SNP Links for Protein (Select 122937285) - SNP

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Links from Protein

Items: 1 to 20 of 445

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Select item 14892175071.

rs1489217507 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:39771177 (GRCh38)
21:41143104 (GRCh37)
Canonical SPDI:: NC_000021.9:39771176:C:T
Gene:: IGSF5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.39771177C>T, NC_000021.8:g.41143104C>T, NM_001080444.2:c.680C>T, NM_001080444.1:c.680C>T, XM_047440699.1:c.950C>T, NP_001073913.1:p.Ser227Phe, XP_047296655.1:p.Ser317Phe

Select item 14836118412.

rs1483611841 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:39771035 (GRCh38)
21:41142962 (GRCh37)
Canonical SPDI:: NC_000021.9:39771034:C:T
Gene:: IGSF5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.39771035C>T, NC_000021.8:g.41142962C>T, NM_001080444.2:c.538C>T, NM_001080444.1:c.538C>T, XM_047440699.1:c.808C>T, NP_001073913.1:p.Leu180Phe, XP_047296655.1:p.Leu270Phe

Select item 14825749953.

rs1482574995 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:39793591 (GRCh38)
21:41165518 (GRCh37)
Canonical SPDI:: NC_000021.9:39793590:G:A
Gene:: IGSF5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.39793591G>A, NC_000021.8:g.41165518G>A, NM_001080444.2:c.1106G>A, NM_001080444.1:c.1106G>A, XM_047440699.1:c.1376G>A, NP_001073913.1:p.Ser369Asn, XP_047296655.1:p.Ser459Asn

Select item 14800633024.

rs1480063302 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 21:39746246 (GRCh38)
21:41118173 (GRCh37)
Canonical SPDI:: NC_000021.9:39746245:G:A,NC_000021.9:39746245:G:T
Gene:: IGSF5 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000021.9:g.39746246G>A, NC_000021.9:g.39746246G>T, NC_000021.8:g.41118173G>A, NC_000021.8:g.41118173G>T, NM_001080444.2:c.48G>A, NM_001080444.2:c.48G>T, NM_001080444.1:c.48G>A, NM_001080444.1:c.48G>T, NP_001073913.1:p.Glu16Asp

Select item 14795138785.

rs1479513878 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTT>- [Show Flanks]
Chromosome:: 21:39779282 (GRCh38)
21:41151209 (GRCh37)
Canonical SPDI:: NC_000021.9:39779275:GTTGTTGTT:GTTGTT
Gene:: IGSF5 (Varview), LOC107985500 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTTGTT=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000026/7 (TOPMED)
-=0.00005/7 (GnomAD)
HGVS:: NC_000021.9:g.39779276GTT[2], NC_000021.8:g.41151203GTT[2], NG_081867.1:g.756GTT[2], NM_001080444.2:c.905GTT[2], NM_001080444.1:c.905GTT[2], XM_047440699.1:c.1175GTT[2], XR_001755057.1:n.162AAC[2], NP_001073913.1:p.Cys304del, XP_047296655.1:p.Cys394del

Select item 14782344706.

rs1478234470 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:39779185 (GRCh38)
21:41151112 (GRCh37)
Canonical SPDI:: NC_000021.9:39779184:G:A
Gene:: IGSF5 (Varview), LOC107985500 (Varview)
Functional Consequence:: missense_variant,500B_downstream_variant,coding_sequence_variant,downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.39779185G>A, NC_000021.8:g.41151112G>A, NG_081867.1:g.665G>A, NM_001080444.2:c.814G>A, NM_001080444.1:c.814G>A, XM_047440699.1:c.1084G>A, NP_001073913.1:p.Ala272Thr, XP_047296655.1:p.Ala362Thr

Select item 14738459277.

rs1473845927 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:39801278 (GRCh38)
21:41173205 (GRCh37)
Canonical SPDI:: NC_000021.9:39801277:C:T
Gene:: IGSF5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.39801278C>T, NC_000021.8:g.41173205C>T, NM_001080444.2:c.1145C>T, NM_001080444.1:c.1145C>T, XM_047440699.1:c.1415C>T, NP_001073913.1:p.Pro382Leu, XP_047296655.1:p.Pro472Leu

Select item 14680277058.

rs1468027705 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 21:39746293 (GRCh38)
21:41118220 (GRCh37)
Canonical SPDI:: NC_000021.9:39746292:T:C,NC_000021.9:39746292:T:G
Gene:: IGSF5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.39746293T>C, NC_000021.9:g.39746293T>G, NC_000021.8:g.41118220T>C, NC_000021.8:g.41118220T>G, NM_001080444.2:c.95T>C, NM_001080444.2:c.95T>G, NM_001080444.1:c.95T>C, NM_001080444.1:c.95T>G, NP_001073913.1:p.Val32Ala, NP_001073913.1:p.Val32Gly

Select item 14671291759.

rs1467129175 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 21:39771059 (GRCh38)
21:41142986 (GRCh37)
Canonical SPDI:: NC_000021.9:39771058:T:A
Gene:: IGSF5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.39771059T>A, NC_000021.8:g.41142986T>A, NM_001080444.2:c.562T>A, NM_001080444.1:c.562T>A, XM_047440699.1:c.832T>A, NP_001073913.1:p.Tyr188Asn, XP_047296655.1:p.Tyr278Asn

Select item 146196731110.

