SNP Links for Gene (Select 79065) - SNP

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Select item 14914363761.

rs1491436376 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 2:219224868 (GRCh38)
2:220089590 (GRCh37)
Canonical SPDI:: NC_000002.12:219224866:GTG:G
Gene:: ATG9A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
-=0.00003/2 (GnomAD_exomes)
-=0.00006/2 (ExAC)
HGVS:: NC_000002.12:g.219224868_219224869del, NC_000002.11:g.220089590_220089591del

Select item 14908176212.

rs1490817621 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:219221048 (GRCh38)
2:220085770 (GRCh37)
Canonical SPDI:: NC_000002.12:219221047:C:T
Gene:: ATG9A (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_000002.12:g.219221048C>T, NC_000002.11:g.220085770C>T, NG_032110.1:g.2943G>A

Select item 14907017533.

rs1490701753 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:219225597 (GRCh38)
2:220090319 (GRCh37)
Canonical SPDI:: NC_000002.12:219225596:C:A
Gene:: ATG9A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.219225597C>A, NC_000002.11:g.220090319C>A

Select item 14906854534.

rs1490685453 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:219230392 (GRCh38)
2:220095114 (GRCh37)
Canonical SPDI:: NC_000002.12:219230391:T:A
Gene:: ANKZF1 (Varview), ATG9A (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.219230392T>A, NC_000002.11:g.220095114T>A, XM_011511392.4:c.135T>A, XM_011511392.3:c.135T>A, XM_011511392.2:c.135T>A, XM_011511392.1:c.135T>A, NM_018089.3:c.135T>A, NM_018089.2:c.135T>A, XM_017004421.3:c.135T>A, XM_017004421.2:c.135T>A, XM_017004421.1:c.135T>A, NM_001042410.2:c.135T>A, NM_001042410.1:c.135T>A, XM_047444864.1:c.135T>A, XM_047444865.1:c.135T>A, XM_047444866.1:c.135T>A

Select item 14904278745.

rs1490427874 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:219228502 (GRCh38)
2:220093224 (GRCh37)
Canonical SPDI:: NC_000002.12:219228501:C:T
Gene:: ANKZF1 (Varview), ATG9A (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.219228502C>T, NC_000002.11:g.220093224C>T

Select item 14903326916.

rs1490332691 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:219231588 (GRCh38)
2:220096310 (GRCh37)
Canonical SPDI:: NC_000002.12:219231587:G:C
Gene:: ANKZF1 (Varview), ATG9A (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.219231588G>C, NC_000002.11:g.220096310G>C

Select item 14902761867.

rs1490276186 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:219229416 (GRCh38)
2:220094138 (GRCh37)
Canonical SPDI:: NC_000002.12:219229415:C:T
Gene:: ANKZF1 (Varview), ATG9A (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.219229416C>T, NC_000002.11:g.220094138C>T

Select item 14897781668.

rs1489778166 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:219228471 (GRCh38)
2:220093193 (GRCh37)
Canonical SPDI:: NC_000002.12:219228470:G:A
Gene:: ANKZF1 (Varview), ATG9A (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.219228471G>A, NC_000002.11:g.220093193G>A, NM_001077198.3:c.-67C>T, NM_001077198.2:c.-67C>T, NM_001077198.1:c.-67C>T, NR_104255.2:n.117C>T, NR_104255.1:n.169C>T

Select item 14892946349.

rs1489294634 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 2:219225222 (GRCh38)
2:220089944 (GRCh37)
Canonical SPDI:: NC_000002.12:219225221:AAAAA:AAAA
Gene:: ATG9A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.219225226del, NC_000002.11:g.220089948del

Select item 148920581110.

rs1489205811 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:219231602 (GRCh38)
2:220096324 (GRCh37)
Canonical SPDI:: NC_000002.12:219231601:G:A,NC_000002.12:219231601:G:T
Gene:: ANKZF1 (Varview), ATG9A (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000029/4 (GnomAD)
HGVS:: NC_000002.12:g.219231602G>A, NC_000002.12:g.219231602G>T, NC_000002.11:g.220096324G>A, NC_000002.11:g.220096324G>T

