SNP Links for Protein (Select 4505193) - SNP

Links from Protein

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Select item 14908037001.

rs1490803700 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:224189917 (GRCh38)
1:224377619 (GRCh37)
Canonical SPDI:: NC_000001.11:224189916:T:C
Gene:: DEGS1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
C=0.000248/4 (TOMMO)
HGVS:: NC_000001.11:g.224189917T>C, NC_000001.10:g.224377619T>C, NM_003676.4:c.423T>C, NM_003676.3:c.423T>C, XM_017002648.3:c.315T>C, XM_017002648.2:c.315T>C, XM_017002648.1:c.315T>C, NM_001321541.2:c.423T>C, NM_001321541.1:c.423T>C, NM_001321542.2:c.315T>C, NM_001321542.1:c.315T>C, NM_144780.1:c.423T>C

Select item 14906646332.

rs1490664633 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:224190199 (GRCh38)
1:224377901 (GRCh37)
Canonical SPDI:: NC_000001.11:224190198:G:C
Gene:: DEGS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.224190199G>C, NC_000001.10:g.224377901G>C, NM_003676.4:c.705G>C, NM_003676.3:c.705G>C, XM_017002648.3:c.597G>C, XM_017002648.2:c.597G>C, XM_017002648.1:c.597G>C, NM_001321541.2:c.705G>C, NM_001321541.1:c.705G>C, NM_001321542.2:c.597G>C, NM_001321542.1:c.597G>C, NM_144780.1:c.705G>C, NP_003667.1:p.Met235Ile, XP_016858137.1:p.Met199Ile, NP_001308470.1:p.Met235Ile, NP_001308471.1:p.Met199Ile

Select item 14837372043.

rs1483737204 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:224189650 (GRCh38)
1:224377352 (GRCh37)
Canonical SPDI:: NC_000001.11:224189649:C:T
Gene:: DEGS1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000001.11:g.224189650C>T, NC_000001.10:g.224377352C>T, NM_003676.4:c.156C>T, NM_003676.3:c.156C>T, XM_017002648.3:c.48C>T, XM_017002648.2:c.48C>T, XM_017002648.1:c.48C>T, NM_001321541.2:c.156C>T, NM_001321541.1:c.156C>T, NM_001321542.2:c.48C>T, NM_001321542.1:c.48C>T, NM_144780.1:c.156C>T

Select item 14809835154.

rs1480983515 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 1:224189925 (GRCh38)
1:224377627 (GRCh37)
Canonical SPDI:: NC_000001.11:224189924:TT:T
Gene:: DEGS1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.224189926del, NC_000001.10:g.224377628del, NM_003676.4:c.432del, NM_003676.3:c.432del, XM_017002648.3:c.324del, XM_017002648.2:c.324del, XM_017002648.1:c.324del, NM_001321541.2:c.432del, NM_001321541.1:c.432del, NM_001321542.2:c.324del, NM_001321542.1:c.324del, NM_144780.1:c.432del, NP_003667.1:p.Pro145fs, XP_016858137.1:p.Pro109fs, NP_001308470.1:p.Pro145fs, NP_001308471.1:p.Pro109fs

Select item 14804070435.

rs1480407043 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 1:224183374 (GRCh38)
1:224371076 (GRCh37)
Canonical SPDI:: NC_000001.11:224183373:T:A,NC_000001.11:224183373:T:C,NC_000001.11:224183373:T:G
Gene:: DEGS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.224183374T>A, NC_000001.11:g.224183374T>C, NC_000001.11:g.224183374T>G, NC_000001.10:g.224371076T>A, NC_000001.10:g.224371076T>C, NC_000001.10:g.224371076T>G, NM_003676.4:c.38T>A, NM_003676.4:c.38T>C, NM_003676.4:c.38T>G, NM_003676.3:c.38T>A, NM_003676.3:c.38T>C, NM_003676.3:c.38T>G, NM_001321541.2:c.38T>A, NM_001321541.2:c.38T>C, NM_001321541.2:c.38T>G, NM_001321541.1:c.38T>A, NM_001321541.1:c.38T>C, NM_001321541.1:c.38T>G, NM_144780.1:c.38T>A, NM_144780.1:c.38T>C, NM_144780.1:c.38T>G, NP_003667.1:p.Val13Asp, NP_003667.1:p.Val13Ala, NP_003667.1:p.Val13Gly, NP_001308470.1:p.Val13Asp, NP_001308470.1:p.Val13Ala, NP_001308470.1:p.Val13Gly

