SNP Links for Protein (Select 400153696) - SNP

Links from Protein

Items: 1 to 20 of 176

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Select item 14893228701.

rs1489322870 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 4:44717240 (GRCh38)
4:44719257 (GRCh37)
Canonical SPDI:: NC_000004.12:44717239:AAAAAAA:AAAAAA
Gene:: GNPDA2 (Varview)
Functional Consequence:: intron_variant,frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
HGVS:: NC_000004.12:g.44717246del, NC_000004.11:g.44719263del, NM_138335.3:c.282del, NM_138335.2:c.282del, NR_073094.2:n.241del, NR_073094.1:n.319del, NM_001270880.2:c.180del, NM_001270880.1:c.180del, NM_001270881.2:c.72del, NM_001270881.1:c.72del, XR_007096361.1:n.400del, NP_612208.1:p.Phe94fs, NP_001257809.1:p.Phe60fs, NP_001257810.1:p.Phe24fs

Select item 14825239992.

rs1482523999 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:44707887 (GRCh38)
4:44709904 (GRCh37)
Canonical SPDI:: NC_000004.12:44707886:G:C
Gene:: GNPDA2 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.44707887G>C, NC_000004.11:g.44709904G>C, NM_138335.3:c.634C>G, NM_138335.2:c.634C>G, NR_073094.2:n.657C>G, NR_073094.1:n.735C>G, NM_001270880.2:c.532C>G, NM_001270880.1:c.532C>G, NM_001270881.2:c.424C>G, NM_001270881.1:c.424C>G, NR_073095.2:n.308C>G, NR_073095.1:n.386C>G, NP_612208.1:p.Leu212Val, NP_001257809.1:p.Leu178Val, NP_001257810.1:p.Leu142Val

Select item 14724614503.

rs1472461450 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:44711113 (GRCh38)
4:44713130 (GRCh37)
Canonical SPDI:: NC_000004.12:44711112:G:A
Gene:: GNPDA2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.44711113G>A, NC_000004.11:g.44713130G>A, NM_138335.3:c.434C>T, NM_138335.2:c.434C>T, NR_073094.2:n.457C>T, NR_073094.1:n.535C>T, NM_001270880.2:c.332C>T, NM_001270880.1:c.332C>T, NM_001270881.2:c.224C>T, NM_001270881.1:c.224C>T, NR_073095.2:n.108C>T, NR_073095.1:n.186C>T, XR_007096361.1:n.616C>T, NP_612208.1:p.Ala145Val, NP_001257809.1:p.Ala111Val, NP_001257810.1:p.Ala75Val

Select item 14597460004.

rs1459746000 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:44717268 (GRCh38)
4:44719285 (GRCh37)
Canonical SPDI:: NC_000004.12:44717267:T:C
Gene:: GNPDA2 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.44717268T>C, NC_000004.11:g.44719285T>C, NM_138335.3:c.254A>G, NM_138335.2:c.254A>G, NR_073094.2:n.213A>G, NR_073094.1:n.291A>G, NM_001270880.2:c.152A>G, NM_001270880.1:c.152A>G, NM_001270881.2:c.44A>G, NM_001270881.1:c.44A>G, XR_007096361.1:n.372A>G, NP_612208.1:p.Tyr85Cys, NP_001257809.1:p.Tyr51Cys, NP_001257810.1:p.Tyr15Cys

Select item 14589840905.

rs1458984090 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:44711118 (GRCh38)
4:44713135 (GRCh37)
Canonical SPDI:: NC_000004.12:44711117:A:G
Gene:: GNPDA2 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.44711118A>G, NC_000004.11:g.44713135A>G, NM_138335.3:c.429T>C, NM_138335.2:c.429T>C, NR_073094.2:n.452T>C, NR_073094.1:n.530T>C, NM_001270880.2:c.327T>C, NM_001270880.1:c.327T>C, NM_001270881.2:c.219T>C, NM_001270881.1:c.219T>C, NR_073095.2:n.103T>C, NR_073095.1:n.181T>C, XR_007096361.1:n.611T>C

