SNP Links for Gene (Select 131377) - SNP

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Select item 14894915381.

rs1489491538 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:42685229 (GRCh38)
3:42726721 (GRCh37)
Canonical SPDI:: NC_000003.12:42685228:C:T
Gene:: KLHL40 (Varview), LOC124906232 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000003.12:g.42685229C>T, NC_000003.11:g.42726721C>T, NG_033035.1:g.4711C>T

Select item 14889867092.

rs1488986709 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:42691938 (GRCh38)
3:42733430 (GRCh37)
Canonical SPDI:: NC_000003.12:42691937:C:T
Gene:: KLHL40 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.42691938C>T, NC_000003.11:g.42733430C>T, NG_033035.1:g.11420C>T, NM_152393.4:c.1811C>T, NM_152393.3:c.1811C>T, NP_689606.2:p.Ala604Val

Select item 14887698863.

rs1488769886 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAG>- [Show Flanks]
Chromosome:: 3:42686186 (GRCh38)
3:42727678 (GRCh37)
Canonical SPDI:: NC_000003.12:42686183:AGAAG:AG
Gene:: KLHL40 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency
MAF:: -=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.42686186_42686188del, NC_000003.11:g.42727678_42727680del, NG_033035.1:g.5668_5670del, NM_152393.4:c.568_570del, NM_152393.3:c.568_570del, NP_689606.2:p.Lys190del

Select item 14883798564.

rs1488379856 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 3:42691734 (GRCh38)
3:42733226 (GRCh37)
Canonical SPDI:: NC_000003.12:42691733:G:A,NC_000003.12:42691733:G:C,NC_000003.12:42691733:G:T
Gene:: KLHL40 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000003.12:g.42691734G>A, NC_000003.12:g.42691734G>C, NC_000003.12:g.42691734G>T, NC_000003.11:g.42733226G>A, NC_000003.11:g.42733226G>C, NC_000003.11:g.42733226G>T, NG_033035.1:g.11216G>A, NG_033035.1:g.11216G>C, NG_033035.1:g.11216G>T

Select item 14881152925.

rs1488115292 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:42692894 (GRCh38)
3:42734386 (GRCh37)
Canonical SPDI:: NC_000003.12:42692893:A:G
Gene:: HHATL (Varview), KLHL40 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.42692894A>G, NC_000003.11:g.42734386A>G, NG_033035.1:g.12376A>G

Select item 14872210806.

rs1487221080 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:42689330 (GRCh38)
3:42730822 (GRCh37)
Canonical SPDI:: NC_000003.12:42689329:A:G
Gene:: KLHL40 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000003.12:g.42689330A>G, NC_000003.11:g.42730822A>G, NG_033035.1:g.8812A>G

Select item 14866518657.

rs1486651865 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:42691250 (GRCh38)
3:42732742 (GRCh37)
Canonical SPDI:: NC_000003.12:42691249:G:C
Gene:: KLHL40 (Varview)
Functional Consequence:: 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_000003.12:g.42691250G>C, NC_000003.11:g.42732742G>C, NG_033035.1:g.10732G>C

Select item 14865661708.

rs1486566170 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 3:42688646 (GRCh38)
3:42730138 (GRCh37)
Canonical SPDI:: NC_000003.12:42688645:C:A,NC_000003.12:42688645:C:G,NC_000003.12:42688645:C:T
Gene:: KLHL40 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,synonymous_variant
Clinical significance:: likely-pathogenic,likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000012/3 (GnomAD_exomes)
G=0.000021/3 (GnomAD)
HGVS:: NC_000003.12:g.42688646C>A, NC_000003.12:g.42688646C>G, NC_000003.12:g.42688646C>T, NC_000003.11:g.42730138C>A, NC_000003.11:g.42730138C>G, NC_000003.11:g.42730138C>T, NG_033035.1:g.8128C>A, NG_033035.1:g.8128C>G, NG_033035.1:g.8128C>T, NM_152393.4:c.1350C>A, NM_152393.4:c.1350C>G, NM_152393.4:c.1350C>T, NM_152393.3:c.1350C>A, NM_152393.3:c.1350C>G, NM_152393.3:c.1350C>T, NP_689606.2:p.Tyr450Ter, NP_689606.2:p.Tyr450Ter

Select item 14860650799.

rs1486065079 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 3:42691532 (GRCh38)
3:42733024 (GRCh37)
Canonical SPDI:: NC_000003.12:42691531:G:A,NC_000003.12:42691531:G:C,NC_000003.12:42691531:G:T
Gene:: KLHL40 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.42691532G>A, NC_000003.12:g.42691532G>C, NC_000003.12:g.42691532G>T, NC_000003.11:g.42733024G>A, NC_000003.11:g.42733024G>C, NC_000003.11:g.42733024G>T, NG_033035.1:g.11014G>A, NG_033035.1:g.11014G>C, NG_033035.1:g.11014G>T

