SNP Links for Protein (Select 4504079) - SNP

Links from Protein

Items: 1 to 20 of 538

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Select item 14838905511.

rs1483890551 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCT>- [Show Flanks]
Chromosome:: 8:144083991 (GRCh38)
8:145138894 (GRCh37)
Canonical SPDI:: NC_000008.11:144083988:CTTCT:CT
Gene:: GPAA1 (Varview), LOC124902038 (Varview)
Functional Consequence:: inframe_deletion,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.144083991_144083993del, NC_000008.10:g.145138894_145138896del, NW_003315923.1:g.422638_422640del, NM_003801.4:c.567_569del, NM_003801.3:c.567_569del, NP_003792.1:p.Leu190del

Select item 14833023302.

rs1483302330 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 8:144084275 (GRCh38)
8:145139178 (GRCh37)
Canonical SPDI:: NC_000008.11:144084274:A:G,NC_000008.11:144084274:A:T
Gene:: GPAA1 (Varview), LOC124902038 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
G=0.000004/1 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.144084275A>G, NC_000008.11:g.144084275A>T, NC_000008.10:g.145139178A>G, NC_000008.10:g.145139178A>T, NW_003315923.1:g.422922A>G, NW_003315923.1:g.422922A>T, NM_003801.4:c.758A>G, NM_003801.4:c.758A>T, NM_003801.3:c.758A>G, NM_003801.3:c.758A>T, NP_003792.1:p.Asn253Ser, NP_003792.1:p.Asn253Ile

Select item 14808468743.

rs1480846874 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 8:144083269 (GRCh38)
8:145138172 (GRCh37)
Canonical SPDI:: NC_000008.11:144083268:G:
Gene:: GPAA1 (Varview), LOC124902038 (Varview)
Functional Consequence:: frameshift_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.144083269del, NC_000008.10:g.145138172del, NW_003315923.1:g.421916del, NM_003801.4:c.220del, NM_003801.3:c.220del, NP_003792.1:p.Ala74fs

Select item 14802070324.

rs1480207032 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:144084193 (GRCh38)
8:145139096 (GRCh37)
Canonical SPDI:: NC_000008.11:144084192:G:C
Gene:: GPAA1 (Varview), LOC124902038 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000043/1 (ALFA)
C=0.000008/2 (TOPMED)
C=0.00002/5 (GnomAD_exomes)
HGVS:: NC_000008.11:g.144084193G>C, NC_000008.10:g.145139096G>C, NW_003315923.1:g.422840G>C, NM_003801.4:c.676G>C, NM_003801.3:c.676G>C, NP_003792.1:p.Glu226Gln

Select item 14736986485.

rs1473698648 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 8:144084474 (GRCh38)
8:145139377 (GRCh37)
Canonical SPDI:: NC_000008.11:144084473:T:A
Gene:: GPAA1 (Varview), LOC124902038 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.144084474T>A, NC_000008.10:g.145139377T>A, NW_003315923.1:g.423121T>A, NM_003801.4:c.875T>A, NM_003801.3:c.875T>A, NP_003792.1:p.Leu292His

Select item 14731869746.

rs1473186974 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:144084823 (GRCh38)
8:145139726 (GRCh37)
Canonical SPDI:: NC_000008.11:144084822:T:G
Gene:: GPAA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.144084823T>G, NC_000008.10:g.145139726T>G, NW_003315923.1:g.423470T>G, NM_003801.4:c.1112T>G, NM_003801.3:c.1112T>G, NP_003792.1:p.Ile371Ser

Select item 14709564927.

rs1470956492 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:144082793 (GRCh38)
8:145137696 (GRCh37)
Canonical SPDI:: NC_000008.11:144082792:C:T
Gene:: GPAA1 (Varview), LOC124902038 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000029/4 (GnomAD)
T=0.000054/4 (GnomAD_exomes)
HGVS:: NC_000008.11:g.144082793C>T, NC_000008.10:g.145137696C>T, NW_003315923.1:g.421440C>T, NM_003801.4:c.63C>T, NM_003801.3:c.63C>T

Select item 14656030438.

rs1465603043 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:144085385 (GRCh38)
8:145140288 (GRCh37)
Canonical SPDI:: NC_000008.11:144085384:A:C
Gene:: GPAA1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000008.11:g.144085385A>C, NC_000008.10:g.145140288A>C, NW_003315923.1:g.424032A>C, NM_003801.4:c.1357A>C, NM_003801.3:c.1357A>C, NP_003792.1:p.Thr453Pro

Select item 14647804159.

rs1464780415 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:144086101 (GRCh38)
8:145141004 (GRCh37)
Canonical SPDI:: NC_000008.11:144086100:C:T
Gene:: GPAA1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.144086101C>T, NC_000008.10:g.145141004C>T, NW_003315923.1:g.424748C>T, NM_003801.4:c.1842C>T, NM_003801.3:c.1842C>T

Select item 145430047010.

rs1454300470 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 8:144082788 (GRCh38)
8:145137691 (GRCh37)
Canonical SPDI:: NC_000008.11:144082787:C:G,NC_000008.11:144082787:C:T
Gene:: GPAA1 (Varview), LOC124902038 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.144082788C>G, NC_000008.11:g.144082788C>T, NC_000008.10:g.145137691C>G, NC_000008.10:g.145137691C>T, NW_003315923.1:g.421435C>G, NW_003315923.1:g.421435C>T, NM_003801.4:c.58C>G, NM_003801.4:c.58C>T, NM_003801.3:c.58C>G, NM_003801.3:c.58C>T, NP_003792.1:p.Leu20Val, NP_003792.1:p.Leu20Phe

