SNP Links for Gene (Select 9140) - SNP

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Select item 14913608381.

rs1491360838 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 5:115831402 (GRCh38)
5:115167100 (GRCh37)
Canonical SPDI:: NC_000005.10:115831402:T:TT
Gene:: ATG12 (Varview), LOC124901049 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.115831403dup, NC_000005.9:g.115167100dup, NM_004707.4:c.*401dup, NM_004707.3:c.*401dup, NR_073603.2:n.1070dup, NR_073603.1:n.1356dup, NR_033362.2:n.954dup, NR_033362.1:n.1240dup, NR_033363.2:n.953dup, NR_033363.1:n.1239dup, NM_001277783.2:c.*462dup, NM_001277783.1:c.*462dup, NR_073605.1:n.986dup, NR_073604.1:n.863dup

Select item 14910381882.

rs1491038188 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 5:115832571 (GRCh38)
5:115168268 (GRCh37)
Canonical SPDI:: NC_000005.10:115832569:TCT:T
Gene:: ATG12 (Varview), LOC124901049 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000071/10 (GnomAD_exomes)
-=0.000073/1 (TOMMO)
-=0.000238/21 (GnomAD)
HGVS:: NC_000005.10:g.115832571_115832572del, NC_000005.9:g.115168268_115168269del, XR_007058908.1:n.405_406del

Select item 14909963693.

rs1490996369 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:115840712 (GRCh38)
5:115176409 (GRCh37)
Canonical SPDI:: NC_000005.10:115840711:C:A
Gene:: AP3S1 (Varview), ATG12 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000005.10:g.115840712C>A, NC_000005.9:g.115176409C>A

Select item 14908941924.

rs1490894192 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTTT>- [Show Flanks]
Chromosome:: 5:115837715 (GRCh38)
5:115173412 (GRCh37)
Canonical SPDI:: NC_000005.10:115837712:TTCTTT:TT
Gene:: ATG12 (Varview)
Functional Consequence:: frameshift_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.115837715_115837718del, NC_000005.9:g.115173412_115173415del, NM_004707.4:c.212_215del, NM_004707.3:c.212_215del, NR_073603.2:n.458_461del, NR_073603.1:n.744_747del, NR_033362.2:n.342_345del, NR_033362.1:n.628_631del, NR_033363.2:n.341_344del, NR_033363.1:n.627_630del, NP_004698.3:p.Lys71fs

Select item 14908579165.

rs1490857916 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:115840070 (GRCh38)
5:115175767 (GRCh37)
Canonical SPDI:: NC_000005.10:115840069:C:T
Gene:: AP3S1 (Varview), ATG12 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.115840070C>T, NC_000005.9:g.115175767C>T

Select item 14904679496.

rs1490467949 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:115834694 (GRCh38)
5:115170391 (GRCh37)
Canonical SPDI:: NC_000005.10:115834693:A:T
Gene:: ATG12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000072/19 (TOPMED)
T=0.000107/15 (GnomAD)
HGVS:: NC_000005.10:g.115834694A>T, NC_000005.9:g.115170391A>T

Select item 14903881777.

rs1490388177 has merged into rs1157689417 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AAA [Show Flanks]
Chromosome:: 5:115837014 (GRCh38)
5:115172711 (GRCh37)
Canonical SPDI:: NC_000005.10:115837013:AAAA:AAA,NC_000005.10:115837013:AAAA:AAAAAA
Gene:: ATG12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAA=0./0 (ALFA)
AA=0.00006/16 (TOPMED)
HGVS:: NC_000005.10:g.115837017del, NC_000005.10:g.115837016_115837017dup, NC_000005.9:g.115172714del, NC_000005.9:g.115172713_115172714dup

Select item 14903522208.

rs1490352220 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:115835251 (GRCh38)
5:115170948 (GRCh37)
Canonical SPDI:: NC_000005.10:115835250:C:A
Gene:: ATG12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.115835251C>A, NC_000005.9:g.115170948C>A

Select item 14903065099.

rs1490306509 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 5:115835085 (GRCh38)
5:115170782 (GRCh37)
Canonical SPDI:: NC_000005.10:115835084:A:G,NC_000005.10:115835084:A:T
Gene:: ATG12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.115835085A>G, NC_000005.10:g.115835085A>T, NC_000005.9:g.115170782A>G, NC_000005.9:g.115170782A>T

Select item 149004950710.

rs1490049507 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:115828430 (GRCh38)
5:115164127 (GRCh37)
Canonical SPDI:: NC_000005.10:115828429:T:C
Gene:: ATG12 (Varview), LOC124901049 (Varview)
Functional Consequence:: 3_prime_UTR_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_000005.10:g.115828430T>C, NC_000005.9:g.115164127T>C, NM_004707.4:c.*3374A>G, NM_004707.3:c.*3374A>G, NR_073603.2:n.4043A>G, NR_073603.1:n.4329A>G, NR_033362.2:n.3927A>G, NR_033362.1:n.4213A>G, NR_033363.2:n.3926A>G, NR_033363.1:n.4212A>G, NM_001277783.2:c.*3435A>G, NM_001277783.1:c.*3435A>G, NR_073605.1:n.3959A>G, NR_073604.1:n.3836A>G

