SNP Links for Nucleotide (Select 554790423) - SNP

Links from Nucleotide

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Select item 14905746481.

rs1490574648 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 6:106185893 (GRCh38)
6:106633768 (GRCh37)
Canonical SPDI:: NC_000006.12:106185892:T:C,NC_000006.12:106185892:T:G
Gene:: ATG5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.106185893T>C, NC_000006.12:g.106185893T>G, NC_000006.11:g.106633768T>C, NC_000006.11:g.106633768T>G, NM_004849.4:c.*647A>G, NM_004849.4:c.*647A>C, NM_004849.3:c.*647A>G, NM_004849.3:c.*647A>C, NM_004849.2:c.*647A>G, NM_004849.2:c.*647A>C, NM_001286108.2:c.*829A>G, NM_001286108.2:c.*829A>C, NM_001286108.1:c.*829A>G, NM_001286108.1:c.*829A>C, NM_001286106.2:c.*647A>G, NM_001286106.2:c.*647A>C, NM_001286106.1:c.*647A>G, NM_001286106.1:c.*647A>C, NM_001286107.2:c.*647A>G, NM_001286107.2:c.*647A>C, NM_001286107.1:c.*647A>G, NM_001286107.1:c.*647A>C, XM_024446590.2:c.*647A>G, XM_024446590.2:c.*647A>C, XM_024446590.1:c.*647A>G, XM_024446590.1:c.*647A>C, NM_001286111.2:c.*829A>G, NM_001286111.2:c.*829A>C, NM_001286111.1:c.*829A>G, NM_001286111.1:c.*829A>C, XM_047419574.1:c.*647A>G, XM_047419574.1:c.*647A>C, NR_104402.1:n.1438A>G, NR_104402.1:n.1438A>C, NR_104403.1:n.1310A>G, NR_104403.1:n.1310A>C

Select item 14897185482.

rs1489718548 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:106184839 (GRCh38)
6:106632714 (GRCh37)
Canonical SPDI:: NC_000006.12:106184838:C:A
Gene:: ATG5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000006.12:g.106184839C>A, NC_000006.11:g.106632714C>A, NM_004849.4:c.*1701G>T, NM_004849.3:c.*1701G>T, NM_004849.2:c.*1701G>T, NM_001286108.2:c.*1883G>T, NM_001286108.1:c.*1883G>T, NM_001286106.2:c.*1701G>T, NM_001286106.1:c.*1701G>T, NM_001286107.2:c.*1701G>T, NM_001286107.1:c.*1701G>T, XM_024446590.2:c.*1701G>T, NM_001286111.2:c.*1883G>T, NM_001286111.1:c.*1883G>T, XM_047419574.1:c.*1701G>T, NR_104402.1:n.2492G>T, NR_104403.1:n.2364G>T

Select item 14871067783.

rs1487106778 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:106186259 (GRCh38)
6:106634134 (GRCh37)
Canonical SPDI:: NC_000006.12:106186258:G:A
Gene:: ATG5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.106186259G>A, NC_000006.11:g.106634134G>A, NM_004849.4:c.*281C>T, NM_004849.3:c.*281C>T, NM_004849.2:c.*281C>T, NM_001286108.2:c.*463C>T, NM_001286108.1:c.*463C>T, NM_001286106.2:c.*281C>T, NM_001286106.1:c.*281C>T, NM_001286107.2:c.*281C>T, NM_001286107.1:c.*281C>T, XM_024446590.2:c.*281C>T, XM_024446590.1:c.*281C>T, NM_001286111.2:c.*463C>T, NM_001286111.1:c.*463C>T, XM_047419574.1:c.*281C>T, NR_104402.1:n.1072C>T, NR_104403.1:n.944C>T

Select item 14856785644.

