SNP Links for Nucleotide (Select 392306970) - SNP

Links from Nucleotide

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Select item 14895613711.

rs1489561371 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 11:46408682 (GRCh38)
11:46430232 (GRCh37)
Canonical SPDI:: NC_000011.10:46408681:T:
Gene:: AMBRA1 (Varview)
Functional Consequence:: frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.46408682del, NC_000011.9:g.46430232del, NM_017749.3:c.2964del, NM_001267782.2:c.3243del, NM_001267782.1:c.3243del, NM_001300731.2:c.3054del, NM_001300731.1:c.3054del, NM_001267783.2:c.2877del, NM_001267783.1:c.2877del, NM_001367468.1:c.3234del, NM_001387011.1:c.3234del, NR_160027.1:n.3397del, NM_001367471.1:c.2964del, NM_001367470.1:c.2427del, NM_001367469.1:c.2697del, NP_060219.2:p.Asp989fs, NP_001254711.1:p.Asp1082fs, NP_001287660.1:p.Asp1019fs, NP_001254712.1:p.Asp960fs, NP_001354397.1:p.Asp1079fs, NP_001373940.1:p.Asp1079fs, NP_001354400.1:p.Asp989fs, NP_001354399.1:p.Asp810fs, NP_001354398.1:p.Asp900fs

Select item 14893573772.

rs1489357377 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:46542326 (GRCh38)
11:46563876 (GRCh37)
Canonical SPDI:: NC_000011.10:46542325:T:G
Gene:: AMBRA1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.46542326T>G, NC_000011.9:g.46563876T>G, NG_079276.1:g.468T>G, NM_017749.3:c.1421A>C, NM_001267782.2:c.1421A>C, NM_001267782.1:c.1421A>C, NM_001300731.2:c.1691A>C, NM_001300731.1:c.1691A>C, NM_001267783.2:c.1421A>C, NM_001267783.1:c.1421A>C, NM_001367468.1:c.1691A>C, NM_001387011.1:c.1691A>C, NR_160027.1:n.1731A>C, NM_001367471.1:c.1421A>C, NM_001367470.1:c.884A>C, NM_001367469.1:c.1421A>C, NP_060219.2:p.His474Pro, NP_001254711.1:p.His474Pro, NP_001287660.1:p.His564Pro, NP_001254712.1:p.His474Pro, NP_001354397.1:p.His564Pro, NP_001373940.1:p.His564Pro, NP_001354400.1:p.His474Pro, NP_001354399.1:p.His295Pro, NP_001354398.1:p.His474Pro

Select item 14893268613.

rs1489326861 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:46508348 (GRCh38)
11:46529898 (GRCh37)
Canonical SPDI:: NC_000011.10:46508347:C:T
Gene:: AMBRA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000051/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.46508348C>T, NC_000011.9:g.46529898C>T, NM_017749.3:c.1912G>A, NM_001267782.2:c.2191G>A, NM_001267782.1:c.2191G>A, NM_001267783.2:c.1825G>A, NM_001267783.1:c.1825G>A, NM_001367468.1:c.2182G>A, NM_001387011.1:c.2182G>A, NM_001367471.1:c.1912G>A, NM_001367470.1:c.1375G>A, NP_060219.2:p.Ala638Thr, NP_001254711.1:p.Ala731Thr, NP_001254712.1:p.Ala609Thr, NP_001354397.1:p.Ala728Thr, NP_001373940.1:p.Ala728Thr, NP_001354400.1:p.Ala638Thr, NP_001354399.1:p.Ala459Thr

Select item 14886459184.

rs1488645918 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:46541985 (GRCh38)
11:46563535 (GRCh37)
Canonical SPDI:: NC_000011.10:46541984:C:A
Gene:: AMBRA1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000031/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.46541985C>A, NC_000011.9:g.46563535C>A, NG_079276.1:g.127C>A, NM_017749.3:c.1762G>T, NM_001267782.2:c.1762G>T, NM_001267782.1:c.1762G>T, NM_001300731.2:c.2032G>T, NM_001300731.1:c.2032G>T, NM_001267783.2:c.1762G>T, NM_001267783.1:c.1762G>T, NM_001367468.1:c.2032G>T, NM_001387011.1:c.2032G>T, NR_160027.1:n.2072G>T, NM_001367471.1:c.1762G>T, NM_001367470.1:c.1225G>T, NM_001367469.1:c.1762G>T, NP_060219.2:p.Asp588Tyr, NP_001254711.1:p.Asp588Tyr, NP_001287660.1:p.Asp678Tyr, NP_001254712.1:p.Asp588Tyr, NP_001354397.1:p.Asp678Tyr, NP_001373940.1:p.Asp678Tyr, NP_001354400.1:p.Asp588Tyr, NP_001354399.1:p.Asp409Tyr, NP_001354398.1:p.Asp588Tyr

