SNP Links for Protein (Select 1013362348) - SNP - NCBI

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Links from Protein

Items: 1 to 20 of 243

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Select item 14908668851.

rs1490866885 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:87767697 (GRCh38)
10:89527454 (GRCh37)
Canonical SPDI:: NC_000010.11:87767696:C:T
Gene:: ATAD1 (Varview), LOC124902476 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
HGVS:: NC_000010.11:g.87767697C>T, NC_000010.10:g.89527454C>T, XM_005270252.6:c.807G>A, XM_005270252.5:c.807G>A, XM_005270252.4:c.807G>A, XM_005270252.3:c.807G>A, XM_005270252.2:c.807G>A, XM_005270252.1:c.807G>A, NM_032810.4:c.807G>A, NM_032810.3:c.807G>A, NM_032810.2:c.807G>A, XM_011540303.4:c.807G>A, XM_011540303.3:c.807G>A, XM_011540303.2:c.807G>A, XM_011540303.1:c.807G>A, XM_017016847.3:c.807G>A, XM_017016847.2:c.807G>A, XM_017016847.1:c.807G>A, XM_017016848.2:c.717G>A, XM_017016848.1:c.717G>A, NM_001321969.2:c.450G>A, NM_001321969.1:c.450G>A, NR_135914.2:n.880G>A, NR_135914.1:n.885G>A, NM_001321967.2:c.807G>A, NM_001321967.1:c.807G>A, NM_001321968.2:c.717G>A, NM_001321968.1:c.717G>A, XM_011540302.2:c.633G>A, XM_011540302.1:c.633G>A, XR_007062224.1:n.20C>T, XM_047425908.1:c.807G>A, XM_047425910.1:c.807G>A, XM_047425911.1:c.807G>A, XM_047425912.1:c.807G>A, XM_047425913.1:c.717G>A

Select item 14881597342.

rs1488159734 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:87814506 (GRCh38)
10:89574263 (GRCh37)
Canonical SPDI:: NC_000010.11:87814505:A:C
Gene:: ATAD1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.87814506A>C, NC_000010.10:g.89574263A>C, NW_013171807.1:g.30328A>C, XM_005270252.6:c.94T>G, XM_005270252.5:c.94T>G, XM_005270252.4:c.94T>G, XM_005270252.3:c.94T>G, XM_005270252.2:c.94T>G, XM_005270252.1:c.94T>G, NM_032810.4:c.94T>G, NM_032810.3:c.94T>G, NM_032810.2:c.94T>G, XM_011540303.4:c.94T>G, XM_011540303.3:c.94T>G, XM_011540303.2:c.94T>G, XM_011540303.1:c.94T>G, XM_017016851.3:c.94T>G, XM_017016851.2:c.94T>G, XM_017016851.1:c.94T>G, XM_017016847.3:c.94T>G, XM_017016847.2:c.94T>G, XM_017016847.1:c.94T>G, XM_017016848.2:c.94T>G, XM_017016848.1:c.94T>G, NM_001321969.2:c.-354T>G, NM_001321969.1:c.-354T>G, NR_135914.2:n.167T>G, NR_135914.1:n.172T>G, NM_001321967.2:c.94T>G, NM_001321967.1:c.94T>G, NM_001321968.2:c.94T>G, NM_001321968.1:c.94T>G, XM_047425910.1:c.94T>G, XM_047425911.1:c.94T>G, XM_047425914.1:c.94T>G, XM_047425908.1:c.94T>G, XM_047425912.1:c.94T>G, XM_047425913.1:c.94T>G, XM_047425915.1:c.94T>G, XP_005270309.1:p.Phe32Val, NP_116199.2:p.Phe32Val, XP_011538605.1:p.Phe32Val, XP_016872340.1:p.Phe32Val, XP_016872336.1:p.Phe32Val, XP_016872337.1:p.Phe32Val, NP_001308896.1:p.Phe32Val, NP_001308897.1:p.Phe32Val, XP_047281866.1:p.Phe32Val, XP_047281867.1:p.Phe32Val, XP_047281870.1:p.Phe32Val, XP_047281864.1:p.Phe32Val, XP_047281868.1:p.Phe32Val, XP_047281869.1:p.Phe32Val, XP_047281871.1:p.Phe32Val

Select item 14818304563.

