SNP Links for Protein (Select 40217825) - SNP

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Links from Protein

Items: 1 to 20 of 869

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Select item 14901218351.

rs1490121835 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:85794466 (GRCh38)
13:86368601 (GRCh37)
Canonical SPDI:: NC_000013.11:85794465:G:A
Gene:: SLITRK6 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.85794466G>A, NC_000013.10:g.86368601G>A, NG_041801.2:g.17218C>T, NM_032229.3:c.2043C>T, NM_032229.2:c.2043C>T

Select item 14896778972.

rs1489677897 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:85795048 (GRCh38)
13:86369183 (GRCh37)
Canonical SPDI:: NC_000013.11:85795047:T:C
Gene:: SLITRK6 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.85795048T>C, NC_000013.10:g.86369183T>C, NG_041801.2:g.16636A>G, NM_032229.3:c.1461A>G, NM_032229.2:c.1461A>G

Select item 14892130603.

rs1489213060 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:85796219 (GRCh38)
13:86370354 (GRCh37)
Canonical SPDI:: NC_000013.11:85796218:A:G
Gene:: SLITRK6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.85796219A>G, NC_000013.10:g.86370354A>G, NG_041801.2:g.15465T>C, NM_032229.3:c.290T>C, NM_032229.2:c.290T>C, NP_115605.2:p.Phe97Ser

Select item 14891106634.

rs1489110663 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 13:85795510 (GRCh38)
13:86369645 (GRCh37)
Canonical SPDI:: NC_000013.11:85795509:A:C,NC_000013.11:85795509:A:G
Gene:: SLITRK6 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
HGVS:: NC_000013.11:g.85795510A>C, NC_000013.11:g.85795510A>G, NC_000013.10:g.86369645A>C, NC_000013.10:g.86369645A>G, NG_041801.2:g.16174T>G, NG_041801.2:g.16174T>C, NM_032229.3:c.999T>G, NM_032229.3:c.999T>C, NM_032229.2:c.999T>G, NM_032229.2:c.999T>C, NP_115605.2:p.Cys333Trp

Select item 14889456015.

rs1488945601 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 13:85796173 (GRCh38)
13:86370308 (GRCh37)
Canonical SPDI:: NC_000013.11:85796172:G:A,NC_000013.11:85796172:G:C,NC_000013.11:85796172:G:T
Gene:: SLITRK6 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
C=0.000106/2 (TOMMO)
HGVS:: NC_000013.11:g.85796173G>A, NC_000013.11:g.85796173G>C, NC_000013.11:g.85796173G>T, NC_000013.10:g.86370308G>A, NC_000013.10:g.86370308G>C, NC_000013.10:g.86370308G>T, NG_041801.2:g.15511C>T, NG_041801.2:g.15511C>G, NG_041801.2:g.15511C>A, NM_032229.3:c.336C>T, NM_032229.3:c.336C>G, NM_032229.3:c.336C>A, NM_032229.2:c.336C>T, NM_032229.2:c.336C>G, NM_032229.2:c.336C>A

Select item 14881556646.

rs1488155664 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 13:85795902 (GRCh38)
13:86370037 (GRCh37)
Canonical SPDI:: NC_000013.11:85795901:A:C,NC_000013.11:85795901:A:G
Gene:: SLITRK6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
G=0.000106/2 (TOMMO)
HGVS:: NC_000013.11:g.85795902A>C, NC_000013.11:g.85795902A>G, NC_000013.10:g.86370037A>C, NC_000013.10:g.86370037A>G, NG_041801.2:g.15782T>G, NG_041801.2:g.15782T>C, NM_032229.3:c.607T>G, NM_032229.3:c.607T>C, NM_032229.2:c.607T>G, NM_032229.2:c.607T>C, NP_115605.2:p.Phe203Val, NP_115605.2:p.Phe203Leu

Select item 14875155697.

rs1487515569 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 13:85794213 (GRCh38)
13:86368348 (GRCh37)
Canonical SPDI:: NC_000013.11:85794212:G:T
Gene:: SLITRK6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.85794213G>T, NC_000013.10:g.86368348G>T, NG_041801.2:g.17471C>A, NM_032229.3:c.2296C>A, NM_032229.2:c.2296C>A, NP_115605.2:p.Leu766Ile

Select item 14874654588.

rs1487465458 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 13:85794897 (GRCh38)
13:86369032 (GRCh37)
Canonical SPDI:: NC_000013.11:85794896:T:A
Gene:: SLITRK6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.85794897T>A, NC_000013.10:g.86369032T>A, NG_041801.2:g.16787A>T, NM_032229.3:c.1612A>T, NM_032229.2:c.1612A>T, NP_115605.2:p.Asn538Tyr

Select item 14871133159.

rs1487113315 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 13:85794131 (GRCh38)
13:86368266 (GRCh37)
Canonical SPDI:: NC_000013.11:85794130:G:A,NC_000013.11:85794130:G:T
Gene:: SLITRK6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000342/1 (KOREAN)
HGVS:: NC_000013.11:g.85794131G>A, NC_000013.11:g.85794131G>T, NC_000013.10:g.86368266G>A, NC_000013.10:g.86368266G>T, NG_041801.2:g.17553C>T, NG_041801.2:g.17553C>A, NM_032229.3:c.2378C>T, NM_032229.3:c.2378C>A, NM_032229.2:c.2378C>T, NM_032229.2:c.2378C>A, NP_115605.2:p.Ala793Val, NP_115605.2:p.Ala793Asp