rs1485678564 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 6:106185596 (GRCh38)
6:106633471 (GRCh37)
Canonical SPDI:: NC_000006.12:106185595:AAAAA:AAAA
Gene:: ATG5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0.0002/1 (ALFA)
-=0.0002/1 (Estonian)
HGVS:: NC_000006.12:g.106185600del, NC_000006.11:g.106633475del, NM_004849.4:c.*944del, NM_004849.3:c.*944del, NM_004849.2:c.*944del, NM_001286108.2:c.*1126del, NM_001286108.1:c.*1126del, NM_001286106.2:c.*944del, NM_001286106.1:c.*944del, NM_001286107.2:c.*944del, NM_001286107.1:c.*944del, XM_024446590.2:c.*944del, NM_001286111.2:c.*1126del, NM_001286111.1:c.*1126del, XM_047419574.1:c.*944del, NR_104402.1:n.1735del, NR_104403.1:n.1607del

Select item 14849115165.

rs1484911516 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:106316234 (GRCh38)
6:106764109 (GRCh37)
Canonical SPDI:: NC_000006.12:106316233:A:G
Gene:: ATG5 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.106316234A>G, NC_000006.11:g.106764109A>G, NM_004849.4:c.-26T>C, NM_004849.3:c.-26T>C, NM_004849.2:c.-26T>C, NM_001286108.2:c.-26T>C, NM_001286108.1:c.-26T>C, NM_001286106.2:c.-26T>C, NM_001286106.1:c.-26T>C, NM_001286107.2:c.-132T>C, NM_001286107.1:c.-132T>C, XM_024446590.2:c.-132T>C, XM_024446590.1:c.-132T>C, NM_001286111.2:c.-26T>C, NM_001286111.1:c.-26T>C, NR_104402.1:n.33T>C, NR_104403.1:n.33T>C, XM_047419573.1:c.-26T>C

Select item 14839455946.

rs1483945594 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:106184881 (GRCh38)
6:106632756 (GRCh37)
Canonical SPDI:: NC_000006.12:106184880:C:T
Gene:: ATG5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000023/6 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000006.12:g.106184881C>T, NC_000006.11:g.106632756C>T, NM_004849.4:c.*1659G>A, NM_004849.3:c.*1659G>A, NM_004849.2:c.*1659G>A, NM_001286108.2:c.*1841G>A, NM_001286108.1:c.*1841G>A, NM_001286106.2:c.*1659G>A, NM_001286106.1:c.*1659G>A, NM_001286107.2:c.*1659G>A, NM_001286107.1:c.*1659G>A, XM_024446590.2:c.*1659G>A, NM_001286111.2:c.*1841G>A, NM_001286111.1:c.*1841G>A, XM_047419574.1:c.*1659G>A, NR_104402.1:n.2450G>A, NR_104403.1:n.2322G>A

Select item 14832771857.

rs1483277185 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:106293053 (GRCh38)
6:106740928 (GRCh37)
Canonical SPDI:: NC_000006.12:106293052:G:A
Gene:: ATG5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.106293053G>A, NC_000006.11:g.106740928G>A, NM_004849.4:c.290C>T, NM_004849.3:c.290C>T, NM_004849.2:c.290C>T, NM_001286108.2:c.290C>T, NM_001286108.1:c.290C>T, NM_001286106.2:c.290C>T, NM_001286106.1:c.290C>T, NM_001286107.2:c.56C>T, NM_001286107.1:c.56C>T, XM_024446590.2:c.56C>T, XM_024446590.1:c.56C>T, NR_104402.1:n.348C>T, NR_104403.1:n.220C>T, XM_047419573.1:c.290C>T, NP_004840.1:p.Pro97Leu, NP_001273037.1:p.Pro97Leu, NP_001273035.1:p.Pro97Leu, NP_001273036.1:p.Pro19Leu, XP_024302358.1:p.Pro19Leu, XP_047275529.1:p.Pro97Leu

Select item 14825381918.

