SNP Links for Gene (Select 100302226) - SNP

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Select item 14914808381.

rs1491480838 has merged into rs35373422 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:10551709 (GRCh38)
19:10662385 (GRCh37)
Canonical SPDI:: NC_000019.10:10551697:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:10551697:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:10551697:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:10551697:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:10551697:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:10551697:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:10551697:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:10551697:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:10551697:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:10551697:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:10551697:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:10551697:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:10551697:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:10551697:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:10551697:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:10551697:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ATG4D (Varview), MIR1238 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000019.10:g.10551709_10551719del, NC_000019.10:g.10551710_10551719del, NC_000019.10:g.10551712_10551719del, NC_000019.10:g.10551713_10551719del, NC_000019.10:g.10551714_10551719del, NC_000019.10:g.10551715_10551719del, NC_000019.10:g.10551716_10551719del, NC_000019.10:g.10551717_10551719del, NC_000019.10:g.10551718_10551719del, NC_000019.10:g.10551719del, NC_000019.10:g.10551719dup, NC_000019.10:g.10551718_10551719dup, NC_000019.10:g.10551717_10551719dup, NC_000019.10:g.10551716_10551719dup, NC_000019.10:g.10551715_10551719dup, NC_000019.10:g.10551710_10551719dup, NC_000019.9:g.10662385_10662395del, NC_000019.9:g.10662386_10662395del, NC_000019.9:g.10662388_10662395del, NC_000019.9:g.10662389_10662395del, NC_000019.9:g.10662390_10662395del, NC_000019.9:g.10662391_10662395del, NC_000019.9:g.10662392_10662395del, NC_000019.9:g.10662393_10662395del, NC_000019.9:g.10662394_10662395del, NC_000019.9:g.10662395del, NC_000019.9:g.10662395dup, NC_000019.9:g.10662394_10662395dup, NC_000019.9:g.10662393_10662395dup, NC_000019.9:g.10662392_10662395dup, NC_000019.9:g.10662391_10662395dup, NC_000019.9:g.10662386_10662395dup

Select item 14914119352.

rs1491411935 has merged into rs35373422 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:10551709 (GRCh38)
19:10662385 (GRCh37)
Canonical SPDI:: NC_000019.10:10551697:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:10551697:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:10551697:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:10551697:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:10551697:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:10551697:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:10551697:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:10551697:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:10551697:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:10551697:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:10551697:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:10551697:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:10551697:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:10551697:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:10551697:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:10551697:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ATG4D (Varview), MIR1238 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000019.10:g.10551709_10551719del, NC_000019.10:g.10551710_10551719del, NC_000019.10:g.10551712_10551719del, NC_000019.10:g.10551713_10551719del, NC_000019.10:g.10551714_10551719del, NC_000019.10:g.10551715_10551719del, NC_000019.10:g.10551716_10551719del, NC_000019.10:g.10551717_10551719del, NC_000019.10:g.10551718_10551719del, NC_000019.10:g.10551719del, NC_000019.10:g.10551719dup, NC_000019.10:g.10551718_10551719dup, NC_000019.10:g.10551717_10551719dup, NC_000019.10:g.10551716_10551719dup, NC_000019.10:g.10551715_10551719dup, NC_000019.10:g.10551710_10551719dup, NC_000019.9:g.10662385_10662395del, NC_000019.9:g.10662386_10662395del, NC_000019.9:g.10662388_10662395del, NC_000019.9:g.10662389_10662395del, NC_000019.9:g.10662390_10662395del, NC_000019.9:g.10662391_10662395del, NC_000019.9:g.10662392_10662395del, NC_000019.9:g.10662393_10662395del, NC_000019.9:g.10662394_10662395del, NC_000019.9:g.10662395del, NC_000019.9:g.10662395dup, NC_000019.9:g.10662394_10662395dup, NC_000019.9:g.10662393_10662395dup, NC_000019.9:g.10662392_10662395dup, NC_000019.9:g.10662391_10662395dup, NC_000019.9:g.10662386_10662395dup

Select item 14913526503.

rs1491352650 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:10551697 (GRCh38)
19:10662373 (GRCh37)
Canonical SPDI:: NC_000019.10:10551696:CA:
Gene:: ATG4D (Varview), MIR1238 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000019.10:g.10551697_10551698del, NC_000019.9:g.10662373_10662374del

Select item 14909547964.

rs1490954796 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:10550826 (GRCh38)
19:10661502 (GRCh37)
Canonical SPDI:: NC_000019.10:10550825:C:T
Gene:: ATG4D (Varview), MIR1238 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.10550826C>T, NC_000019.9:g.10661502C>T

Select item 14894716555.

rs1489471655 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:10552302 (GRCh38)
19:10662978 (GRCh37)
Canonical SPDI:: NC_000019.10:10552301:C:T
Gene:: ATG4D (Varview), MIR1238 (Varview)
Functional Consequence:: non_coding_transcript_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.10552302C>T, NC_000019.9:g.10662978C>T, NM_032885.6:c.1220C>T, NM_032885.5:c.1220C>T, NM_001281504.2:c.1031C>T, NM_001281504.1:c.1031C>T, NR_104024.2:n.1363C>T, NR_104024.1:n.1373C>T, NR_104025.2:n.1130C>T, NR_104025.1:n.1140C>T, XM_006722927.2:c.878C>T, XM_006722927.1:c.878C>T, NP_116274.3:p.Thr407Ile, NP_001268433.1:p.Thr344Ile, XP_006722990.1:p.Thr293Ile

