SNP Links for Protein (Select 4758378) - SNP

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Links from Protein

Items: 1 to 20 of 255

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Select item 14906365321.

rs1490636532 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: X:15358064 (GRCh38)
X:15376186 (GRCh37)
Canonical SPDI:: NC_000023.11:15358063:C:A,NC_000023.11:15358063:C:T
Gene:: VEGFD (Varview), PIR-FIGF (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=0.000015/4 (TOPMED)
T=0.000029/3 (GnomAD)
HGVS:: NC_000023.11:g.15358064C>A, NC_000023.11:g.15358064C>T, NC_000023.10:g.15376186C>A, NC_000023.10:g.15376186C>T, NG_012509.1:g.31392G>T, NG_012509.1:g.31392G>A, NM_004469.5:c.431G>T, NM_004469.5:c.431G>A, NM_004469.4:c.431G>T, NM_004469.4:c.431G>A, NR_037859.2:n.1406G>T, NR_037859.2:n.1406G>A, NP_004460.1:p.Gly144Val, NP_004460.1:p.Gly144Asp

Select item 14858937962.

rs1485893796 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:15353107 (GRCh38)
X:15371229 (GRCh37)
Canonical SPDI:: NC_000023.11:15353106:A:G
Gene:: VEGFD (Varview), PIR-FIGF (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.15353107A>G, NC_000023.10:g.15371229A>G, NG_012509.1:g.36349T>C, NM_004469.5:c.703T>C, NM_004469.4:c.703T>C, NR_037859.2:n.1678T>C, NP_004460.1:p.Cys235Arg

Select item 14854852813.

rs1485485281 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:15358089 (GRCh38)
X:15376211 (GRCh37)
Canonical SPDI:: NC_000023.11:15358088:A:T
Gene:: VEGFD (Varview), PIR-FIGF (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.15358089A>T, NC_000023.10:g.15376211A>T, NG_012509.1:g.31367T>A, NM_004469.5:c.406T>A, NM_004469.4:c.406T>A, NR_037859.2:n.1381T>A, NP_004460.1:p.Cys136Ser

Select item 14854724264.

rs1485472426 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:15353075 (GRCh38)
X:15371197 (GRCh37)
Canonical SPDI:: NC_000023.11:15353074:T:C
Gene:: VEGFD (Varview), PIR-FIGF (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.15353075T>C, NC_000023.10:g.15371197T>C, NG_012509.1:g.36381A>G, NM_004469.5:c.735A>G, NM_004469.4:c.735A>G, NR_037859.2:n.1710A>G

Select item 14852583675.

rs1485258367 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:15383932 (GRCh38)
X:15402054 (GRCh37)
Canonical SPDI:: NC_000023.11:15383931:C:A
Gene:: VEGFD (Varview), PIR-FIGF (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.15383932C>A, NC_000023.10:g.15402054C>A, NG_012549.1:g.114411G>T, NG_012509.1:g.5524G>T, NM_004469.5:c.15G>T, NM_004469.4:c.15G>T, NP_004460.1:p.Trp5Cys

Select item 14803596966.

rs1480359696 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:15355241 (GRCh38)
X:15373363 (GRCh37)
Canonical SPDI:: NC_000023.11:15355240:C:T
Gene:: VEGFD (Varview), PIR-FIGF (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)
T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.15355241C>T, NC_000023.10:g.15373363C>T, NG_012509.1:g.34215G>A, NM_004469.5:c.550G>A, NM_004469.4:c.550G>A, NR_037859.2:n.1525G>A, NP_004460.1:p.Ala184Thr

Select item 14705503037.

rs1470550303 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:15347173 (GRCh38)
X:15365295 (GRCh37)
Canonical SPDI:: NC_000023.11:15347172:T:G
Gene:: VEGFD (Varview), PIR-FIGF (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.15347173T>G, NC_000023.10:g.15365295T>G, NG_012509.1:g.42283A>C, NM_004469.5:c.929A>C, NM_004469.4:c.929A>C, NR_037859.2:n.1904A>C, NP_004460.1:p.Asp310Ala

Select item 14704558078.

rs1470455807 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:15355265 (GRCh38)
X:15373387 (GRCh37)
Canonical SPDI:: NC_000023.11:15355264:G:A
Gene:: VEGFD (Varview), PIR-FIGF (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=0.000011/3 (TOPMED)
A=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.15355265G>A, NC_000023.10:g.15373387G>A, NG_012509.1:g.34191C>T, NM_004469.5:c.526C>T, NM_004469.4:c.526C>T, NR_037859.2:n.1501C>T, NP_004460.1:p.Pro176Ser

Select item 14655979029.

rs1465597902 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:15355155 (GRCh38)
X:15373277 (GRCh37)
Canonical SPDI:: NC_000023.11:15355154:T:G
Gene:: VEGFD (Varview), PIR-FIGF (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000023.11:g.15355155T>G, NC_000023.10:g.15373277T>G, NG_012509.1:g.34301A>C, NM_004469.5:c.636A>C, NM_004469.4:c.636A>C, NR_037859.2:n.1611A>C, NP_004460.1:p.Glu212Asp

Select item 146248335510.

rs1462483355 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:15355218 (GRCh38)
X:15373340 (GRCh37)
Canonical SPDI:: NC_000023.11:15355217:G:A
Gene:: VEGFD (Varview), PIR-FIGF (Varview)
Functional Consequence:: 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=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.15355218G>A, NC_000023.10:g.15373340G>A, NG_012509.1:g.34238C>T, NM_004469.5:c.573C>T, NM_004469.4:c.573C>T, NR_037859.2:n.1548C>T

Select item 146017059411.

