SNP Links for Gene (Select 79572) - SNP

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Select item 14915605471.

rs1491560547 has merged into rs202057558 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA [Show Flanks]
Chromosome:: 3:194485071 (GRCh38)
3:194205800 (GRCh37)
Canonical SPDI:: NC_000003.12:194485056:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:194485056:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:194485056:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:194485056:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:194485056:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: ATP13A3 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.058528/35 (NorthernSweden)
-=0.150697/39888 (TOPMED)
HGVS:: NC_000003.12:g.194485071_194485073del, NC_000003.12:g.194485072_194485073del, NC_000003.12:g.194485073del, NC_000003.12:g.194485073dup, NC_000003.12:g.194485072_194485073dup, NC_000003.11:g.194205800_194205802del, NC_000003.11:g.194205801_194205802del, NC_000003.11:g.194205802del, NC_000003.11:g.194205802dup, NC_000003.11:g.194205801_194205802dup

Select item 14915326952.

rs1491532695 has merged into rs367780103 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 3:194476774 (GRCh38)
3:194197503 (GRCh37)
Canonical SPDI:: NC_000003.12:194476766:TTTTTTTTTTTTTT:TTTTTTT,NC_000003.12:194476766:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:194476766:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:194476766:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:194476766:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:194476766:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:194476766:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:194476766:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:194476766:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:194476766:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:194476766:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
Gene:: ATP13A3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
TTTT=0.00882/34 (ALSPAC)
T=0.01/6 (NorthernSweden)
TTTT=0.01241/46 (TWINSUK)
T=0.1/4 (GENOME_DK)
HGVS:: NC_000003.12:g.194476774_194476780del, NC_000003.12:g.194476779_194476780del, NC_000003.12:g.194476780del, NC_000003.12:g.194476780dup, NC_000003.12:g.194476779_194476780dup, NC_000003.12:g.194476778_194476780dup, NC_000003.12:g.194476777_194476780dup, NC_000003.12:g.194476776_194476780dup, NC_000003.12:g.194476775_194476780dup, NC_000003.12:g.194476774_194476780dup, NC_000003.12:g.194476773_194476780dup, NC_000003.11:g.194197503_194197509del, NC_000003.11:g.194197508_194197509del, NC_000003.11:g.194197509del, NC_000003.11:g.194197509dup, NC_000003.11:g.194197508_194197509dup, NC_000003.11:g.194197507_194197509dup, NC_000003.11:g.194197506_194197509dup, NC_000003.11:g.194197505_194197509dup, NC_000003.11:g.194197504_194197509dup, NC_000003.11:g.194197503_194197509dup, NC_000003.11:g.194197502_194197509dup

Select item 14915302263.

rs1491530226 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 3:194421137 (GRCh38)
3:194141866 (GRCh37)
Canonical SPDI:: NC_000003.12:194421136:GT:
Gene:: ATP13A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00034/4 (ALFA)
HGVS:: NC_000003.12:g.194421137_194421138del, NC_000003.11:g.194141866_194141867del

Select item 14915214774.

rs1491521477 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAGG,GAGGGAGG [Show Flanks]
Chromosome:: 3:194417981 (GRCh38)
3:194138711 (GRCh37)
Canonical SPDI:: NC_000003.12:194417981:AGG:AGGGAGG,NC_000003.12:194417981:AGG:AGGGAGGGAGG
Gene:: ATP13A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AGGGAGG=0.00042/5 (ALFA)
HGVS:: NC_000003.12:g.194417984_194417985insGAGG, NC_000003.12:g.194417984_194417985insGAGGGAGG, NC_000003.11:g.194138713_194138714insGAGG, NC_000003.11:g.194138713_194138714insGAGGGAGG

Select item 14914878165.