Select item 14563438096.

rs1456343809 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:44707809 (GRCh38)
4:44709826 (GRCh37)
Canonical SPDI:: NC_000004.12:44707808:C:T
Gene:: GNPDA2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.44707809C>T, NC_000004.11:g.44709826C>T, NM_138335.3:c.712G>A, NM_138335.2:c.712G>A, NR_073094.2:n.735G>A, NR_073094.1:n.813G>A, NM_001270880.2:c.610G>A, NM_001270880.1:c.610G>A, NM_001270881.2:c.502G>A, NM_001270881.1:c.502G>A, NR_073095.2:n.386G>A, NR_073095.1:n.464G>A, NP_612208.1:p.Val238Ile, NP_001257809.1:p.Val204Ile, NP_001257810.1:p.Val168Ile

Select item 14552089467.

rs1455208946 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:44707819 (GRCh38)
4:44709836 (GRCh37)
Canonical SPDI:: NC_000004.12:44707818:C:A
Gene:: GNPDA2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.44707819C>A, NC_000004.11:g.44709836C>A, NM_138335.3:c.702G>T, NM_138335.2:c.702G>T, NR_073094.2:n.725G>T, NR_073094.1:n.803G>T, NM_001270880.2:c.600G>T, NM_001270880.1:c.600G>T, NM_001270881.2:c.492G>T, NM_001270881.1:c.492G>T, NR_073095.2:n.376G>T, NR_073095.1:n.454G>T

Select item 14525248858.

rs1452524885 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:44710996 (GRCh38)
4:44713013 (GRCh37)
Canonical SPDI:: NC_000004.12:44710995:A:G
Gene:: GNPDA2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant,downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.44710996A>G, NC_000004.11:g.44713013A>G, NM_138335.3:c.551T>C, NM_138335.2:c.551T>C, NR_073094.2:n.574T>C, NR_073094.1:n.652T>C, NM_001270880.2:c.449T>C, NM_001270880.1:c.449T>C, NM_001270881.2:c.341T>C, NM_001270881.1:c.341T>C, NR_073095.2:n.225T>C, NR_073095.1:n.303T>C, NP_612208.1:p.Met184Thr, NP_001257809.1:p.Met150Thr, NP_001257810.1:p.Met114Thr

Select item 14513172759.

rs1451317275 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:44717247 (GRCh38)
4:44719264 (GRCh37)
Canonical SPDI:: NC_000004.12:44717246:T:G
Gene:: GNPDA2 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.44717247T>G, NC_000004.11:g.44719264T>G, NM_138335.3:c.275A>C, NM_138335.2:c.275A>C, NR_073094.2:n.234A>C, NR_073094.1:n.312A>C, NM_001270880.2:c.173A>C, NM_001270880.1:c.173A>C, NM_001270881.2:c.65A>C, NM_001270881.1:c.65A>C, XR_007096361.1:n.393A>C, NP_612208.1:p.Asn92Thr, NP_001257809.1:p.Asn58Thr, NP_001257810.1:p.Asn22Thr

Select item 145014466010.

rs1450144660 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:44703113 (GRCh38)
4:44705130 (GRCh37)
Canonical SPDI:: NC_000004.12:44703112:C:T
Gene:: GNPDA2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.44703113C>T, NC_000004.11:g.44705130C>T, NM_138335.3:c.799G>A, NM_138335.2:c.799G>A, NR_073094.2:n.822G>A, NR_073094.1:n.900G>A, NM_001270880.2:c.697G>A, NM_001270880.1:c.697G>A, NM_001270881.2:c.589G>A, NM_001270881.1:c.589G>A, NR_073095.2:n.473G>A, NR_073095.1:n.551G>A, NP_612208.1:p.Asp267Asn, NP_001257809.1:p.Asp233Asn, NP_001257810.1:p.Asp197Asn

