SNP Links for Protein (Select 20531765) - SNP

Links from Protein

Items: 1 to 20 of 162

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Select item 14843272221.

rs1484327222 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 13:49928062 (GRCh38)
13:50502198 (GRCh37)
Canonical SPDI:: NC_000013.11:49928061:T:A,NC_000013.11:49928061:T:C,NC_000013.11:49928061:T:G
Gene:: SPRYD7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
A=0.000015/4 (TOPMED)
A=0.00005/7 (GnomAD)
HGVS:: NC_000013.11:g.49928062T>A, NC_000013.11:g.49928062T>C, NC_000013.11:g.49928062T>G, NC_000013.10:g.50502198T>A, NC_000013.10:g.50502198T>C, NC_000013.10:g.50502198T>G, NM_020456.4:c.247A>T, NM_020456.4:c.247A>G, NM_020456.4:c.247A>C, NM_020456.3:c.247A>T, NM_020456.3:c.247A>G, NM_020456.3:c.247A>C, NM_020456.2:c.247A>T, NM_020456.2:c.247A>G, NM_020456.2:c.247A>C, NM_001127482.3:c.130A>T, NM_001127482.3:c.130A>G, NM_001127482.3:c.130A>C, NM_001127482.2:c.130A>T, NM_001127482.2:c.130A>G, NM_001127482.2:c.130A>C, NM_001127482.1:c.130A>T, NM_001127482.1:c.130A>G, NM_001127482.1:c.130A>C, XR_007063693.1:n.352A>T, XR_007063693.1:n.352A>G, XR_007063693.1:n.352A>C, XR_007063694.1:n.235A>T, XR_007063694.1:n.235A>G, XR_007063694.1:n.235A>C, NP_065189.1:p.Thr83Ser, NP_065189.1:p.Thr83Ala, NP_065189.1:p.Thr83Pro, NP_001120954.1:p.Thr44Ser, NP_001120954.1:p.Thr44Ala, NP_001120954.1:p.Thr44Pro

Select item 14706569072.

rs1470656907 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:49931063 (GRCh38)
13:50505199 (GRCh37)
Canonical SPDI:: NC_000013.11:49931062:A:G
Gene:: SPRYD7 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.49931063A>G, NC_000013.10:g.50505199A>G, NM_020456.4:c.178T>C, NM_020456.3:c.178T>C, NM_020456.2:c.178T>C, XR_007063693.1:n.283T>C

Select item 14693312113.

rs1469331211 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 13:49921548 (GRCh38)
13:50495684 (GRCh37)
Canonical SPDI:: NC_000013.11:49921547:T:A
Gene:: SPRYD7 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.49921548T>A, NC_000013.10:g.50495684T>A, NM_020456.4:c.423A>T, NM_020456.3:c.423A>T, NM_020456.2:c.423A>T, NM_001127482.3:c.306A>T, NM_001127482.2:c.306A>T, NM_001127482.1:c.306A>T, NR_023351.3:n.244A>T, NR_023351.2:n.405A>T, NR_023351.1:n.401A>T, XR_007063693.1:n.528A>T, XR_007063694.1:n.411A>T

Select item 14587774694.

rs1458777469 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 13:49915120 (GRCh38)
13:50489256 (GRCh37)
Canonical SPDI:: NC_000013.11:49915119:A:T
Gene:: SPRYD7 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0002/1 (ALFA)
T=0.0002/1 (Estonian)
HGVS:: NC_000013.11:g.49915120A>T, NC_000013.10:g.50489256A>T, NM_020456.4:c.534T>A, NM_020456.3:c.534T>A, NM_020456.2:c.534T>A, NM_001127482.3:c.417T>A, NM_001127482.2:c.417T>A, NM_001127482.1:c.417T>A, NR_023351.3:n.355T>A, NR_023351.2:n.516T>A, NR_023351.1:n.512T>A, XR_007063693.1:n.3072T>A, NP_065189.1:p.Phe178Leu, NP_001120954.1:p.Phe139Leu

Select item 14558088105.

rs1455808810 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 13:49936193 (GRCh38)
13:50510329 (GRCh37)
Canonical SPDI:: NC_000013.11:49936192:C:A
Gene:: SPRYD7 (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)
HGVS:: NC_000013.11:g.49936193C>A, NC_000013.10:g.50510329C>A, NM_020456.4:c.43G>T, NM_020456.3:c.43G>T, NM_020456.2:c.43G>T, NM_001127482.3:c.43G>T, NM_001127482.2:c.43G>T, NM_001127482.1:c.43G>T, NR_023351.3:n.148G>T, NR_023351.2:n.309G>T, NR_023351.1:n.305G>T, XR_007063693.1:n.148G>T, XR_007063694.1:n.148G>T, NP_065189.1:p.Gly15Trp, NP_001120954.1:p.Gly15Trp

Select item 14477456566.

