:: NC_000013.11:112753239:T:
Gene:: ATP11A (Varview), ATP11A-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.112753240del, NC_000013.10:g.113407554del, NR_109811.1:n.1492del

Select item 14868288993.

rs1486828899 has merged into rs141858971 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>-,CC,CCC [Show Flanks]
Chromosome:: 13:112754569 (GRCh38)
13:113408883 (GRCh37)
Canonical SPDI:: NC_000013.11:112754568:CCCCCCC:CCCCCC,NC_000013.11:112754568:CCCCCCC:CCCCCCCC,NC_000013.11:112754568:CCCCCCC:CCCCCCCCC
Gene:: ATP11A (Varview), ATP11A-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCC=0./0 (ALFA)
-=0.00089/4 (Estonian)
-=0.00301/3 (GoNL)
-=0.01833/11 (NorthernSweden)
C=0.01917/96 (1000Genomes)
-=0.02347/43 (Korea1K)
C=0.02446/410 (TOMMO)
HGVS:: NC_000013.11:g.112754575del, NC_000013.11:g.112754575dup, NC_000013.11:g.112754574_112754575dup, NC_000013.10:g.113408889del, NC_000013.10:g.113408889dup, NC_000013.10:g.113408888_113408889dup, NR_046661.1:n.163del, NR_046661.1:n.163dup, NR_046661.1:n.162_163dup, NR_109811.1:n.163del, NR_109811.1:n.163dup, NR_109811.1:n.162_163dup

Select item 14854877294.

rs1485487729 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 13:112753190 (GRCh38)
13:113407504 (GRCh37)
Canonical SPDI:: NC_000013.11:112753189:G:C
Gene:: ATP11A (Varview), ATP11A-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
C=0.000354/6 (TOMMO)
C=0.001027/3 (KOREAN)
HGVS:: NC_000013.11:g.112753190G>C, NC_000013.10:g.113407504G>C, NR_109811.1:n.1542C>G

Select item 14842765895.

rs1484276589 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 13:112752870 (GRCh38)
13:113407184 (GRCh37)
Canonical SPDI:: NC_000013.11:112752869:G:T
Gene:: ATP11A (Varview), ATP11A-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.112752870G>T, NC_000013.10:g.113407184G>T, NR_109811.1:n.1862C>A

Select item 14818140566.

rs1481814056 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 13:112754385 (GRCh38)
13:113408699 (GRCh37)
Canonical SPDI:: NC_000013.11:112754384:T:A
Gene:: ATP11A (Varview), ATP11A-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.112754385T>A, NC_000013.10:g.113408699T>A, NR_109811.1:n.347A>T

Select item 14812411737.

rs1481241173 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:112754107 (GRCh38)
13:113408421 (GRCh37)
Canonical SPDI:: NC_000013.11:112754106:G:A
Gene:: ATP11A (Varview), ATP11A-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000013.11:g.112754107G>A, NC_000013.10:g.113408421G>A, NR_109811.1:n.625C>T

Select item 14809167078.

rs1480916707 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 13:112754478 (GRCh38)
13:113408792 (GRCh37)
Canonical SPDI:: NC_000013.11:112754477:T:A
Gene:: ATP11A (Varview), ATP11A-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000013.11:g.112754478T>A, NC_000013.10:g.113408792T>A, NR_109811.1:n.254A>T

Select item 14803473049.

rs1480347304 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:112752844 (GRCh38)
13:113407158 (GRCh37)
Canonical SPDI:: NC_000013.11:112752843:G:A
Gene:: ATP11A (Varview), ATP11A-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_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_000013.11:g.112752844G>A, NC_000013.10:g.113407158G>A, NR_109811.1:n.1888C>T

Select item 147615414310.

rs1476154143 [Homo sapiens]

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

Select item 147480366611.

rs1474803666 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 13:112753336 (GRCh38)
13:113407650 (GRCh37)
Canonical SPDI:: NC_000013.11:112753335:G:T
Gene:: ATP11A (Varview), ATP11A-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.112753336G>T, NC_000013.10:g.113407650G>T, NR_109811.1:n.1396C>A

Select item 147427707312.

rs1474277073 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:112754207 (GRCh38)
13:113408521 (GRCh37)
Canonical SPDI:: NC_000013.11:112754206:G:A
Gene:: ATP11A (Varview), ATP11A-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000034/9 (TOPMED)
A=0.000043/6 (GnomAD)
HGVS:: NC_000013.11:g.112754207G>A, NC_000013.10:g.113408521G>A, NR_109811.1:n.525C>T

Select item 147260407913.

rs1472604079 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 13:112753922 (GRCh38)
13:113408236 (GRCh37)
Canonical SPDI:: NC_000013.11:112753921:G:A,NC_000013.11:112753921:G:C
Gene:: ATP11A (Varview), ATP11A-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.112753922G>A, NC_000013.11:g.112753922G>C, NC_000013.10:g.113408236G>A, NC_000013.10:g.113408236G>C, NR_109811.1:n.810C>T, NR_109811.1:n.810C>G

Select item 146745587314.

rs1467455873 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:112753540 (GRCh38)
13:113407854 (GRCh37)
Canonical SPDI:: NC_000013.11:112753539:C:T
Gene:: ATP11A (Varview), ATP11A-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000054/1 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000013.11:g.112753540C>T, NC_000013.10:g.113407854C>T, NR_109811.1:n.1192G>A

Select item 146696983515.

rs1466969835 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:112753733 (GRCh38)
13:113408047 (GRCh37)
Canonical SPDI:: NC_000013.11:112753732:A:G
Gene:: ATP11A (Varview), ATP11A-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.112753733A>G, NC_000013.10:g.113408047A>G, NR_109811.1:n.999T>C

Select item 146317083816.

rs1463170838 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCT>- [Show Flanks]
Chromosome:: 13:112753138 (GRCh38)
13:113407452 (GRCh37)
Canonical SPDI:: NC_000013.11:112753134:TCTCTCT:TCT
Gene:: ATP11A (Varview), ATP11A-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.112753136CT[1], NC_000013.10:g.113407450CT[1], NR_109811.1:n.1592GA[1]

Select item 146278172717.

rs1462781727 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:112753747 (GRCh38)
13:113408061 (GRCh37)
Canonical SPDI:: NC_000013.11:112753746:A:G
Gene:: ATP11A (Varview), ATP11A-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000022/3 (GnomAD)
HGVS:: NC_000013.11:g.112753747A>G, NC_000013.10:g.113408061A>G, NR_109811.1:n.985T>C

Select item 146174896018.

rs1461748960 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 13:112753771 (GRCh38)
13:113408085 (GRCh37)
Canonical SPDI:: NC_000013.11:112753770:T:A
Gene:: ATP11A (Varview), ATP11A-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.112753771T>A, NC_000013.10:g.113408085T>A, NR_109811.1:n.961A>T

Select item 146071022219.

rs1460710222 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 13:112753907 (GRCh38)
13:113408221 (GRCh37)
Canonical SPDI:: NC_000013.11:112753906:AAA:AA
Gene:: ATP11A (Varview), ATP11A-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.112753909del, NC_000013.10:g.113408223del, NR_109811.1:n.825del

Select item 146026436720.

rs1460264367 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 13:112754308 (GRCh38)
13:113408622 (GRCh37)
Canonical SPDI:: NC_000013.11:112754307:T:G
Gene:: ATP11A (Varview), ATP11A-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_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_000013.11:g.112754308T>G, NC_000013.10:g.113408622T>G, NR_109811.1:n.424A>C

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