SNP Links for Protein (Select 209571523) - SNP

Links from Protein

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Select item 14897358341.

rs1489735834 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:129085080 (GRCh38)
9:131847359 (GRCh37)
Canonical SPDI:: NC_000009.12:129085079:G:A
Gene:: DOLPP1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.129085080G>A, NC_000009.11:g.131847359G>A, NM_020438.5:c.235G>A, NM_020438.4:c.235G>A, NM_001135917.2:c.235G>A, NM_001135917.1:c.235G>A, NP_065171.2:p.Val79Ile, NP_001129389.1:p.Val79Ile

Select item 14853450922.

rs1485345092 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:129085549 (GRCh38)
9:131847828 (GRCh37)
Canonical SPDI:: NC_000009.12:129085548:G:A
Gene:: DOLPP1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
HGVS:: NC_000009.12:g.129085549G>A, NC_000009.11:g.131847828G>A, NM_020438.5:c.394G>A, NM_020438.4:c.394G>A, NM_001135917.2:c.394G>A, NM_001135917.1:c.394G>A, NR_072983.2:n.330G>A, NR_072983.1:n.337G>A, NP_065171.2:p.Asp132Asn, NP_001129389.1:p.Asp132Asn

Select item 14835889033.

rs1483588903 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCT>- [Show Flanks]
Chromosome:: 9:129085273 (GRCh38)
9:131847552 (GRCh37)
Canonical SPDI:: NC_000009.12:129085268:TTCTTCT:TTCT
Gene:: DOLPP1 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion,non_coding_transcript_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.129085270TCT[1], NC_000009.11:g.131847549TCT[1], NM_020438.5:c.326TCT[1], NM_020438.4:c.326TCT[1], NM_001135917.2:c.326TCT[1], NM_001135917.1:c.326TCT[1], NR_072983.2:n.262TCT[1], NR_072983.1:n.269TCT[1], NP_065171.2:p.Phe110del, NP_001129389.1:p.Phe110del

Select item 14754889414.

rs1475488941 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:129086788 (GRCh38)
9:131849067 (GRCh37)
Canonical SPDI:: NC_000009.12:129086787:G:A
Gene:: DOLPP1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.129086788G>A, NC_000009.11:g.131849067G>A, NM_020438.5:c.670G>A, NM_020438.4:c.670G>A, NM_001135917.2:c.541G>A, NM_001135917.1:c.541G>A, NR_072983.2:n.477G>A, NR_072983.1:n.484G>A, NP_065171.2:p.Ala224Thr, NP_001129389.1:p.Ala181Thr

Select item 14644914885.

rs1464491488 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:129085107 (GRCh38)
9:131847386 (GRCh37)
Canonical SPDI:: NC_000009.12:129085106:G:A
Gene:: DOLPP1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.129085107G>A, NC_000009.11:g.131847386G>A, NM_020438.5:c.262G>A, NM_020438.4:c.262G>A, NM_001135917.2:c.262G>A, NM_001135917.1:c.262G>A, NP_065171.2:p.Gly88Ser, NP_001129389.1:p.Gly88Ser

Select item 14637188316.

rs1463718831 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:129085095 (GRCh38)
9:131847374 (GRCh37)
Canonical SPDI:: NC_000009.12:129085094:C:T
Gene:: DOLPP1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_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_000009.12:g.129085095C>T, NC_000009.11:g.131847374C>T, NM_020438.5:c.250C>T, NM_020438.4:c.250C>T, NM_001135917.2:c.250C>T, NM_001135917.1:c.250C>T, NP_065171.2:p.Arg84Trp, NP_001129389.1:p.Arg84Trp

Select item 14584374167.

rs1458437416 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:129086712 (GRCh38)
9:131848991 (GRCh37)
Canonical SPDI:: NC_000009.12:129086711:T:C
Gene:: DOLPP1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.129086712T>C, NC_000009.11:g.131848991T>C, NM_020438.5:c.594T>C, NM_020438.4:c.594T>C, NM_001135917.2:c.465T>C, NM_001135917.1:c.465T>C, NR_072983.2:n.401T>C, NR_072983.1:n.408T>C

Select item 14503409038.

