SNP Links for Gene (Select 152015) - SNP

Links from Gene

Items: 1 to 20 of 3441

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Select item 14908847001.

rs1490884700 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:125971012 (GRCh38)
3:125689855 (GRCh37)
Canonical SPDI:: NC_000003.12:125971011:T:C
Gene:: ROPN1B (Varview), ALG1L (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.125971012T>C, NC_000003.11:g.125689855T>C

Select item 14906574742.

rs1490657474 [Homo sapiens]

Variant type:: SNV:
Alleles:: T>C
Chromosome:: no mapping
Canonical SPDI:

Select item 14904340223.

rs1490434022 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:125972113 (GRCh38)
3:125690956 (GRCh37)
Canonical SPDI:: NC_000003.12:125972112:A:G
Gene:: ROPN1B (Varview), ALG1L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.125972113A>G, NC_000003.11:g.125690956A>G, XM_006713513.4:c.59A>G, XM_006713513.3:c.59A>G, XM_006713513.2:c.59A>G, XM_006713513.1:c.59A>G, NM_001012337.3:c.59A>G, NM_001012337.2:c.59A>G, NM_001012337.1:c.59A>G, NM_001308313.2:c.59A>G, NM_001308313.1:c.59A>G, XP_006713576.1:p.Glu20Gly, NP_001012337.1:p.Glu20Gly, NP_001295242.1:p.Glu20Gly

Select item 14901880724.

rs1490188072 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 3:125978304 (GRCh38)
3:125697148 (GRCh37)
Canonical SPDI:: NC_000003.12:125978304:TTTTTTT:TTTTTTTT
Gene:: ROPN1B (Varview), ALG1L (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.125978311dup, NC_000003.11:g.125697154dup

Select item 14900460825.

rs1490046082 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:125969662 (GRCh38)
3:125688505 (GRCh37)
Canonical SPDI:: NC_000003.12:125969661:G:A
Gene:: ROPN1B (Varview), ALG1L (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.125969662G>A, NC_000003.11:g.125688505G>A

Select item 14898921116.

rs1489892111 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:125983576 (GRCh38)
3:125702419 (GRCh37)
Canonical SPDI:: NC_000003.12:125983575:C:T
Gene:: ROPN1B (Varview), ALG1L (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000003.12:g.125983576C>T, NC_000003.11:g.125702419C>T

Select item 14898807097.

rs1489880709 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:125969106 (GRCh38)
3:125687949 (GRCh37)
Canonical SPDI:: NC_000003.12:125969105:C:A
Gene:: ROPN1B (Varview), ALG1L (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00004/2 (GnomAD)
HGVS:: NC_000003.12:g.125969106C>A, NC_000003.11:g.125687949C>A

Select item 14898410088.

rs1489841008 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:125981098 (GRCh38)
3:125699941 (GRCh37)
Canonical SPDI:: NC_000003.12:125981097:A:C
Gene:: ROPN1B (Varview), ALG1L (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.125981098A>C, NC_000003.11:g.125699941A>C

Select item 14897828089.

rs1489782808 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:125968963 (GRCh38)
3:125687806 (GRCh37)
Canonical SPDI:: NC_000003.12:125968962:C:A
Gene:: ROPN1B (Varview), ALG1L (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000003.12:g.125968963C>A, NC_000003.11:g.125687806C>A

Select item 148968787810.

rs1489687878 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:125978542 (GRCh38)
3:125697385 (GRCh37)
Canonical SPDI:: NC_000003.12:125978541:G:A
Gene:: ROPN1B (Varview), ALG1L (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
HGVS:: NC_000003.12:g.125978542G>A, NC_000003.11:g.125697385G>A

Select item 148959948111.

rs1489599481 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 3:125983875 (GRCh38)
3:125702718 (GRCh37)
Canonical SPDI:: NC_000003.12:125983874:T:
Gene:: ROPN1B (Varview), ALG1L (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.125983875del, NC_000003.11:g.125702718del