rs1460170594 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:15363139 (GRCh38)
X:15381261 (GRCh37)
Canonical SPDI:: NC_000023.11:15363138:C:T
Gene:: VEGFD (Varview), PIR-FIGF (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0./0 (SGDP_PRJ)
T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.15363139C>T, NC_000023.10:g.15381261C>T, NG_012509.1:g.26317G>A, NM_004469.5:c.271G>A, NM_004469.4:c.271G>A, NR_037859.2:n.1246G>A, NP_004460.1:p.Ala91Thr

Select item 146008604612.

rs1460086046 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:15363129 (GRCh38)
X:15381251 (GRCh37)
Canonical SPDI:: NC_000023.11:15363128:T:C
Gene:: VEGFD (Varview), PIR-FIGF (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.15363129T>C, NC_000023.10:g.15381251T>C, NG_012509.1:g.26327A>G, NM_004469.5:c.281A>G, NM_004469.4:c.281A>G, NR_037859.2:n.1256A>G, NP_004460.1:p.Tyr94Cys

Select item 145749888813.

rs1457498888 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: X:15347189 (GRCh38)
X:15365311 (GRCh37)
Canonical SPDI:: NC_000023.11:15347188:T:A,NC_000023.11:15347188:T:C
Gene:: VEGFD (Varview), PIR-FIGF (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,stop_gained,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000006/1 (GnomAD_exomes)
T=0.5/1 (SGDP_PRJ)
HGVS:: NC_000023.11:g.15347189T>A, NC_000023.11:g.15347189T>C, NC_000023.10:g.15365311T>A, NC_000023.10:g.15365311T>C, NG_012509.1:g.42267A>T, NG_012509.1:g.42267A>G, NM_004469.5:c.913A>T, NM_004469.5:c.913A>G, NM_004469.4:c.913A>T, NM_004469.4:c.913A>G, NR_037859.2:n.1888A>T, NR_037859.2:n.1888A>G, NP_004460.1:p.Lys305Ter, NP_004460.1:p.Lys305Glu

Select item 145605428414.

rs1456054284 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:15383928 (GRCh38)
X:15402050 (GRCh37)
Canonical SPDI:: NC_000023.11:15383927:C:T
Gene:: VEGFD (Varview), PIR-FIGF (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.15383928C>T, NC_000023.10:g.15402050C>T, NG_012549.1:g.114415G>A, NG_012509.1:g.5528G>A, NM_004469.5:c.19G>A, NM_004469.4:c.19G>A, NP_004460.1:p.Val7Met

Select item 145302883815.

rs1453028838 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: X:15353153 (GRCh38)
X:15371275 (GRCh37)
Canonical SPDI:: NC_000023.11:15353152:C:
Gene:: VEGFD (Varview), PIR-FIGF (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.15353153del, NC_000023.10:g.15371275del, NG_012509.1:g.36303del, NM_004469.5:c.657del, NM_004469.4:c.657del, NR_037859.2:n.1632del, NP_004460.1:p.Lys220fs

Select item 145059829016.

rs1450598290 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:15358186 (GRCh38)
X:15376308 (GRCh37)
Canonical SPDI:: NC_000023.11:15358185:A:T
Gene:: VEGFD (Varview), PIR-FIGF (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)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.15358186A>T, NC_000023.10:g.15376308A>T, NG_012509.1:g.31270T>A, NM_004469.5:c.309T>A, NM_004469.4:c.309T>A, NR_037859.2:n.1284T>A, NP_004460.1:p.Asp103Glu

Select item 144866784317.

rs1448667843 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:15358147 (GRCh38)
X:15376269 (GRCh37)
Canonical SPDI:: NC_000023.11:15358146:C:T
Gene:: VEGFD (Varview), PIR-FIGF (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000094/1 (ALFA)
T=0.00001/1 (GnomAD)
T=0.000011/3 (TOPMED)
T=0.00009/1 (TOMMO)
HGVS:: NC_000023.11:g.15358147C>T, NC_000023.10:g.15376269C>T, NG_012509.1:g.31309G>A, NM_004469.5:c.348G>A, NM_004469.4:c.348G>A, NR_037859.2:n.1323G>A

Select item 143976877818.

rs1439768778 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:15355286 (GRCh38)
X:15373408 (GRCh37)
Canonical SPDI:: NC_000023.11:15355285:A:G
Gene:: VEGFD (Varview), PIR-FIGF (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000006/1 (GnomAD_exomes)
G=0.000023/6 (TOPMED)
HGVS:: NC_000023.11:g.15355286A>G, NC_000023.10:g.15373408A>G, NG_012509.1:g.34170T>C, NM_004469.5:c.505T>C, NM_004469.4:c.505T>C, NR_037859.2:n.1480T>C, NP_004460.1:p.Ser169Pro

Select item 143851085719.

rs1438510857 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:15355169 (GRCh38)
X:15373291 (GRCh37)
Canonical SPDI:: NC_000023.11:15355168:G:A
Gene:: VEGFD (Varview), PIR-FIGF (Varview)
Functional Consequence:: non_coding_transcript_variant,stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.15355169G>A, NC_000023.10:g.15373291G>A, NG_012509.1:g.34287C>T, NM_004469.5:c.622C>T, NM_004469.4:c.622C>T, NR_037859.2:n.1597C>T, NP_004460.1:p.Gln208Ter

Select item 143669393720.

rs1436693937 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:15383868 (GRCh38)
X:15401990 (GRCh37)
Canonical SPDI:: NC_000023.11:15383867:C:G
Gene:: VEGFD (Varview), PIR-FIGF (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.15383868C>G, NC_000023.10:g.15401990C>G, NG_012549.1:g.114475G>C, NG_012509.1:g.5588G>C, NM_004469.5:c.79G>C, NM_004469.4:c.79G>C, NP_004460.1:p.Gly27Arg

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