Select item 14766269376.

rs1476626937 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:224190114 (GRCh38)
1:224377816 (GRCh37)
Canonical SPDI:: NC_000001.11:224190113:A:C
Gene:: DEGS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.224190114A>C, NC_000001.10:g.224377816A>C, NM_003676.4:c.620A>C, NM_003676.3:c.620A>C, XM_017002648.3:c.512A>C, XM_017002648.2:c.512A>C, XM_017002648.1:c.512A>C, NM_001321541.2:c.620A>C, NM_001321541.1:c.620A>C, NM_001321542.2:c.512A>C, NM_001321542.1:c.512A>C, NM_144780.1:c.620A>C, NP_003667.1:p.Lys207Thr, XP_016858137.1:p.Lys171Thr, NP_001308470.1:p.Lys207Thr, NP_001308471.1:p.Lys171Thr

Select item 14749792357.

rs1474979235 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:224189981 (GRCh38)
1:224377683 (GRCh37)
Canonical SPDI:: NC_000001.11:224189980:G:C
Gene:: DEGS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.224189981G>C, NC_000001.10:g.224377683G>C, NM_003676.4:c.487G>C, NM_003676.3:c.487G>C, XM_017002648.3:c.379G>C, XM_017002648.2:c.379G>C, XM_017002648.1:c.379G>C, NM_001321541.2:c.487G>C, NM_001321541.1:c.487G>C, NM_001321542.2:c.379G>C, NM_001321542.1:c.379G>C, NM_144780.1:c.487G>C, NP_003667.1:p.Val163Leu, XP_016858137.1:p.Val127Leu, NP_001308470.1:p.Val163Leu, NP_001308471.1:p.Val127Leu

Select item 14744546248.

rs1474454624 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:224192472 (GRCh38)
1:224380174 (GRCh37)
Canonical SPDI:: NC_000001.11:224192471:G:A
Gene:: DEGS1 (Varview)
Functional Consequence:: synonymous_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000056/2 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.224192472G>A, NC_000001.10:g.224380174G>A, NM_003676.4:c.966G>A, NM_003676.3:c.966G>A, XM_017002648.3:c.858G>A, XM_017002648.2:c.858G>A, XM_017002648.1:c.858G>A, NM_001321541.2:c.*164G>A, NM_001321541.1:c.*164G>A, NM_001321542.2:c.858G>A, NM_001321542.1:c.858G>A, NM_144780.1:c.966G>A

Select item 14666168369.

rs1466616836 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:224190182 (GRCh38)
1:224377884 (GRCh37)
Canonical SPDI:: NC_000001.11:224190181:A:G
Gene:: DEGS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.224190182A>G, NC_000001.10:g.224377884A>G, NM_003676.4:c.688A>G, NM_003676.3:c.688A>G, XM_017002648.3:c.580A>G, XM_017002648.2:c.580A>G, XM_017002648.1:c.580A>G, NM_001321541.2:c.688A>G, NM_001321541.1:c.688A>G, NM_001321542.2:c.580A>G, NM_001321542.1:c.580A>G, NM_144780.1:c.688A>G, NP_003667.1:p.Ile230Val, XP_016858137.1:p.Ile194Val, NP_001308470.1:p.Ile230Val, NP_001308471.1:p.Ile194Val

Select item 146151674810.

rs1461516748 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:224192448 (GRCh38)
1:224380150 (GRCh37)
Canonical SPDI:: NC_000001.11:224192447:G:A
Gene:: DEGS1 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.224192448G>A, NC_000001.10:g.224380150G>A, NM_003676.4:c.942G>A, NM_003676.3:c.942G>A, XM_017002648.3:c.834G>A, XM_017002648.2:c.834G>A, XM_017002648.1:c.834G>A, NM_001321541.2:c.*140G>A, NM_001321541.1:c.*140G>A, NM_001321542.2:c.834G>A, NM_001321542.1:c.834G>A, NM_144780.1:c.942G>A