Select item 145316546611.

rs1453165466 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:144083232 (GRCh38)
8:145138135 (GRCh37)
Canonical SPDI:: NC_000008.11:144083231:G:T
Gene:: GPAA1 (Varview), LOC124902038 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.144083232G>T, NC_000008.10:g.145138135G>T, NW_003315923.1:g.421879G>T, NM_003801.4:c.183G>T, NM_003801.3:c.183G>T, NP_003792.1:p.Glu61Asp

Select item 145274158812.

rs1452741588 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:144084184 (GRCh38)
8:145139087 (GRCh37)
Canonical SPDI:: NC_000008.11:144084183:G:A
Gene:: GPAA1 (Varview), LOC124902038 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000026/7 (TOPMED)
A=0.000029/4 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000008.11:g.144084184G>A, NC_000008.10:g.145139087G>A, NW_003315923.1:g.422831G>A, NM_003801.4:c.667G>A, NM_003801.3:c.667G>A, NP_003792.1:p.Val223Met

Select item 145162739813.

rs1451627398 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 8:144085930 (GRCh38)
8:145140833 (GRCh37)
Canonical SPDI:: NC_000008.11:144085929:C:A,NC_000008.11:144085929:C:G,NC_000008.11:144085929:C:T
Gene:: GPAA1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.144085930C>A, NC_000008.11:g.144085930C>G, NC_000008.11:g.144085930C>T, NC_000008.10:g.145140833C>A, NC_000008.10:g.145140833C>G, NC_000008.10:g.145140833C>T, NW_003315923.1:g.424577C>A, NW_003315923.1:g.424577C>G, NW_003315923.1:g.424577C>T, NM_003801.4:c.1671C>A, NM_003801.4:c.1671C>G, NM_003801.4:c.1671C>T, NM_003801.3:c.1671C>A, NM_003801.3:c.1671C>G, NM_003801.3:c.1671C>T

Select item 144888805214.

rs1448888052 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:144084009 (GRCh38)
8:145138912 (GRCh37)
Canonical SPDI:: NC_000008.11:144084008:G:A
Gene:: GPAA1 (Varview), LOC124902038 (Varview)
Functional Consequence:: stop_gained,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.144084009G>A, NC_000008.10:g.145138912G>A, NW_003315923.1:g.422656G>A, NM_003801.4:c.585G>A, NM_003801.3:c.585G>A, NP_003792.1:p.Trp195Ter

Select item 144668488215.

rs1446684882 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:144085690 (GRCh38)
8:145140593 (GRCh37)
Canonical SPDI:: NC_000008.11:144085689:G:C
Gene:: GPAA1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000057/2 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.144085690G>C, NC_000008.10:g.145140593G>C, NW_003315923.1:g.424337G>C, NM_003801.4:c.1569G>C, NM_003801.3:c.1569G>C

Select item 144555259316.

rs1445552593 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 8:144083203 (GRCh38)
8:145138106 (GRCh37)
Canonical SPDI:: NC_000008.11:144083202:G:A,NC_000008.11:144083202:G:C
Gene:: GPAA1 (Varview), LOC124902038 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000043/1 (ALFA)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000008.11:g.144083203G>A, NC_000008.11:g.144083203G>C, NC_000008.10:g.145138106G>A, NC_000008.10:g.145138106G>C, NW_003315923.1:g.421850G>A, NW_003315923.1:g.421850G>C, NM_003801.4:c.154G>A, NM_003801.4:c.154G>C, NM_003801.3:c.154G>A, NM_003801.3:c.154G>C, NP_003792.1:p.Glu52Lys, NP_003792.1:p.Glu52Gln

Select item 144480643617.

rs1444806436 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:144082775 (GRCh38)
8:145137678 (GRCh37)
Canonical SPDI:: NC_000008.11:144082774:C:T
Gene:: GPAA1 (Varview), LOC124902038 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000013/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.144082775C>T, NC_000008.10:g.145137678C>T, NW_003315923.1:g.421422C>T, NM_003801.4:c.45C>T, NM_003801.3:c.45C>T

Select item 144200840418.

rs1442008404 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:144085630 (GRCh38)
8:145140533 (GRCh37)
Canonical SPDI:: NC_000008.11:144085629:G:C
Gene:: GPAA1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.144085630G>C, NC_000008.10:g.145140533G>C, NW_003315923.1:g.424277G>C, NM_003801.4:c.1509G>C, NM_003801.3:c.1509G>C

Select item 143179162119.

rs1431791621 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:144085997 (GRCh38)
8:145140900 (GRCh37)
Canonical SPDI:: NC_000008.11:144085996:C:G
Gene:: GPAA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.144085997C>G, NC_000008.10:g.145140900C>G, NW_003315923.1:g.424644C>G, NM_003801.4:c.1738C>G, NM_003801.3:c.1738C>G, NP_003792.1:p.Leu580Val

Select item 142729325920.

rs1427293259 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 8:144085478 (GRCh38)
8:145140381 (GRCh37)
Canonical SPDI:: NC_000008.11:144085477:C:A,NC_000008.11:144085477:C:T
Gene:: GPAA1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000017/4 (GnomAD_exomes)
T=0.000071/1 (TOMMO)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000008.11:g.144085478C>A, NC_000008.11:g.144085478C>T, NC_000008.10:g.145140381C>A, NC_000008.10:g.145140381C>T, NW_003315923.1:g.424125C>A, NW_003315923.1:g.424125C>T, NM_003801.4:c.1450C>A, NM_003801.4:c.1450C>T, NM_003801.3:c.1450C>A, NM_003801.3:c.1450C>T, NP_003792.1:p.Arg484Trp

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