Select item 149002159911.

rs1490021599 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:115841350 (GRCh38)
5:115177047 (GRCh37)
Canonical SPDI:: NC_000005.10:115841349:T:G
Gene:: AP3S1 (Varview), ATG12 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.115841350T>G, NC_000005.9:g.115177047T>G

Select item 148977584812.

rs1489775848 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:115839641 (GRCh38)
5:115175338 (GRCh37)
Canonical SPDI:: NC_000005.10:115839640:G:A
Gene:: ATG12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000005.10:g.115839641G>A, NC_000005.9:g.115175338G>A

Select item 148923694713.

rs1489236947 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:115827905 (GRCh38)
5:115163602 (GRCh37)
Canonical SPDI:: NC_000005.10:115827904:A:G
Gene:: ATG12 (Varview), LOC124901049 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000021/3 (GnomAD)
G=0.000026/7 (TOPMED)
HGVS:: NC_000005.10:g.115827905A>G, NC_000005.9:g.115163602A>G

Select item 148921689814.

rs1489216898 has merged into rs372324151 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCT>-,CT [Show Flanks]
Chromosome:: 5:115834614 (GRCh38)
5:115170311 (GRCh37)
Canonical SPDI:: NC_000005.10:115834611:CTCTCT:CT,NC_000005.10:115834611:CTCTCT:CTCT
Gene:: ATG12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CT=0./0 (ALFA)
-=0.00004/1 (TOMMO)
-=0.00026/1 (ALSPAC)
-=0.00203/10 (1000Genomes)
HGVS:: NC_000005.10:g.115834612CT[1], NC_000005.10:g.115834612CT[2], NC_000005.9:g.115170309CT[1], NC_000005.9:g.115170309CT[2]

Select item 148918584115.

rs1489185841 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:115835474 (GRCh38)
5:115171171 (GRCh37)
Canonical SPDI:: NC_000005.10:115835473:C:T
Gene:: ATG12 (Varview)
Functional Consequence:: intron_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_000005.10:g.115835474C>T, NC_000005.9:g.115171171C>T

Select item 148916479416.

rs1489164794 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:115842112 (GRCh38)
5:115177809 (GRCh37)
Canonical SPDI:: NC_000005.10:115842111:T:G
Gene:: AP3S1 (Varview), ATG12 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00368/49 (ALFA)
G=0.00205/58 (TOMMO)
G=0.00335/15 (Estonian)
HGVS:: NC_000005.10:g.115842112T>G, NC_000005.9:g.115177809T>G

Select item 148908411117.

rs1489084111 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 5:115841725 (GRCh38)
5:115177422 (GRCh37)
Canonical SPDI:: NC_000005.10:115841724:T:C,NC_000005.10:115841724:T:G
Gene:: AP3S1 (Varview), ATG12 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.115841725T>C, NC_000005.10:g.115841725T>G, NC_000005.9:g.115177422T>C, NC_000005.9:g.115177422T>G, NM_004707.3:c.-173A>G, NM_004707.3:c.-173A>C, NM_001284.3:c.-313T>C, NM_001284.3:c.-313T>G, NM_001002924.2:c.-415T>C, NM_001002924.2:c.-415T>G, NR_073603.1:n.127A>G, NR_073603.1:n.127A>C, NR_033362.1:n.127A>G, NR_033362.1:n.127A>C, NR_033363.1:n.127A>G, NR_033363.1:n.127A>C, NR_073605.1:n.127A>G, NR_073605.1:n.127A>C, NM_001277783.1:c.-173A>G, NM_001277783.1:c.-173A>C, NR_073604.1:n.127A>G, NR_073604.1:n.127A>C, NM_001318093.1:c.-313T>C, NM_001318093.1:c.-313T>G, NM_001318091.1:c.-313T>C, NM_001318091.1:c.-313T>G, NM_001318094.1:c.-313T>C, NM_001318094.1:c.-313T>G, NM_001318090.1:c.-313T>C, NM_001318090.1:c.-313T>G

Select item 148901398518.

rs1489013985 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:115835443 (GRCh38)
5:115171140 (GRCh37)
Canonical SPDI:: NC_000005.10:115835442:C:T
Gene:: ATG12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000005.10:g.115835443C>T, NC_000005.9:g.115171140C>T

Select item 148885963919.

rs1488859639 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:115835836 (GRCh38)
5:115171533 (GRCh37)
Canonical SPDI:: NC_000005.10:115835835:G:A
Gene:: ATG12 (Varview)
Functional Consequence:: intron_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_000005.10:g.115835836G>A, NC_000005.9:g.115171533G>A

Select item 148865419020.

rs1488654190 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 5:115832283 (GRCh38)
5:115167980 (GRCh37)
Canonical SPDI:: NC_000005.10:115832282:T:C,NC_000005.10:115832282:T:G
Gene:: ATG12 (Varview), LOC124901049 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
G=0.000342/1 (KOREAN)
HGVS:: NC_000005.10:g.115832283T>C, NC_000005.10:g.115832283T>G, NC_000005.9:g.115167980T>C, NC_000005.9:g.115167980T>G, XR_007058908.1:n.117T>C, XR_007058908.1:n.117T>G