rs1481830456 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:87784540 (GRCh38)
10:89544297 (GRCh37)
Canonical SPDI:: NC_000010.11:87784539:C:T
Gene:: ATAD1 (Varview), LOC124902476 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.87784540C>T, NC_000010.10:g.89544297C>T, NW_013171807.1:g.362C>T, XM_005270252.6:c.513G>A, XM_005270252.5:c.513G>A, XM_005270252.4:c.513G>A, XM_005270252.3:c.513G>A, XM_005270252.2:c.513G>A, XM_005270252.1:c.513G>A, NM_032810.4:c.513G>A, NM_032810.3:c.513G>A, NM_032810.2:c.513G>A, XM_011540303.4:c.513G>A, XM_011540303.3:c.513G>A, XM_011540303.2:c.513G>A, XM_011540303.1:c.513G>A, XM_017016847.3:c.513G>A, XM_017016847.2:c.513G>A, XM_017016847.1:c.513G>A, XM_017016851.3:c.513G>A, XM_017016851.2:c.513G>A, XM_017016851.1:c.513G>A, XM_017016848.2:c.513G>A, XM_017016848.1:c.513G>A, NM_001321969.2:c.156G>A, NM_001321969.1:c.156G>A, NR_135914.2:n.586G>A, NR_135914.1:n.591G>A, NM_001321967.2:c.513G>A, NM_001321967.1:c.513G>A, NM_001321968.2:c.513G>A, NM_001321968.1:c.513G>A, XM_011540302.2:c.339G>A, XM_011540302.1:c.339G>A, XM_047425912.1:c.513G>A, XM_047425915.1:c.513G>A, XM_047425913.1:c.513G>A, XM_047425914.1:c.513G>A, XM_047425908.1:c.513G>A, XM_047425910.1:c.513G>A, XM_047425911.1:c.513G>A

Select item 14815041724.

rs1481504172 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:87814443 (GRCh38)
10:89574200 (GRCh37)
Canonical SPDI:: NC_000010.11:87814442:T:C
Gene:: ATAD1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_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_000010.11:g.87814443T>C, NC_000010.10:g.89574200T>C, NW_013171807.1:g.30265T>C, XM_005270252.6:c.157A>G, XM_005270252.5:c.157A>G, XM_005270252.4:c.157A>G, XM_005270252.3:c.157A>G, XM_005270252.2:c.157A>G, XM_005270252.1:c.157A>G, NM_032810.4:c.157A>G, NM_032810.3:c.157A>G, NM_032810.2:c.157A>G, XM_011540303.4:c.157A>G, XM_011540303.3:c.157A>G, XM_011540303.2:c.157A>G, XM_011540303.1:c.157A>G, XM_017016851.3:c.157A>G, XM_017016851.2:c.157A>G, XM_017016851.1:c.157A>G, XM_017016847.3:c.157A>G, XM_017016847.2:c.157A>G, XM_017016847.1:c.157A>G, XM_017016848.2:c.157A>G, XM_017016848.1:c.157A>G, NM_001321969.2:c.-291A>G, NM_001321969.1:c.-291A>G, NR_135914.2:n.230A>G, NR_135914.1:n.235A>G, NM_001321967.2:c.157A>G, NM_001321967.1:c.157A>G, NM_001321968.2:c.157A>G, NM_001321968.1:c.157A>G, XM_047425911.1:c.157A>G, XM_047425908.1:c.157A>G, XM_047425910.1:c.157A>G, XM_047425912.1:c.157A>G, XM_047425913.1:c.157A>G, XM_047425914.1:c.157A>G, XM_047425915.1:c.157A>G, XP_005270309.1:p.Lys53Glu, NP_116199.2:p.Lys53Glu, XP_011538605.1:p.Lys53Glu, XP_016872340.1:p.Lys53Glu, XP_016872336.1:p.Lys53Glu, XP_016872337.1:p.Lys53Glu, NP_001308896.1:p.Lys53Glu, NP_001308897.1:p.Lys53Glu, XP_047281867.1:p.Lys53Glu, XP_047281864.1:p.Lys53Glu, XP_047281866.1:p.Lys53Glu, XP_047281868.1:p.Lys53Glu, XP_047281869.1:p.Lys53Glu, XP_047281870.1:p.Lys53Glu, XP_047281871.1:p.Lys53Glu

Select item 14814533625.

rs1481453362 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:87754690 (GRCh38)
10:89514447 (GRCh37)
Canonical SPDI:: NC_000010.11:87754689:A:G
Gene:: ATAD1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.87754690A>G, NC_000010.10:g.89514447A>G, XM_005270252.6:c.1083T>C, XM_005270252.5:c.1083T>C, XM_005270252.4:c.1083T>C, XM_005270252.3:c.1083T>C, XM_005270252.2:c.1083T>C, XM_005270252.1:c.1083T>C, NM_032810.4:c.1083T>C, NM_032810.3:c.1083T>C, NM_032810.2:c.1083T>C, XM_017016847.3:c.1083T>C, XM_017016847.2:c.1083T>C, XM_017016847.1:c.1083T>C, XM_017016848.2:c.993T>C, XM_017016848.1:c.993T>C, NM_001321969.2:c.726T>C, NM_001321969.1:c.726T>C, NR_135914.2:n.1243T>C, NR_135914.1:n.1248T>C, NM_001321967.2:c.1083T>C, NM_001321967.1:c.1083T>C, NM_001321968.2:c.993T>C, NM_001321968.1:c.993T>C, XM_011540302.2:c.909T>C, XM_011540302.1:c.909T>C, XM_047425908.1:c.1083T>C

Select item 14813825216.

