SNP Links for Protein (Select 126116596) - SNP

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Links from Protein

Items: 1 to 20 of 3628

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Select item 14908050881.

rs1490805088 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:197142752 (GRCh38)
1:197111882 (GRCh37)
Canonical SPDI:: NC_000001.11:197142751:C:A,NC_000001.11:197142751:C:T
Gene:: ASPM (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.197142752C>A, NC_000001.11:g.197142752C>T, NC_000001.10:g.197111882C>A, NC_000001.10:g.197111882C>T, NG_015867.1:g.8943G>T, NG_015867.1:g.8943G>A, NM_018136.5:c.1500G>T, NM_018136.5:c.1500G>A, NM_018136.4:c.1500G>T, NM_018136.4:c.1500G>A, NM_001206846.2:c.1500G>T, NM_001206846.2:c.1500G>A, NM_001206846.1:c.1500G>T, NM_001206846.1:c.1500G>A, NP_060606.3:p.Arg500Ser, NP_001193775.1:p.Arg500Ser

Select item 14905068012.

rs1490506801 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:197090043 (GRCh38)
1:197059173 (GRCh37)
Canonical SPDI:: NC_000001.11:197090042:C:T
Gene:: ASPM (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.197090043C>T, NC_000001.10:g.197059173C>T, NG_015867.1:g.61652G>A, NM_018136.5:c.9871G>A, NM_018136.4:c.9871G>A, NM_001206846.2:c.5116G>A, NM_001206846.1:c.5116G>A, NM_018123.1:c.*2343G>A, NP_060606.3:p.Ala3291Thr, NP_001193775.1:p.Ala1706Thr

Select item 14897908883.

rs1489790888 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:197143164 (GRCh38)
1:197112294 (GRCh37)
Canonical SPDI:: NC_000001.11:197143163:T:A
Gene:: ASPM (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.197143164T>A, NC_000001.10:g.197112294T>A, NG_015867.1:g.8531A>T, NM_018136.5:c.1088A>T, NM_018136.4:c.1088A>T, NM_001206846.2:c.1088A>T, NM_001206846.1:c.1088A>T, NP_060606.3:p.Gln363Leu, NP_001193775.1:p.Gln363Leu

Select item 14897896424.

rs1489789642 has merged into rs199422176 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 1:197101120 (GRCh38)
1:197070250 (GRCh37)
Canonical SPDI:: NC_000001.11:197101118:TTT:T
Gene:: ASPM (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,frameshift_variant
Clinical significance:: pathogenic
Validated:: by frequency,by cluster
MAF:: -=0.000004/1 (GnomAD_exomes)
-=0.000008/1 (ExAC)
-=0.000013/1 (PAGE_STUDY)
-=0.000035/1 (TOMMO)
-=0.00024/3 (GoESP)
HGVS:: NC_000001.11:g.197101120_197101121del, NC_000001.10:g.197070250_197070251del, NG_015867.1:g.50575_50576del, NM_018136.5:c.8131_8132del, NM_018136.4:c.8131_8132del, NM_018123.1:c.*603_*604del, NP_060606.3:p.Lys2711fs

Select item 14897462095.

rs1489746209 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:197102791 (GRCh38)
1:197071921 (GRCh37)
Canonical SPDI:: NC_000001.11:197102790:A:C
Gene:: ASPM (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.197102791A>C, NC_000001.10:g.197071921A>C, NG_015867.1:g.48904T>G, NM_018136.5:c.6460T>G, NM_018136.4:c.6460T>G, NP_060606.3:p.Tyr2154Asp

Select item 14889639046.

rs1488963904 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:197144100 (GRCh38)
1:197113230 (GRCh37)
Canonical SPDI:: NC_000001.11:197144099:G:C
Gene:: ASPM (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
C=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000001.11:g.197144100G>C, NC_000001.10:g.197113230G>C, NG_015867.1:g.7595C>G, NM_018136.5:c.298C>G, NM_018136.4:c.298C>G, NM_001206846.2:c.298C>G, NM_001206846.1:c.298C>G, NP_060606.3:p.Pro100Ala, NP_001193775.1:p.Pro100Ala

Select item 14881467617.

rs1488146761 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 1:197101503 (GRCh38)
1:197070633 (GRCh37)
Canonical SPDI:: NC_000001.11:197101501:TAT:T
Gene:: ASPM (Varview)
Functional Consequence:: frameshift_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.197101503_197101504del, NC_000001.10:g.197070633_197070634del, NG_015867.1:g.50192_50193del, NM_018136.5:c.7748_7749del, NM_018136.4:c.7748_7749del, NM_018123.1:c.*220_*221del, NP_060606.3:p.Ile2583fs

Select item 14880762038.

rs1488076203 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:197102602 (GRCh38)
1:197071732 (GRCh37)
Canonical SPDI:: NC_000001.11:197102601:T:C
Gene:: ASPM (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.197102602T>C, NC_000001.10:g.197071732T>C, NG_015867.1:g.49093A>G, NM_018136.5:c.6649A>G, NM_018136.4:c.6649A>G, NM_018123.1:c.-27A>G, NP_060606.3:p.Lys2217Glu

Select item 14878203829.

rs1487820382 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:197094120 (GRCh38)
1:197063250 (GRCh37)
Canonical SPDI:: NC_000001.11:197094119:A:C
Gene:: ASPM (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.197094120A>C, NC_000001.10:g.197063250A>C, NG_015867.1:g.57575T>G, NM_018136.5:c.9048T>G, NM_018136.4:c.9048T>G, NM_001206846.2:c.4293T>G, NM_001206846.1:c.4293T>G, NM_018123.1:c.*1520T>G

