SNP Links for Protein (Select 116805330) - SNP

Links from Protein

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Select item 14907557601.

rs1490755760 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:154869831 (GRCh38)
1:154842307 (GRCh37)
Canonical SPDI:: NC_000001.11:154869830:G:T
Gene:: KCNN3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000668/6 (ALFA)
T=0.000389/7 (TOMMO)
T=0.00047/86 (GnomAD_exomes)
HGVS:: NC_000001.11:g.154869831G>T, NC_000001.10:g.154842307G>T, NG_016807.2:g.5448C>A, NM_002249.6:c.134C>A, NM_002249.5:c.134C>A, NM_001204087.2:c.134C>A, NM_001204087.1:c.134C>A, NP_002240.3:p.Pro45Gln, NP_001191016.1:p.Pro45Gln

Select item 14894457802.

rs1489445780 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:154772169 (GRCh38)
1:154744645 (GRCh37)
Canonical SPDI:: NC_000001.11:154772168:G:A
Gene:: KCNN3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000047/1 (ALFA)
A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000001.11:g.154772169G>A, NC_000001.10:g.154744645G>A, NG_016807.2:g.103110C>T, NM_002249.6:c.1254C>T, NM_002249.5:c.1254C>T, NM_170782.3:c.339C>T, NM_170782.2:c.339C>T, NM_001204087.2:c.1254C>T, NM_001204087.1:c.1254C>T, NM_001365837.1:c.315C>T, NM_001365838.1:c.315C>T

Select item 14893355783.

rs1489335578 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:154708121 (GRCh38)
1:154680597 (GRCh37)
Canonical SPDI:: NC_000001.11:154708120:T:C
Gene:: KCNN3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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.154708121T>C, NC_000001.10:g.154680597T>C, NG_016807.2:g.167158A>G, NM_002249.6:c.2051A>G, NM_002249.5:c.2051A>G, NM_170782.3:c.1136A>G, NM_170782.2:c.1136A>G, NM_001204087.2:c.2096A>G, NM_001204087.1:c.2096A>G, NM_001365837.1:c.1157A>G, NM_001365838.1:c.1112A>G, NP_002240.3:p.Gln684Arg, NP_740752.1:p.Gln379Arg, NP_001191016.1:p.Gln699Arg, NP_001352766.1:p.Gln386Arg, NP_001352767.1:p.Gln371Arg

Select item 14881740864.

rs1488174086 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:154869473 (GRCh38)
1:154841949 (GRCh37)
Canonical SPDI:: NC_000001.11:154869472:C:T
Gene:: KCNN3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.154869473C>T, NC_000001.10:g.154841949C>T, NG_016807.2:g.5806G>A, NM_002249.6:c.492G>A, NM_002249.5:c.492G>A, NM_001204087.2:c.492G>A, NM_001204087.1:c.492G>A

Select item 14873709915.

rs1487370991 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:154869306 (GRCh38)
1:154841782 (GRCh37)
Canonical SPDI:: NC_000001.11:154869305:A:C
Gene:: KCNN3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.154869306A>C, NC_000001.10:g.154841782A>C, NG_016807.2:g.5973T>G, NM_002249.6:c.659T>G, NM_002249.5:c.659T>G, NM_001204087.2:c.659T>G, NM_001204087.1:c.659T>G, NP_002240.3:p.Val220Gly, NP_001191016.1:p.Val220Gly

Select item 14870860826.

rs1487086082 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:154869881 (GRCh38)
1:154842357 (GRCh37)
Canonical SPDI:: NC_000001.11:154869880:A:T
Gene:: KCNN3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000011/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.154869881A>T, NC_000001.10:g.154842357A>T, NG_016807.2:g.5398T>A, NM_002249.6:c.84T>A, NM_002249.5:c.84T>A, NM_001204087.2:c.84T>A, NM_001204087.1:c.84T>A, NP_002240.3:p.Asp28Glu, NP_001191016.1:p.Asp28Glu

Select item 14855159517.