rs1482538191 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:106185315 (GRCh38)
6:106633190 (GRCh37)
Canonical SPDI:: NC_000006.12:106185314:G:A
Gene:: ATG5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_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_000006.12:g.106185315G>A, NC_000006.11:g.106633190G>A, NM_004849.4:c.*1225C>T, NM_004849.3:c.*1225C>T, NM_004849.2:c.*1225C>T, NM_001286108.2:c.*1407C>T, NM_001286108.1:c.*1407C>T, NM_001286106.2:c.*1225C>T, NM_001286106.1:c.*1225C>T, NM_001286107.2:c.*1225C>T, NM_001286107.1:c.*1225C>T, XM_024446590.2:c.*1225C>T, NM_001286111.2:c.*1407C>T, NM_001286111.1:c.*1407C>T, XM_047419574.1:c.*1225C>T, NR_104402.1:n.2016C>T, NR_104403.1:n.1888C>T

Select item 14823112469.

rs1482311246 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:106279798 (GRCh38)
6:106727673 (GRCh37)
Canonical SPDI:: NC_000006.12:106279797:T:C
Gene:: ATG5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.106279798T>C, NC_000006.11:g.106727673T>C, NM_004849.4:c.341A>G, NM_004849.3:c.341A>G, NM_004849.2:c.341A>G, NM_001286108.2:c.341A>G, NM_001286108.1:c.341A>G, NM_001286106.2:c.341A>G, NM_001286106.1:c.341A>G, NM_001286107.2:c.107A>G, NM_001286107.1:c.107A>G, XM_024446590.2:c.107A>G, XM_024446590.1:c.107A>G, XM_047419574.1:c.131A>G, NR_104402.1:n.399A>G, NR_104403.1:n.271A>G, XM_047419573.1:c.341A>G, NP_004840.1:p.His114Arg, NP_001273037.1:p.His114Arg, NP_001273035.1:p.His114Arg, NP_001273036.1:p.His36Arg, XP_024302358.1:p.His36Arg, XP_047275530.1:p.His44Arg, XP_047275529.1:p.His114Arg

Select item 148067083210.

rs1480670832 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:106185611 (GRCh38)
6:106633486 (GRCh37)
Canonical SPDI:: NC_000006.12:106185610:G:A
Gene:: ATG5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_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_000006.12:g.106185611G>A, NC_000006.11:g.106633486G>A, NM_004849.4:c.*929C>T, NM_004849.3:c.*929C>T, NM_004849.2:c.*929C>T, NM_001286108.2:c.*1111C>T, NM_001286108.1:c.*1111C>T, NM_001286106.2:c.*929C>T, NM_001286106.1:c.*929C>T, NM_001286107.2:c.*929C>T, NM_001286107.1:c.*929C>T, XM_024446590.2:c.*929C>T, NM_001286111.2:c.*1111C>T, NM_001286111.1:c.*1111C>T, XM_047419574.1:c.*929C>T, NR_104402.1:n.1720C>T, NR_104403.1:n.1592C>T

Select item 147578502011.

rs1475785020 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:106201980 (GRCh38)
6:106649855 (GRCh37)
Canonical SPDI:: NC_000006.12:106201979:T:A
Gene:: ATG5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.106201980T>A, NC_000006.11:g.106649855T>A, NM_004849.4:c.683A>T, NM_004849.3:c.683A>T, NM_004849.2:c.683A>T, NM_001286108.2:c.*37A>T, NM_001286108.1:c.*37A>T, NM_001286106.2:c.683A>T, NM_001286106.1:c.683A>T, NM_001286107.2:c.449A>T, NM_001286107.1:c.449A>T, XM_024446590.2:c.449A>T, XM_024446590.1:c.449A>T, NM_001286111.2:c.*37A>T, NM_001286111.1:c.*37A>T, XM_047419574.1:c.473A>T, NR_104402.1:n.646A>T, NR_104403.1:n.518A>T, NP_004840.1:p.Asp228Val, NP_001273035.1:p.Asp228Val, NP_001273036.1:p.Asp150Val, XP_024302358.1:p.Asp150Val, XP_047275530.1:p.Asp158Val