rs1481382521 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:87792657 (GRCh38)
10:89552414 (GRCh37)
Canonical SPDI:: NC_000010.11:87792656:A:G
Gene:: ATAD1 (Varview), LOC124902476 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.87792657A>G, NC_000010.10:g.89552414A>G, NW_013171807.1:g.8479A>G, XM_005270252.6:c.261T>C, XM_005270252.5:c.261T>C, XM_005270252.4:c.261T>C, XM_005270252.3:c.261T>C, XM_005270252.2:c.261T>C, XM_005270252.1:c.261T>C, NM_032810.4:c.261T>C, NM_032810.3:c.261T>C, NM_032810.2:c.261T>C, XM_011540303.4:c.261T>C, XM_011540303.3:c.261T>C, XM_011540303.2:c.261T>C, XM_011540303.1:c.261T>C, XM_017016847.3:c.261T>C, XM_017016847.2:c.261T>C, XM_017016847.1:c.261T>C, XM_017016851.3:c.261T>C, XM_017016851.2:c.261T>C, XM_017016851.1:c.261T>C, XM_017016848.2:c.261T>C, XM_017016848.1:c.261T>C, NM_001321969.2:c.-187T>C, NM_001321969.1:c.-187T>C, NR_135914.2:n.334T>C, NR_135914.1:n.339T>C, NM_001321967.2:c.261T>C, NM_001321967.1:c.261T>C, NM_001321968.2:c.261T>C, NM_001321968.1:c.261T>C, XM_011540302.2:c.87T>C, XM_011540302.1:c.87T>C, XM_047425912.1:c.261T>C, XM_047425915.1:c.261T>C, XM_047425913.1:c.261T>C, XM_047425914.1:c.261T>C, XM_047425908.1:c.261T>C, XM_047425910.1:c.261T>C, XM_047425911.1:c.261T>C

Select item 14774659917.

rs1477465991 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:87790397 (GRCh38)
10:89550154 (GRCh37)
Canonical SPDI:: NC_000010.11:87790396:C:A
Gene:: ATAD1 (Varview), LOC124902476 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.87790397C>A, NC_000010.10:g.89550154C>A, NW_013171807.1:g.6219C>A, XM_005270252.6:c.295G>T, XM_005270252.5:c.295G>T, XM_005270252.4:c.295G>T, XM_005270252.3:c.295G>T, XM_005270252.2:c.295G>T, XM_005270252.1:c.295G>T, NM_032810.4:c.295G>T, NM_032810.3:c.295G>T, NM_032810.2:c.295G>T, XM_011540303.4:c.295G>T, XM_011540303.3:c.295G>T, XM_011540303.2:c.295G>T, XM_011540303.1:c.295G>T, XM_017016847.3:c.295G>T, XM_017016847.2:c.295G>T, XM_017016847.1:c.295G>T, XM_017016851.3:c.295G>T, XM_017016851.2:c.295G>T, XM_017016851.1:c.295G>T, XM_017016848.2:c.295G>T, XM_017016848.1:c.295G>T, NM_001321969.2:c.-153G>T, NM_001321969.1:c.-153G>T, NR_135914.2:n.368G>T, NR_135914.1:n.373G>T, NM_001321967.2:c.295G>T, NM_001321967.1:c.295G>T, NM_001321968.2:c.295G>T, NM_001321968.1:c.295G>T, XM_011540302.2:c.121G>T, XM_011540302.1:c.121G>T, XM_047425912.1:c.295G>T, XM_047425915.1:c.295G>T, XM_047425913.1:c.295G>T, XM_047425914.1:c.295G>T, XM_047425908.1:c.295G>T, XM_047425910.1:c.295G>T, XM_047425911.1:c.295G>T, XP_005270309.1:p.Val99Phe, NP_116199.2:p.Val99Phe, XP_011538605.1:p.Val99Phe, XP_016872336.1:p.Val99Phe, XP_016872340.1:p.Val99Phe, XP_016872337.1:p.Val99Phe, NP_001308896.1:p.Val99Phe, NP_001308897.1:p.Val99Phe, XP_011538604.1:p.Val41Phe, XP_047281868.1:p.Val99Phe, XP_047281871.1:p.Val99Phe, XP_047281869.1:p.Val99Phe, XP_047281870.1:p.Val99Phe, XP_047281864.1:p.Val99Phe, XP_047281866.1:p.Val99Phe, XP_047281867.1:p.Val99Phe

Select item 14724981768.

rs1472498176 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:87784600 (GRCh38)
10:89544357 (GRCh37)
Canonical SPDI:: NC_000010.11:87784599:G:C
Gene:: ATAD1 (Varview), LOC124902476 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant,non_coding_transcript_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_000010.11:g.87784600G>C, NC_000010.10:g.89544357G>C, NW_013171807.1:g.422G>C, XM_005270252.6:c.453C>G, XM_005270252.5:c.453C>G, XM_005270252.4:c.453C>G, XM_005270252.3:c.453C>G, XM_005270252.2:c.453C>G, XM_005270252.1:c.453C>G, NM_032810.4:c.453C>G, NM_032810.3:c.453C>G, NM_032810.2:c.453C>G, XM_011540303.4:c.453C>G, XM_011540303.3:c.453C>G, XM_011540303.2:c.453C>G, XM_011540303.1:c.453C>G, XM_017016847.3:c.453C>G, XM_017016847.2:c.453C>G, XM_017016847.1:c.453C>G, XM_017016851.3:c.453C>G, XM_017016851.2:c.453C>G, XM_017016851.1:c.453C>G, XM_017016848.2:c.453C>G, XM_017016848.1:c.453C>G, NM_001321969.2:c.96C>G, NM_001321969.1:c.96C>G, NR_135914.2:n.526C>G, NR_135914.1:n.531C>G, NM_001321967.2:c.453C>G, NM_001321967.1:c.453C>G, NM_001321968.2:c.453C>G, NM_001321968.1:c.453C>G, XM_011540302.2:c.279C>G, XM_011540302.1:c.279C>G, XM_047425912.1:c.453C>G, XM_047425915.1:c.453C>G, XM_047425913.1:c.453C>G, XM_047425914.1:c.453C>G, XM_047425908.1:c.453C>G, XM_047425910.1:c.453C>G, XM_047425911.1:c.453C>G

