SNP Links for Gene (Select 105372793) - SNP

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Items: 1 to 20 of 2937

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Select item 14903816861.

rs1490381686 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:34417166 (GRCh38)
21:35789464 (GRCh37)
Canonical SPDI:: NC_000021.9:34417165:G:A
Gene:: SMIM34 (Varview), LOC105372793 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.0004/2 (ALFA)
A=0.0004/2 (Estonian)
HGVS:: NC_000021.9:g.34417166G>A, NC_000021.8:g.35789464G>A, NG_081666.1:g.575G>A

Select item 14898938962.

rs1489893896 [Homo sapiens]

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

Select item 14897711683.

rs1489771168 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:34419527 (GRCh38)
21:35791825 (GRCh37)
Canonical SPDI:: NC_000021.9:34419526:G:A
Gene:: SMIM34 (Varview), LOC105372793 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000047/1 (ALFA)
A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.34419527G>A, NC_000021.8:g.35791825G>A, NM_001367348.2:c.111C>T, NM_001367348.1:c.111C>T, XR_007067788.1:n.223C>T

Select item 14897040314.

rs1489704031 [Homo sapiens]

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

Select item 14895787965.

rs1489578796 [Homo sapiens]

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

Select item 14889995256.

rs1488999525 [Homo sapiens]

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

Select item 14884283737.

rs1488428373 [Homo sapiens]

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

Select item 14877584408.

rs1487758440 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 21:34419462 (GRCh38)
21:35791760 (GRCh37)
Canonical SPDI:: NC_000021.9:34419461:A:T
Gene:: SMIM34 (Varview), LOC105372793 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.34419462A>T, NC_000021.8:g.35791760A>T, XR_001755015.2:n.707A>T, XR_001755015.1:n.707A>T, NM_001367348.2:c.176T>A, NM_001367348.1:c.176T>A, XR_007067788.1:n.288T>A, NP_001354277.1:p.Ile59Asn

Select item 14877452669.

rs1487745266 [Homo sapiens]

Variant type:: SNV:
Alleles:: GAAAAA>-
Chromosome:: no mapping
Canonical SPDI:

Select item 148713594710.

rs1487135947 [Homo sapiens]

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

Select item 148652574511.

rs1486525745 [Homo sapiens]

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

Select item 148641513412.

rs1486415134 [Homo sapiens]

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

Select item 148615422113.

rs1486154221 [Homo sapiens]

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

Select item 148525077914.

rs1485250779 [Homo sapiens]

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

Select item 148502395515.

rs1485023955 [Homo sapiens]

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

Select item 148490167016.

rs1484901670 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:34407001 (GRCh38)
21:35779299 (GRCh37)
Canonical SPDI:: NC_000021.9:34407000:C:T
Gene:: LOC105372793 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000021.9:g.34407001C>T, NC_000021.8:g.35779299C>T

Select item 148475434817.

rs1484754348 has merged into rs35442536 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACA>-,CACA,CACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACACA [Show Flanks]
Chromosome:: 21:34414255 (GRCh38)
21:35786553 (GRCh37)
Canonical SPDI:: NC_000021.9:34414224:CACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACA,NC_000021.9:34414224:CACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACA,NC_000021.9:34414224:CACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACA,NC_000021.9:34414224:CACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACA,NC_000021.9:34414224:CACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACA,NC_000021.9:34414224:CACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACA,NC_000021.9:34414224:CACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACA
Gene:: SMIM34 (Varview), LOC105372793 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACACACACACACACACACACACACA=0.0137/61 (ALFA)
HGVS:: NC_000021.9:g.34414225CA[15], NC_000021.9:g.34414225CA[17], NC_000021.9:g.34414225CA[18], NC_000021.9:g.34414225CA[20], NC_000021.9:g.34414225CA[21], NC_000021.9:g.34414225CA[22], NC_000021.9:g.34414225CA[24], NC_000021.8:g.35786523CA[15], NC_000021.8:g.35786523CA[17], NC_000021.8:g.35786523CA[18], NC_000021.8:g.35786523CA[20], NC_000021.8:g.35786523CA[21], NC_000021.8:g.35786523CA[22], NC_000021.8:g.35786523CA[24]

Select item 148461917318.

rs1484619173 [Homo sapiens]

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

Select item 148399600019.

rs1483996000 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 21:34419348 (GRCh38)
21:35791646 (GRCh37)
Canonical SPDI:: NC_000021.9:34419347:A:
Gene:: SMIM34 (Varview), LOC105372793 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,non_coding_transcript_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.34419348del, NC_000021.8:g.35791646del, NM_001367348.2:c.290del, NM_001367348.1:c.290del, XR_007067788.1:n.402del, NP_001354277.1:p.Leu97fs

Select item 148392296120.

rs1483922961 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:34406153 (GRCh38)
21:35778451 (GRCh37)
Canonical SPDI:: NC_000021.9:34406152:A:G
Gene:: LOC105372793 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.00034/4 (ALFA)
G=0.01027/30 (KOREAN)
HGVS:: NC_000021.9:g.34406153A>G, NC_000021.8:g.35778451A>G, XR_001755014.2:n.23A>G, XR_001755014.1:n.23A>G, XR_001755015.2:n.23A>G, XR_001755015.1:n.23A>G, XR_007067850.1:n.23A>G

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