Select item 148742402110.

rs1487424021 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:197104557 (GRCh38)
1:197073687 (GRCh37)
Canonical SPDI:: NC_000001.11:197104556:A:G
Gene:: ASPM (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.197104557A>G, NC_000001.10:g.197073687A>G, NG_015867.1:g.47138T>C, NM_018136.5:c.4694T>C, NM_018136.4:c.4694T>C, NP_060606.3:p.Val1565Ala

Select item 148699238911.

rs1486992389 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:197104488 (GRCh38)
1:197073618 (GRCh37)
Canonical SPDI:: NC_000001.11:197104487:T:G
Gene:: ASPM (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.197104488T>G, NC_000001.10:g.197073618T>G, NG_015867.1:g.47207A>C, NM_018136.5:c.4763A>C, NM_018136.4:c.4763A>C, NP_060606.3:p.Lys1588Thr

Select item 148680811512.

rs1486808115 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:197101856 (GRCh38)
1:197070986 (GRCh37)
Canonical SPDI:: NC_000001.11:197101855:C:T
Gene:: ASPM (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.197101856C>T, NC_000001.10:g.197070986C>T, NG_015867.1:g.49839G>A, NM_018136.5:c.7395G>A, NM_018136.4:c.7395G>A, NM_018123.1:c.720G>A

Select item 148665033913.

rs1486650339 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:197096123 (GRCh38)
1:197065253 (GRCh37)
Canonical SPDI:: NC_000001.11:197096122:T:C
Gene:: ASPM (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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.197096123T>C, NC_000001.10:g.197065253T>C, NG_015867.1:g.55572A>G, NM_018136.5:c.8862A>G, NM_018136.4:c.8862A>G, NM_001206846.2:c.4107A>G, NM_001206846.1:c.4107A>G, NM_018123.1:c.*1334A>G

Select item 148656832214.

rs1486568322 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:197101663 (GRCh38)
1:197070793 (GRCh37)
Canonical SPDI:: NC_000001.11:197101662:G:T
Gene:: ASPM (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.197101663G>T, NC_000001.10:g.197070793G>T, NG_015867.1:g.50032C>A, NM_018136.5:c.7588C>A, NM_018136.4:c.7588C>A, NM_018123.1:c.*60C>A, NP_060606.3:p.Gln2530Lys

Select item 148637317415.

rs1486373174 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:197124323 (GRCh38)
1:197093453 (GRCh37)
Canonical SPDI:: NC_000001.11:197124322:A:T
Gene:: ASPM (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.197124323A>T, NC_000001.10:g.197093453A>T, NG_015867.1:g.27372T>A, NM_018136.5:c.3177T>A, NM_018136.4:c.3177T>A, NM_001206846.2:c.3177T>A, NM_001206846.1:c.3177T>A

Select item 148628523216.

rs1486285232 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:197124924 (GRCh38)
1:197094054 (GRCh37)
Canonical SPDI:: NC_000001.11:197124923:A:G
Gene:: ASPM (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.197124924A>G, NC_000001.10:g.197094054A>G, NG_015867.1:g.26771T>C, NM_018136.5:c.3114T>C, NM_018136.4:c.3114T>C, NM_001206846.2:c.3114T>C, NM_001206846.1:c.3114T>C

Select item 148608347417.

rs1486083474 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:197103765 (GRCh38)
1:197072895 (GRCh37)
Canonical SPDI:: NC_000001.11:197103764:A:C
Gene:: ASPM (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.197103765A>C, NC_000001.10:g.197072895A>C, NG_015867.1:g.47930T>G, NM_018136.5:c.5486T>G, NM_018136.4:c.5486T>G, NP_060606.3:p.Leu1829Arg

Select item 148606477618.

rs1486064776 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:197122218 (GRCh38)
1:197091348 (GRCh37)
Canonical SPDI:: NC_000001.11:197122217:C:T
Gene:: ASPM (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.197122218C>T, NC_000001.10:g.197091348C>T, NG_015867.1:g.29477G>A, NM_018136.5:c.3682G>A, NM_018136.4:c.3682G>A, NM_001206846.2:c.3682G>A, NM_001206846.1:c.3682G>A, NP_060606.3:p.Gly1228Ser, NP_001193775.1:p.Gly1228Ser

Select item 148553754519.

rs1485537545 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:197100959 (GRCh38)
1:197070089 (GRCh37)
Canonical SPDI:: NC_000001.11:197100958:T:C
Gene:: ASPM (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (GnomAD)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.197100959T>C, NC_000001.10:g.197070089T>C, NG_015867.1:g.50736A>G, NM_018136.5:c.8292A>G, NM_018136.4:c.8292A>G, NM_018123.1:c.*764A>G

Select item 148525504620.

rs1485255046 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:197142565 (GRCh38)
1:197111695 (GRCh37)
Canonical SPDI:: NC_000001.11:197142564:T:C
Gene:: ASPM (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)
C=0.000342/1 (KOREAN)
HGVS:: NC_000001.11:g.197142565T>C, NC_000001.10:g.197111695T>C, NG_015867.1:g.9130A>G, NM_018136.5:c.1687A>G, NM_018136.4:c.1687A>G, NM_001206846.2:c.1687A>G, NM_001206846.1:c.1687A>G, NP_060606.3:p.Thr563Ala, NP_001193775.1:p.Thr563Ala

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