rs1485515951 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCA>- [Show Flanks]
Chromosome:: 1:154869114 (GRCh38)
1:154841590 (GRCh37)
Canonical SPDI:: NC_000001.11:154869110:TCACTCA:TCA
Gene:: KCNN3 (Varview)
Functional Consequence:: frameshift_variant,genic_upstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.154869114_154869117del, NC_000001.10:g.154841590_154841593del, NG_016807.2:g.6165_6168del, NM_002249.6:c.851_854del, NM_002249.5:c.851_854del, NM_001204087.2:c.851_854del, NM_001204087.1:c.851_854del, NP_002240.3:p.Ser284fs, NP_001191016.1:p.Ser284fs

Select item 14851811528.

rs1485181152 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:154772245 (GRCh38)
1:154744721 (GRCh37)
Canonical SPDI:: NC_000001.11:154772244:G:A
Gene:: KCNN3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.154772245G>A, NC_000001.10:g.154744721G>A, NG_016807.2:g.103034C>T, NM_002249.6:c.1178C>T, NM_002249.5:c.1178C>T, NM_170782.3:c.263C>T, NM_170782.2:c.263C>T, NM_001204087.2:c.1178C>T, NM_001204087.1:c.1178C>T, NM_001365837.1:c.239C>T, NM_001365838.1:c.239C>T, NP_002240.3:p.Ser393Phe, NP_740752.1:p.Ser88Phe, NP_001191016.1:p.Ser393Phe, NP_001352766.1:p.Ser80Phe, NP_001352767.1:p.Ser80Phe

Select item 14844550099.

rs1484455009 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:154772338 (GRCh38)
1:154744814 (GRCh37)
Canonical SPDI:: NC_000001.11:154772337:C:T
Gene:: KCNN3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.154772338C>T, NC_000001.10:g.154744814C>T, NG_016807.2:g.102941G>A, NM_002249.6:c.1085G>A, NM_002249.5:c.1085G>A, NM_170782.3:c.170G>A, NM_170782.2:c.170G>A, NM_001204087.2:c.1085G>A, NM_001204087.1:c.1085G>A, NM_001365837.1:c.146G>A, NM_001365838.1:c.146G>A, NP_002240.3:p.Arg362His, NP_740752.1:p.Arg57His, NP_001191016.1:p.Arg362His, NP_001352766.1:p.Arg49His, NP_001352767.1:p.Arg49His

Select item 148224309010.

rs1482243090 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:154869668 (GRCh38)
1:154842144 (GRCh37)
Canonical SPDI:: NC_000001.11:154869667:G:A
Gene:: KCNN3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.154869668G>A, NC_000001.10:g.154842144G>A, NG_016807.2:g.5611C>T, NM_002249.6:c.297C>T, NM_002249.5:c.297C>T, NM_001204087.2:c.297C>T, NM_001204087.1:c.297C>T

Select item 148119624311.

rs1481196243 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:154869802 (GRCh38)
1:154842278 (GRCh37)
Canonical SPDI:: NC_000001.11:154869801:G:A
Gene:: KCNN3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000514/87 (GnomAD_exomes)
HGVS:: NC_000001.11:g.154869802G>A, NC_000001.10:g.154842278G>A, NG_016807.2:g.5477C>T, NM_002249.6:c.163C>T, NM_002249.5:c.163C>T, NM_001204087.2:c.163C>T, NM_001204087.1:c.163C>T

Select item 148092669412.

rs1480926694 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:154772004 (GRCh38)
1:154744480 (GRCh37)
Canonical SPDI:: NC_000001.11:154772003:A:C
Gene:: KCNN3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.154772004A>C, NC_000001.10:g.154744480A>C, NG_016807.2:g.103275T>G, NM_002249.6:c.1419T>G, NM_002249.5:c.1419T>G, NM_170782.3:c.504T>G, NM_170782.2:c.504T>G, NM_001204087.2:c.1419T>G, NM_001204087.1:c.1419T>G, NM_001365837.1:c.480T>G, NM_001365838.1:c.480T>G, NP_002240.3:p.Ile473Met, NP_740752.1:p.Ile168Met, NP_001191016.1:p.Ile473Met, NP_001352766.1:p.Ile160Met, NP_001352767.1:p.Ile160Met