Select item 144753755911.

rs1447537559 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:44711012 (GRCh38)
4:44713029 (GRCh37)
Canonical SPDI:: NC_000004.12:44711011:A:G
Gene:: GNPDA2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant,downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.44711012A>G, NC_000004.11:g.44713029A>G, NM_138335.3:c.535T>C, NM_138335.2:c.535T>C, NR_073094.2:n.558T>C, NR_073094.1:n.636T>C, NM_001270880.2:c.433T>C, NM_001270880.1:c.433T>C, NM_001270881.2:c.325T>C, NM_001270881.1:c.325T>C, NR_073095.2:n.209T>C, NR_073095.1:n.287T>C, NP_612208.1:p.Ser179Pro, NP_001257809.1:p.Ser145Pro, NP_001257810.1:p.Ser109Pro

Select item 144610791012.

rs1446107910 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:44717189 (GRCh38)
4:44719206 (GRCh37)
Canonical SPDI:: NC_000004.12:44717188:A:G
Gene:: GNPDA2 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000004.12:g.44717189A>G, NC_000004.11:g.44719206A>G, NM_138335.3:c.333T>C, NM_138335.2:c.333T>C, NR_073094.2:n.292T>C, NR_073094.1:n.370T>C, NM_001270880.2:c.231T>C, NM_001270880.1:c.231T>C, NM_001270881.2:c.123T>C, NM_001270881.1:c.123T>C, XR_007096361.1:n.451T>C

Select item 143828114513.

rs1438281145 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:44717286 (GRCh38)
4:44719303 (GRCh37)
Canonical SPDI:: NC_000004.12:44717285:C:A
Gene:: GNPDA2 (Varview)
Functional Consequence:: intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.44717286C>A, NC_000004.11:g.44719303C>A, NM_138335.3:c.236G>T, NM_138335.2:c.236G>T, NR_073094.2:n.195G>T, NR_073094.1:n.273G>T, NM_001270880.2:c.134G>T, NM_001270880.1:c.134G>T, NM_001270881.2:c.26G>T, NM_001270881.1:c.26G>T, XR_007096361.1:n.354G>T, NP_612208.1:p.Arg79Ile, NP_001257809.1:p.Arg45Ile, NP_001257810.1:p.Arg9Ile

Select item 143756830014.

rs1437568300 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:44711043 (GRCh38)
4:44713060 (GRCh37)
Canonical SPDI:: NC_000004.12:44711042:C:T
Gene:: GNPDA2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,downstream_transcript_variant,genic_downstream_transcript_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_000004.12:g.44711043C>T, NC_000004.11:g.44713060C>T, NM_138335.3:c.504G>A, NM_138335.2:c.504G>A, NR_073094.2:n.527G>A, NR_073094.1:n.605G>A, NM_001270880.2:c.402G>A, NM_001270880.1:c.402G>A, NM_001270881.2:c.294G>A, NM_001270881.1:c.294G>A, NR_073095.2:n.178G>A, NR_073095.1:n.256G>A

Select item 142264123715.

rs1422641237 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:44707791 (GRCh38)
4:44709808 (GRCh37)
Canonical SPDI:: NC_000004.12:44707790:T:C
Gene:: GNPDA2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000021/3 (GnomAD)
HGVS:: NC_000004.12:g.44707791T>C, NC_000004.11:g.44709808T>C, NM_138335.3:c.730A>G, NM_138335.2:c.730A>G, NR_073094.2:n.753A>G, NR_073094.1:n.831A>G, NM_001270880.2:c.628A>G, NM_001270880.1:c.628A>G, NM_001270881.2:c.520A>G, NM_001270881.1:c.520A>G, NR_073095.2:n.404A>G, NR_073095.1:n.482A>G, NP_612208.1:p.Thr244Ala, NP_001257809.1:p.Thr210Ala, NP_001257810.1:p.Thr174Ala

Select item 142220388616.

