SNP Links for Protein (Select 1034566342) - SNP

Links from Protein

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Select item 14895502631.

rs1489550263 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 10:122983016 (GRCh38)
10:124742532 (GRCh37)
Canonical SPDI:: NC_000010.11:122983015:C:G,NC_000010.11:122983015:C:T
Gene:: PSTK (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000010.11:g.122983016C>G, NC_000010.11:g.122983016C>T, NC_000010.10:g.124742532C>G, NC_000010.10:g.124742532C>T, NM_153336.3:c.500C>G, NM_153336.3:c.500C>T, NM_153336.2:c.500C>G, NM_153336.2:c.500C>T, XM_017015641.3:c.500C>G, XM_017015641.3:c.500C>T, XM_017015641.2:c.500C>G, XM_017015641.2:c.500C>T, XM_017015641.1:c.500C>G, XM_017015641.1:c.500C>T, XR_001747018.2:n.579C>G, XR_001747018.2:n.579C>T, XR_001747018.1:n.566C>G, XR_001747018.1:n.566C>T, NM_001363531.2:c.500C>G, NM_001363531.2:c.500C>T, NM_001363531.1:c.500C>G, NM_001363531.1:c.500C>T, NP_699167.2:p.Ala167Gly, NP_699167.2:p.Ala167Val, XP_016871130.1:p.Ala167Gly, XP_016871130.1:p.Ala167Val, NP_001350460.1:p.Ala167Gly, NP_001350460.1:p.Ala167Val

Select item 14780597862.

rs1478059786 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 10:122980683 (GRCh38)
10:124740199 (GRCh37)
Canonical SPDI:: NC_000010.11:122980682:A:C,NC_000010.11:122980682:A:G,NC_000010.11:122980682:A:T
Gene:: PSTK (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000048/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.122980683A>C, NC_000010.11:g.122980683A>G, NC_000010.11:g.122980683A>T, NC_000010.10:g.124740199A>C, NC_000010.10:g.124740199A>G, NC_000010.10:g.124740199A>T, NM_153336.3:c.204A>C, NM_153336.3:c.204A>G, NM_153336.3:c.204A>T, NM_153336.2:c.204A>C, NM_153336.2:c.204A>G, NM_153336.2:c.204A>T, XM_017015641.3:c.204A>C, XM_017015641.3:c.204A>G, XM_017015641.3:c.204A>T, XM_017015641.2:c.204A>C, XM_017015641.2:c.204A>G, XM_017015641.2:c.204A>T, XM_017015641.1:c.204A>C, XM_017015641.1:c.204A>G, XM_017015641.1:c.204A>T, XR_001747018.2:n.283A>C, XR_001747018.2:n.283A>G, XR_001747018.2:n.283A>T, XR_001747018.1:n.270A>C, XR_001747018.1:n.270A>G, XR_001747018.1:n.270A>T, NM_001363531.2:c.204A>C, NM_001363531.2:c.204A>G, NM_001363531.2:c.204A>T, NM_001363531.1:c.204A>C, NM_001363531.1:c.204A>G, NM_001363531.1:c.204A>T, NP_699167.2:p.Arg68Ser, NP_699167.2:p.Arg68Ser, XP_016871130.1:p.Arg68Ser, XP_016871130.1:p.Arg68Ser, NP_001350460.1:p.Arg68Ser, NP_001350460.1:p.Arg68Ser

Select item 14766644713.

rs1476664471 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:122980587 (GRCh38)
10:124740103 (GRCh37)
Canonical SPDI:: NC_000010.11:122980586:C:T
Gene:: PSTK (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.122980587C>T, NC_000010.10:g.124740103C>T, NM_153336.3:c.108C>T, NM_153336.2:c.108C>T, XM_017015641.3:c.108C>T, XM_017015641.2:c.108C>T, XM_017015641.1:c.108C>T, XR_001747018.2:n.187C>T, XR_001747018.1:n.174C>T, NM_001363531.2:c.108C>T, NM_001363531.1:c.108C>T

Select item 14630019604.

