SNP Links for Gene (Select 100302276) - SNP

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Items: 1 to 20 of 585

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Select item 14862040751.

rs1486204075 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 1:18898415 (GRCh38)
1:19224910 (GRCh37)
Canonical SPDI:: NC_000001.11:18898415:T:TT
Gene:: ALDH4A1 (Varview), MIR1290 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.18898416dup, NC_000001.10:g.19224910dup, NG_012283.1:g.9384dup

Select item 14842279462.

rs1484227946 [Homo sapiens]

Variant type:: DEL
Alleles:: GCTGAGAT>- [Show Flanks]
Chromosome:: 1:18898268 (GRCh38)
1:19224762 (GRCh37)
Canonical SPDI:: NC_000001.11:18898267:GCTGAGAT:
Gene:: ALDH4A1 (Varview), MIR1290 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.000071/1 (ALFA)
-=0.000049/13 (TOPMED)
HGVS:: NC_000001.11:g.18898268_18898275del, NC_000001.10:g.19224762_19224769del, NG_012283.1:g.9525_9532del

Select item 14825999063.

rs1482599906 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:18897807 (GRCh38)
1:19224301 (GRCh37)
Canonical SPDI:: NC_000001.11:18897806:C:A,NC_000001.11:18897806:C:T
Gene:: ALDH4A1 (Varview), MIR1290 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.18897807C>A, NC_000001.11:g.18897807C>T, NC_000001.10:g.19224301C>A, NC_000001.10:g.19224301C>T, NG_012283.1:g.9993G>T, NG_012283.1:g.9993G>A

Select item 14821617354.

rs1482161735 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:18897967 (GRCh38)
1:19224461 (GRCh37)
Canonical SPDI:: NC_000001.11:18897966:G:A
Gene:: ALDH4A1 (Varview), MIR1290 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.18897967G>A, NC_000001.10:g.19224461G>A, NG_012283.1:g.9833C>T

Select item 14769760065.

rs1476976006 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:18897149 (GRCh38)
1:19223643 (GRCh37)
Canonical SPDI:: NC_000001.11:18897148:A:G
Gene:: ALDH4A1 (Varview), MIR1290 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.18897149A>G, NC_000001.10:g.19223643A>G, NG_012283.1:g.10651T>C

Select item 14762832506.

rs1476283250 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:18897083 (GRCh38)
1:19223577 (GRCh37)
Canonical SPDI:: NC_000001.11:18897082:G:A
Gene:: ALDH4A1 (Varview), MIR1290 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.18897083G>A, NC_000001.10:g.19223577G>A, NG_012283.1:g.10717C>T, NR_031622.1:n.66C>T

Select item 14742444287.

rs1474244428 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:18896618 (GRCh38)
1:19223112 (GRCh37)
Canonical SPDI:: NC_000001.11:18896617:C:A
Gene:: ALDH4A1 (Varview), MIR1290 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.18896618C>A, NC_000001.10:g.19223112C>A, NG_012283.1:g.11182G>T

Select item 14730745978.

rs1473074597 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:18896765 (GRCh38)
1:19223259 (GRCh37)
Canonical SPDI:: NC_000001.11:18896764:T:C
Gene:: ALDH4A1 (Varview), MIR1290 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.18896765T>C, NC_000001.10:g.19223259T>C, NG_012283.1:g.11035A>G

Select item 14729615789.

rs1472961578 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:18897002 (GRCh38)
1:19223496 (GRCh37)
Canonical SPDI:: NC_000001.11:18897001:A:G
Gene:: ALDH4A1 (Varview), MIR1290 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,intron_variant
HGVS:: NC_000001.11:g.18897002A>G, NC_000001.10:g.19223496A>G, NG_012283.1:g.10798T>C

Select item 147214757610.

rs1472147576 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:18897692 (GRCh38)
1:19224186 (GRCh37)
Canonical SPDI:: NC_000001.11:18897691:T:C
Gene:: ALDH4A1 (Varview), MIR1290 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_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_000001.11:g.18897692T>C, NC_000001.10:g.19224186T>C, NG_012283.1:g.10108A>G