rs1422203886 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:44703141 (GRCh38)
4:44705158 (GRCh37)
Canonical SPDI:: NC_000004.12:44703140:A:C
Gene:: GNPDA2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,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 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.44703141A>C, NC_000004.11:g.44705158A>C, NM_138335.3:c.771T>G, NM_138335.2:c.771T>G, NR_073094.2:n.794T>G, NR_073094.1:n.872T>G, NM_001270880.2:c.669T>G, NM_001270880.1:c.669T>G, NM_001270881.2:c.561T>G, NM_001270881.1:c.561T>G, NR_073095.2:n.445T>G, NR_073095.1:n.523T>G

Select item 141751322217.

rs1417513222 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:44717153 (GRCh38)
4:44719170 (GRCh37)
Canonical SPDI:: NC_000004.12:44717152:G:T
Gene:: GNPDA2 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.44717153G>T, NC_000004.11:g.44719170G>T, NM_138335.3:c.369C>A, NM_138335.2:c.369C>A, NR_073094.2:n.328C>A, NR_073094.1:n.406C>A, NM_001270880.2:c.267C>A, NM_001270880.1:c.267C>A, NM_001270881.2:c.159C>A, NM_001270881.1:c.159C>A, XR_007096361.1:n.487C>A, NP_612208.1:p.Asn123Lys, NP_001257809.1:p.Asn89Lys, NP_001257810.1:p.Asn53Lys

Select item 141450867118.

rs1414508671 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:44711018 (GRCh38)
4:44713035 (GRCh37)
Canonical SPDI:: NC_000004.12:44711017:C:T
Gene:: GNPDA2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.000008/2 (GnomAD_exomes)
T=0.000248/4 (TOMMO)
HGVS:: NC_000004.12:g.44711018C>T, NC_000004.11:g.44713035C>T, NM_138335.3:c.529G>A, NM_138335.2:c.529G>A, NR_073094.2:n.552G>A, NR_073094.1:n.630G>A, NM_001270880.2:c.427G>A, NM_001270880.1:c.427G>A, NM_001270881.2:c.319G>A, NM_001270881.1:c.319G>A, NR_073095.2:n.203G>A, NR_073095.1:n.281G>A, NP_612208.1:p.Asp177Asn, NP_001257809.1:p.Asp143Asn, NP_001257810.1:p.Asp107Asn

Select item 140451925519.

rs1404519255 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:44711020 (GRCh38)
4:44713037 (GRCh37)
Canonical SPDI:: NC_000004.12:44711019:C:T
Gene:: GNPDA2 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.44711020C>T, NC_000004.11:g.44713037C>T, NM_138335.3:c.527G>A, NM_138335.2:c.527G>A, NR_073094.2:n.550G>A, NR_073094.1:n.628G>A, NM_001270880.2:c.425G>A, NM_001270880.1:c.425G>A, NM_001270881.2:c.317G>A, NM_001270881.1:c.317G>A, NR_073095.2:n.201G>A, NR_073095.1:n.279G>A, NP_612208.1:p.Gly176Glu, NP_001257809.1:p.Gly142Glu, NP_001257810.1:p.Gly106Glu

Select item 139482561320.

rs1394825613 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:44717188 (GRCh38)
4:44719205 (GRCh37)
Canonical SPDI:: NC_000004.12:44717187:C:G
Gene:: GNPDA2 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.44717188C>G, NC_000004.11:g.44719205C>G, NM_138335.3:c.334G>C, NM_138335.2:c.334G>C, NR_073094.2:n.293G>C, NR_073094.1:n.371G>C, NM_001270880.2:c.232G>C, NM_001270880.1:c.232G>C, NM_001270881.2:c.124G>C, NM_001270881.1:c.124G>C, XR_007096361.1:n.452G>C, NP_612208.1:p.Ala112Pro, NP_001257809.1:p.Ala78Pro, NP_001257810.1:p.Ala42Pro

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