Select item 147644823913.

rs1476448239 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:154708094 (GRCh38)
1:154680570 (GRCh37)
Canonical SPDI:: NC_000001.11:154708093:A:G
Gene:: KCNN3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.154708094A>G, NC_000001.10:g.154680570A>G, NG_016807.2:g.167185T>C, NM_002249.6:c.2078T>C, NM_002249.5:c.2078T>C, NM_170782.3:c.1163T>C, NM_170782.2:c.1163T>C, NM_001204087.2:c.2123T>C, NM_001204087.1:c.2123T>C, NM_001365837.1:c.1184T>C, NM_001365838.1:c.1139T>C, NP_002240.3:p.Ile693Thr, NP_740752.1:p.Ile388Thr, NP_001191016.1:p.Ile708Thr, NP_001352766.1:p.Ile395Thr, NP_001352767.1:p.Ile380Thr

Select item 147602299114.

rs1476022991 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:154869847 (GRCh38)
1:154842323 (GRCh37)
Canonical SPDI:: NC_000001.11:154869846:G:T
Gene:: KCNN3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000334/67 (GnomAD_exomes)
HGVS:: NC_000001.11:g.154869847G>T, NC_000001.10:g.154842323G>T, NG_016807.2:g.5432C>A, NM_002249.6:c.118C>A, NM_002249.5:c.118C>A, NM_001204087.2:c.118C>A, NM_001204087.1:c.118C>A, NP_002240.3:p.Gln40Lys, NP_001191016.1:p.Gln40Lys

Select item 147425664215.

rs1474256642 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:154772065 (GRCh38)
1:154744541 (GRCh37)
Canonical SPDI:: NC_000001.11:154772064:G:A
Gene:: KCNN3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.154772065G>A, NC_000001.10:g.154744541G>A, NG_016807.2:g.103214C>T, NM_002249.6:c.1358C>T, NM_002249.5:c.1358C>T, NM_170782.3:c.443C>T, NM_170782.2:c.443C>T, NM_001204087.2:c.1358C>T, NM_001204087.1:c.1358C>T, NM_001365837.1:c.419C>T, NM_001365838.1:c.419C>T, NP_002240.3:p.Thr453Met, NP_740752.1:p.Thr148Met, NP_001191016.1:p.Thr453Met, NP_001352766.1:p.Thr140Met, NP_001352767.1:p.Thr140Met

Select item 147423587816.

rs1474235878 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:154708205 (GRCh38)
1:154680681 (GRCh37)
Canonical SPDI:: NC_000001.11:154708204:A:G
Gene:: KCNN3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.154708205A>G, NC_000001.10:g.154680681A>G, NG_016807.2:g.167074T>C, NM_002249.6:c.1967T>C, NM_002249.5:c.1967T>C, NM_170782.3:c.1052T>C, NM_170782.2:c.1052T>C, NM_001204087.2:c.2012T>C, NM_001204087.1:c.2012T>C, NM_001365837.1:c.1073T>C, NM_001365838.1:c.1028T>C, NP_002240.3:p.Ile656Thr, NP_740752.1:p.Ile351Thr, NP_001191016.1:p.Ile671Thr, NP_001352766.1:p.Ile358Thr, NP_001352767.1:p.Ile343Thr

Select item 147319440217.

rs1473194402 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:154822183 (GRCh38)
1:154794659 (GRCh37)
Canonical SPDI:: NC_000001.11:154822182:T:A
Gene:: KCNN3 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.154822183T>A, NC_000001.10:g.154794659T>A, NG_016807.2:g.53096A>T, NM_002249.6:c.935A>T, NM_002249.5:c.935A>T, NM_170782.3:c.20A>T, NM_170782.2:c.20A>T, NM_001204087.2:c.935A>T, NM_001204087.1:c.935A>T, NM_001365837.1:c.-5A>T, NM_001365838.1:c.-5A>T, NP_002240.3:p.Asp312Val, NP_740752.1:p.Asp7Val, NP_001191016.1:p.Asp312Val

Select item 147187023518.

