SNP Links for Protein (Select 542133080) - SNP

Links from Protein

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Select item 14852935631.

rs1485293563 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 16:16387665 (GRCh38)
16:16481522 (GRCh37)
Canonical SPDI:: NC_000016.10:16387664:T:A
Gene:: NPIPA7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.00003/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.16387665T>A, NC_000016.9:g.16481522T>A, NT_187607.1:g.2048708T>A, NM_001282507.2:c.296T>A, NM_001282507.1:c.296T>A, NM_001282511.1:c.296T>A, NM_001282511.3:c.296T>A, NM_001282511.2:c.296T>A, NP_001269436.1:p.Ile99Asn

Select item 14842721572.

rs1484272157 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 16:16387487 (GRCh38)
16:16481344 (GRCh37)
Canonical SPDI:: NC_000016.10:16387486:G:A,NC_000016.10:16387486:G:T
Gene:: NPIPA7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000084/1 (ALFA)
T=0.000004/1 (TOPMED)
A=0.000033/3 (GnomAD)
A=0.000144/7 (GnomAD_exomes)
A=0.002874/8 (KOREAN)
A=0.009205/150 (TOMMO)
HGVS:: NC_000016.10:g.16387487G>A, NC_000016.10:g.16387487G>T, NC_000016.9:g.16481344G>A, NC_000016.9:g.16481344G>T, NT_187607.1:g.2048530G>A, NT_187607.1:g.2048530G>T, NM_001282507.2:c.281G>A, NM_001282507.2:c.281G>T, NM_001282507.1:c.281G>A, NM_001282507.1:c.281G>T, NM_001282511.1:c.281G>A, NM_001282511.1:c.281G>T, NM_001282511.3:c.281G>A, NM_001282511.3:c.281G>T, NM_001282511.2:c.281G>A, NM_001282511.2:c.281G>T, NP_001269436.1:p.Arg94His, NP_001269436.1:p.Arg94Leu

Select item 14829662643.

rs1482966264 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:16387664 (GRCh38)
16:16481521 (GRCh37)
Canonical SPDI:: NC_000016.10:16387663:A:G
Gene:: NPIPA7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000016.10:g.16387664A>G, NC_000016.9:g.16481521A>G, NT_187607.1:g.2048707A>G, NM_001282507.2:c.295A>G, NM_001282507.1:c.295A>G, NM_001282511.1:c.295A>G, NM_001282511.3:c.295A>G, NM_001282511.2:c.295A>G, NP_001269436.1:p.Ile99Val

Select item 14806086194.

rs1480608619 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:16390807 (GRCh38)
16:16484664 (GRCh37)
Canonical SPDI:: NC_000016.10:16390806:G:A
Gene:: NPIPA7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0161/191 (ALFA)
A=0.01185/113 (TOMMO)
A=0.02425/42 (KOREAN)
HGVS:: NC_000016.10:g.16390807G>A, NC_000016.9:g.16484664G>A, NT_187607.1:g.2051849G>A, NM_001282507.2:c.478G>A, NM_001282507.1:c.478G>A, NM_001282511.1:c.478G>A, NM_001282511.3:c.478G>A, NM_001282511.2:c.478G>A, NP_001269436.1:p.Glu160Lys

Select item 14789241495.

rs1478924149 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:16387775 (GRCh38)
16:16481632 (GRCh37)
Canonical SPDI:: NC_000016.10:16387774:A:G
Gene:: NPIPA7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.16387775A>G, NC_000016.9:g.16481632A>G, NT_187607.1:g.2048818A>G, NM_001282507.2:c.406A>G, NM_001282507.1:c.406A>G, NM_001282511.1:c.406A>G, NM_001282511.3:c.406A>G, NM_001282511.2:c.406A>G, NP_001269436.1:p.Ile136Val

Select item 14787483726.

rs1478748372 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 16:16390839 (GRCh38)
16:16484696 (GRCh37)
Canonical SPDI:: NC_000016.10:16390838:T:
Gene:: NPIPA7 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00001/1 (GnomAD)
HGVS:: NC_000016.10:g.16390839del, NC_000016.9:g.16484696del, NT_187607.1:g.2051881del, NM_001282507.2:c.510del, NM_001282507.1:c.510del, NM_001282511.1:c.510del, NM_001282511.3:c.510del, NM_001282511.2:c.510del, NP_001269436.1:p.Asn170fs

Select item 14728797777.