rs1491487816 has merged into rs35965987 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA [Show Flanks]
Chromosome:: 3:194414472 (GRCh38)
3:194135201 (GRCh37)
Canonical SPDI:: NC_000003.12:194414459:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:194414459:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:194414459:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:194414459:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:194414459:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:194414459:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:194414459:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: ATP13A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
A=0.18737/187 (GoNL)
A=0.275/11 (GENOME_DK)
A=0.30631/1534 (1000Genomes)
HGVS:: NC_000003.12:g.194414472_194414474del, NC_000003.12:g.194414473_194414474del, NC_000003.12:g.194414474del, NC_000003.12:g.194414474dup, NC_000003.12:g.194414473_194414474dup, NC_000003.12:g.194414472_194414474dup, NC_000003.12:g.194414471_194414474dup, NC_000003.11:g.194135201_194135203del, NC_000003.11:g.194135202_194135203del, NC_000003.11:g.194135203del, NC_000003.11:g.194135203dup, NC_000003.11:g.194135202_194135203dup, NC_000003.11:g.194135201_194135203dup, NC_000003.11:g.194135200_194135203dup

Select item 14914770476.

rs1491477047 [Homo sapiens]

Variant type:: INS
Alleles:: ->ATAT,ATATATATATATATAT,CT,CTAT,CTATAT,CTCT,T,TACT,TAGT,TAGTATATAT,TAT,TATAAGTTTATATATATATACTAT,TATACTAT,TATAT,TATATAT,TATATATATACT,TATATT,TT [Show Flanks]
Chromosome:: 3:194421136 (GRCh38)
3:194141866 (GRCh37)
Canonical SPDI:: NC_000003.12:194421136::ATAT,NC_000003.12:194421136::ATATATATATATATAT,NC_000003.12:194421136::CT,NC_000003.12:194421136::CTAT,NC_000003.12:194421136::CTATAT,NC_000003.12:194421136::CTCT,NC_000003.12:194421136::T,NC_000003.12:194421136::TACT,NC_000003.12:194421136::TAGT,NC_000003.12:194421136::TAGTATATAT,NC_000003.12:194421136::TAT,NC_000003.12:194421136::TATAAGTTTATATATATATACTAT,NC_000003.12:194421136::TATACTAT,NC_000003.12:194421136::TATAT,NC_000003.12:194421136::TATATAT,NC_000003.12:194421136::TATATATATACT,NC_000003.12:194421136::TATATT,NC_000003.12:194421136::TT
Gene:: ATP13A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTAT=0./0 (ALFA)
HGVS:: NC_000003.12:g.194421136_194421137insATAT, NC_000003.12:g.194421136_194421137insATATATATATATATAT, NC_000003.12:g.194421136_194421137insCT, NC_000003.12:g.194421136_194421137insCTAT, NC_000003.12:g.194421136_194421137insCTATAT, NC_000003.12:g.194421136_194421137insCTCT, NC_000003.12:g.194421136_194421137insT, NC_000003.12:g.194421136_194421137insTACT, NC_000003.12:g.194421136_194421137insTAGT, NC_000003.12:g.194421136_194421137insTAGTATATAT, NC_000003.12:g.194421136_194421137insTAT, NC_000003.12:g.194421136_194421137insTATAAGTTTATATATATATACTAT, NC_000003.12:g.194421136_194421137insTATACTAT, NC_000003.12:g.194421136_194421137insTATAT, NC_000003.12:g.194421136_194421137insTATATAT, NC_000003.12:g.194421136_194421137insTATATATATACT, NC_000003.12:g.194421136_194421137insTATATT, NC_000003.12:g.194421136_194421137insTT, NC_000003.11:g.194141865_194141866insATAT, NC_000003.11:g.194141865_194141866insATATATATATATATAT, NC_000003.11:g.194141865_194141866insCT, NC_000003.11:g.194141865_194141866insCTAT, NC_000003.11:g.194141865_194141866insCTATAT, NC_000003.11:g.194141865_194141866insCTCT, NC_000003.11:g.194141865_194141866insT, NC_000003.11:g.194141865_194141866insTACT, NC_000003.11:g.194141865_194141866insTAGT, NC_000003.11:g.194141865_194141866insTAGTATATAT, NC_000003.11:g.194141865_194141866insTAT, NC_000003.11:g.194141865_194141866insTATAAGTTTATATATATATACTAT, NC_000003.11:g.194141865_194141866insTATACTAT, NC_000003.11:g.194141865_194141866insTATAT, NC_000003.11:g.194141865_194141866insTATATAT, NC_000003.11:g.194141865_194141866insTATATATATACT, NC_000003.11:g.194141865_194141866insTATATT, NC_000003.11:g.194141865_194141866insTT

Select item 14914606787.