rs1447745656 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAC>- [Show Flanks]
Chromosome:: 13:49921485 (GRCh38)
13:50495621 (GRCh37)
Canonical SPDI:: NC_000013.11:49921481:AACAAC:AAC
Gene:: SPRYD7 (Varview)
Functional Consequence:: non_coding_transcript_variant,inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AACAAC=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.49921482AAC[1], NC_000013.10:g.50495618AAC[1], NM_020456.4:c.484GTT[1], NM_020456.3:c.484GTT[1], NM_020456.2:c.484GTT[1], NM_001127482.3:c.367GTT[1], NM_001127482.2:c.367GTT[1], NM_001127482.1:c.367GTT[1], NR_023351.3:n.305GTT[1], NR_023351.2:n.466GTT[1], NR_023351.1:n.462GTT[1], XR_007063693.1:n.589GTT[1], XR_007063694.1:n.472GTT[1], NP_065189.1:p.Val163del, NP_001120954.1:p.Val124del

Select item 14459709007.

rs1445970900 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:49936181 (GRCh38)
13:50510317 (GRCh37)
Canonical SPDI:: NC_000013.11:49936180:G:A
Gene:: SPRYD7 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000013.11:g.49936181G>A, NC_000013.10:g.50510317G>A, NM_020456.4:c.55C>T, NM_020456.3:c.55C>T, NM_020456.2:c.55C>T, NM_001127482.3:c.55C>T, NM_001127482.2:c.55C>T, NM_001127482.1:c.55C>T, NR_023351.3:n.160C>T, NR_023351.2:n.321C>T, NR_023351.1:n.317C>T, XR_007063693.1:n.160C>T, XR_007063694.1:n.160C>T, NP_065189.1:p.His19Tyr, NP_001120954.1:p.His19Tyr

Select item 14455011868.

rs1445501186 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:49921534 (GRCh38)
13:50495670 (GRCh37)
Canonical SPDI:: NC_000013.11:49921533:T:C
Gene:: SPRYD7 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000013.11:g.49921534T>C, NC_000013.10:g.50495670T>C, NM_020456.4:c.437A>G, NM_020456.3:c.437A>G, NM_020456.2:c.437A>G, NM_001127482.3:c.320A>G, NM_001127482.2:c.320A>G, NM_001127482.1:c.320A>G, NR_023351.3:n.258A>G, NR_023351.2:n.419A>G, NR_023351.1:n.415A>G, XR_007063693.1:n.542A>G, XR_007063694.1:n.425A>G, NP_065189.1:p.Lys146Arg, NP_001120954.1:p.Lys107Arg

Select item 14298841039.

rs1429884103 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 13:49931023 (GRCh38)
13:50505159 (GRCh37)
Canonical SPDI:: NC_000013.11:49931022:G:T
Gene:: SPRYD7 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0002/1 (ALFA)
T=0.0002/1 (Estonian)
HGVS:: NC_000013.11:g.49931023G>T, NC_000013.10:g.50505159G>T, NM_020456.4:c.218C>A, NM_020456.3:c.218C>A, NM_020456.2:c.218C>A, XR_007063693.1:n.323C>A, NP_065189.1:p.Ser73Tyr

Select item 142737453310.

rs1427374533 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:49915112 (GRCh38)
13:50489248 (GRCh37)
Canonical SPDI:: NC_000013.11:49915111:G:A
Gene:: SPRYD7 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000026/7 (TOPMED)
HGVS:: NC_000013.11:g.49915112G>A, NC_000013.10:g.50489248G>A, NM_020456.4:c.542C>T, NM_020456.3:c.542C>T, NM_020456.2:c.542C>T, NM_001127482.3:c.425C>T, NM_001127482.2:c.425C>T, NM_001127482.1:c.425C>T, NR_023351.3:n.363C>T, NR_023351.2:n.524C>T, NR_023351.1:n.520C>T, XR_007063693.1:n.3080C>T, NP_065189.1:p.Thr181Met, NP_001120954.1:p.Thr142Met

Select item 141354928811.

rs1413549288 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 13:49927931 (GRCh38)
13:50502067 (GRCh37)
Canonical SPDI:: NC_000013.11:49927930:T:A
Gene:: SPRYD7 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000013.11:g.49927931T>A, NC_000013.10:g.50502067T>A, NM_020456.4:c.378A>T, NM_020456.3:c.378A>T, NM_020456.2:c.378A>T, NM_001127482.3:c.261A>T, NM_001127482.2:c.261A>T, NM_001127482.1:c.261A>T, XR_007063693.1:n.483A>T, XR_007063694.1:n.366A>T, NP_065189.1:p.Glu126Asp, NP_001120954.1:p.Glu87Asp

Select item 140574938112.

rs1405749381 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:49931051 (GRCh38)
13:50505187 (GRCh37)
Canonical SPDI:: NC_000013.11:49931050:T:C
Gene:: SPRYD7 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.49931051T>C, NC_000013.10:g.50505187T>C, NM_020456.4:c.190A>G, NM_020456.3:c.190A>G, NM_020456.2:c.190A>G, XR_007063693.1:n.295A>G, NP_065189.1:p.Lys64Glu

Select item 139012392413.