Select item 147351581912.

rs1473515819 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,TT,TTTT [Show Flanks]
Chromosome:: 6:106184990 (GRCh38)
6:106632865 (GRCh37)
Canonical SPDI:: NC_000006.12:106184985:TTTTTTT:TTTT,NC_000006.12:106184985:TTTTTTT:TTTTTT,NC_000006.12:106184985:TTTTTTT:TTTTTTTT
Gene:: ATG5 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTT=0./0 (ALFA)
-=0.000045/12 (TOPMED)
-=0.000064/9 (GnomAD)
HGVS:: NC_000006.12:g.106184990_106184992del, NC_000006.12:g.106184992del, NC_000006.12:g.106184992dup, NC_000006.11:g.106632865_106632867del, NC_000006.11:g.106632867del, NC_000006.11:g.106632867dup, NM_004849.4:c.*1552_*1554del, NM_004849.4:c.*1554del, NM_004849.4:c.*1554dup, NM_004849.3:c.*1552_*1554del, NM_004849.3:c.*1554del, NM_004849.3:c.*1554dup, NM_004849.2:c.*1552_*1554del, NM_004849.2:c.*1554del, NM_004849.2:c.*1554dup, NM_001286108.2:c.*1734_*1736del, NM_001286108.2:c.*1736del, NM_001286108.2:c.*1736dup, NM_001286108.1:c.*1734_*1736del, NM_001286108.1:c.*1736del, NM_001286108.1:c.*1736dup, NM_001286106.2:c.*1552_*1554del, NM_001286106.2:c.*1554del, NM_001286106.2:c.*1554dup, NM_001286106.1:c.*1552_*1554del, NM_001286106.1:c.*1554del, NM_001286106.1:c.*1554dup, NM_001286107.2:c.*1552_*1554del, NM_001286107.2:c.*1554del, NM_001286107.2:c.*1554dup, NM_001286107.1:c.*1552_*1554del, NM_001286107.1:c.*1554del, NM_001286107.1:c.*1554dup, XM_024446590.2:c.*1552_*1554del, XM_024446590.2:c.*1554del, XM_024446590.2:c.*1554dup, NM_001286111.2:c.*1734_*1736del, NM_001286111.2:c.*1736del, NM_001286111.2:c.*1736dup, NM_001286111.1:c.*1734_*1736del, NM_001286111.1:c.*1736del, NM_001286111.1:c.*1736dup, XM_047419574.1:c.*1552_*1554del, XM_047419574.1:c.*1554del, XM_047419574.1:c.*1554dup, NR_104402.1:n.2343_2345del, NR_104402.1:n.2345del, NR_104402.1:n.2345dup, NR_104403.1:n.2215_2217del, NR_104403.1:n.2217del, NR_104403.1:n.2217dup

Select item 147255124213.

rs1472551242 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:106316240 (GRCh38)
6:106764115 (GRCh37)
Canonical SPDI:: NC_000006.12:106316239:T:C
Gene:: ATG5 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
HGVS:: NC_000006.12:g.106316240T>C, NC_000006.11:g.106764115T>C, NM_004849.4:c.-32A>G, NM_004849.3:c.-32A>G, NM_004849.2:c.-32A>G, NM_001286108.2:c.-32A>G, NM_001286108.1:c.-32A>G, NM_001286106.2:c.-32A>G, NM_001286106.1:c.-32A>G, NM_001286107.2:c.-138A>G, NM_001286107.1:c.-138A>G, XM_024446590.2:c.-138A>G, XM_024446590.1:c.-138A>G, NM_001286111.2:c.-32A>G, NM_001286111.1:c.-32A>G, NR_104402.1:n.27A>G, NR_104403.1:n.27A>G, XM_047419573.1:c.-32A>G