Select item 14882672275.

rs1488267227 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:46396436 (GRCh38)
11:46417986 (GRCh37)
Canonical SPDI:: NC_000011.10:46396435:T:C
Gene:: AMBRA1 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.46396436T>C, NC_000011.9:g.46417986T>C, NM_017749.3:c.*1014A>G, NM_001267782.2:c.*1014A>G, NM_001267782.1:c.*1014A>G, NM_001300731.2:c.*1014A>G, NM_001300731.1:c.*1014A>G, NM_001267783.2:c.*1014A>G, NM_001267783.1:c.*1014A>G, NM_001367468.1:c.*1014A>G, NM_001387011.1:c.*1014A>G, NR_160027.1:n.5074A>G, NM_001367471.1:c.*1014A>G, NM_001367470.1:c.*1014A>G, NM_001367469.1:c.*1014A>G

Select item 14881341656.

rs1488134165 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:46397216 (GRCh38)
11:46418766 (GRCh37)
Canonical SPDI:: NC_000011.10:46397215:A:G
Gene:: AMBRA1 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000026/7 (TOPMED)
G=0.000043/6 (GnomAD)
HGVS:: NC_000011.10:g.46397216A>G, NC_000011.9:g.46418766A>G, NM_017749.3:c.*234T>C, NM_001267782.2:c.*234T>C, NM_001267782.1:c.*234T>C, NM_001300731.2:c.*234T>C, NM_001300731.1:c.*234T>C, NM_001267783.2:c.*234T>C, NM_001267783.1:c.*234T>C, NM_001367468.1:c.*234T>C, NM_001387011.1:c.*234T>C, NR_160027.1:n.4294T>C, NM_001367471.1:c.*234T>C, NM_001367470.1:c.*234T>C, NM_001367469.1:c.*234T>C

Select item 14872696287.

rs1487269628 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:46547116 (GRCh38)
11:46568666 (GRCh37)
Canonical SPDI:: NC_000011.10:46547115:T:C
Gene:: AMBRA1 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.46547116T>C, NC_000011.9:g.46568666T>C, NM_017749.3:c.375A>G, NM_001267782.2:c.375A>G, NM_001267782.1:c.375A>G, NM_001300731.2:c.375A>G, NM_001300731.1:c.375A>G, NM_001267783.2:c.375A>G, NM_001267783.1:c.375A>G, NM_001367468.1:c.375A>G, NM_001387011.1:c.375A>G, NR_160027.1:n.685A>G, NM_001367471.1:c.375A>G, NM_001367470.1:c.-163A>G, NM_001367469.1:c.375A>G

Select item 14871004938.

rs1487100493 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:46548472 (GRCh38)
11:46570022 (GRCh37)
Canonical SPDI:: NC_000011.10:46548471:A:G
Gene:: AMBRA1 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_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_000011.10:g.46548472A>G, NC_000011.9:g.46570022A>G, NM_017749.3:c.-92T>C, NM_001267782.2:c.-92T>C, NM_001267782.1:c.-92T>C, NM_001300731.2:c.-92T>C, NM_001300731.1:c.-92T>C, NM_001267783.2:c.-92T>C, NM_001267783.1:c.-92T>C, NM_001367468.1:c.-92T>C, NM_001387011.1:c.-92T>C, NR_160027.1:n.219T>C, NM_001367471.1:c.-92T>C, NM_001367470.1:c.-618T>C, NM_001367469.1:c.-92T>C

Select item 14859506489.

rs1485950648 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:46418012 (GRCh38)
11:46439562 (GRCh37)
Canonical SPDI:: NC_000011.10:46418011:C:T
Gene:: AMBRA1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.46418012C>T, NC_000011.9:g.46439562C>T, NM_017749.3:c.2747G>A, NM_001267782.2:c.3026G>A, NM_001267782.1:c.3026G>A, NM_001300731.2:c.2837G>A, NM_001300731.1:c.2837G>A, NM_001267783.2:c.2660G>A, NM_001267783.1:c.2660G>A, NM_001367468.1:c.3017G>A, NM_001387011.1:c.3017G>A, NR_160027.1:n.2987G>A, NM_001367471.1:c.2747G>A, NM_001367470.1:c.2210G>A, NM_001367469.1:c.2480G>A, NP_060219.2:p.Arg916Gln, NP_001254711.1:p.Arg1009Gln, NP_001287660.1:p.Arg946Gln, NP_001254712.1:p.Arg887Gln, NP_001354397.1:p.Arg1006Gln, NP_001373940.1:p.Arg1006Gln, NP_001354400.1:p.Arg916Gln, NP_001354399.1:p.Arg737Gln, NP_001354398.1:p.Arg827Gln