rs1471870235 has merged into rs3831942 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG>-,CTG,CTGCTG,CTGCTGCTG,CTGCTGCTGCTG,CTGCTGCTGCTGCTG,CTGCTGCTGCTGCTGCTG,CTGCTGCTGCTGCTGCTGCTG,CTGCTGCTGCTGCTGCTGCTGCTG,CTGCTGCTGCTGCTGCTGCTGCTGCTG,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG [Show Flanks]
Chromosome:: 1:154869737 (GRCh38)
1:154842213 (GRCh37)
Canonical SPDI:: NC_000001.11:154869723:GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG:GCTGCTGCTGCTG,NC_000001.11:154869723:GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG:GCTGCTGCTGCTGCTG,NC_000001.11:154869723:GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG:GCTGCTGCTGCTGCTGCTG,NC_000001.11:154869723:GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG:GCTGCTGCTGCTGCTGCTGCTG,NC_000001.11:154869723:GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG:GCTGCTGCTGCTGCTGCTGCTGCTG,NC_000001.11:154869723:GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG:GCTGCTGCTGCTGCTGCTGCTGCTGCTG,NC_000001.11:154869723:GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG:GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,NC_000001.11:154869723:GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG:GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,NC_000001.11:154869723:GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG:GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,NC_000001.11:154869723:GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG:GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,NC_000001.11:154869723:GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG:GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,NC_000001.11:154869723:GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG:GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,NC_000001.11:154869723:GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG:GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,NC_000001.11:154869723:GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG:GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,NC_000001.11:154869723:GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG:GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,NC_000001.11:154869723:GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG:GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,NC_000001.11:154869723:GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG:GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,NC_000001.11:154869723:GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG:GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,NC_000001.11:154869723:GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG:GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,NC_000001.11:154869723:GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG:GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,NC_000001.11:154869723:GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG:GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,NC_000001.11:154869723:GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG:GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,NC_000001.11:154869723:GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG:GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,NC_000001.11:154869723:GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG:GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,NC_000001.11:154869723:GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG:GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,NC_000001.11:154869723:GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG:GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,NC_000001.11:154869723:GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG:GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,NC_000001.11:154869723:GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG:GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,NC_000001.11:154869723:GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG:GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG
Gene:: KCNN3 (Varview)
Functional Consequence:: inframe_deletion,genic_upstream_transcript_variant,coding_sequence_variant,inframe_insertion,upstream_transcript_variant