Select item 14706027909.

rs1470602790 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:87754761 (GRCh38)
10:89514518 (GRCh37)
Canonical SPDI:: NC_000010.11:87754760:G:A
Gene:: ATAD1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0./0 (GnomAD)
HGVS:: NC_000010.11:g.87754761G>A, NC_000010.10:g.89514518G>A, XM_005270252.6:c.1012C>T, XM_005270252.5:c.1012C>T, XM_005270252.4:c.1012C>T, XM_005270252.3:c.1012C>T, XM_005270252.2:c.1012C>T, XM_005270252.1:c.1012C>T, NM_032810.4:c.1012C>T, NM_032810.3:c.1012C>T, NM_032810.2:c.1012C>T, XM_017016847.3:c.1012C>T, XM_017016847.2:c.1012C>T, XM_017016847.1:c.1012C>T, XM_017016848.2:c.922C>T, XM_017016848.1:c.922C>T, NM_001321969.2:c.655C>T, NM_001321969.1:c.655C>T, NR_135914.2:n.1172C>T, NR_135914.1:n.1177C>T, NM_001321967.2:c.1012C>T, NM_001321967.1:c.1012C>T, NM_001321968.2:c.922C>T, NM_001321968.1:c.922C>T, XM_011540302.2:c.838C>T, XM_011540302.1:c.838C>T, XM_047425908.1:c.1012C>T, XP_005270309.1:p.Arg338Trp, NP_116199.2:p.Arg338Trp, XP_016872336.1:p.Arg338Trp, XP_016872337.1:p.Arg308Trp, NP_001308898.1:p.Arg219Trp, NP_001308896.1:p.Arg338Trp, NP_001308897.1:p.Arg308Trp, XP_011538604.1:p.Arg280Trp, XP_047281864.1:p.Arg338Trp

Select item 146459186710.

rs1464591867 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:87814455 (GRCh38)
10:89574212 (GRCh37)
Canonical SPDI:: NC_000010.11:87814454:C:T
Gene:: ATAD1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.87814455C>T, NC_000010.10:g.89574212C>T, NW_013171807.1:g.30277C>T, XM_005270252.6:c.145G>A, XM_005270252.5:c.145G>A, XM_005270252.4:c.145G>A, XM_005270252.3:c.145G>A, XM_005270252.2:c.145G>A, XM_005270252.1:c.145G>A, NM_032810.4:c.145G>A, NM_032810.3:c.145G>A, NM_032810.2:c.145G>A, XM_011540303.4:c.145G>A, XM_011540303.3:c.145G>A, XM_011540303.2:c.145G>A, XM_011540303.1:c.145G>A, XM_017016851.3:c.145G>A, XM_017016851.2:c.145G>A, XM_017016851.1:c.145G>A, XM_017016847.3:c.145G>A, XM_017016847.2:c.145G>A, XM_017016847.1:c.145G>A, XM_017016848.2:c.145G>A, XM_017016848.1:c.145G>A, NM_001321969.2:c.-303G>A, NM_001321969.1:c.-303G>A, NR_135914.2:n.218G>A, NR_135914.1:n.223G>A, NM_001321967.2:c.145G>A, NM_001321967.1:c.145G>A, NM_001321968.2:c.145G>A, NM_001321968.1:c.145G>A, XM_047425910.1:c.145G>A, XM_047425911.1:c.145G>A, XM_047425914.1:c.145G>A, XM_047425908.1:c.145G>A, XM_047425912.1:c.145G>A, XM_047425913.1:c.145G>A, XM_047425915.1:c.145G>A, XP_005270309.1:p.Val49Ile, NP_116199.2:p.Val49Ile, XP_011538605.1:p.Val49Ile, XP_016872340.1:p.Val49Ile, XP_016872336.1:p.Val49Ile, XP_016872337.1:p.Val49Ile, NP_001308896.1:p.Val49Ile, NP_001308897.1:p.Val49Ile, XP_047281866.1:p.Val49Ile, XP_047281867.1:p.Val49Ile, XP_047281870.1:p.Val49Ile, XP_047281864.1:p.Val49Ile, XP_047281868.1:p.Val49Ile, XP_047281869.1:p.Val49Ile, XP_047281871.1:p.Val49Ile

Select item 145539973311.