Select item 148582885510.

rs1485828855 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:42684456 (GRCh38)
3:42725948 (GRCh37)
Canonical SPDI:: NC_000003.12:42684455:G:A
Gene:: KLHL40 (Varview), LOC124906232 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.42684456G>A, NC_000003.11:g.42725948G>A, NG_033035.1:g.3938G>A

Select item 148569562311.

rs1485695623 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:42683831 (GRCh38)
3:42725323 (GRCh37)
Canonical SPDI:: NC_000003.12:42683830:T:C
Gene:: KLHL40 (Varview), LOC124906232 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000003.12:g.42683831T>C, NC_000003.11:g.42725323T>C, NG_033035.1:g.3313T>C

Select item 148531094112.

rs1485310941 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:42691167 (GRCh38)
3:42732659 (GRCh37)
Canonical SPDI:: NC_000003.12:42691166:G:A
Gene:: KLHL40 (Varview)
Functional Consequence:: intron_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_000003.12:g.42691167G>A, NC_000003.11:g.42732659G>A, NG_033035.1:g.10649G>A

Select item 148508642213.

rs1485086422 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:42691900 (GRCh38)
3:42733392 (GRCh37)
Canonical SPDI:: NC_000003.12:42691899:G:A
Gene:: KLHL40 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.42691900G>A, NC_000003.11:g.42733392G>A, NG_033035.1:g.11382G>A, NM_152393.4:c.1773G>A, NM_152393.3:c.1773G>A

Select item 148408929014.

rs1484089290 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:42686071 (GRCh38)
3:42727563 (GRCh37)
Canonical SPDI:: NC_000003.12:42686070:T:C
Gene:: KLHL40 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000003.12:g.42686071T>C, NC_000003.11:g.42727563T>C, NG_033035.1:g.5553T>C, NM_152393.4:c.453T>C, NM_152393.3:c.453T>C

Select item 148390825415.

rs1483908254 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:42683989 (GRCh38)
3:42725481 (GRCh37)
Canonical SPDI:: NC_000003.12:42683988:C:G,NC_000003.12:42683988:C:T
Gene:: KLHL40 (Varview), LOC124906232 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000214/3 (ALFA)
T=0.000083/22 (TOPMED)
T=0.000114/16 (GnomAD)
HGVS:: NC_000003.12:g.42683989C>G, NC_000003.12:g.42683989C>T, NC_000003.11:g.42725481C>G, NC_000003.11:g.42725481C>T, NG_033035.1:g.3471C>G, NG_033035.1:g.3471C>T, NG_074053.1:g.73C>G, NG_074053.1:g.73C>T

Select item 148372651416.

rs1483726514 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>- [Show Flanks]
Chromosome:: 3:42684350 (GRCh38)
3:42725842 (GRCh37)
Canonical SPDI:: NC_000003.12:42684347:GGGG:GG
Gene:: KLHL40 (Varview), LOC124906232 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000009/1 (GnomAD)
HGVS:: NC_000003.12:g.42684350_42684351del, NC_000003.11:g.42725842_42725843del, NG_033035.1:g.3832_3833del, NG_074053.1:g.434_435del

Select item 148363294817.

rs1483632948 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:42691133 (GRCh38)
3:42732625 (GRCh37)
Canonical SPDI:: NC_000003.12:42691132:C:A
Gene:: KLHL40 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000253/3 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000003.12:g.42691133C>A, NC_000003.11:g.42732625C>A, NG_033035.1:g.10615C>A

Select item 148329517218.

rs1483295172 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:42690964 (GRCh38)
3:42732456 (GRCh37)
Canonical SPDI:: NC_000003.12:42690963:G:A
Gene:: KLHL40 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000023/6 (TOPMED)
HGVS:: NC_000003.12:g.42690964G>A, NC_000003.11:g.42732456G>A, NG_033035.1:g.10446G>A, NM_152393.4:c.1713G>A, NM_152393.3:c.1713G>A

Select item 148323652919.

rs1483236529 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:42686416 (GRCh38)
3:42727908 (GRCh37)
Canonical SPDI:: NC_000003.12:42686415:C:A
Gene:: KLHL40 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.42686416C>A, NC_000003.11:g.42727908C>A, NG_033035.1:g.5898C>A, NM_152393.4:c.798C>A, NM_152393.3:c.798C>A

Select item 148310066420.

rs1483100664 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:42686312 (GRCh38)
3:42727804 (GRCh37)
Canonical SPDI:: NC_000003.12:42686311:G:A
Gene:: KLHL40 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.42686312G>A, NC_000003.11:g.42727804G>A, NG_033035.1:g.5794G>A, NM_152393.4:c.694G>A, NM_152393.3:c.694G>A, NP_689606.2:p.Ala232Thr

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