Select item 148706194510.

rs1487061945 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:85794834 (GRCh38)
13:86368969 (GRCh37)
Canonical SPDI:: NC_000013.11:85794833:C:T
Gene:: SLITRK6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000035/1 (TOMMO)
HGVS:: NC_000013.11:g.85794834C>T, NC_000013.10:g.86368969C>T, NG_041801.2:g.16850G>A, NM_032229.3:c.1675G>A, NM_032229.2:c.1675G>A, NP_115605.2:p.Ala559Thr

Select item 148483905311.

rs1484839053 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:85795518 (GRCh38)
13:86369653 (GRCh37)
Canonical SPDI:: NC_000013.11:85795517:T:C
Gene:: SLITRK6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000013.11:g.85795518T>C, NC_000013.10:g.86369653T>C, NG_041801.2:g.16166A>G, NM_032229.3:c.991A>G, NM_032229.2:c.991A>G, NP_115605.2:p.Ile331Val

Select item 148357820812.

rs1483578208 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:85795597 (GRCh38)
13:86369732 (GRCh37)
Canonical SPDI:: NC_000013.11:85795596:T:C
Gene:: SLITRK6 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.85795597T>C, NC_000013.10:g.86369732T>C, NG_041801.2:g.16087A>G, NM_032229.3:c.912A>G, NM_032229.2:c.912A>G

Select item 148228837813.

rs1482288378 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:85796472 (GRCh38)
13:86370607 (GRCh37)
Canonical SPDI:: NC_000013.11:85796471:G:A
Gene:: SLITRK6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.00001/2 (GnomAD_exomes)
HGVS:: NC_000013.11:g.85796472G>A, NC_000013.10:g.86370607G>A, NG_041801.2:g.15212C>T, NM_032229.3:c.37C>T, NM_032229.2:c.37C>T, NP_115605.2:p.Leu13Phe

Select item 148064975114.

rs1480649751 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 13:85796130 (GRCh38)
13:86370265 (GRCh37)
Canonical SPDI:: NC_000013.11:85796129:G:C
Gene:: SLITRK6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.85796130G>C, NC_000013.10:g.86370265G>C, NG_041801.2:g.15554C>G, NM_032229.3:c.379C>G, NM_032229.2:c.379C>G, NP_115605.2:p.Leu127Val

Select item 148009194515.

rs1480091945 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 13:85796124 (GRCh38)
13:86370260 (GRCh37)
Canonical SPDI:: NC_000013.11:85796124:TTT:TTTT
Gene:: SLITRK6 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.85796127dup, NC_000013.10:g.86370262dup, NG_041801.2:g.15559dup, NM_032229.3:c.384dup, NM_032229.2:c.384dup, NP_115605.2:p.Glu129fs

Select item 147987214316.

rs1479872143 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:85794098 (GRCh38)
13:86368233 (GRCh37)
Canonical SPDI:: NC_000013.11:85794097:A:G
Gene:: SLITRK6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000013.11:g.85794098A>G, NC_000013.10:g.86368233A>G, NG_041801.2:g.17586T>C, NM_032229.3:c.2411T>C, NM_032229.2:c.2411T>C, NP_115605.2:p.Met804Thr

Select item 147847173017.

rs1478471730 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 13:85795791 (GRCh38)
13:86369926 (GRCh37)
Canonical SPDI:: NC_000013.11:85795790:A:C
Gene:: SLITRK6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.85795791A>C, NC_000013.10:g.86369926A>C, NG_041801.2:g.15893T>G, NM_032229.3:c.718T>G, NM_032229.2:c.718T>G, NP_115605.2:p.Ser240Ala

Select item 147817840018.

rs1478178400 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 13:85795071 (GRCh38)
13:86369206 (GRCh37)
Canonical SPDI:: NC_000013.11:85795070:A:C
Gene:: SLITRK6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.85795071A>C, NC_000013.10:g.86369206A>C, NG_041801.2:g.16613T>G, NM_032229.3:c.1438T>G, NM_032229.2:c.1438T>G, NP_115605.2:p.Ser480Ala

Select item 147656505319.

rs1476565053 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:85794455 (GRCh38)
13:86368590 (GRCh37)
Canonical SPDI:: NC_000013.11:85794454:G:A
Gene:: SLITRK6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.85794455G>A, NC_000013.10:g.86368590G>A, NG_041801.2:g.17229C>T, NM_032229.3:c.2054C>T, NM_032229.2:c.2054C>T, NP_115605.2:p.Pro685Leu

Select item 147655367920.

rs1476553679 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 13:85794563 (GRCh38)
13:86368698 (GRCh37)
Canonical SPDI:: NC_000013.11:85794562:C:G
Gene:: SLITRK6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.85794563C>G, NC_000013.10:g.86368698C>G, NG_041801.2:g.17121G>C, NM_032229.3:c.1946G>C, NM_032229.2:c.1946G>C, NP_115605.2:p.Arg649Thr

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