rs1455399733 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:87776356 (GRCh38)
10:89536113 (GRCh37)
Canonical SPDI:: NC_000010.11:87776355:G:A
Gene:: ATAD1 (Varview), LOC124902476 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.87776356G>A, NC_000010.10:g.89536113G>A, XM_005270252.6:c.655C>T, XM_005270252.5:c.655C>T, XM_005270252.4:c.655C>T, XM_005270252.3:c.655C>T, XM_005270252.2:c.655C>T, XM_005270252.1:c.655C>T, NM_032810.4:c.655C>T, NM_032810.3:c.655C>T, NM_032810.2:c.655C>T, XM_011540303.4:c.655C>T, XM_011540303.3:c.655C>T, XM_011540303.2:c.655C>T, XM_011540303.1:c.655C>T, XM_017016847.3:c.655C>T, XM_017016847.2:c.655C>T, XM_017016847.1:c.655C>T, XM_017016848.2:c.655C>T, XM_017016848.1:c.655C>T, NM_001321969.2:c.298C>T, NM_001321969.1:c.298C>T, NR_135914.2:n.728C>T, NR_135914.1:n.733C>T, NM_001321967.2:c.655C>T, NM_001321967.1:c.655C>T, NM_001321968.2:c.655C>T, NM_001321968.1:c.655C>T, XM_011540302.2:c.481C>T, XM_011540302.1:c.481C>T, XM_047425908.1:c.655C>T, XM_047425910.1:c.655C>T, XM_047425911.1:c.655C>T, XM_047425912.1:c.655C>T, XM_047425913.1:c.655C>T, XP_005270309.1:p.Leu219Phe, NP_116199.2:p.Leu219Phe, XP_011538605.1:p.Leu219Phe, XP_016872336.1:p.Leu219Phe, XP_016872337.1:p.Leu219Phe, NP_001308898.1:p.Leu100Phe, NP_001308896.1:p.Leu219Phe, NP_001308897.1:p.Leu219Phe, XP_011538604.1:p.Leu161Phe, XP_047281864.1:p.Leu219Phe, XP_047281866.1:p.Leu219Phe, XP_047281867.1:p.Leu219Phe, XP_047281868.1:p.Leu219Phe, XP_047281869.1:p.Leu219Phe

Select item 145396893812.

rs1453968938 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCTGGCAAAAGTT [Show Flanks]
Chromosome:: 10:87790429 (GRCh38)
10:89550187 (GRCh37)
Canonical SPDI:: NC_000010.11:87790429:CCTGGCAAAAGTT:CCTGGCAAAAGTTCCTGGCAAAAGTT
Gene:: ATAD1 (Varview), LOC124902476 (Varview)
Functional Consequence:: intron_variant,splice_acceptor_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: CCTGGCAAAAGTTCCTGGCAAAAGTT=0./0 (ALFA)
CCTGGCAAAAGTT=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.87790430_87790442dup, NC_000010.10:g.89550187_89550199dup, NW_013171807.1:g.6252_6264dup

Select item 144594462613.

rs1445944626 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:87792664 (GRCh38)
10:89552421 (GRCh37)
Canonical SPDI:: NC_000010.11:87792663:T:G
Gene:: ATAD1 (Varview), LOC124902476 (Varview)
Functional Consequence:: intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.87792664T>G, NC_000010.10:g.89552421T>G, NW_013171807.1:g.8486T>G, XM_005270252.6:c.254A>C, XM_005270252.5:c.254A>C, XM_005270252.4:c.254A>C, XM_005270252.3:c.254A>C, XM_005270252.2:c.254A>C, XM_005270252.1:c.254A>C, NM_032810.4:c.254A>C, NM_032810.3:c.254A>C, NM_032810.2:c.254A>C, XM_011540303.4:c.254A>C, XM_011540303.3:c.254A>C, XM_011540303.2:c.254A>C, XM_011540303.1:c.254A>C, XM_017016847.3:c.254A>C, XM_017016847.2:c.254A>C, XM_017016847.1:c.254A>C, XM_017016851.3:c.254A>C, XM_017016851.2:c.254A>C, XM_017016851.1:c.254A>C, XM_017016848.2:c.254A>C, XM_017016848.1:c.254A>C, NM_001321969.2:c.-194A>C, NM_001321969.1:c.-194A>C, NR_135914.2:n.327A>C, NR_135914.1:n.332A>C, NM_001321967.2:c.254A>C, NM_001321967.1:c.254A>C, NM_001321968.2:c.254A>C, NM_001321968.1:c.254A>C, XM_011540302.2:c.80A>C, XM_011540302.1:c.80A>C, XM_047425908.1:c.254A>C, XM_047425910.1:c.254A>C, XM_047425911.1:c.254A>C, XM_047425912.1:c.254A>C, XM_047425913.1:c.254A>C, XM_047425914.1:c.254A>C, XM_047425915.1:c.254A>C, XP_005270309.1:p.Asn85Thr, NP_116199.2:p.Asn85Thr, XP_011538605.1:p.Asn85Thr, XP_016872336.1:p.Asn85Thr, XP_016872340.1:p.Asn85Thr, XP_016872337.1:p.Asn85Thr, NP_001308896.1:p.Asn85Thr, NP_001308897.1:p.Asn85Thr, XP_011538604.1:p.Asn27Thr, XP_047281864.1:p.Asn85Thr, XP_047281866.1:p.Asn85Thr, XP_047281867.1:p.Asn85Thr, XP_047281868.1:p.Asn85Thr, XP_047281869.1:p.Asn85Thr, XP_047281870.1:p.Asn85Thr, XP_047281871.1:p.Asn85Thr