Clinical significance:: conflicting-interpretations-of-pathogenicity,benign,likely-benign,uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: GCTGCTGCTGCTGCTG=0./0 (ALFA)
-=0.5/20 (GENOME_DK)
HGVS:: NC_000001.11:g.154869725CTG[4], NC_000001.11:g.154869725CTG[5], NC_000001.11:g.154869725CTG[6], NC_000001.11:g.154869725CTG[7], NC_000001.11:g.154869725CTG[8], NC_000001.11:g.154869725CTG[9], NC_000001.11:g.154869725CTG[10], NC_000001.11:g.154869725CTG[11], NC_000001.11:g.154869725CTG[12], NC_000001.11:g.154869725CTG[13], NC_000001.11:g.154869725CTG[15], NC_000001.11:g.154869725CTG[16], NC_000001.11:g.154869725CTG[17], NC_000001.11:g.154869725CTG[18], NC_000001.11:g.154869725CTG[19], NC_000001.11:g.154869725CTG[20], NC_000001.11:g.154869725CTG[21], NC_000001.11:g.154869725CTG[22], NC_000001.11:g.154869725CTG[23], NC_000001.11:g.154869725CTG[24], NC_000001.11:g.154869725CTG[25], NC_000001.11:g.154869725CTG[26], NC_000001.11:g.154869725CTG[27], NC_000001.11:g.154869725CTG[28], NC_000001.11:g.154869725CTG[29], NC_000001.11:g.154869725CTG[30], NC_000001.11:g.154869725CTG[31], NC_000001.11:g.154869725CTG[32], NC_000001.11:g.154869725CTG[33], NC_000001.10:g.154842201CTG[4], NC_000001.10:g.154842201CTG[5], NC_000001.10:g.154842201CTG[6], NC_000001.10:g.154842201CTG[7], NC_000001.10:g.154842201CTG[8], NC_000001.10:g.154842201CTG[9], NC_000001.10:g.154842201CTG[10], NC_000001.10:g.154842201CTG[11], NC_000001.10:g.154842201CTG[12], NC_000001.10:g.154842201CTG[13], NC_000001.10:g.154842201CTG[15], NC_000001.10:g.154842201CTG[16], NC_000001.10:g.154842201CTG[17], NC_000001.10:g.154842201CTG[18], NC_000001.10:g.154842201CTG[19], NC_000001.10:g.154842201CTG[20], NC_000001.10:g.154842201CTG[21], NC_000001.10:g.154842201CTG[22], NC_000001.10:g.154842201CTG[23], NC_000001.10:g.154842201CTG[24], NC_000001.10:g.154842201CTG[25], NC_000001.10:g.154842201CTG[26], NC_000001.10:g.154842201CTG[27], NC_000001.10:g.154842201CTG[28], NC_000001.10:g.154842201CTG[29], NC_000001.10:g.154842201CTG[30], NC_000001.10:g.154842201CTG[31], NC_000001.10:g.154842201CTG[32], NC_000001.10:g.154842201CTG[33], NG_016807.2:g.5514AGC[4], NG_016807.2:g.5514AGC[5], NG_016807.2:g.5514AGC[6], NG_016807.2:g.5514AGC[7], NG_016807.2:g.5514AGC[8], NG_016807.2:g.5514AGC[9], NG_016807.2:g.5514AGC[10], NG_016807.2:g.5514AGC[11], NG_016807.2:g.5514AGC[12], NG_016807.2:g.5514AGC[13], NG_016807.2:g.5514AGC[15], NG_016807.2:g.5514AGC[16], NG_016807.2:g.5514AGC[17], NG_016807.2:g.5514AGC[18], NG_016807.2:g.5514AGC[19], NG_016807.2:g.5514AGC[20], NG_016807.2:g.5514AGC[21], NG_016807.2:g.5514AGC[22], NG_016807.2:g.5514AGC[23], NG_016807.2:g.5514AGC[24], NG_016807.2:g.5514AGC[25], NG_016807.2:g.5514AGC[26], NG_016807.2:g.5514AGC[27], NG_016807.2:g.5514AGC[28], NG_016807.2:g.5514AGC[29], NG_016807.2:g.5514AGC[30], NG_016807.2:g.5514AGC[31], NG_016807.2:g.5514AGC[32], NG_016807.2:g.5514AGC[33], NM_002249.6:c.200AGC[4], NM_002249.6:c.200AGC[5], NM_002249.6:c.200AGC[6], NM_002249.6:c.200AGC[7], NM_002249.6:c.200AGC[8], NM_002249.6:c.200AGC[9], NM_002249.6:c.200AGC[10], NM_002249.6:c.200AGC[11], NM_002249.6:c.200AGC[12], NM_002249.6:c.200AGC[13], NM_002249.6:c.200AGC[15], NM_002249.6:c.200AGC[16], NM_002249.6:c.200AGC[17], NM_002249.6:c.200AGC[18], NM_002249.6:c.200AGC[19], NM_002249.6:c.200AGC[20], NM_002249.6:c.200AGC[21], NM_002249.6:c.200AGC[22], NM_002249.6:c.200AGC[23], NM_002249.6:c.200AGC[24], NM_002249.6:c.200AGC[25], NM_002249.6:c.200AGC[26], NM_002249.6:c.200AGC[27], NM_002249.6:c.200AGC[28], NM_002249.6:c.200AGC[29], NM_002249.6:c.200AGC[30], NM_002249.6:c.200AGC[31], NM_002249.6:c.200AGC[32], NM_002249.6:c.200AGC[33], NM_002249.5:c.200AGC[4], NM_002249.5:c.200AGC[5], NM_002249.5:c.200AGC[6], NM_002249.5:c.200AGC[7], NM_002249.5:c.200AGC[8], NM_002249.5:c.200AGC[9], NM_002249.5:c.200AGC[10], NM_002249.5:c.200AGC[11], NM_002249.5:c.200AGC[12], NM_002249.5:c.200AGC[13], NM_002249.5:c.200AGC[15], NM_002249.5:c.200AGC[16], NM_002249.5:c.200AGC[17], NM_002249.5:c.200AGC[18], NM_002249.5:c.200AGC[19], NM_002249.5:c.200AGC[20], NM_002249.5:c.200AGC[21], NM_002249.5:c.200AGC[22], NM_002249.5:c.200AGC[23], NM_002249.5:c.200AGC[24], NM_002249.5:c.200AGC[25], NM_002249.5:c.200AGC[26], NM_002249.5:c.200AGC[27], NM_002249.5:c.200AGC[28], NM_002249.5:c.200AGC[29], NM_002249.5:c.200AGC[30], NM_002249.5:c.200AGC[31], NM_002249.5:c.200AGC[32], NM_002249.5:c.200AGC[33], NM_001204087.2:c.200AGC[4], NM_001204087.2:c.200AGC[5], NM_001204087.2:c.200AGC[6], NM_001204087.2:c.200AGC[7], NM_001204087.2:c.200AGC[8], NM_001204087.2:c.200AGC[9], NM_001204087.2:c.200AGC[10], NM_001204087.2:c.200AGC[11], NM_001204087.2:c.200AGC[12], NM_001204087.2:c.200AGC[13], NM_001204087.2:c.200AGC[15], NM_001204087.2:c.200AGC[16], NM_001204087.2:c.200AGC[17], NM_001204087.2:c.200AGC[18], NM_001204087.2:c.200AGC[19], NM_001204087.2:c.200AGC[20], NM_001204087.2:c.200AGC[21], NM_001204087.2:c.200AGC[22], NM_001204087.2:c.200AGC[23], NM_001204087.2:c.200AGC[24], NM_001204087.2:c.200AGC[25], NM_001204087.2:c.200AGC[26], NM_001204087.2:c.200AGC[27], NM_001204087.2:c.200AGC[28], NM_001204087.2:c.200AGC[29], NM_001204087.2:c.200AGC[30], NM_001204087.2:c.200AGC[31], NM_001204087.2:c.200AGC[32], NM_001204087.2:c.200AGC[33], NM_001204087.1:c.200AGC[4], NM_001204087.1:c.200AGC[5], NM_001204087.1:c.200AGC[6], NM_001204087.1:c.200AGC[7], NM_001204087.1:c.200AGC[8], NM_001204087.1:c.200AGC[9], NM_001204087.1:c.200AGC[10], NM_001204087.1:c.200AGC[11], NM_001204087.1:c.200AGC[12], NM_001204087.1:c.200AGC[13], NM_001204087.1:c.200AGC[15], NM_001204087.1:c.200AGC[16], NM_001204087.1:c.200AGC[17], NM_001204087.1:c.200AGC[18], NM_001204087.1:c.200AGC[19], NM_001204087.1:c.200AGC[20], NM_001204087.1:c.200AGC[21], NM_001204087.1:c.200AGC[22], NM_001204087.1:c.200AGC[23], NM_001204087.1:c.200AGC[24], NM_001204087.1:c.200AGC[25], NM_001204087.1:c.200AGC[26], NM_001204087.1:c.200AGC[27], NM_001204087.1:c.200AGC[28], NM_001204087.1:c.200AGC[29], NM_001204087.1:c.200AGC[30], NM_001204087.1:c.200AGC[31], NM_001204087.1:c.200AGC[32], NM_001204087.1:c.200AGC[33], NP_002240.3:p.Gln71_Gln80del, NP_002240.3:p.Gln72_Gln80del, NP_002240.3:p.Gln73_Gln80del, NP_002240.3:p.Gln74_Gln80del, NP_002240.3:p.Gln75_Gln80del, NP_002240.3:p.Gln76_Gln80del, NP_002240.3:p.Gln77_Gln80del, NP_002240.3:p.Gln78_Gln80del, NP_002240.3:p.Gln79_Gln80del, NP_002240.3:p.Gln80del, NP_002240.3:p.Gln80dup, NP_002240.3:p.Gln79_Gln80dup, NP_002240.3:p.Gln78_Gln80dup, NP_002240.3:p.Gln77_Gln80dup, NP_002240.3:p.Gln76_Gln80dup, NP_002240.3:p.Gln75_Gln80dup, NP_002240.3:p.Gln74_Gln80dup, NP_002240.3:p.Gln73_Gln80dup, NP_002240.3:p.Gln72_Gln80dup, NP_002240.3:p.Gln71_Gln80dup, NP_002240.3:p.Gln70_Gln80dup, NP_002240.3:p.Gln69_Gln80dup, NP_002240.3:p.Gln68_Gln80dup, NP_002240.3:p.Gln67_Gln80dup, NP_002240.3:p.Pro81_Pro82insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln, NP_002240.3:p.Pro81_Pro82insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln, NP_002240.3:p.Pro81_Pro82insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln, NP_002240.3:p.Pro81_Pro82insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln, NP_002240.3:p.Pro81_Pro82insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln, NP_001191016.1:p.Gln71_Gln80del, NP_001191016.1:p.Gln72_Gln80del, NP_001191016.1:p.Gln73_Gln80del, NP_001191016.1:p.Gln74_Gln80del, NP_001191016.1:p.Gln75_Gln80del, NP_001191016.1:p.Gln76_Gln80del, NP_001191016.1:p.Gln77_Gln80del, NP_001191016.1:p.Gln78_Gln80del, NP_001191016.1:p.Gln79_Gln80del, NP_001191016.1:p.Gln80del, NP_001191016.1:p.Gln80dup, NP_001191016.1:p.Gln79_Gln80dup, NP_001191016.1:p.Gln78_Gln80dup, NP_001191016.1:p.Gln77_Gln80dup, NP_001191016.1:p.Gln76_Gln80dup, NP_001191016.1:p.Gln75_Gln80dup, NP_001191016.1:p.Gln74_Gln80dup, NP_001191016.1:p.Gln73_Gln80dup, NP_001191016.1:p.Gln72_Gln80dup, NP_001191016.1:p.Gln71_Gln80dup, NP_001191016.1:p.Gln70_Gln80dup, NP_001191016.1:p.Gln69_Gln80dup, NP_001191016.1:p.Gln68_Gln80dup, NP_001191016.1:p.Gln67_Gln80dup, NP_001191016.1:p.Pro81_Pro82insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln, NP_001191016.1:p.Pro81_Pro82insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln, NP_001191016.1:p.Pro81_Pro82insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln, NP_001191016.1:p.Pro81_Pro82insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln, NP_001191016.1:p.Pro81_Pro82insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln

