SNP Links for Gene (Select 127707) - SNP

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Items: 1 to 20 of 2143

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Select item 14904358441.

rs1490435844 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:18481782 (GRCh38)
1:18808276 (GRCh37)
Canonical SPDI:: NC_000001.11:18481781:C:A,NC_000001.11:18481781:C:T
Gene:: KLHDC7A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
HGVS:: NC_000001.11:g.18481782C>A, NC_000001.11:g.18481782C>T, NC_000001.10:g.18808276C>A, NC_000001.10:g.18808276C>T, NM_152375.3:c.801C>A, NM_152375.3:c.801C>T, NM_152375.2:c.801C>A, NM_152375.2:c.801C>T

Select item 14901726182.

rs1490172618 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:18480257 (GRCh38)
1:18806751 (GRCh37)
Canonical SPDI:: NC_000001.11:18480256:G:A
Gene:: KLHDC7A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.00003/8 (TOPMED)
HGVS:: NC_000001.11:g.18480257G>A, NC_000001.10:g.18806751G>A

Select item 14899722113.

rs1489972211 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:18481763 (GRCh38)
1:18808257 (GRCh37)
Canonical SPDI:: NC_000001.11:18481762:C:G
Gene:: KLHDC7A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.18481763C>G, NC_000001.10:g.18808257C>G, NM_152375.3:c.782C>G, NM_152375.2:c.782C>G, NP_689588.2:p.Thr261Ser

Select item 14898993264.

rs1489899326 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:18486375 (GRCh38)
1:18812869 (GRCh37)
Canonical SPDI:: NC_000001.11:18486374:C:G
Gene:: KLHDC7A (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000066/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000001.11:g.18486375C>G, NC_000001.10:g.18812869C>G

Select item 14892616575.

rs1489261657 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:18483077 (GRCh38)
1:18809571 (GRCh37)
Canonical SPDI:: NC_000001.11:18483076:C:G
Gene:: KLHDC7A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.18483077C>G, NC_000001.10:g.18809571C>G, NM_152375.3:c.2096C>G, NM_152375.2:c.2096C>G, NP_689588.2:p.Thr699Ser

Select item 14891592296.

rs1489159229 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:18484387 (GRCh38)
1:18810881 (GRCh37)
Canonical SPDI:: NC_000001.11:18484386:C:G
Gene:: KLHDC7A (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.18484387C>G, NC_000001.10:g.18810881C>G, NM_152375.3:c.*1072C>G, NM_152375.2:c.*1072C>G

Select item 14891280947.

rs1489128094 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:18484803 (GRCh38)
1:18811297 (GRCh37)
Canonical SPDI:: NC_000001.11:18484802:G:A
Gene:: KLHDC7A (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.18484803G>A, NC_000001.10:g.18811297G>A, NM_152375.3:c.*1488G>A, NM_152375.2:c.*1488G>A

Select item 14875150698.

rs1487515069 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:18479718 (GRCh38)
1:18806212 (GRCh37)
Canonical SPDI:: NC_000001.11:18479717:C:G
Gene:: KLHDC7A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0.000084/1 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.18479718C>G, NC_000001.10:g.18806212C>G

Select item 14864332899.

rs1486433289 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:18482008 (GRCh38)
1:18808502 (GRCh37)
Canonical SPDI:: NC_000001.11:18482007:G:A
Gene:: KLHDC7A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.18482008G>A, NC_000001.10:g.18808502G>A, NM_152375.3:c.1027G>A, NM_152375.2:c.1027G>A, NP_689588.2:p.Ala343Thr

Select item 148603849810.

rs1486038498 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:18479603 (GRCh38)
1:18806097 (GRCh37)
Canonical SPDI:: NC_000001.11:18479602:T:C
Gene:: KLHDC7A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.18479603T>C, NC_000001.10:g.18806097T>C

Select item 148596491311.

rs1485964913 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:18485150 (GRCh38)
1:18811644 (GRCh37)
Canonical SPDI:: NC_000001.11:18485149:G:A
Gene:: KLHDC7A (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000216/4 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000029/4 (GnomAD)
A=0.000893/4 (Estonian)
HGVS:: NC_000001.11:g.18485150G>A, NC_000001.10:g.18811644G>A, NM_152375.3:c.*1835G>A, NM_152375.2:c.*1835G>A

Select item 148577691112.

rs1485776911 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:18481302 (GRCh38)
1:18807796 (GRCh37)
Canonical SPDI:: NC_000001.11:18481301:C:A,NC_000001.11:18481301:C:T
Gene:: KLHDC7A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000005/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.18481302C>A, NC_000001.11:g.18481302C>T, NC_000001.10:g.18807796C>A, NC_000001.10:g.18807796C>T, NM_152375.3:c.321C>A, NM_152375.3:c.321C>T, NM_152375.2:c.321C>A, NM_152375.2:c.321C>T

Select item 148510117513.

rs1485101175 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:18485308 (GRCh38)
1:18811802 (GRCh37)
Canonical SPDI:: NC_000001.11:18485307:A:C
Gene:: KLHDC7A (Varview)
Functional Consequence:: 3_prime_UTR_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.18485308A>C, NC_000001.10:g.18811802A>C, NM_152375.3:c.*1993A>C, NM_152375.2:c.*1993A>C

Select item 148477387614.

rs1484773876 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:18485806 (GRCh38)
1:18812300 (GRCh37)
Canonical SPDI:: NC_000001.11:18485805:G:T
Gene:: KLHDC7A (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000001.11:g.18485806G>T, NC_000001.10:g.18812300G>T, NM_152375.3:c.*2491G>T, NM_152375.2:c.*2491G>T

Select item 148443484715.

rs1484434847 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:18482924 (GRCh38)
1:18809418 (GRCh37)
Canonical SPDI:: NC_000001.11:18482923:T:C
Gene:: KLHDC7A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.18482924T>C, NC_000001.10:g.18809418T>C, NM_152375.3:c.1943T>C, NM_152375.2:c.1943T>C, NP_689588.2:p.Phe648Ser

Select item 148408113216.

rs1484081132 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 1:18480501 (GRCh38)
1:18806995 (GRCh37)
Canonical SPDI:: NC_000001.11:18480500:T:A,NC_000001.11:18480500:T:C
Gene:: KLHDC7A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.18480501T>A, NC_000001.11:g.18480501T>C, NC_000001.10:g.18806995T>A, NC_000001.10:g.18806995T>C

Select item 148346629317.

rs1483466293 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:18480342 (GRCh38)
1:18806836 (GRCh37)
Canonical SPDI:: NC_000001.11:18480341:G:A
Gene:: KLHDC7A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000001.11:g.18480342G>A, NC_000001.10:g.18806836G>A

Select item 148296241818.

rs1482962418 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:18480514 (GRCh38)
1:18807008 (GRCh37)
Canonical SPDI:: NC_000001.11:18480513:G:T
Gene:: KLHDC7A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.18480514G>T, NC_000001.10:g.18807008G>T

Select item 148224367019.

rs1482243670 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:18481497 (GRCh38)
1:18807991 (GRCh37)
Canonical SPDI:: NC_000001.11:18481496:C:T
Gene:: KLHDC7A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.18481497C>T, NC_000001.10:g.18807991C>T, NM_152375.3:c.516C>T, NM_152375.2:c.516C>T

Select item 148201543920.

rs1482015439 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:18479364 (GRCh38)
1:18805858 (GRCh37)
Canonical SPDI:: NC_000001.11:18479363:G:T
Gene:: KLHDC7A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000001.11:g.18479364G>T, NC_000001.10:g.18805858G>T

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