SNP Links for Protein (Select 194394165) - SNP

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Links from Protein

Items: 1 to 20 of 363

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Select item 14830813961.

rs1483081396 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:103897673 (GRCh38)
10:105657431 (GRCh37)
Canonical SPDI:: NC_000010.11:103897672:C:T
Gene:: STN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.103897673C>T, NC_000010.10:g.105657431C>T, NM_024928.5:c.628G>A, NM_024928.4:c.628G>A, NP_079204.2:p.Glu210Lys

Select item 14805702912.

rs1480570291 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:103917565 (GRCh38)
10:105677323 (GRCh37)
Canonical SPDI:: NC_000010.11:103917564:C:T
Gene:: STN1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000447/2 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000446/2 (Estonian)
HGVS:: NC_000010.11:g.103917565C>T, NC_000010.10:g.105677323C>T, NM_024928.5:c.30G>A, NM_024928.4:c.30G>A

Select item 14748271223.

rs1474827122 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:103882793 (GRCh38)
10:105642551 (GRCh37)
Canonical SPDI:: NC_000010.11:103882792:A:C
Gene:: STN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000546/1 (Korea1K)
C=0.000684/2 (KOREAN)
HGVS:: NC_000010.11:g.103882793A>C, NC_000010.10:g.105642551A>C, NM_024928.5:c.998T>G, NM_024928.4:c.998T>G, NP_079204.2:p.Leu333Arg

Select item 14723409734.

rs1472340973 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:103910580 (GRCh38)
10:105670338 (GRCh37)
Canonical SPDI:: NC_000010.11:103910579:A:G
Gene:: STN1 (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=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.103910580A>G, NC_000010.10:g.105670338A>G, NM_024928.5:c.176T>C, NM_024928.4:c.176T>C, NP_079204.2:p.Val59Ala

Select item 14699403165.

rs1469940316 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:103917493 (GRCh38)
10:105677251 (GRCh37)
Canonical SPDI:: NC_000010.11:103917492:G:A
Gene:: STN1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.103917493G>A, NC_000010.10:g.105677251G>A, NM_024928.5:c.102C>T, NM_024928.4:c.102C>T

Select item 14685407676.

rs1468540767 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:103882698 (GRCh38)
10:105642456 (GRCh37)
Canonical SPDI:: NC_000010.11:103882697:A:T
Gene:: STN1 (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=0.000014/2 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000010.11:g.103882698A>T, NC_000010.10:g.105642456A>T, NM_024928.5:c.1093T>A, NM_024928.4:c.1093T>A, NP_079204.2:p.Tyr365Asn

Select item 14673884777.

rs1467388477 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 10:103900067 (GRCh38)
10:105659825 (GRCh37)
Canonical SPDI:: NC_000010.11:103900066:G:A,NC_000010.11:103900066:G:C
Gene:: STN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.103900067G>A, NC_000010.11:g.103900067G>C, NC_000010.10:g.105659825G>A, NC_000010.10:g.105659825G>C, NM_024928.5:c.452C>T, NM_024928.5:c.452C>G, NM_024928.4:c.452C>T, NM_024928.4:c.452C>G, NP_079204.2:p.Thr151Ile, NP_079204.2:p.Thr151Ser

Select item 14621499658.

rs1462149965 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:103882735 (GRCh38)
10:105642493 (GRCh37)
Canonical SPDI:: NC_000010.11:103882734:C:T
Gene:: STN1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.103882735C>T, NC_000010.10:g.105642493C>T, NM_024928.5:c.1056G>A, NM_024928.4:c.1056G>A

Select item 14613320099.

rs1461332009 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:103892209 (GRCh38)
10:105651967 (GRCh37)
Canonical SPDI:: NC_000010.11:103892208:A:G
Gene:: STN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000010.11:g.103892209A>G, NC_000010.10:g.105651967A>G, NM_024928.5:c.797T>C, NM_024928.4:c.797T>C, NP_079204.2:p.Ile266Thr

Select item 146094917510.

rs1460949175 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:103882708 (GRCh38)
10:105642466 (GRCh37)
Canonical SPDI:: NC_000010.11:103882707:C:A
Gene:: STN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000010.11:g.103882708C>A, NC_000010.10:g.105642466C>A, NM_024928.5:c.1083G>T, NM_024928.4:c.1083G>T, NP_079204.2:p.Met361Ile

Select item 145712083111.