rs1450340903 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:129084695 (GRCh38)
9:131846974 (GRCh37)
Canonical SPDI:: NC_000009.12:129084694:A:G
Gene:: DOLPP1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_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_000009.12:g.129084695A>G, NC_000009.11:g.131846974A>G, NM_020438.5:c.104A>G, NM_020438.4:c.104A>G, NM_001135917.2:c.104A>G, NM_001135917.1:c.104A>G, NR_072983.2:n.125A>G, NR_072983.1:n.132A>G, NP_065171.2:p.Tyr35Cys, NP_001129389.1:p.Tyr35Cys

Select item 14448940899.

rs1444894089 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:129088983 (GRCh38)
9:131851262 (GRCh37)
Canonical SPDI:: NC_000009.12:129088982:C:T
Gene:: DOLPP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.129088983C>T, NC_000009.11:g.131851262C>T, NM_020438.5:c.693C>T, NM_020438.4:c.693C>T, NM_001135917.2:c.564C>T, NM_001135917.1:c.564C>T, NR_072983.2:n.500C>T, NR_072983.1:n.507C>T

Select item 143613480210.

rs1436134802 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:129084679 (GRCh38)
9:131846958 (GRCh37)
Canonical SPDI:: NC_000009.12:129084678:G:A
Gene:: DOLPP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.0001/1 (ALFA)
HGVS:: NC_000009.12:g.129084679G>A, NC_000009.11:g.131846958G>A, NM_020438.5:c.88G>A, NM_020438.4:c.88G>A, NM_001135917.2:c.88G>A, NM_001135917.1:c.88G>A, NR_072983.2:n.109G>A, NR_072983.1:n.116G>A, NP_065171.2:p.Gly30Ser, NP_001129389.1:p.Gly30Ser

Select item 143599711511.

rs1435997115 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:129085594 (GRCh38)
9:131847873 (GRCh37)
Canonical SPDI:: NC_000009.12:129085593:G:A
Gene:: DOLPP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.129085594G>A, NC_000009.11:g.131847873G>A, NM_020438.5:c.439G>A, NM_020438.4:c.439G>A, NM_001135917.2:c.439G>A, NM_001135917.1:c.439G>A, NR_072983.2:n.375G>A, NR_072983.1:n.382G>A, NP_065171.2:p.Ala147Thr, NP_001129389.1:p.Ala147Thr

Select item 142836696412.

rs1428366964 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 9:129081139 (GRCh38)
9:131843418 (GRCh37)
Canonical SPDI:: NC_000009.12:129081138:C:G,NC_000009.12:129081138:C:T
Gene:: DOLPP1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.129081139C>G, NC_000009.12:g.129081139C>T, NC_000009.11:g.131843418C>G, NC_000009.11:g.131843418C>T, NM_020438.5:c.8C>G, NM_020438.5:c.8C>T, NM_020438.4:c.8C>G, NM_020438.4:c.8C>T, NM_001135917.2:c.8C>G, NM_001135917.2:c.8C>T, NM_001135917.1:c.8C>G, NM_001135917.1:c.8C>T, NR_072983.2:n.29C>G, NR_072983.2:n.29C>T, NR_072983.1:n.36C>G, NR_072983.1:n.36C>T, NP_065171.2:p.Ala3Gly, NP_065171.2:p.Ala3Val, NP_001129389.1:p.Ala3Gly, NP_001129389.1:p.Ala3Val

Select item 141135153413.

rs1411351534 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:129084720 (GRCh38)
9:131846999 (GRCh37)
Canonical SPDI:: NC_000009.12:129084719:C:A
Gene:: DOLPP1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000009.12:g.129084720C>A, NC_000009.11:g.131846999C>A, NM_020438.5:c.129C>A, NM_020438.4:c.129C>A, NM_001135917.2:c.129C>A, NM_001135917.1:c.129C>A, NR_072983.2:n.150C>A, NR_072983.1:n.157C>A

Select item 140081764914.

rs1400817649 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 9:129085207 (GRCh38)
9:131847486 (GRCh37)
Canonical SPDI:: NC_000009.12:129085206:G:A,NC_000009.12:129085206:G:T
Gene:: DOLPP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000009.12:g.129085207G>A, NC_000009.12:g.129085207G>T, NC_000009.11:g.131847486G>A, NC_000009.11:g.131847486G>T, NM_020438.5:c.263G>A, NM_020438.5:c.263G>T, NM_020438.4:c.263G>A, NM_020438.4:c.263G>T, NM_001135917.2:c.263G>A, NM_001135917.2:c.263G>T, NM_001135917.1:c.263G>A, NM_001135917.1:c.263G>T, NR_072983.2:n.199G>A, NR_072983.2:n.199G>T, NR_072983.1:n.206G>A, NR_072983.1:n.206G>T, NP_065171.2:p.Gly88Asp, NP_065171.2:p.Gly88Val, NP_001129389.1:p.Gly88Asp, NP_001129389.1:p.Gly88Val