Select item 144530258814.

rs1445302588 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:87784552 (GRCh38)
10:89544309 (GRCh37)
Canonical SPDI:: NC_000010.11:87784551:A:G
Gene:: ATAD1 (Varview), LOC124902476 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.87784552A>G, NC_000010.10:g.89544309A>G, NW_013171807.1:g.374A>G, XM_005270252.6:c.501T>C, XM_005270252.5:c.501T>C, XM_005270252.4:c.501T>C, XM_005270252.3:c.501T>C, XM_005270252.2:c.501T>C, XM_005270252.1:c.501T>C, NM_032810.4:c.501T>C, NM_032810.3:c.501T>C, NM_032810.2:c.501T>C, XM_011540303.4:c.501T>C, XM_011540303.3:c.501T>C, XM_011540303.2:c.501T>C, XM_011540303.1:c.501T>C, XM_017016847.3:c.501T>C, XM_017016847.2:c.501T>C, XM_017016847.1:c.501T>C, XM_017016851.3:c.501T>C, XM_017016851.2:c.501T>C, XM_017016851.1:c.501T>C, XM_017016848.2:c.501T>C, XM_017016848.1:c.501T>C, NM_001321969.2:c.144T>C, NM_001321969.1:c.144T>C, NR_135914.2:n.574T>C, NR_135914.1:n.579T>C, NM_001321967.2:c.501T>C, NM_001321967.1:c.501T>C, NM_001321968.2:c.501T>C, NM_001321968.1:c.501T>C, XM_011540302.2:c.327T>C, XM_011540302.1:c.327T>C, XM_047425912.1:c.501T>C, XM_047425915.1:c.501T>C, XM_047425913.1:c.501T>C, XM_047425914.1:c.501T>C, XM_047425908.1:c.501T>C, XM_047425910.1:c.501T>C, XM_047425911.1:c.501T>C

Select item 144408496815.

rs1444084968 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:87756855 (GRCh38)
10:89516612 (GRCh37)
Canonical SPDI:: NC_000010.11:87756854:T:C
Gene:: ATAD1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.87756855T>C, NC_000010.10:g.89516612T>C, XM_005270252.6:c.899A>G, XM_005270252.5:c.899A>G, XM_005270252.4:c.899A>G, XM_005270252.3:c.899A>G, XM_005270252.2:c.899A>G, XM_005270252.1:c.899A>G, NM_032810.4:c.899A>G, NM_032810.3:c.899A>G, NM_032810.2:c.899A>G, XM_017016847.3:c.899A>G, XM_017016847.2:c.899A>G, XM_017016847.1:c.899A>G, XM_017016848.2:c.809A>G, XM_017016848.1:c.809A>G, NM_001321969.2:c.542A>G, NM_001321969.1:c.542A>G, NR_135914.2:n.1059A>G, NR_135914.1:n.1064A>G, NM_001321967.2:c.899A>G, NM_001321967.1:c.899A>G, NM_001321968.2:c.809A>G, NM_001321968.1:c.809A>G, XM_011540302.2:c.725A>G, XM_011540302.1:c.725A>G, XM_047425908.1:c.899A>G, XP_005270309.1:p.Lys300Arg, NP_116199.2:p.Lys300Arg, XP_016872336.1:p.Lys300Arg, XP_016872337.1:p.Lys270Arg, NP_001308898.1:p.Lys181Arg, NP_001308896.1:p.Lys300Arg, NP_001308897.1:p.Lys270Arg, XP_011538604.1:p.Lys242Arg, XP_047281864.1:p.Lys300Arg

Select item 144213396216.

rs1442133962 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:87756805 (GRCh38)
10:89516562 (GRCh37)
Canonical SPDI:: NC_000010.11:87756804:A:T
Gene:: ATAD1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.87756805A>T, NC_000010.10:g.89516562A>T, XM_005270252.6:c.949T>A, XM_005270252.5:c.949T>A, XM_005270252.4:c.949T>A, XM_005270252.3:c.949T>A, XM_005270252.2:c.949T>A, XM_005270252.1:c.949T>A, NM_032810.4:c.949T>A, NM_032810.3:c.949T>A, NM_032810.2:c.949T>A, XM_017016847.3:c.949T>A, XM_017016847.2:c.949T>A, XM_017016847.1:c.949T>A, XM_017016848.2:c.859T>A, XM_017016848.1:c.859T>A, NM_001321969.2:c.592T>A, NM_001321969.1:c.592T>A, NR_135914.2:n.1109T>A, NR_135914.1:n.1114T>A, NM_001321967.2:c.949T>A, NM_001321967.1:c.949T>A, NM_001321968.2:c.859T>A, NM_001321968.1:c.859T>A, XM_011540302.2:c.775T>A, XM_011540302.1:c.775T>A, XM_047425908.1:c.949T>A, XP_005270309.1:p.Ser317Thr, NP_116199.2:p.Ser317Thr, XP_016872336.1:p.Ser317Thr, XP_016872337.1:p.Ser287Thr, NP_001308898.1:p.Ser198Thr, NP_001308896.1:p.Ser317Thr, NP_001308897.1:p.Ser287Thr, XP_011538604.1:p.Ser259Thr, XP_047281864.1:p.Ser317Thr