rs1390123924 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:49927924 (GRCh38)
13:50502060 (GRCh37)
Canonical SPDI:: NC_000013.11:49927923:C:T
Gene:: SPRYD7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.49927924C>T, NC_000013.10:g.50502060C>T, NM_020456.4:c.385G>A, NM_020456.3:c.385G>A, NM_020456.2:c.385G>A, NM_001127482.3:c.268G>A, NM_001127482.2:c.268G>A, NM_001127482.1:c.268G>A, XR_007063693.1:n.490G>A, XR_007063694.1:n.373G>A, NP_065189.1:p.Val129Met, NP_001120954.1:p.Val90Met

Select item 138952853214.

rs1389528532 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 13:49921562 (GRCh38)
13:50495698 (GRCh37)
Canonical SPDI:: NC_000013.11:49921561:C:A
Gene:: SPRYD7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.49921562C>A, NC_000013.10:g.50495698C>A, NM_020456.4:c.409G>T, NM_020456.3:c.409G>T, NM_020456.2:c.409G>T, NM_001127482.3:c.292G>T, NM_001127482.2:c.292G>T, NM_001127482.1:c.292G>T, NR_023351.3:n.230G>T, NR_023351.2:n.391G>T, NR_023351.1:n.387G>T, XR_007063693.1:n.514G>T, XR_007063694.1:n.397G>T, NP_065189.1:p.Val137Phe, NP_001120954.1:p.Val98Phe

Select item 138394459715.

rs1383944597 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 13:49936134 (GRCh38)
13:50510270 (GRCh37)
Canonical SPDI:: NC_000013.11:49936133:G:C
Gene:: SPRYD7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.49936134G>C, NC_000013.10:g.50510270G>C, NM_020456.4:c.102C>G, NM_020456.3:c.102C>G, NM_020456.2:c.102C>G, NM_001127482.3:c.102C>G, NM_001127482.2:c.102C>G, NM_001127482.1:c.102C>G, NR_023351.3:n.207C>G, NR_023351.2:n.368C>G, NR_023351.1:n.364C>G, XR_007063693.1:n.207C>G, XR_007063694.1:n.207C>G, NP_065189.1:p.His34Gln, NP_001120954.1:p.His34Gln

Select item 138388519016.

rs1383885190 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 13:49936191 (GRCh38)
13:50510327 (GRCh37)
Canonical SPDI:: NC_000013.11:49936190:C:G
Gene:: SPRYD7 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.49936191C>G, NC_000013.10:g.50510327C>G, NM_020456.4:c.45G>C, NM_020456.3:c.45G>C, NM_020456.2:c.45G>C, NM_001127482.3:c.45G>C, NM_001127482.2:c.45G>C, NM_001127482.1:c.45G>C, NR_023351.3:n.150G>C, NR_023351.2:n.311G>C, NR_023351.1:n.307G>C, XR_007063693.1:n.150G>C, XR_007063694.1:n.150G>C

Select item 138387457617.

rs1383874576 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:49936213 (GRCh38)
13:50510349 (GRCh37)
Canonical SPDI:: NC_000013.11:49936212:C:T
Gene:: SPRYD7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_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_000013.11:g.49936213C>T, NC_000013.10:g.50510349C>T, NM_020456.4:c.23G>A, NM_020456.3:c.23G>A, NM_020456.2:c.23G>A, NM_001127482.3:c.23G>A, NM_001127482.2:c.23G>A, NM_001127482.1:c.23G>A, NR_023351.3:n.128G>A, NR_023351.2:n.289G>A, NR_023351.1:n.285G>A, XR_007063693.1:n.128G>A, XR_007063694.1:n.128G>A, NP_065189.1:p.Cys8Tyr, NP_001120954.1:p.Cys8Tyr

Select item 137042611918.

rs1370426119 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:49931096 (GRCh38)
13:50505232 (GRCh37)
Canonical SPDI:: NC_000013.11:49931095:A:G
Gene:: SPRYD7 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.49931096A>G, NC_000013.10:g.50505232A>G, NM_020456.4:c.145T>C, NM_020456.3:c.145T>C, NM_020456.2:c.145T>C, XR_007063693.1:n.250T>C, NP_065189.1:p.Cys49Arg

Select item 136815772419.

rs1368157724 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 13:49921579 (GRCh38)
13:50495715 (GRCh37)
Canonical SPDI:: NC_000013.11:49921578:CCC:CC
Gene:: SPRYD7 (Varview)
Functional Consequence:: coding_sequence_variant,splice_acceptor_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.49921581del, NC_000013.10:g.50495717del

Select item 136734999420.

rs1367349994 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 13:49928059 (GRCh38)
13:50502195 (GRCh37)
Canonical SPDI:: NC_000013.11:49928058:G:C
Gene:: SPRYD7 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.49928059G>C, NC_000013.10:g.50502195G>C, NM_020456.4:c.250C>G, NM_020456.3:c.250C>G, NM_020456.2:c.250C>G, NM_001127482.3:c.133C>G, NM_001127482.2:c.133C>G, NM_001127482.1:c.133C>G, XR_007063693.1:n.355C>G, XR_007063694.1:n.238C>G, NP_065189.1:p.Gln84Glu, NP_001120954.1:p.Gln45Glu

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