rs1491460678 has merged into rs1188178641 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 3:194428227 (GRCh38)
3:194148956 (GRCh37)
Canonical SPDI:: NC_000003.12:194428220:AAAAAAAAAAAAAAAAA:AAAAAA,NC_000003.12:194428220:AAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000003.12:194428220:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:194428220:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:194428220:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:194428220:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:194428220:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:194428220:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:194428220:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:194428220:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:194428220:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:194428220:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:194428220:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:194428220:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:194428220:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:194428220:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:194428220:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ATP13A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
AAAAAAAA=0.0308/17 (NorthernSweden)
HGVS:: NC_000003.12:g.194428227_194428237del, NC_000003.12:g.194428230_194428237del, NC_000003.12:g.194428231_194428237del, NC_000003.12:g.194428233_194428237del, NC_000003.12:g.194428234_194428237del, NC_000003.12:g.194428235_194428237del, NC_000003.12:g.194428236_194428237del, NC_000003.12:g.194428237del, NC_000003.12:g.194428237dup, NC_000003.12:g.194428236_194428237dup, NC_000003.12:g.194428235_194428237dup, NC_000003.12:g.194428234_194428237dup, NC_000003.12:g.194428232_194428237dup, NC_000003.12:g.194428231_194428237dup, NC_000003.12:g.194428230_194428237dup, NC_000003.12:g.194428229_194428237dup, NC_000003.12:g.194428223_194428237dup, NC_000003.11:g.194148956_194148966del, NC_000003.11:g.194148959_194148966del, NC_000003.11:g.194148960_194148966del, NC_000003.11:g.194148962_194148966del, NC_000003.11:g.194148963_194148966del, NC_000003.11:g.194148964_194148966del, NC_000003.11:g.194148965_194148966del, NC_000003.11:g.194148966del, NC_000003.11:g.194148966dup, NC_000003.11:g.194148965_194148966dup, NC_000003.11:g.194148964_194148966dup, NC_000003.11:g.194148963_194148966dup, NC_000003.11:g.194148961_194148966dup, NC_000003.11:g.194148960_194148966dup, NC_000003.11:g.194148959_194148966dup, NC_000003.11:g.194148958_194148966dup, NC_000003.11:g.194148952_194148966dup

Select item 14914482778.

rs1491448277 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 3:194421136 (GRCh38)
3:194141865 (GRCh37)
Canonical SPDI:: NC_000003.12:194421135:AG:
Gene:: ATP13A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000003.12:g.194421136_194421137del, NC_000003.11:g.194141865_194141866del

Select item 14914362759.

rs1491436275 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 3:194465828 (GRCh38)
3:194186558 (GRCh37)
Canonical SPDI:: NC_000003.12:194465828::C
Gene:: ATP13A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.000859/114 (GnomAD)
C=0.004353/73 (TOMMO)
C=0.016376/30 (Korea1K)
HGVS:: NC_000003.12:g.194465828_194465829insC, NC_000003.11:g.194186557_194186558insC

Select item 149141924510.

rs1491419245 [Homo sapiens]

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

Select item 149141082711.

rs1491410827 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 3:194414460 (GRCh38)
3:194135190 (GRCh37)
Canonical SPDI:: NC_000003.12:194414460::G
Gene:: ATP13A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000003.12:g.194414460_194414461insG, NC_000003.11:g.194135189_194135190insG

Select item 149132359612.

rs1491323596 [Homo sapiens]

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

Select item 149131597813.

rs1491315978 has merged into rs1284255038 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>-,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT [Show Flanks]
Chromosome:: 3:194421114 (GRCh38)
3:194141843 (GRCh37)
Canonical SPDI:: NC_000003.12:194421111:GTGT:GT,NC_000003.12:194421111:GTGT:GTGTGT,NC_000003.12:194421111:GTGT:GTGTGTGT,NC_000003.12:194421111:GTGT:GTGTGTGTGT,NC_000003.12:194421111:GTGT:GTGTGTGTGTGT
Gene:: ATP13A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGT=0./0 (ALFA)
-=0.00365/2 (NorthernSweden)
HGVS:: NC_000003.12:g.194421112GT[1], NC_000003.12:g.194421112GT[3], NC_000003.12:g.194421112GT[4], NC_000003.12:g.194421112GT[5], NC_000003.12:g.194421112GT[6], NC_000003.11:g.194141841GT[1], NC_000003.11:g.194141841GT[3], NC_000003.11:g.194141841GT[4], NC_000003.11:g.194141841GT[5], NC_000003.11:g.194141841GT[6]