Select item 147243606214.

rs1472436062 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:106185901 (GRCh38)
6:106633776 (GRCh37)
Canonical SPDI:: NC_000006.12:106185900:T:C
Gene:: ATG5 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_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_000006.12:g.106185901T>C, NC_000006.11:g.106633776T>C, NM_004849.4:c.*639A>G, NM_004849.3:c.*639A>G, NM_004849.2:c.*639A>G, NM_001286108.2:c.*821A>G, NM_001286108.1:c.*821A>G, NM_001286106.2:c.*639A>G, NM_001286106.1:c.*639A>G, NM_001286107.2:c.*639A>G, NM_001286107.1:c.*639A>G, XM_024446590.2:c.*639A>G, XM_024446590.1:c.*639A>G, NM_001286111.2:c.*821A>G, NM_001286111.1:c.*821A>G, XM_047419574.1:c.*639A>G, NR_104402.1:n.1430A>G, NR_104403.1:n.1302A>G

Select item 147221778815.

rs1472217788 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 6:106184698 (GRCh38)
6:106632573 (GRCh37)
Canonical SPDI:: NC_000006.12:106184697:A:G,NC_000006.12:106184697:A:T
Gene:: ATG5 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
G=0.000019/5 (TOPMED)
HGVS:: NC_000006.12:g.106184698A>G, NC_000006.12:g.106184698A>T, NC_000006.11:g.106632573A>G, NC_000006.11:g.106632573A>T, NM_004849.4:c.*1842T>C, NM_004849.4:c.*1842T>A, NM_004849.3:c.*1842T>C, NM_004849.3:c.*1842T>A, NM_004849.2:c.*1842T>C, NM_004849.2:c.*1842T>A, NM_001286108.2:c.*2024T>C, NM_001286108.2:c.*2024T>A, NM_001286108.1:c.*2024T>C, NM_001286108.1:c.*2024T>A, NM_001286106.2:c.*1842T>C, NM_001286106.2:c.*1842T>A, NM_001286106.1:c.*1842T>C, NM_001286106.1:c.*1842T>A, NM_001286107.2:c.*1842T>C, NM_001286107.2:c.*1842T>A, NM_001286107.1:c.*1842T>C, NM_001286107.1:c.*1842T>A, XM_024446590.2:c.*1842T>C, XM_024446590.2:c.*1842T>A, NM_001286111.2:c.*2024T>C, NM_001286111.2:c.*2024T>A, NM_001286111.1:c.*2024T>C, NM_001286111.1:c.*2024T>A, XM_047419574.1:c.*1842T>C, XM_047419574.1:c.*1842T>A, NR_104402.1:n.2633T>C, NR_104402.1:n.2633T>A, NR_104403.1:n.2505T>C, NR_104403.1:n.2505T>A

Select item 147158699016.

rs1471586990 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:106316198 (GRCh38)
6:106764073 (GRCh37)
Canonical SPDI:: NC_000006.12:106316197:T:A
Gene:: ATG5 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.106316198T>A, NC_000006.11:g.106764073T>A, NM_004849.4:c.11A>T, NM_004849.3:c.11A>T, NM_004849.2:c.11A>T, NM_001286108.2:c.11A>T, NM_001286108.1:c.11A>T, NM_001286106.2:c.11A>T, NM_001286106.1:c.11A>T, NM_001286107.2:c.-96A>T, NM_001286107.1:c.-96A>T, XM_024446590.2:c.-96A>T, XM_024446590.1:c.-96A>T, NM_001286111.2:c.11A>T, NM_001286111.1:c.11A>T, NR_104402.1:n.69A>T, NR_104403.1:n.69A>T, XM_047419573.1:c.11A>T, NP_004840.1:p.Asp4Val, NP_001273037.1:p.Asp4Val, NP_001273035.1:p.Asp4Val, NP_001273040.1:p.Asp4Val, XP_047275529.1:p.Asp4Val