rs1461967311 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:39746266 (GRCh38)
21:41118193 (GRCh37)
Canonical SPDI:: NC_000021.9:39746265:G:A
Gene:: IGSF5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.39746266G>A, NC_000021.8:g.41118193G>A, NM_001080444.2:c.68G>A, NM_001080444.1:c.68G>A, NP_001073913.1:p.Gly23Asp

Select item 145384709811.

rs1453847098 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:39765535 (GRCh38)
21:41137462 (GRCh37)
Canonical SPDI:: NC_000021.9:39765534:G:A
Gene:: IGSF5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000021.9:g.39765535G>A, NC_000021.8:g.41137462G>A, NM_001080444.2:c.101G>A, NM_001080444.1:c.101G>A, XM_047440699.1:c.371G>A, NP_001073913.1:p.Gly34Asp, XP_047296655.1:p.Gly124Asp

Select item 145118470612.

rs1451184706 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:39779280 (GRCh38)
21:41151207 (GRCh37)
Canonical SPDI:: NC_000021.9:39779279:T:C
Gene:: IGSF5 (Varview), LOC107985500 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000021.9:g.39779280T>C, NC_000021.8:g.41151207T>C, NG_081867.1:g.760T>C, NM_001080444.2:c.909T>C, NM_001080444.1:c.909T>C, XM_047440699.1:c.1179T>C, XR_001755057.1:n.166A>G

Select item 144978972213.

rs1449789722 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:39770926 (GRCh38)
21:41142853 (GRCh37)
Canonical SPDI:: NC_000021.9:39770925:G:A
Gene:: IGSF5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.39770926G>A, NC_000021.8:g.41142853G>A, NM_001080444.2:c.429G>A, NM_001080444.1:c.429G>A, XM_047440699.1:c.699G>A

Select item 144892257414.

rs1448922574 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:39746222 (GRCh38)
21:41118149 (GRCh37)
Canonical SPDI:: NC_000021.9:39746221:A:G
Gene:: IGSF5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000021.9:g.39746222A>G, NC_000021.8:g.41118149A>G, NM_001080444.2:c.24A>G, NM_001080444.1:c.24A>G

Select item 144746316615.

rs1447463166 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 21:39779103 (GRCh38)
21:41151030 (GRCh37)
Canonical SPDI:: NC_000021.9:39779102:T:A
Gene:: IGSF5 (Varview), LOC107985500 (Varview)
Functional Consequence:: synonymous_variant,500B_downstream_variant,coding_sequence_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000031/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000021.9:g.39779103T>A, NC_000021.8:g.41151030T>A, NG_081867.1:g.583T>A, NM_001080444.2:c.732T>A, NM_001080444.1:c.732T>A, XM_047440699.1:c.1002T>A

Select item 144591485616.

rs1445914856 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:39765638 (GRCh38)
21:41137565 (GRCh37)
Canonical SPDI:: NC_000021.9:39765637:C:T
Gene:: IGSF5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000021.9:g.39765638C>T, NC_000021.8:g.41137565C>T, NM_001080444.2:c.204C>T, NM_001080444.1:c.204C>T, XM_047440699.1:c.474C>T

Select item 144419368717.

rs1444193687 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:39801343 (GRCh38)
21:41173270 (GRCh37)
Canonical SPDI:: NC_000021.9:39801342:A:G
Gene:: IGSF5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.39801343A>G, NC_000021.8:g.41173270A>G, NM_001080444.2:c.1210A>G, NM_001080444.1:c.1210A>G, XM_047440699.1:c.1480A>G, NP_001073913.1:p.Thr404Ala, XP_047296655.1:p.Thr494Ala

Select item 143916109318.

rs1439161093 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 21:39779206 (GRCh38)
21:41151133 (GRCh37)
Canonical SPDI:: NC_000021.9:39779205:C:A
Gene:: IGSF5 (Varview), LOC107985500 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.39779206C>A, NC_000021.8:g.41151133C>A, NG_081867.1:g.686C>A, NM_001080444.2:c.835C>A, NM_001080444.1:c.835C>A, XM_047440699.1:c.1105C>A, XR_001755057.1:n.240G>T, NP_001073913.1:p.Pro279Thr, XP_047296655.1:p.Pro369Thr

Select item 143654903019.

rs1436549030 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 21:39801308 (GRCh38)
21:41173235 (GRCh37)
Canonical SPDI:: NC_000021.9:39801307:C:G,NC_000021.9:39801307:C:T
Gene:: IGSF5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by cluster
HGVS:: NC_000021.9:g.39801308C>G, NC_000021.9:g.39801308C>T, NC_000021.8:g.41173235C>G, NC_000021.8:g.41173235C>T, NM_001080444.2:c.1175C>G, NM_001080444.2:c.1175C>T, NM_001080444.1:c.1175C>G, NM_001080444.1:c.1175C>T, XM_047440699.1:c.1445C>G, XM_047440699.1:c.1445C>T, NP_001073913.1:p.Ser392Cys, NP_001073913.1:p.Ser392Phe, XP_047296655.1:p.Ser482Cys, XP_047296655.1:p.Ser482Phe

Select item 143047297220.

rs1430472972 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 21:39792074 (GRCh38)
21:41164001 (GRCh37)
Canonical SPDI:: NC_000021.9:39792073:C:A
Gene:: IGSF5 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.39792074C>A, NC_000021.8:g.41164001C>A, NM_001080444.2:c.1023C>A, NM_001080444.1:c.1023C>A, XM_047440699.1:c.1293C>A, NP_001073913.1:p.Tyr341Ter, XP_047296655.1:p.Tyr431Ter

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