Select item 149131395214.

rs1491313952 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGTG [Show Flanks]
Chromosome:: 3:194410935 (GRCh38)
3:194131665 (GRCh37)
Canonical SPDI:: NC_000003.12:194410935:GGGTG:GGGTGGGTG
Gene:: ATP13A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GGGTGGGTG=0./0 (ALFA)
GGGT=0.000027/3 (GnomAD)
HGVS:: NC_000003.12:g.194410937_194410940dup, NC_000003.11:g.194131666_194131669dup

Select item 149130767015.

rs1491307670 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 3:194408021 (GRCh38)
3:194128750 (GRCh37)
Canonical SPDI:: NC_000003.12:194408020:CT:
Gene:: ATP13A3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000015/2 (GnomAD)
HGVS:: NC_000003.12:g.194408021_194408022del, NC_000003.11:g.194128750_194128751del

Select item 149128320816.

rs1491283208 has merged into rs146993933 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACACACACACACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACA [Show Flanks]
Chromosome:: 3:194449064 (GRCh38)
3:194169793 (GRCh37)
Canonical SPDI:: NC_000003.12:194449044:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000003.12:194449044:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000003.12:194449044:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000003.12:194449044:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000003.12:194449044:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000003.12:194449044:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000003.12:194449044:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000003.12:194449044:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000003.12:194449044:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000003.12:194449044:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000003.12:194449044:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000003.12:194449044:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:194449044:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:194449044:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:194449044:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:194449044:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:194449044:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:194449044:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:194449044:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:194449044:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:194449044:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
Gene:: ATP13A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACACACACA=0./0 (ALFA)
-=0.13/501 (ALSPAC)
ACACACACACAC=0.5/20 (GENOME_DK)
HGVS:: NC_000003.12:g.194449046CA[9], NC_000003.12:g.194449046CA[10], NC_000003.12:g.194449046CA[11], NC_000003.12:g.194449046CA[12], NC_000003.12:g.194449046CA[13], NC_000003.12:g.194449046CA[14], NC_000003.12:g.194449046CA[15], NC_000003.12:g.194449046CA[16], NC_000003.12:g.194449046CA[17], NC_000003.12:g.194449046CA[18], NC_000003.12:g.194449046CA[19], NC_000003.12:g.194449046CA[20], NC_000003.12:g.194449046CA[21], NC_000003.12:g.194449046CA[22], NC_000003.12:g.194449046CA[24], NC_000003.12:g.194449046CA[25], NC_000003.12:g.194449046CA[26], NC_000003.12:g.194449046CA[27], NC_000003.12:g.194449046CA[28], NC_000003.12:g.194449046CA[29], NC_000003.12:g.194449046CA[30], NC_000003.11:g.194169775CA[9], NC_000003.11:g.194169775CA[10], NC_000003.11:g.194169775CA[11], NC_000003.11:g.194169775CA[12], NC_000003.11:g.194169775CA[13], NC_000003.11:g.194169775CA[14], NC_000003.11:g.194169775CA[15], NC_000003.11:g.194169775CA[16], NC_000003.11:g.194169775CA[17], NC_000003.11:g.194169775CA[18], NC_000003.11:g.194169775CA[19], NC_000003.11:g.194169775CA[20], NC_000003.11:g.194169775CA[21], NC_000003.11:g.194169775CA[22], NC_000003.11:g.194169775CA[24], NC_000003.11:g.194169775CA[25], NC_000003.11:g.194169775CA[26], NC_000003.11:g.194169775CA[27], NC_000003.11:g.194169775CA[28], NC_000003.11:g.194169775CA[29], NC_000003.11:g.194169775CA[30]

Select item 149127368117.