rs1472879777 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:16390792 (GRCh38)
16:16484649 (GRCh37)
Canonical SPDI:: NC_000016.10:16390791:C:G,NC_000016.10:16390791:C:T
Gene:: NPIPA7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00017/9 (GnomAD_exomes)
T=0.00095/2 (KOREAN)
HGVS:: NC_000016.10:g.16390792C>G, NC_000016.10:g.16390792C>T, NC_000016.9:g.16484649C>G, NC_000016.9:g.16484649C>T, NT_187607.1:g.2051834C>G, NT_187607.1:g.2051834C>T, NM_001282507.2:c.463C>G, NM_001282507.2:c.463C>T, NM_001282507.1:c.463C>G, NM_001282507.1:c.463C>T, NM_001282511.1:c.463C>G, NM_001282511.1:c.463C>T, NM_001282511.3:c.463C>G, NM_001282511.3:c.463C>T, NM_001282511.2:c.463C>G, NM_001282511.2:c.463C>T, NP_001269436.1:p.Arg155Gly, NP_001269436.1:p.Arg155Cys

Select item 14723822848.

rs1472382284 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:16387464 (GRCh38)
16:16481321 (GRCh37)
Canonical SPDI:: NC_000016.10:16387463:G:C
Gene:: NPIPA7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.00004/4 (GnomAD)
HGVS:: NC_000016.10:g.16387464G>C, NC_000016.9:g.16481321G>C, NT_187607.1:g.2048507G>C, NM_001282507.2:c.258G>C, NM_001282507.1:c.258G>C, NM_001282511.1:c.258G>C, NM_001282511.3:c.258G>C, NM_001282511.2:c.258G>C, NP_001269436.1:p.Gln86His

Select item 14718911139.

rs1471891113 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAGAG>- [Show Flanks]
Chromosome:: 16:16390805 (GRCh38)
16:16484662 (GRCh37)
Canonical SPDI:: NC_000016.10:16390800:AGAGAAGAG:AGAG
Gene:: NPIPA7 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0./0 (ALFA)
-=0.000009/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.16390805_16390809del, NC_000016.9:g.16484662_16484666del, NT_187607.1:g.2051847_2051851del, NM_001282507.2:c.476_480del, NM_001282507.1:c.476_480del, NM_001282511.1:c.476_480del, NM_001282511.3:c.476_480del, NM_001282511.2:c.476_480del, NP_001269436.1:p.Glu159fs

Select item 147054306310.

rs1470543063 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 16:16390772 (GRCh38)
16:16484629 (GRCh37)
Canonical SPDI:: NC_000016.10:16390771:G:A,NC_000016.10:16390771:G:C
Gene:: NPIPA7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
C=0.000046/1 (TOMMO)
HGVS:: NC_000016.10:g.16390772G>A, NC_000016.10:g.16390772G>C, NC_000016.9:g.16484629G>A, NC_000016.9:g.16484629G>C, NT_187607.1:g.2051814G>A, NT_187607.1:g.2051814G>C, NM_001282507.2:c.443G>A, NM_001282507.2:c.443G>C, NM_001282507.1:c.443G>A, NM_001282507.1:c.443G>C, NM_001282511.1:c.443G>A, NM_001282511.1:c.443G>C, NM_001282511.3:c.443G>A, NM_001282511.3:c.443G>C, NM_001282511.2:c.443G>A, NM_001282511.2:c.443G>C, NP_001269436.1:p.Arg148Lys, NP_001269436.1:p.Arg148Thr

Select item 146688605911.

rs1466886059 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:16387766 (GRCh38)
16:16481623 (GRCh37)
Canonical SPDI:: NC_000016.10:16387765:C:T
Gene:: NPIPA7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.00004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.16387766C>T, NC_000016.9:g.16481623C>T, NT_187607.1:g.2048809C>T, NM_001282507.2:c.397C>T, NM_001282507.1:c.397C>T, NM_001282511.1:c.397C>T, NM_001282511.3:c.397C>T, NM_001282511.2:c.397C>T, NP_001269436.1:p.His133Tyr

Select item 146112731512.

rs1461127315 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:16387452 (GRCh38)
16:16481309 (GRCh37)
Canonical SPDI:: NC_000016.10:16387451:G:A
Gene:: NPIPA7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00031/5 (ALFA)
A=0.00006/3 (GnomAD_exomes)
A=0.00072/2 (KOREAN)
HGVS:: NC_000016.10:g.16387452G>A, NC_000016.9:g.16481309G>A, NT_187607.1:g.2048495G>A, NM_001282507.2:c.246G>A, NM_001282507.1:c.246G>A, NM_001282511.1:c.246G>A, NM_001282511.3:c.246G>A, NM_001282511.2:c.246G>A

Select item 145885315013.

rs1458853150 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:16387458 (GRCh38)
16:16481315 (GRCh37)
Canonical SPDI:: NC_000016.10:16387457:A:G
Gene:: NPIPA7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000011/1 (GnomAD)
HGVS:: NC_000016.10:g.16387458A>G, NC_000016.9:g.16481315A>G, NT_187607.1:g.2048501A>G, NM_001282507.2:c.252A>G, NM_001282507.1:c.252A>G, NM_001282511.1:c.252A>G, NM_001282511.3:c.252A>G, NM_001282511.2:c.252A>G