Select item 148881888611.

rs1488818886 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:219220217 (GRCh38)
2:220084939 (GRCh37)
Canonical SPDI:: NC_000002.12:219220216:C:A
Gene:: ABCB6 (Varview), ATG9A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.219220217C>A, NC_000002.11:g.220084939C>A, NG_032110.1:g.3774G>T, NM_024085.5:c.*230G>T, NM_024085.4:c.*230G>T, NM_024085.3:c.*230G>T, NM_001077198.3:c.*230G>T, NM_001077198.2:c.*230G>T, NM_001077198.1:c.*230G>T, NR_104255.2:n.2874G>T, NR_104255.1:n.2926G>T

Select item 148826315912.

rs1488263159 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:219227247 (GRCh38)
2:220091969 (GRCh37)
Canonical SPDI:: NC_000002.12:219227246:G:A
Gene:: ATG9A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.219227247G>A, NC_000002.11:g.220091969G>A

Select item 148805123313.

rs1488051233 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:219228379 (GRCh38)
2:220093101 (GRCh37)
Canonical SPDI:: NC_000002.12:219228378:T:A
Gene:: ANKZF1 (Varview), ATG9A (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.219228379T>A, NC_000002.11:g.220093101T>A

Select item 148798435314.

rs1487984353 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:219229261 (GRCh38)
2:220093983 (GRCh37)
Canonical SPDI:: NC_000002.12:219229260:G:A,NC_000002.12:219229260:G:C
Gene:: ANKZF1 (Varview), ATG9A (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000002.12:g.219229261G>A, NC_000002.12:g.219229261G>C, NC_000002.11:g.220093983G>A, NC_000002.11:g.220093983G>C

Select item 148775816215.

rs1487758162 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:219225734 (GRCh38)
2:220090456 (GRCh37)
Canonical SPDI:: NC_000002.12:219225733:T:A
Gene:: ATG9A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.219225734T>A, NC_000002.11:g.220090456T>A

Select item 148766339916.

rs1487663399 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:219224267 (GRCh38)
2:220088989 (GRCh37)
Canonical SPDI:: NC_000002.12:219224266:G:A
Gene:: ATG9A (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_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_000002.12:g.219224267G>A, NC_000002.11:g.220088989G>A, NM_024085.5:c.1104C>T, NM_024085.4:c.1104C>T, NM_024085.3:c.1104C>T, NM_001077198.3:c.1104C>T, NM_001077198.2:c.1104C>T, NM_001077198.1:c.1104C>T, NR_104255.2:n.1287C>T, NR_104255.1:n.1339C>T

Select item 148700472317.

rs1487004723 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:219228060 (GRCh38)
2:220092782 (GRCh37)
Canonical SPDI:: NC_000002.12:219228059:A:G
Gene:: ANKZF1 (Varview), ATG9A (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000026/7 (TOPMED)
G=0.000029/4 (GnomAD)
G=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.219228060A>G, NC_000002.11:g.220092782A>G

Select item 148697530318.

rs1486975303 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:219225283 (GRCh38)
2:220090005 (GRCh37)
Canonical SPDI:: NC_000002.12:219225282:T:C
Gene:: ATG9A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.219225283T>C, NC_000002.11:g.220090005T>C

Select item 148686276319.

rs1486862763 [Homo sapiens]

Variant type:: DEL
Alleles:: CTA>- [Show Flanks]
Chromosome:: 2:219226299 (GRCh38)
2:220091021 (GRCh37)
Canonical SPDI:: NC_000002.12:219226298:CTA:
Gene:: ATG9A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000002.12:g.219226299_219226301del, NC_000002.11:g.220091021_220091023del

Select item 148653810920.

rs1486538109 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:219226330 (GRCh38)
2:220091052 (GRCh37)
Canonical SPDI:: NC_000002.12:219226329:C:T
Gene:: ATG9A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000071/1 (TOMMO)
HGVS:: NC_000002.12:g.219226330C>T, NC_000002.11:g.220091052C>T

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