Select item 148516750410.

rs1485167504 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:46434866 (GRCh38)
11:46456416 (GRCh37)
Canonical SPDI:: NC_000011.10:46434865:A:G
Gene:: AMBRA1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.46434866A>G, NC_000011.9:g.46456416A>G, NM_017749.3:c.2534T>C, NM_001267782.2:c.2813T>C, NM_001267782.1:c.2813T>C, NM_001300731.2:c.2624T>C, NM_001300731.1:c.2624T>C, NM_001267783.2:c.2447T>C, NM_001267783.1:c.2447T>C, NM_001367468.1:c.2804T>C, NM_001387011.1:c.2804T>C, NR_160027.1:n.2577T>C, NM_001367471.1:c.2534T>C, NM_001367470.1:c.1997T>C, NM_001367469.1:c.2267T>C, NP_060219.2:p.Leu845Pro, NP_001254711.1:p.Leu938Pro, NP_001287660.1:p.Leu875Pro, NP_001254712.1:p.Leu816Pro, NP_001354397.1:p.Leu935Pro, NP_001373940.1:p.Leu935Pro, NP_001354400.1:p.Leu845Pro, NP_001354399.1:p.Leu666Pro, NP_001354398.1:p.Leu756Pro

Select item 148504187711.

rs1485041877 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 11:46397737 (GRCh38)
11:46419287 (GRCh37)
Canonical SPDI:: NC_000011.10:46397736:A:
Gene:: AMBRA1 (Varview)
Functional Consequence:: frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.46397737del, NC_000011.9:g.46419287del, NM_017749.3:c.3340del, NM_001267782.2:c.3619del, NM_001267782.1:c.3619del, NM_001300731.2:c.3430del, NM_001300731.1:c.3430del, NM_001267783.2:c.3253del, NM_001267783.1:c.3253del, NM_001367468.1:c.3610del, NM_001387011.1:c.3610del, NR_160027.1:n.3773del, NM_001367471.1:c.3340del, NM_001367470.1:c.2803del, NM_001367469.1:c.3073del, NP_060219.2:p.Ser1114fs, NP_001254711.1:p.Ser1207fs, NP_001287660.1:p.Ser1144fs, NP_001254712.1:p.Ser1085fs, NP_001354397.1:p.Ser1204fs, NP_001373940.1:p.Ser1204fs, NP_001354400.1:p.Ser1114fs, NP_001354399.1:p.Ser935fs, NP_001354398.1:p.Ser1025fs

Select item 148364059612.

rs1483640596 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 11:46397487 (GRCh38)
11:46419038 (GRCh37)
Canonical SPDI:: NC_000011.10:46397487:CCCCCC:CCCCCCC
Gene:: AMBRA1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCC=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.46397493dup, NC_000011.9:g.46419043dup, NM_017749.3:c.3589dup, NM_001267782.2:c.3868dup, NM_001267782.1:c.3868dup, NM_001300731.2:c.3679dup, NM_001300731.1:c.3679dup, NM_001267783.2:c.3502dup, NM_001267783.1:c.3502dup, NM_001367468.1:c.3859dup, NM_001387011.1:c.3859dup, NR_160027.1:n.4022dup, NM_001367471.1:c.3589dup, NM_001367470.1:c.3052dup, NM_001367469.1:c.3322dup, NP_060219.2:p.Asp1197fs, NP_001254711.1:p.Asp1290fs, NP_001287660.1:p.Asp1227fs, NP_001254712.1:p.Asp1168fs, NP_001354397.1:p.Asp1287fs, NP_001373940.1:p.Asp1287fs, NP_001354400.1:p.Asp1197fs, NP_001354399.1:p.Asp1018fs, NP_001354398.1:p.Asp1108fs

Select item 148307587713.

rs1483075877 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:46542214 (GRCh38)
11:46563764 (GRCh37)
Canonical SPDI:: NC_000011.10:46542213:C:T
Gene:: AMBRA1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000011.10:g.46542214C>T, NC_000011.9:g.46563764C>T, NG_079276.1:g.356C>T, NM_017749.3:c.1533G>A, NM_001267782.2:c.1533G>A, NM_001267782.1:c.1533G>A, NM_001300731.2:c.1803G>A, NM_001300731.1:c.1803G>A, NM_001267783.2:c.1533G>A, NM_001267783.1:c.1533G>A, NM_001367468.1:c.1803G>A, NM_001387011.1:c.1803G>A, NR_160027.1:n.1843G>A, NM_001367471.1:c.1533G>A, NM_001367470.1:c.996G>A, NM_001367469.1:c.1533G>A