Select item 143862752417.

rs1438627524 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:87814559 (GRCh38)
10:89574316 (GRCh37)
Canonical SPDI:: NC_000010.11:87814558:T:C
Gene:: ATAD1 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.0002/1 (ALFA)
C=0.0002/1 (Estonian)
HGVS:: NC_000010.11:g.87814559T>C, NC_000010.10:g.89574316T>C, NW_013171807.1:g.30381T>C, XM_005270252.6:c.41A>G, XM_005270252.5:c.41A>G, XM_005270252.4:c.41A>G, XM_005270252.3:c.41A>G, XM_005270252.2:c.41A>G, XM_005270252.1:c.41A>G, NM_032810.4:c.41A>G, NM_032810.3:c.41A>G, NM_032810.2:c.41A>G, XM_011540303.4:c.41A>G, XM_011540303.3:c.41A>G, XM_011540303.2:c.41A>G, XM_011540303.1:c.41A>G, XM_017016851.3:c.41A>G, XM_017016851.2:c.41A>G, XM_017016851.1:c.41A>G, XM_017016847.3:c.41A>G, XM_017016847.2:c.41A>G, XM_017016847.1:c.41A>G, XM_017016848.2:c.41A>G, XM_017016848.1:c.41A>G, NM_001321969.2:c.-407A>G, NM_001321969.1:c.-407A>G, NR_135914.2:n.114A>G, NR_135914.1:n.119A>G, NM_001321967.2:c.41A>G, NM_001321967.1:c.41A>G, NM_001321968.2:c.41A>G, NM_001321968.1:c.41A>G, XM_047425910.1:c.41A>G, XM_047425911.1:c.41A>G, XM_047425914.1:c.41A>G, XM_047425912.1:c.41A>G, XM_047425913.1:c.41A>G, XM_047425915.1:c.41A>G, XM_047425908.1:c.41A>G, XP_005270309.1:p.Asn14Ser, NP_116199.2:p.Asn14Ser, XP_011538605.1:p.Asn14Ser, XP_016872340.1:p.Asn14Ser, XP_016872336.1:p.Asn14Ser, XP_016872337.1:p.Asn14Ser, NP_001308896.1:p.Asn14Ser, NP_001308897.1:p.Asn14Ser, XP_047281866.1:p.Asn14Ser, XP_047281867.1:p.Asn14Ser, XP_047281870.1:p.Asn14Ser, XP_047281868.1:p.Asn14Ser, XP_047281869.1:p.Asn14Ser, XP_047281871.1:p.Asn14Ser, XP_047281864.1:p.Asn14Ser

Select item 143833148218.

rs1438331482 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:87784610 (GRCh38)
10:89544367 (GRCh37)
Canonical SPDI:: NC_000010.11:87784609:T:C
Gene:: ATAD1 (Varview), LOC124902476 (Varview)
Functional Consequence:: intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_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_000010.11:g.87784610T>C, NC_000010.10:g.89544367T>C, NW_013171807.1:g.432T>C, XM_005270252.6:c.443A>G, XM_005270252.5:c.443A>G, XM_005270252.4:c.443A>G, XM_005270252.3:c.443A>G, XM_005270252.2:c.443A>G, XM_005270252.1:c.443A>G, NM_032810.4:c.443A>G, NM_032810.3:c.443A>G, NM_032810.2:c.443A>G, XM_011540303.4:c.443A>G, XM_011540303.3:c.443A>G, XM_011540303.2:c.443A>G, XM_011540303.1:c.443A>G, XM_017016847.3:c.443A>G, XM_017016847.2:c.443A>G, XM_017016847.1:c.443A>G, XM_017016851.3:c.443A>G, XM_017016851.2:c.443A>G, XM_017016851.1:c.443A>G, XM_017016848.2:c.443A>G, XM_017016848.1:c.443A>G, NM_001321969.2:c.86A>G, NM_001321969.1:c.86A>G, NR_135914.2:n.516A>G, NR_135914.1:n.521A>G, NM_001321967.2:c.443A>G, NM_001321967.1:c.443A>G, NM_001321968.2:c.443A>G, NM_001321968.1:c.443A>G, XM_011540302.2:c.269A>G, XM_011540302.1:c.269A>G, XM_047425912.1:c.443A>G, XM_047425915.1:c.443A>G, XM_047425913.1:c.443A>G, XM_047425914.1:c.443A>G, XM_047425908.1:c.443A>G, XM_047425910.1:c.443A>G, XM_047425911.1:c.443A>G, XP_005270309.1:p.Lys148Arg, NP_116199.2:p.Lys148Arg, XP_011538605.1:p.Lys148Arg, XP_016872336.1:p.Lys148Arg, XP_016872340.1:p.Lys148Arg, XP_016872337.1:p.Lys148Arg, NP_001308898.1:p.Lys29Arg, NP_001308896.1:p.Lys148Arg, NP_001308897.1:p.Lys148Arg, XP_011538604.1:p.Lys90Arg, XP_047281868.1:p.Lys148Arg, XP_047281871.1:p.Lys148Arg, XP_047281869.1:p.Lys148Arg, XP_047281870.1:p.Lys148Arg, XP_047281864.1:p.Lys148Arg, XP_047281866.1:p.Lys148Arg, XP_047281867.1:p.Lys148Arg