rs1457120831 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:103905105 (GRCh38)
10:105664863 (GRCh37)
Canonical SPDI:: NC_000010.11:103905104:G:C
Gene:: STN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000010.11:g.103905105G>C, NC_000010.10:g.105664863G>C, NM_024928.5:c.281C>G, NM_024928.4:c.281C>G, NP_079204.2:p.Thr94Ser

Select item 145365528212.

rs1453655282 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 10:103889123 (GRCh38)
10:105648881 (GRCh37)
Canonical SPDI:: NC_000010.11:103889122:G:A,NC_000010.11:103889122:G:C
Gene:: STN1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.103889123G>A, NC_000010.11:g.103889123G>C, NC_000010.10:g.105648881G>A, NC_000010.10:g.105648881G>C, NM_024928.5:c.898C>T, NM_024928.5:c.898C>G, NM_024928.4:c.898C>T, NM_024928.4:c.898C>G, NP_079204.2:p.Leu300Val

Select item 145307807613.

rs1453078076 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:103897654 (GRCh38)
10:105657412 (GRCh37)
Canonical SPDI:: NC_000010.11:103897653:A:T
Gene:: STN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.103897654A>T, NC_000010.10:g.105657412A>T, NM_024928.5:c.647T>A, NM_024928.4:c.647T>A, NP_079204.2:p.Leu216His

Select item 144961275114.

rs1449612751 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:103882822 (GRCh38)
10:105642580 (GRCh37)
Canonical SPDI:: NC_000010.11:103882821:G:C
Gene:: STN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000010.11:g.103882822G>C, NC_000010.10:g.105642580G>C, NM_024928.5:c.969C>G, NM_024928.4:c.969C>G, NP_079204.2:p.His323Gln

Select item 144927136615.

rs1449271366 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:103892144 (GRCh38)
10:105651902 (GRCh37)
Canonical SPDI:: NC_000010.11:103892143:C:G
Gene:: STN1 (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_000010.11:g.103892144C>G, NC_000010.10:g.105651902C>G, NM_024928.5:c.862G>C, NM_024928.4:c.862G>C, NP_079204.2:p.Asp288His

Select item 144676148116.

rs1446761481 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:103910566 (GRCh38)
10:105670324 (GRCh37)
Canonical SPDI:: NC_000010.11:103910565:T:C
Gene:: STN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.103910566T>C, NC_000010.10:g.105670324T>C, NM_024928.5:c.190A>G, NM_024928.4:c.190A>G, NP_079204.2:p.Ile64Val

Select item 144541851417.

rs1445418514 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:103910556 (GRCh38)
10:105670314 (GRCh37)
Canonical SPDI:: NC_000010.11:103910555:C:G
Gene:: STN1 (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=0.000015/4 (TOPMED)
HGVS:: NC_000010.11:g.103910556C>G, NC_000010.10:g.105670314C>G, NM_024928.5:c.200G>C, NM_024928.4:c.200G>C, NP_079204.2:p.Arg67Thr

Select item 144207123818.

rs1442071238 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:103910605 (GRCh38)
10:105670363 (GRCh37)
Canonical SPDI:: NC_000010.11:103910604:C:A
Gene:: STN1 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
HGVS:: NC_000010.11:g.103910605C>A, NC_000010.10:g.105670363C>A, NM_024928.5:c.151G>T, NM_024928.4:c.151G>T, NP_079204.2:p.Gly51Ter

Select item 143504540619.

rs1435045406 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 10:103900070 (GRCh38)
10:105659828 (GRCh37)
Canonical SPDI:: NC_000010.11:103900069:G:A,NC_000010.11:103900069:G:C
Gene:: STN1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.103900070G>A, NC_000010.11:g.103900070G>C, NC_000010.10:g.105659828G>A, NC_000010.10:g.105659828G>C, NM_024928.5:c.449C>T, NM_024928.5:c.449C>G, NM_024928.4:c.449C>T, NM_024928.4:c.449C>G, NP_079204.2:p.Thr150Ile, NP_079204.2:p.Thr150Ser

Select item 143245543520.

rs1432455435 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:103897702 (GRCh38)
10:105657460 (GRCh37)
Canonical SPDI:: NC_000010.11:103897701:T:G
Gene:: STN1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000010.11:g.103897702T>G, NC_000010.10:g.105657460T>G, NM_024928.5:c.599A>C, NM_024928.4:c.599A>C, NP_079204.2:p.Asp200Ala

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