Select item 148298767514.

rs1482987675 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 11:46396673 (GRCh38)
11:46418224 (GRCh37)
Canonical SPDI:: NC_000011.10:46396673:G:GG
Gene:: AMBRA1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000042/11 (TOPMED)
HGVS:: NC_000011.10:g.46396674dup, NC_000011.9:g.46418224dup, NM_017749.3:c.*776dup, NM_001267782.2:c.*776dup, NM_001267782.1:c.*776dup, NM_001300731.2:c.*776dup, NM_001300731.1:c.*776dup, NM_001267783.2:c.*776dup, NM_001267783.1:c.*776dup, NM_001367468.1:c.*776dup, NM_001387011.1:c.*776dup, NR_160027.1:n.4836dup, NM_001367471.1:c.*776dup, NM_001367470.1:c.*776dup, NM_001367469.1:c.*776dup

Select item 148258366515.

rs1482583665 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:46434924 (GRCh38)
11:46456474 (GRCh37)
Canonical SPDI:: NC_000011.10:46434923:G:A
Gene:: AMBRA1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.46434924G>A, NC_000011.9:g.46456474G>A, NM_017749.3:c.2476C>T, NM_001267782.2:c.2755C>T, NM_001267782.1:c.2755C>T, NM_001300731.2:c.2566C>T, NM_001300731.1:c.2566C>T, NM_001267783.2:c.2389C>T, NM_001267783.1:c.2389C>T, NM_001367468.1:c.2746C>T, NM_001387011.1:c.2746C>T, NR_160027.1:n.2519C>T, NM_001367471.1:c.2476C>T, NM_001367470.1:c.1939C>T, NM_001367469.1:c.2209C>T, NP_060219.2:p.Pro826Ser, NP_001254711.1:p.Pro919Ser, NP_001287660.1:p.Pro856Ser, NP_001254712.1:p.Pro797Ser, NP_001354397.1:p.Pro916Ser, NP_001373940.1:p.Pro916Ser, NP_001354400.1:p.Pro826Ser, NP_001354399.1:p.Pro647Ser, NP_001354398.1:p.Pro737Ser

Select item 148251153416.

rs1482511534 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 11:46396787 (GRCh38)
11:46418337 (GRCh37)
Canonical SPDI:: NC_000011.10:46396786:A:G,NC_000011.10:46396786:A:T
Gene:: AMBRA1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.46396787A>G, NC_000011.10:g.46396787A>T, NC_000011.9:g.46418337A>G, NC_000011.9:g.46418337A>T, NM_017749.3:c.*663T>C, NM_017749.3:c.*663T>A, NM_001267782.2:c.*663T>C, NM_001267782.2:c.*663T>A, NM_001267782.1:c.*663T>C, NM_001267782.1:c.*663T>A, NM_001300731.2:c.*663T>C, NM_001300731.2:c.*663T>A, NM_001300731.1:c.*663T>C, NM_001300731.1:c.*663T>A, NM_001267783.2:c.*663T>C, NM_001267783.2:c.*663T>A, NM_001267783.1:c.*663T>C, NM_001267783.1:c.*663T>A, NM_001367468.1:c.*663T>C, NM_001367468.1:c.*663T>A, NM_001387011.1:c.*663T>C, NM_001387011.1:c.*663T>A, NR_160027.1:n.4723T>C, NR_160027.1:n.4723T>A, NM_001367471.1:c.*663T>C, NM_001367471.1:c.*663T>A, NM_001367470.1:c.*663T>C, NM_001367470.1:c.*663T>A, NM_001367469.1:c.*663T>C, NM_001367469.1:c.*663T>A

Select item 148211098317.