Select item 148958993212.

rs1489589932 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 3:125980156 (GRCh38)
3:125698999 (GRCh37)
Canonical SPDI:: NC_000003.12:125980155:A:C,NC_000003.12:125980155:A:T
Gene:: ROPN1B (Varview), ALG1L (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.125980156A>C, NC_000003.12:g.125980156A>T, NC_000003.11:g.125698999A>C, NC_000003.11:g.125698999A>T

Select item 148950295713.

rs1489502957 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:125970033 (GRCh38)
3:125688876 (GRCh37)
Canonical SPDI:: NC_000003.12:125970032:A:G
Gene:: ROPN1B (Varview), ALG1L (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00031/2 (1000Genomes)
HGVS:: NC_000003.12:g.125970033A>G, NC_000003.11:g.125688876A>G

Select item 148938657014.

rs1489386570 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 3:125972941 (GRCh38)
3:125691784 (GRCh37)
Canonical SPDI:: NC_000003.12:125972940:C:A,NC_000003.12:125972940:C:T
Gene:: ROPN1B (Varview), ALG1L (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00173/29 (TOMMO)
HGVS:: NC_000003.12:g.125972941C>A, NC_000003.12:g.125972941C>T, NC_000003.11:g.125691784C>A, NC_000003.11:g.125691784C>T

Select item 148919977915.

rs1489199779 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:125967996 (GRCh38)
3:125686839 (GRCh37)
Canonical SPDI:: NC_000003.12:125967995:T:C
Gene:: ROPN1B (Varview), ALG1L (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.125967996T>C, NC_000003.11:g.125686839T>C

Select item 148916701316.

rs1489167013 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:125968115 (GRCh38)
3:125686958 (GRCh37)
Canonical SPDI:: NC_000003.12:125968114:T:C
Gene:: ROPN1B (Varview), ALG1L (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.0002/1 (ALFA)
HGVS:: NC_000003.12:g.125968115T>C, NC_000003.11:g.125686958T>C

Select item 148886944117.

rs1488869441 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:125969299 (GRCh38)
3:125688142 (GRCh37)
Canonical SPDI:: NC_000003.12:125969298:A:T
Gene:: ROPN1B (Varview), ALG1L (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00003/1 (GnomAD)
HGVS:: NC_000003.12:g.125969299A>T, NC_000003.11:g.125688142A>T, XM_006713513.4:c.-273A>T, XM_006713513.3:c.-273A>T, XM_006713513.2:c.-273A>T, XM_005247138.4:c.-262A>T, XM_005247138.3:c.-262A>T, XM_005247138.2:c.-262A>T, XM_005247138.1:c.-262A>T, NM_001012337.3:c.-114A>T, NM_001012337.2:c.-114A>T, NM_001012337.1:c.-114A>T, NM_001308313.2:c.-160A>T, NM_001308313.1:c.-160A>T

Select item 148875805818.

rs1488758058 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:125971767 (GRCh38)
3:125690610 (GRCh37)
Canonical SPDI:: NC_000003.12:125971766:T:C
Gene:: ROPN1B (Varview), ALG1L (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000003.12:g.125971767T>C, NC_000003.11:g.125690610T>C

Select item 148863999119.

rs1488639991 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:125980681 (GRCh38)
3:125699524 (GRCh37)
Canonical SPDI:: NC_000003.12:125980680:G:A
Gene:: ROPN1B (Varview), ALG1L (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.000106/2 (TOMMO)
HGVS:: NC_000003.12:g.125980681G>A, NC_000003.11:g.125699524G>A

Select item 148846272420.

rs1488462724 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 3:125969796 (GRCh38)
3:125688639 (GRCh37)
Canonical SPDI:: NC_000003.12:125969795:G:
Gene:: ROPN1B (Varview), ALG1L (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.000169/2 (ALFA)
-=0.000399/56 (GnomAD)
HGVS:: NC_000003.12:g.125969796del, NC_000003.11:g.125688639del

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