Select item 143824309919.

rs1438243099 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 10:87790337 (GRCh38)
10:89550094 (GRCh37)
Canonical SPDI:: NC_000010.11:87790336:T:A
Gene:: ATAD1 (Varview), LOC124902476 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.87790337T>A, NC_000010.10:g.89550094T>A, NW_013171807.1:g.6159T>A, XM_005270252.6:c.355A>T, XM_005270252.5:c.355A>T, XM_005270252.4:c.355A>T, XM_005270252.3:c.355A>T, XM_005270252.2:c.355A>T, XM_005270252.1:c.355A>T, NM_032810.4:c.355A>T, NM_032810.3:c.355A>T, NM_032810.2:c.355A>T, XM_011540303.4:c.355A>T, XM_011540303.3:c.355A>T, XM_011540303.2:c.355A>T, XM_011540303.1:c.355A>T, XM_017016847.3:c.355A>T, XM_017016847.2:c.355A>T, XM_017016847.1:c.355A>T, XM_017016851.3:c.355A>T, XM_017016851.2:c.355A>T, XM_017016851.1:c.355A>T, XM_017016848.2:c.355A>T, XM_017016848.1:c.355A>T, NM_001321969.2:c.-93A>T, NM_001321969.1:c.-93A>T, NR_135914.2:n.428A>T, NR_135914.1:n.433A>T, NM_001321967.2:c.355A>T, NM_001321967.1:c.355A>T, NM_001321968.2:c.355A>T, NM_001321968.1:c.355A>T, XM_011540302.2:c.181A>T, XM_011540302.1:c.181A>T, XM_047425912.1:c.355A>T, XM_047425915.1:c.355A>T, XM_047425913.1:c.355A>T, XM_047425914.1:c.355A>T, XM_047425908.1:c.355A>T, XM_047425910.1:c.355A>T, XM_047425911.1:c.355A>T, XP_005270309.1:p.Asn119Tyr, NP_116199.2:p.Asn119Tyr, XP_011538605.1:p.Asn119Tyr, XP_016872336.1:p.Asn119Tyr, XP_016872340.1:p.Asn119Tyr, XP_016872337.1:p.Asn119Tyr, NP_001308896.1:p.Asn119Tyr, NP_001308897.1:p.Asn119Tyr, XP_011538604.1:p.Asn61Tyr, XP_047281868.1:p.Asn119Tyr, XP_047281871.1:p.Asn119Tyr, XP_047281869.1:p.Asn119Tyr, XP_047281870.1:p.Asn119Tyr, XP_047281864.1:p.Asn119Tyr, XP_047281866.1:p.Asn119Tyr, XP_047281867.1:p.Asn119Tyr

Select item 143533259120.

rs1435332591 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:87776324 (GRCh38)
10:89536081 (GRCh37)
Canonical SPDI:: NC_000010.11:87776323:G:A
Gene:: ATAD1 (Varview), LOC124902476 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant
HGVS:: NC_000010.11:g.87776324G>A, NC_000010.10:g.89536081G>A, XM_005270252.6:c.687C>T, XM_005270252.5:c.687C>T, XM_005270252.4:c.687C>T, XM_005270252.3:c.687C>T, XM_005270252.2:c.687C>T, XM_005270252.1:c.687C>T, NM_032810.4:c.687C>T, NM_032810.3:c.687C>T, NM_032810.2:c.687C>T, XM_011540303.4:c.687C>T, XM_011540303.3:c.687C>T, XM_011540303.2:c.687C>T, XM_011540303.1:c.687C>T, XM_017016847.3:c.687C>T, XM_017016847.2:c.687C>T, XM_017016847.1:c.687C>T, XM_017016848.2:c.687C>T, XM_017016848.1:c.687C>T, NM_001321969.2:c.330C>T, NM_001321969.1:c.330C>T, NR_135914.2:n.760C>T, NR_135914.1:n.765C>T, NM_001321967.2:c.687C>T, NM_001321967.1:c.687C>T, NM_001321968.2:c.687C>T, NM_001321968.1:c.687C>T, XM_011540302.2:c.513C>T, XM_011540302.1:c.513C>T, XM_047425908.1:c.687C>T, XM_047425910.1:c.687C>T, XM_047425911.1:c.687C>T, XM_047425912.1:c.687C>T, XM_047425913.1:c.687C>T

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