Select item 147209203711.

rs1472092037 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:18897623 (GRCh38)
1:19224117 (GRCh37)
Canonical SPDI:: NC_000001.11:18897622:T:C
Gene:: ALDH4A1 (Varview), MIR1290 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.18897623T>C, NC_000001.10:g.19224117T>C, NG_012283.1:g.10177A>G

Select item 147106095812.

rs1471060958 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:18898603 (GRCh38)
1:19225097 (GRCh37)
Canonical SPDI:: NC_000001.11:18898602:T:C
Gene:: ALDH4A1 (Varview), MIR1290 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.18898603T>C, NC_000001.10:g.19225097T>C, NG_012283.1:g.9197A>G

Select item 147061558313.

rs1470615583 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:18898968 (GRCh38)
1:19225462 (GRCh37)
Canonical SPDI:: NC_000001.11:18898967:T:C
Gene:: ALDH4A1 (Varview), MIR1290 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.18898968T>C, NC_000001.10:g.19225462T>C, NG_012283.1:g.8832A>G

Select item 146849460714.

rs1468494607 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:18896727 (GRCh38)
1:19223221 (GRCh37)
Canonical SPDI:: NC_000001.11:18896726:T:C
Gene:: ALDH4A1 (Varview), MIR1290 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.18896727T>C, NC_000001.10:g.19223221T>C, NG_012283.1:g.11073A>G

Select item 146613226715.

rs1466132267 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:18897396 (GRCh38)
1:19223890 (GRCh37)
Canonical SPDI:: NC_000001.11:18897395:A:T
Gene:: ALDH4A1 (Varview), MIR1290 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.18897396A>T, NC_000001.10:g.19223890A>T, NG_012283.1:g.10404T>A

Select item 146418095716.

rs1464180957 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:18899098 (GRCh38)
1:19225592 (GRCh37)
Canonical SPDI:: NC_000001.11:18899097:C:G
Gene:: ALDH4A1 (Varview), MIR1290 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.18899098C>G, NC_000001.10:g.19225592C>G, NG_012283.1:g.8702G>C

Select item 146298506617.

rs1462985066 [Homo sapiens]

Variant type:: DELINS
Alleles:: TAA>- [Show Flanks]
Chromosome:: 1:18898353 (GRCh38)
1:19224847 (GRCh37)
Canonical SPDI:: NC_000001.11:18898347:AATAATAA:AATAA
Gene:: ALDH4A1 (Varview), MIR1290 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AATAA=0./0 (ALFA)
-=0.000029/4 (GnomAD)
-=0.000057/15 (TOPMED)
HGVS:: NC_000001.11:g.18898350TAA[1], NC_000001.10:g.19224844TAA[1], NG_012283.1:g.9447ATT[1]

Select item 146235878618.

rs1462358786 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:18898447 (GRCh38)
1:19224941 (GRCh37)
Canonical SPDI:: NC_000001.11:18898446:C:T
Gene:: ALDH4A1 (Varview), MIR1290 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.18898447C>T, NC_000001.10:g.19224941C>T, NG_012283.1:g.9353G>A

Select item 145957167219.

rs1459571672 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 1:18898845 (GRCh38)
1:19225339 (GRCh37)
Canonical SPDI:: NC_000001.11:18898844:CC:C
Gene:: ALDH4A1 (Varview), MIR1290 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.18898846del, NC_000001.10:g.19225340del, NG_012283.1:g.8955del

Select item 145943541520.

rs1459435415 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:18897948 (GRCh38)
1:19224442 (GRCh37)
Canonical SPDI:: NC_000001.11:18897947:G:A,NC_000001.11:18897947:G:T
Gene:: ALDH4A1 (Varview), MIR1290 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,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)
HGVS:: NC_000001.11:g.18897948G>A, NC_000001.11:g.18897948G>T, NC_000001.10:g.19224442G>A, NC_000001.10:g.19224442G>T, NG_012283.1:g.9852C>T, NG_012283.1:g.9852C>A

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