Select item 146795808717.

rs1467958087 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:106184578 (GRCh38)
6:106632453 (GRCh37)
Canonical SPDI:: NC_000006.12:106184577:C:G
Gene:: ATG5 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000006.12:g.106184578C>G, NC_000006.11:g.106632453C>G, NM_004849.4:c.*1962G>C, NM_004849.3:c.*1962G>C, NM_004849.2:c.*1962G>C, NM_001286108.2:c.*2144G>C, NM_001286108.1:c.*2144G>C, NM_001286106.2:c.*1962G>C, NM_001286106.1:c.*1962G>C, NM_001286107.2:c.*1962G>C, NM_001286107.1:c.*1962G>C, XM_024446590.2:c.*1962G>C, NM_001286111.2:c.*2144G>C, NM_001286111.1:c.*2144G>C, XM_047419574.1:c.*1962G>C, NR_104402.1:n.2753G>C, NR_104403.1:n.2625G>C

Select item 146364366018.

rs1463643660 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:106186452 (GRCh38)
6:106634327 (GRCh37)
Canonical SPDI:: NC_000006.12:106186451:C:T
Gene:: ATG5 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.106186452C>T, NC_000006.11:g.106634327C>T, NM_004849.4:c.*88G>A, NM_004849.3:c.*88G>A, NM_004849.2:c.*88G>A, NM_001286108.2:c.*270G>A, NM_001286108.1:c.*270G>A, NM_001286106.2:c.*88G>A, NM_001286106.1:c.*88G>A, NM_001286107.2:c.*88G>A, NM_001286107.1:c.*88G>A, XM_024446590.2:c.*88G>A, XM_024446590.1:c.*88G>A, NM_001286111.2:c.*270G>A, NM_001286111.1:c.*270G>A, XM_047419574.1:c.*88G>A, NR_104402.1:n.879G>A, NR_104403.1:n.751G>A

Select item 146349578519.

rs1463495785 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:106185700 (GRCh38)
6:106633575 (GRCh37)
Canonical SPDI:: NC_000006.12:106185699:A:G
Gene:: ATG5 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_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_000006.12:g.106185700A>G, NC_000006.11:g.106633575A>G, NM_004849.4:c.*840T>C, NM_004849.3:c.*840T>C, NM_004849.2:c.*840T>C, NM_001286108.2:c.*1022T>C, NM_001286108.1:c.*1022T>C, NM_001286106.2:c.*840T>C, NM_001286106.1:c.*840T>C, NM_001286107.2:c.*840T>C, NM_001286107.1:c.*840T>C, XM_024446590.2:c.*840T>C, NM_001286111.2:c.*1022T>C, NM_001286111.1:c.*1022T>C, XM_047419574.1:c.*840T>C, NR_104402.1:n.1631T>C, NR_104403.1:n.1503T>C

Select item 146156575420.

rs1461565754 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:106184946 (GRCh38)
6:106632821 (GRCh37)
Canonical SPDI:: NC_000006.12:106184945:T:G
Gene:: ATG5 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.106184946T>G, NC_000006.11:g.106632821T>G, NM_004849.4:c.*1594A>C, NM_004849.3:c.*1594A>C, NM_004849.2:c.*1594A>C, NM_001286108.2:c.*1776A>C, NM_001286108.1:c.*1776A>C, NM_001286106.2:c.*1594A>C, NM_001286106.1:c.*1594A>C, NM_001286107.2:c.*1594A>C, NM_001286107.1:c.*1594A>C, XM_024446590.2:c.*1594A>C, NM_001286111.2:c.*1776A>C, NM_001286111.1:c.*1776A>C, XM_047419574.1:c.*1594A>C, NR_104402.1:n.2385A>C, NR_104403.1:n.2257A>C

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