Select item 146116454111.

rs1461164541 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:224190086 (GRCh38)
1:224377788 (GRCh37)
Canonical SPDI:: NC_000001.11:224190085:A:G
Gene:: DEGS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.224190086A>G, NC_000001.10:g.224377788A>G, NM_003676.4:c.592A>G, NM_003676.3:c.592A>G, XM_017002648.3:c.484A>G, XM_017002648.2:c.484A>G, XM_017002648.1:c.484A>G, NM_001321541.2:c.592A>G, NM_001321541.1:c.592A>G, NM_001321542.2:c.484A>G, NM_001321542.1:c.484A>G, NM_144780.1:c.592A>G, NP_003667.1:p.Ile198Val, XP_016858137.1:p.Ile162Val, NP_001308470.1:p.Ile198Val, NP_001308471.1:p.Ile162Val

Select item 146017755412.

rs1460177554 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:224190081 (GRCh38)
1:224377783 (GRCh37)
Canonical SPDI:: NC_000001.11:224190080:T:C
Gene:: DEGS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000001.11:g.224190081T>C, NC_000001.10:g.224377783T>C, NM_003676.4:c.587T>C, NM_003676.3:c.587T>C, XM_017002648.3:c.479T>C, XM_017002648.2:c.479T>C, XM_017002648.1:c.479T>C, NM_001321541.2:c.587T>C, NM_001321541.1:c.587T>C, NM_001321542.2:c.479T>C, NM_001321542.1:c.479T>C, NM_144780.1:c.587T>C, NP_003667.1:p.Phe196Ser, XP_016858137.1:p.Phe160Ser, NP_001308470.1:p.Phe196Ser, NP_001308471.1:p.Phe160Ser

Select item 145346922113.

rs1453469221 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:224189884 (GRCh38)
1:224377586 (GRCh37)
Canonical SPDI:: NC_000001.11:224189883:T:A
Gene:: DEGS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.224189884T>A, NC_000001.10:g.224377586T>A, NM_003676.4:c.390T>A, NM_003676.3:c.390T>A, XM_017002648.3:c.282T>A, XM_017002648.2:c.282T>A, XM_017002648.1:c.282T>A, NM_001321541.2:c.390T>A, NM_001321541.1:c.390T>A, NM_001321542.2:c.282T>A, NM_001321542.1:c.282T>A, NM_144780.1:c.390T>A, NP_003667.1:p.Asp130Glu, XP_016858137.1:p.Asp94Glu, NP_001308470.1:p.Asp130Glu, NP_001308471.1:p.Asp94Glu

Select item 145254504214.

rs1452545042 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:224183366 (GRCh38)
1:224371068 (GRCh37)
Canonical SPDI:: NC_000001.11:224183365:C:T
Gene:: DEGS1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,synonymous_variant
HGVS:: NC_000001.11:g.224183366C>T, NC_000001.10:g.224371068C>T, NM_003676.4:c.30C>T, NM_003676.3:c.30C>T, NM_001321541.2:c.30C>T, NM_001321541.1:c.30C>T, NM_144780.1:c.30C>T

Select item 145092589215.

rs1450925892 [Homo sapiens]

Variant type:: DEL
Alleles:: TAT>- [Show Flanks]
Chromosome:: 1:224192398 (GRCh38)
1:224380100 (GRCh37)
Canonical SPDI:: NC_000001.11:224192397:TAT:
Gene:: DEGS1 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.224192398_224192400del, NC_000001.10:g.224380100_224380102del, NM_003676.4:c.892_894del, NM_003676.3:c.892_894del, XM_017002648.3:c.784_786del, XM_017002648.2:c.784_786del, XM_017002648.1:c.784_786del, NM_001321541.2:c.*90_*92del, NM_001321541.1:c.*90_*92del, NM_001321542.2:c.784_786del, NM_001321542.1:c.784_786del, NM_144780.1:c.892_894del, NP_003667.1:p.Tyr298del, XP_016858137.1:p.Tyr262del, NP_001308471.1:p.Tyr262del

Select item 145005776916.