Select item 139277051915.

rs1392770519 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 9:129085039 (GRCh38)
9:131847318 (GRCh37)
Canonical SPDI:: NC_000009.12:129085038:G:A,NC_000009.12:129085038:G:T
Gene:: DOLPP1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000005/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.129085039G>A, NC_000009.12:g.129085039G>T, NC_000009.11:g.131847318G>A, NC_000009.11:g.131847318G>T, NM_020438.5:c.194G>A, NM_020438.5:c.194G>T, NM_020438.4:c.194G>A, NM_020438.4:c.194G>T, NM_001135917.2:c.194G>A, NM_001135917.2:c.194G>T, NM_001135917.1:c.194G>A, NM_001135917.1:c.194G>T, NP_065171.2:p.Gly65Asp, NP_065171.2:p.Gly65Val, NP_001129389.1:p.Gly65Asp, NP_001129389.1:p.Gly65Val

Select item 138717912316.

rs1387179123 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:129085040 (GRCh38)
9:131847319 (GRCh37)
Canonical SPDI:: NC_000009.12:129085039:C:A
Gene:: DOLPP1 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.129085040C>A, NC_000009.11:g.131847319C>A, NM_020438.5:c.195C>A, NM_020438.4:c.195C>A, NM_001135917.2:c.195C>A, NM_001135917.1:c.195C>A

Select item 138083277617.

rs1380832776 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:129084687 (GRCh38)
9:131846966 (GRCh37)
Canonical SPDI:: NC_000009.12:129084686:C:T
Gene:: DOLPP1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.129084687C>T, NC_000009.11:g.131846966C>T, NM_020438.5:c.96C>T, NM_020438.4:c.96C>T, NM_001135917.2:c.96C>T, NM_001135917.1:c.96C>T, NR_072983.2:n.117C>T, NR_072983.1:n.124C>T

Select item 138040185218.

rs1380401852 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:129085575 (GRCh38)
9:131847854 (GRCh37)
Canonical SPDI:: NC_000009.12:129085574:C:G
Gene:: DOLPP1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.129085575C>G, NC_000009.11:g.131847854C>G, NM_020438.5:c.420C>G, NM_020438.4:c.420C>G, NM_001135917.2:c.420C>G, NM_001135917.1:c.420C>G, NR_072983.2:n.356C>G, NR_072983.1:n.363C>G

Select item 137479666719.

rs1374796667 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 9:129081149 (GRCh38)
9:131843428 (GRCh37)
Canonical SPDI:: NC_000009.12:129081148:G:A,NC_000009.12:129081148:G:T
Gene:: DOLPP1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.129081149G>A, NC_000009.12:g.129081149G>T, NC_000009.11:g.131843428G>A, NC_000009.11:g.131843428G>T, NM_020438.5:c.18G>A, NM_020438.5:c.18G>T, NM_020438.4:c.18G>A, NM_020438.4:c.18G>T, NM_001135917.2:c.18G>A, NM_001135917.2:c.18G>T, NM_001135917.1:c.18G>A, NM_001135917.1:c.18G>T, NR_072983.2:n.39G>A, NR_072983.2:n.39G>T, NR_072983.1:n.46G>A, NR_072983.1:n.46G>T, NP_065171.2:p.Gln6His, NP_001129389.1:p.Gln6His

Select item 136758525720.

rs1367585257 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:129085593 (GRCh38)
9:131847872 (GRCh37)
Canonical SPDI:: NC_000009.12:129085592:G:A
Gene:: DOLPP1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.129085593G>A, NC_000009.11:g.131847872G>A, NM_020438.5:c.438G>A, NM_020438.4:c.438G>A, NM_001135917.2:c.438G>A, NM_001135917.1:c.438G>A, NR_072983.2:n.374G>A, NR_072983.1:n.381G>A

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