rs1491273681 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGGA,AGGAAGGA,AGGAAGGAAGGA,AGGAAGGAAGGAAGGA,AGGAAGGAAGGAAGGAAGGA,AGGAAGGAAGGAAGGAAGGAAGGA,AGGAAGGAAGGAAGGAAGGAAGGAAGGA,AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA,TGGAAGGAAGGA [Show Flanks]
Chromosome:: 3:194417954 (GRCh38)
3:194138684 (GRCh37)
Canonical SPDI:: NC_000003.12:194417954:GGA:GGAAGGA,NC_000003.12:194417954:GGA:GGAAGGAAGGA,NC_000003.12:194417954:GGA:GGAAGGAAGGAAGGA,NC_000003.12:194417954:GGA:GGAAGGAAGGAAGGAAGGA,NC_000003.12:194417954:GGA:GGAAGGAAGGAAGGAAGGAAGGA,NC_000003.12:194417954:GGA:GGAAGGAAGGAAGGAAGGAAGGAAGGA,NC_000003.12:194417954:GGA:GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA,NC_000003.12:194417954:GGA:GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA,NC_000003.12:194417954:GGA:GGATGGAAGGAAGGA
Gene:: ATP13A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGAAGGAAGGA=0./0 (ALFA)
GGAAGGAAGGAAGGAA=0.00007/1 (TOMMO)
HGVS:: NC_000003.12:g.194417957_194417958insAGGA, NC_000003.12:g.194417957_194417958insAGGAAGGA, NC_000003.12:g.194417958AGGA[3], NC_000003.12:g.194417958AGGA[4], NC_000003.12:g.194417958AGGA[5], NC_000003.12:g.194417958AGGA[6], NC_000003.12:g.194417958AGGA[7], NC_000003.12:g.194417958AGGA[8], NC_000003.12:g.194417957_194417958insTGGAAGGAAGGA, NC_000003.11:g.194138686_194138687insAGGA, NC_000003.11:g.194138686_194138687insAGGAAGGA, NC_000003.11:g.194138687AGGA[3], NC_000003.11:g.194138687AGGA[4], NC_000003.11:g.194138687AGGA[5], NC_000003.11:g.194138687AGGA[6], NC_000003.11:g.194138687AGGA[7], NC_000003.11:g.194138687AGGA[8], NC_000003.11:g.194138686_194138687insTGGAAGGAAGGA

Select item 149122921018.

rs1491229210 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 3:194410934 (GRCh38)
3:194131663 (GRCh37)
Canonical SPDI:: NC_000003.12:194410933:TG:
Gene:: ATP13A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00034/4 (ALFA)
HGVS:: NC_000003.12:g.194410934_194410935del, NC_000003.11:g.194131663_194131664del

Select item 149120875019.

rs1491208750 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 3:194449044 (GRCh38)
3:194169773 (GRCh37)
Canonical SPDI:: NC_000003.12:194449043:TA:
Gene:: ATP13A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00118/14 (ALFA)
HGVS:: NC_000003.12:g.194449044_194449045del, NC_000003.11:g.194169773_194169774del

Select item 149120289420.

rs1491202894 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT,ATAT,ATATAT,ATATATAT,ATATATATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT [Show Flanks]
Chromosome:: 3:194421112 (GRCh38)
3:194141842 (GRCh37)
Canonical SPDI:: NC_000003.12:194421112:T:TAT,NC_000003.12:194421112:T:TATAT,NC_000003.12:194421112:T:TATATAT,NC_000003.12:194421112:T:TATATATAT,NC_000003.12:194421112:T:TATATATATAT,NC_000003.12:194421112:T:TATATATATATATATAT,NC_000003.12:194421112:T:TATATATATATATATATAT,NC_000003.12:194421112:T:TATATATATATATATATATAT
Gene:: ATP13A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATAT=0./0 (ALFA)
TATATATATATATATATATA=0.00008/2 (TOMMO)
HGVS:: NC_000003.12:g.194421113_194421114insAT, NC_000003.12:g.194421113_194421114insATAT, NC_000003.12:g.194421114AT[3], NC_000003.12:g.194421114AT[4], NC_000003.12:g.194421114AT[5], NC_000003.12:g.194421114AT[8], NC_000003.12:g.194421114AT[9], NC_000003.12:g.194421114AT[10], NC_000003.11:g.194141842_194141843insAT, NC_000003.11:g.194141842_194141843insATAT, NC_000003.11:g.194141843AT[3], NC_000003.11:g.194141843AT[4], NC_000003.11:g.194141843AT[5], NC_000003.11:g.194141843AT[8], NC_000003.11:g.194141843AT[9], NC_000003.11:g.194141843AT[10]

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