rs1463001960 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:122980660 (GRCh38)
10:124740176 (GRCh37)
Canonical SPDI:: NC_000010.11:122980659:G:A
Gene:: PSTK (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000010.11:g.122980660G>A, NC_000010.10:g.124740176G>A, NM_153336.3:c.181G>A, NM_153336.2:c.181G>A, XM_017015641.3:c.181G>A, XM_017015641.2:c.181G>A, XM_017015641.1:c.181G>A, XR_001747018.2:n.260G>A, XR_001747018.1:n.247G>A, NM_001363531.2:c.181G>A, NM_001363531.1:c.181G>A, NP_699167.2:p.Asp61Asn, XP_016871130.1:p.Asp61Asn, NP_001350460.1:p.Asp61Asn

Select item 14565676595.

rs1456567659 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:122980525 (GRCh38)
10:124740041 (GRCh37)
Canonical SPDI:: NC_000010.11:122980524:C:T
Gene:: PSTK (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.122980525C>T, NC_000010.10:g.124740041C>T, NM_153336.3:c.46C>T, NM_153336.2:c.46C>T, XM_017015641.3:c.46C>T, XM_017015641.2:c.46C>T, XM_017015641.1:c.46C>T, XR_001747018.2:n.125C>T, XR_001747018.1:n.112C>T, NM_001363531.2:c.46C>T, NM_001363531.1:c.46C>T, NP_699167.2:p.Arg16Trp, XP_016871130.1:p.Arg16Trp, NP_001350460.1:p.Arg16Trp

Select item 14526024466.

rs1452602446 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:122980557 (GRCh38)
10:124740073 (GRCh37)
Canonical SPDI:: NC_000010.11:122980556:C:T
Gene:: PSTK (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
HGVS:: NC_000010.11:g.122980557C>T, NC_000010.10:g.124740073C>T, NM_153336.3:c.78C>T, NM_153336.2:c.78C>T, XM_017015641.3:c.78C>T, XM_017015641.2:c.78C>T, XM_017015641.1:c.78C>T, XR_001747018.2:n.157C>T, XR_001747018.1:n.144C>T, NM_001363531.2:c.78C>T, NM_001363531.1:c.78C>T

Select item 14478846637.

rs1447884663 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:122983303 (GRCh38)
10:124742819 (GRCh37)
Canonical SPDI:: NC_000010.11:122983302:T:C
Gene:: PSTK (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.122983303T>C, NC_000010.10:g.124742819T>C, NM_153336.3:c.540T>C, NM_153336.2:c.540T>C, XM_017015641.3:c.540T>C, XM_017015641.2:c.540T>C, XM_017015641.1:c.540T>C, XR_001747018.2:n.619T>C, XR_001747018.1:n.606T>C, NM_001363531.2:c.540T>C, NM_001363531.1:c.540T>C

Select item 14439524638.

rs1443952463 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:122980509 (GRCh38)
10:124740025 (GRCh37)
Canonical SPDI:: NC_000010.11:122980508:C:G
Gene:: PSTK (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.122980509C>G, NC_000010.10:g.124740025C>G, NM_153336.3:c.30C>G, NM_153336.2:c.30C>G, XM_017015641.3:c.30C>G, XM_017015641.2:c.30C>G, XM_017015641.1:c.30C>G, XR_001747018.2:n.109C>G, XR_001747018.1:n.96C>G, NM_001363531.2:c.30C>G, NM_001363531.1:c.30C>G

Select item 14382157609.

rs1438215760 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:122980492 (GRCh38)
10:124740008 (GRCh37)
Canonical SPDI:: NC_000010.11:122980491:G:A
Gene:: PSTK (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.122980492G>A, NC_000010.10:g.124740008G>A, NM_153336.3:c.13G>A, NM_153336.2:c.13G>A, XM_017015641.3:c.13G>A, XM_017015641.2:c.13G>A, XM_017015641.1:c.13G>A, XR_001747018.2:n.92G>A, XR_001747018.1:n.79G>A, NM_001363531.2:c.13G>A, NM_001363531.1:c.13G>A, NP_699167.2:p.Glu5Lys, XP_016871130.1:p.Glu5Lys, NP_001350460.1:p.Glu5Lys

Select item 143505811310.