rs1450057769 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:224189649 (GRCh38)
1:224377351 (GRCh37)
Canonical SPDI:: NC_000001.11:224189648:T:C
Gene:: DEGS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000001.11:g.224189649T>C, NC_000001.10:g.224377351T>C, NM_003676.4:c.155T>C, NM_003676.3:c.155T>C, XM_017002648.3:c.47T>C, XM_017002648.2:c.47T>C, XM_017002648.1:c.47T>C, NM_001321541.2:c.155T>C, NM_001321541.1:c.155T>C, NM_001321542.2:c.47T>C, NM_001321542.1:c.47T>C, NM_144780.1:c.155T>C, NP_003667.1:p.Leu52Pro, XP_016858137.1:p.Leu16Pro, NP_001308470.1:p.Leu52Pro, NP_001308471.1:p.Leu16Pro

Select item 144907241217.

rs1449072412 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:224190183 (GRCh38)
1:224377885 (GRCh37)
Canonical SPDI:: NC_000001.11:224190182:T:C
Gene:: DEGS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000001.11:g.224190183T>C, NC_000001.10:g.224377885T>C, NM_003676.4:c.689T>C, NM_003676.3:c.689T>C, XM_017002648.3:c.581T>C, XM_017002648.2:c.581T>C, XM_017002648.1:c.581T>C, NM_001321541.2:c.689T>C, NM_001321541.1:c.689T>C, NM_001321542.2:c.581T>C, NM_001321542.1:c.581T>C, NM_144780.1:c.689T>C, NP_003667.1:p.Ile230Thr, XP_016858137.1:p.Ile194Thr, NP_001308470.1:p.Ile230Thr, NP_001308471.1:p.Ile194Thr

Select item 144374884518.

rs1443748845 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:224189672 (GRCh38)
1:224377374 (GRCh37)
Canonical SPDI:: NC_000001.11:224189671:A:G
Gene:: DEGS1 (Varview)
Functional Consequence:: coding_sequence_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)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.224189672A>G, NC_000001.10:g.224377374A>G, NM_003676.4:c.178A>G, NM_003676.3:c.178A>G, XM_017002648.3:c.70A>G, XM_017002648.2:c.70A>G, XM_017002648.1:c.70A>G, NM_001321541.2:c.178A>G, NM_001321541.1:c.178A>G, NM_001321542.2:c.70A>G, NM_001321542.1:c.70A>G, NM_144780.1:c.178A>G, NP_003667.1:p.Ile60Val, XP_016858137.1:p.Ile24Val, NP_001308470.1:p.Ile60Val, NP_001308471.1:p.Ile24Val

Select item 143622078419.

rs1436220784 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:224189705 (GRCh38)
1:224377407 (GRCh37)
Canonical SPDI:: NC_000001.11:224189704:T:C
Gene:: DEGS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.224189705T>C, NC_000001.10:g.224377407T>C, NM_003676.4:c.211T>C, NM_003676.3:c.211T>C, XM_017002648.3:c.103T>C, XM_017002648.2:c.103T>C, XM_017002648.1:c.103T>C, NM_001321541.2:c.211T>C, NM_001321541.1:c.211T>C, NM_001321542.2:c.103T>C, NM_001321542.1:c.103T>C, NM_144780.1:c.211T>C, NP_003667.1:p.Phe71Leu, XP_016858137.1:p.Phe35Leu, NP_001308470.1:p.Phe71Leu, NP_001308471.1:p.Phe35Leu

Select item 142660330220.

rs1426603302 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:224189768 (GRCh38)
1:224377470 (GRCh37)
Canonical SPDI:: NC_000001.11:224189767:G:A
Gene:: DEGS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.224189768G>A, NC_000001.10:g.224377470G>A, NM_003676.4:c.274G>A, NM_003676.3:c.274G>A, XM_017002648.3:c.166G>A, XM_017002648.2:c.166G>A, XM_017002648.1:c.166G>A, NM_001321541.2:c.274G>A, NM_001321541.1:c.274G>A, NM_001321542.2:c.166G>A, NM_001321542.1:c.166G>A, NM_144780.1:c.274G>A, NP_003667.1:p.Ala92Thr, XP_016858137.1:p.Ala56Thr, NP_001308470.1:p.Ala92Thr, NP_001308471.1:p.Ala56Thr

dbSNP

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