Select item 145765642014.

rs1457656420 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:16387796 (GRCh38)
16:16481653 (GRCh37)
Canonical SPDI:: NC_000016.10:16387795:G:A
Gene:: NPIPA7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
G=0./0 (SGDP_PRJ)
HGVS:: NC_000016.10:g.16387796G>A, NC_000016.9:g.16481653G>A, NT_187607.1:g.2048839G>A, NM_001282507.2:c.427G>A, NM_001282507.1:c.427G>A, NM_001282511.1:c.427G>A, NM_001282511.3:c.427G>A, NM_001282511.2:c.427G>A, NP_001269436.1:p.Ala143Thr

Select item 145401045815.

rs1454010458 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:16390820 (GRCh38)
16:16484677 (GRCh37)
Canonical SPDI:: NC_000016.10:16390819:T:C
Gene:: NPIPA7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.16390820T>C, NC_000016.9:g.16484677T>C, NT_187607.1:g.2051862T>C, NM_001282507.2:c.491T>C, NM_001282507.1:c.491T>C, NM_001282511.1:c.491T>C, NM_001282511.3:c.491T>C, NM_001282511.2:c.491T>C, NP_001269436.1:p.Val164Ala

Select item 144844034216.

rs1448440342 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:16390806 (GRCh38)
16:16484663 (GRCh37)
Canonical SPDI:: NC_000016.10:16390805:A:G
Gene:: NPIPA7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000084/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000019/2 (GnomAD)
HGVS:: NC_000016.10:g.16390806A>G, NC_000016.9:g.16484663A>G, NT_187607.1:g.2051848A>G, NM_001282507.2:c.477A>G, NM_001282507.1:c.477A>G, NM_001282511.1:c.477A>G, NM_001282511.3:c.477A>G, NM_001282511.2:c.477A>G

Select item 144728404417.

rs1447284044 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:16387470 (GRCh38)
16:16481327 (GRCh37)
Canonical SPDI:: NC_000016.10:16387469:C:T
Gene:: NPIPA7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000016.10:g.16387470C>T, NC_000016.9:g.16481327C>T, NT_187607.1:g.2048513C>T, NM_001282507.2:c.264C>T, NM_001282507.1:c.264C>T, NM_001282511.1:c.264C>T, NM_001282511.3:c.264C>T, NM_001282511.2:c.264C>T

Select item 144366443518.

rs1443664435 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:16387415 (GRCh38)
16:16481272 (GRCh37)
Canonical SPDI:: NC_000016.10:16387414:C:A,NC_000016.10:16387414:C:T
Gene:: NPIPA7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000009/1 (GnomAD)
HGVS:: NC_000016.10:g.16387415C>A, NC_000016.10:g.16387415C>T, NC_000016.9:g.16481272C>A, NC_000016.9:g.16481272C>T, NT_187607.1:g.2048458C>A, NT_187607.1:g.2048458C>T, NM_001282507.2:c.209C>A, NM_001282507.2:c.209C>T, NM_001282507.1:c.209C>A, NM_001282507.1:c.209C>T, NM_001282511.1:c.209C>A, NM_001282511.1:c.209C>T, NM_001282511.3:c.209C>A, NM_001282511.3:c.209C>T, NM_001282511.2:c.209C>A, NM_001282511.2:c.209C>T, NP_001269436.1:p.Thr70Asn, NP_001269436.1:p.Thr70Ile

Select item 143892942219.

rs1438929422 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:16387744 (GRCh38)
16:16481601 (GRCh37)
Canonical SPDI:: NC_000016.10:16387743:G:A
Gene:: NPIPA7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00003/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.16387744G>A, NC_000016.9:g.16481601G>A, NT_187607.1:g.2048787G>A, NM_001282507.2:c.375G>A, NM_001282507.1:c.375G>A, NM_001282511.1:c.375G>A, NM_001282511.3:c.375G>A, NM_001282511.2:c.375G>A

Select item 143451127720.

rs1434511277 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:16387734 (GRCh38)
16:16481591 (GRCh37)
Canonical SPDI:: NC_000016.10:16387733:G:A
Gene:: NPIPA7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00329/39 (ALFA)
A=0.00206/51 (GnomAD)
A=0.00796/51 (1000Genomes)
HGVS:: NC_000016.10:g.16387734G>A, NC_000016.9:g.16481591G>A, NT_187607.1:g.2048777G>A, NM_001282507.2:c.365G>A, NM_001282507.1:c.365G>A, NM_001282511.1:c.365G>A, NM_001282511.3:c.365G>A, NM_001282511.2:c.365G>A, NP_001269436.1:p.Arg122His

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