rs1435058113 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:122982931 (GRCh38)
10:124742447 (GRCh37)
Canonical SPDI:: NC_000010.11:122982930:A:C
Gene:: PSTK (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_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_000010.11:g.122982931A>C, NC_000010.10:g.124742447A>C, NM_153336.3:c.415A>C, NM_153336.2:c.415A>C, XM_017015641.3:c.415A>C, XM_017015641.2:c.415A>C, XM_017015641.1:c.415A>C, XR_001747018.2:n.494A>C, XR_001747018.1:n.481A>C, NM_001363531.2:c.415A>C, NM_001363531.1:c.415A>C, NP_699167.2:p.Lys139Gln, XP_016871130.1:p.Lys139Gln, NP_001350460.1:p.Lys139Gln

Select item 143333864111.

rs1433338641 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:122983020 (GRCh38)
10:124742536 (GRCh37)
Canonical SPDI:: NC_000010.11:122983019:G:A
Gene:: PSTK (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.122983020G>A, NC_000010.10:g.124742536G>A, NM_153336.3:c.504G>A, NM_153336.2:c.504G>A, XM_017015641.3:c.504G>A, XM_017015641.2:c.504G>A, XM_017015641.1:c.504G>A, XR_001747018.2:n.583G>A, XR_001747018.1:n.570G>A, NM_001363531.2:c.504G>A, NM_001363531.1:c.504G>A

Select item 142660378112.

rs1426603781 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:122980632 (GRCh38)
10:124740148 (GRCh37)
Canonical SPDI:: NC_000010.11:122980631:T:G
Gene:: PSTK (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.122980632T>G, NC_000010.10:g.124740148T>G, NM_153336.3:c.153T>G, NM_153336.2:c.153T>G, XM_017015641.3:c.153T>G, XM_017015641.2:c.153T>G, XM_017015641.1:c.153T>G, XR_001747018.2:n.232T>G, XR_001747018.1:n.219T>G, NM_001363531.2:c.153T>G, NM_001363531.1:c.153T>G

Select item 142391868113.

rs1423918681 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 10:122980625 (GRCh38)
10:124740141 (GRCh37)
Canonical SPDI:: NC_000010.11:122980624:C:G,NC_000010.11:122980624:C:T
Gene:: PSTK (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000010.11:g.122980625C>G, NC_000010.11:g.122980625C>T, NC_000010.10:g.124740141C>G, NC_000010.10:g.124740141C>T, NM_153336.3:c.146C>G, NM_153336.3:c.146C>T, NM_153336.2:c.146C>G, NM_153336.2:c.146C>T, XM_017015641.3:c.146C>G, XM_017015641.3:c.146C>T, XM_017015641.2:c.146C>G, XM_017015641.2:c.146C>T, XM_017015641.1:c.146C>G, XM_017015641.1:c.146C>T, XR_001747018.2:n.225C>G, XR_001747018.2:n.225C>T, XR_001747018.1:n.212C>G, XR_001747018.1:n.212C>T, NM_001363531.2:c.146C>G, NM_001363531.2:c.146C>T, NM_001363531.1:c.146C>G, NM_001363531.1:c.146C>T, NP_699167.2:p.Ala49Gly, NP_699167.2:p.Ala49Val, XP_016871130.1:p.Ala49Gly, XP_016871130.1:p.Ala49Val, NP_001350460.1:p.Ala49Gly, NP_001350460.1:p.Ala49Val

Select item 142259103914.

rs1422591039 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:122980585 (GRCh38)
10:124740101 (GRCh37)
Canonical SPDI:: NC_000010.11:122980584:C:T
Gene:: PSTK (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.122980585C>T, NC_000010.10:g.124740101C>T, NM_153336.3:c.106C>T, NM_153336.2:c.106C>T, XM_017015641.3:c.106C>T, XM_017015641.2:c.106C>T, XM_017015641.1:c.106C>T, XR_001747018.2:n.185C>T, XR_001747018.1:n.172C>T, NM_001363531.2:c.106C>T, NM_001363531.1:c.106C>T, NP_699167.2:p.Arg36Cys, XP_016871130.1:p.Arg36Cys, NP_001350460.1:p.Arg36Cys

Select item 141966454115.