Select item 14894002886.

rs1489400288 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:10551452 (GRCh38)
19:10662128 (GRCh37)
Canonical SPDI:: NC_000019.10:10551451:T:G
Gene:: ATG4D (Varview), MIR1238 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.10551452T>G, NC_000019.9:g.10662128T>G

Select item 14888431607.

rs1488843160 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:10552341 (GRCh38)
19:10663017 (GRCh37)
Canonical SPDI:: NC_000019.10:10552340:C:G,NC_000019.10:10552340:C:T
Gene:: ATG4D (Varview), MIR1238 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.10552341C>G, NC_000019.10:g.10552341C>T, NC_000019.9:g.10663017C>G, NC_000019.9:g.10663017C>T

Select item 14880950118.

rs1488095011 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:10552151 (GRCh38)
19:10662827 (GRCh37)
Canonical SPDI:: NC_000019.10:10552150:G:A
Gene:: ATG4D (Varview), MIR1238 (Varview)
Functional Consequence:: non_coding_transcript_variant,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_000019.10:g.10552151G>A, NC_000019.9:g.10662827G>A, NR_031603.1:n.30G>A

Select item 14875358719.

rs1487535871 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:10552377 (GRCh38)
19:10663053 (GRCh37)
Canonical SPDI:: NC_000019.10:10552376:G:A,NC_000019.10:10552376:G:T
Gene:: ATG4D (Varview), MIR1238 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000029/4 (GnomAD)
HGVS:: NC_000019.10:g.10552377G>A, NC_000019.10:g.10552377G>T, NC_000019.9:g.10663053G>A, NC_000019.9:g.10663053G>T

Select item 148747402510.

rs1487474025 [Homo sapiens]

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

Select item 148727299111.

rs1487272991 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:10552347 (GRCh38)
19:10663023 (GRCh37)
Canonical SPDI:: NC_000019.10:10552346:T:A
Gene:: ATG4D (Varview), MIR1238 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant
HGVS:: NC_000019.10:g.10552347T>A, NC_000019.9:g.10663023T>A

Select item 148566998012.

rs1485669980 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:10552493 (GRCh38)
19:10663169 (GRCh37)
Canonical SPDI:: NC_000019.10:10552492:A:G
Gene:: ATG4D (Varview), MIR1238 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.10552493A>G, NC_000019.9:g.10663169A>G

Select item 148539846213.

rs1485398462 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:10551688 (GRCh38)
19:10662364 (GRCh37)
Canonical SPDI:: NC_000019.10:10551687:A:T
Gene:: ATG4D (Varview), MIR1238 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.0016/19 (ALFA)
HGVS:: NC_000019.10:g.10551688A>T, NC_000019.9:g.10662364A>T

Select item 148376445714.

rs1483764457 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:10552508 (GRCh38)
19:10663184 (GRCh37)
Canonical SPDI:: NC_000019.10:10552507:G:A
Gene:: ATG4D (Varview), MIR1238 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000019.10:g.10552508G>A, NC_000019.9:g.10663184G>A

Select item 148294880515.

rs1482948805 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:10550780 (GRCh38)
19:10661456 (GRCh37)
Canonical SPDI:: NC_000019.10:10550779:C:T
Gene:: ATG4D (Varview), MIR1238 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.10550780C>T, NC_000019.9:g.10661456C>T

Select item 148169857816.

rs1481698578 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:10550700 (GRCh38)
19:10661376 (GRCh37)
Canonical SPDI:: NC_000019.10:10550699:G:A
Gene:: ATG4D (Varview), MIR1238 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.10550700G>A, NC_000019.9:g.10661376G>A

Select item 147753349917.

rs1477533499 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:10552082 (GRCh38)
19:10662758 (GRCh37)
Canonical SPDI:: NC_000019.10:10552081:G:A
Gene:: ATG4D (Varview), MIR1238 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant
HGVS:: NC_000019.10:g.10552082G>A, NC_000019.9:g.10662758G>A, NM_032885.6:c.1083G>A, NM_032885.5:c.1083G>A, NM_001281504.2:c.894G>A, NM_001281504.1:c.894G>A, NR_104024.2:n.1226G>A, NR_104024.1:n.1236G>A, NR_104025.2:n.993G>A, NR_104025.1:n.1003G>A, XM_006722927.2:c.741G>A, XM_006722927.1:c.741G>A

Select item 147653295718.

rs1476532957 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:10550646 (GRCh38)
19:10661322 (GRCh37)
Canonical SPDI:: NC_000019.10:10550645:C:T
Gene:: ATG4D (Varview), MIR1238 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,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_000019.10:g.10550646C>T, NC_000019.9:g.10661322C>T

Select item 147643870819.

rs1476438708 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:10551035 (GRCh38)
19:10661711 (GRCh37)
Canonical SPDI:: NC_000019.10:10551034:G:A
Gene:: ATG4D (Varview), MIR1238 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.10551035G>A, NC_000019.9:g.10661711G>A, NG_044716.1:g.158C>T

Select item 147588289720.

rs1475882897 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAG [Show Flanks]
Chromosome:: 19:10551367 (GRCh38)
19:10662044 (GRCh37)
Canonical SPDI:: NC_000019.10:10551367:AGGAG:AGGAGGAG
Gene:: ATG4D (Varview), MIR1238 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGGAGGAG=0./0 (ALFA)
AGG=0.000004/1 (TOPMED)
AGG=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.10551370_10551372dup, NC_000019.9:g.10662046_10662048dup

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