Select item 147031423719.

rs1470314237 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:154869749 (GRCh38)
1:154842225 (GRCh37)
Canonical SPDI:: NC_000001.11:154869748:C:A,NC_000001.11:154869748:C:T
Gene:: KCNN3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.001277/204 (GnomAD_exomes)
HGVS:: NC_000001.11:g.154869749C>A, NC_000001.11:g.154869749C>T, NC_000001.10:g.154842225C>A, NC_000001.10:g.154842225C>T, NG_016807.2:g.5530G>T, NG_016807.2:g.5530G>A, NM_002249.6:c.216G>T, NM_002249.6:c.216G>A, NM_002249.5:c.216G>T, NM_002249.5:c.216G>A, NM_001204087.2:c.216G>T, NM_001204087.2:c.216G>A, NM_001204087.1:c.216G>T, NM_001204087.1:c.216G>A, NP_002240.3:p.Gln72His, NP_001191016.1:p.Gln72His

Select item 147007776620.

rs1470077766 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:154869419 (GRCh38)
1:154841895 (GRCh37)
Canonical SPDI:: NC_000001.11:154869418:A:G
Gene:: KCNN3 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.154869419A>G, NC_000001.10:g.154841895A>G, NG_016807.2:g.5860T>C, NM_002249.6:c.546T>C, NM_002249.5:c.546T>C, NM_001204087.2:c.546T>C, NM_001204087.1:c.546T>C

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