rs1419664541 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 10:122983346 (GRCh38)
10:124742863 (GRCh37)
Canonical SPDI:: NC_000010.11:122983346:A:AA
Gene:: PSTK (Varview)
Functional Consequence:: frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.122983347dup, NC_000010.10:g.124742863dup, NM_153336.3:c.584dup, NM_153336.2:c.584dup, XM_017015641.3:c.584dup, XM_017015641.2:c.584dup, XM_017015641.1:c.584dup, XR_001747018.2:n.663dup, XR_001747018.1:n.650dup, NM_001363531.2:c.584dup, NM_001363531.1:c.584dup, NP_699167.2:p.Ala196fs, XP_016871130.1:p.Ala196fs, NP_001350460.1:p.Ala196fs

Select item 141898199916.

rs1418981999 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:122982950 (GRCh38)
10:124742466 (GRCh37)
Canonical SPDI:: NC_000010.11:122982949:C:G
Gene:: PSTK (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000087/2 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.122982950C>G, NC_000010.10:g.124742466C>G, NM_153336.3:c.434C>G, NM_153336.2:c.434C>G, XM_017015641.3:c.434C>G, XM_017015641.2:c.434C>G, XM_017015641.1:c.434C>G, XR_001747018.2:n.513C>G, XR_001747018.1:n.500C>G, NM_001363531.2:c.434C>G, NM_001363531.1:c.434C>G, NP_699167.2:p.Pro145Arg, XP_016871130.1:p.Pro145Arg, NP_001350460.1:p.Pro145Arg

Select item 141818867517.

rs1418188675 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:122980663 (GRCh38)
10:124740179 (GRCh37)
Canonical SPDI:: NC_000010.11:122980662:G:C
Gene:: PSTK (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_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=0.000011/3 (TOPMED)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000010.11:g.122980663G>C, NC_000010.10:g.124740179G>C, NM_153336.3:c.184G>C, NM_153336.2:c.184G>C, XM_017015641.3:c.184G>C, XM_017015641.2:c.184G>C, XM_017015641.1:c.184G>C, XR_001747018.2:n.263G>C, XR_001747018.1:n.250G>C, NM_001363531.2:c.184G>C, NM_001363531.1:c.184G>C, NP_699167.2:p.Ala62Pro, XP_016871130.1:p.Ala62Pro, NP_001350460.1:p.Ala62Pro

Select item 141558390518.

rs1415583905 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:122980638 (GRCh38)
10:124740154 (GRCh37)
Canonical SPDI:: NC_000010.11:122980637:C:A
Gene:: PSTK (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000031/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000010.11:g.122980638C>A, NC_000010.10:g.124740154C>A, NM_153336.3:c.159C>A, NM_153336.2:c.159C>A, XM_017015641.3:c.159C>A, XM_017015641.2:c.159C>A, XM_017015641.1:c.159C>A, XR_001747018.2:n.238C>A, XR_001747018.1:n.225C>A, NM_001363531.2:c.159C>A, NM_001363531.1:c.159C>A

Select item 141444242619.

rs1414442426 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:122983399 (GRCh38)
10:124742915 (GRCh37)
Canonical SPDI:: NC_000010.11:122983398:C:T
Gene:: PSTK (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.122983399C>T, NC_000010.10:g.124742915C>T, NM_153336.3:c.636C>T, NM_153336.2:c.636C>T, XM_017015641.3:c.636C>T, XM_017015641.2:c.636C>T, XM_017015641.1:c.636C>T, XR_001747018.2:n.715C>T, XR_001747018.1:n.702C>T, NM_001363531.2:c.636C>T, NM_001363531.1:c.636C>T

Select item 140686347520.

rs1406863475 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:122980544 (GRCh38)
10:124740060 (GRCh37)
Canonical SPDI:: NC_000010.11:122980543:T:C
Gene:: PSTK (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000010.11:g.122980544T>C, NC_000010.10:g.124740060T>C, NM_153336.3:c.65T>C, NM_153336.2:c.65T>C, XM_017015641.3:c.65T>C, XM_017015641.2:c.65T>C, XM_017015641.1:c.65T>C, XR_001747018.2:n.144T>C, XR_001747018.1:n.131T>C, NM_001363531.2:c.65T>C, NM_001363531.1:c.65T>C, NP_699167.2:p.Val22Ala, XP_016871130.1:p.Val22Ala, NP_001350460.1:p.Val22Ala

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