rs1482110983 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 11:46543324 (GRCh38)
11:46564874 (GRCh37)
Canonical SPDI:: NC_000011.10:46543323:T:C,NC_000011.10:46543323:T:G
Gene:: AMBRA1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000051/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.00655/12 (Korea1K)
HGVS:: NC_000011.10:g.46543324T>C, NC_000011.10:g.46543324T>G, NC_000011.9:g.46564874T>C, NC_000011.9:g.46564874T>G, NM_017749.3:c.693A>G, NM_017749.3:c.693A>C, NM_001267782.2:c.693A>G, NM_001267782.2:c.693A>C, NM_001267782.1:c.693A>G, NM_001267782.1:c.693A>C, NM_001300731.2:c.693A>G, NM_001300731.2:c.693A>C, NM_001300731.1:c.693A>G, NM_001300731.1:c.693A>C, NM_001267783.2:c.693A>G, NM_001267783.2:c.693A>C, NM_001267783.1:c.693A>G, NM_001267783.1:c.693A>C, NM_001367468.1:c.693A>G, NM_001367468.1:c.693A>C, NM_001387011.1:c.693A>G, NM_001387011.1:c.693A>C, NR_160027.1:n.1003A>G, NR_160027.1:n.1003A>C, NM_001367471.1:c.693A>G, NM_001367471.1:c.693A>C, NM_001367470.1:c.156A>G, NM_001367470.1:c.156A>C, NM_001367469.1:c.693A>G, NM_001367469.1:c.693A>C

Select item 148200233818.

rs1482002338 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:46397055 (GRCh38)
11:46418605 (GRCh37)
Canonical SPDI:: NC_000011.10:46397054:G:A,NC_000011.10:46397054:G:C
Gene:: AMBRA1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000011.10:g.46397055G>A, NC_000011.10:g.46397055G>C, NC_000011.9:g.46418605G>A, NC_000011.9:g.46418605G>C, NM_017749.3:c.*395C>T, NM_017749.3:c.*395C>G, NM_001267782.2:c.*395C>T, NM_001267782.2:c.*395C>G, NM_001267782.1:c.*395C>T, NM_001267782.1:c.*395C>G, NM_001300731.2:c.*395C>T, NM_001300731.2:c.*395C>G, NM_001300731.1:c.*395C>T, NM_001300731.1:c.*395C>G, NM_001267783.2:c.*395C>T, NM_001267783.2:c.*395C>G, NM_001267783.1:c.*395C>T, NM_001267783.1:c.*395C>G, NM_001367468.1:c.*395C>T, NM_001367468.1:c.*395C>G, NM_001387011.1:c.*395C>T, NM_001387011.1:c.*395C>G, NR_160027.1:n.4455C>T, NR_160027.1:n.4455C>G, NM_001367471.1:c.*395C>T, NM_001367471.1:c.*395C>G, NM_001367470.1:c.*395C>T, NM_001367470.1:c.*395C>G, NM_001367469.1:c.*395C>T, NM_001367469.1:c.*395C>G

Select item 148192566819.

rs1481925668 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:46545705 (GRCh38)
11:46567255 (GRCh37)
Canonical SPDI:: NC_000011.10:46545704:C:T
Gene:: AMBRA1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,coding_sequence_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)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000011.10:g.46545705C>T, NC_000011.9:g.46567255C>T, NM_017749.3:c.450G>A, NM_001267782.2:c.450G>A, NM_001267782.1:c.450G>A, NM_001300731.2:c.450G>A, NM_001300731.1:c.450G>A, NM_001267783.2:c.450G>A, NM_001267783.1:c.450G>A, NM_001367468.1:c.450G>A, NM_001387011.1:c.450G>A, NR_160027.1:n.760G>A, NM_001367471.1:c.450G>A, NM_001367470.1:c.-88G>A, NM_001367469.1:c.450G>A

Select item 148082639820.

rs1480826398 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAG>- [Show Flanks]
Chromosome:: 11:46542242 (GRCh38)
11:46563792 (GRCh37)
Canonical SPDI:: NC_000011.10:46542238:GAGGAG:GAG
Gene:: AMBRA1 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGGAG=0.000071/1 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.46542239GAG[1], NC_000011.9:g.46563789GAG[1], NG_079276.1:g.381GAG[1], NM_017749.3:c.1503CTC[1], NM_001267782.2:c.1503CTC[1], NM_001267782.1:c.1503CTC[1], NM_001300731.2:c.1773CTC[1], NM_001300731.1:c.1773CTC[1], NM_001267783.2:c.1503CTC[1], NM_001267783.1:c.1503CTC[1], NM_001367468.1:c.1773CTC[1], NM_001387011.1:c.1773CTC[1], NR_160027.1:n.1813CTC[1], NM_001367471.1:c.1503CTC[1], NM_001367470.1:c.966CTC[1], NM_001367469.1:c.1503CTC[1], NP_060219.2:p.Ser503del, NP_001254711.1:p.Ser503del, NP_001287660.1:p.Ser593del, NP_001254712.1:p.Ser503del, NP_001354397.1:p.Ser593del, NP_001373940.1:p.Ser593del, NP_001354400.1:p.Ser503del, NP_001354399.1:p.Ser324del, NP_001354398.1:p.Ser503del

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