SNP Links for Protein (Select 807045910) - SNP

Links from Protein

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Select item 14912111551.

rs1491211155 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 2:27226844 (GRCh38)
2:27449712 (GRCh37)
Canonical SPDI:: NC_000002.12:27226843:AG:
Gene:: CAD (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000019/5 (TOPMED)
-=0.000021/3 (GnomAD)
-=0.000106/2 (TOMMO)
HGVS:: NC_000002.12:g.27226844_27226845del, NC_000002.11:g.27449712_27449713del, NG_046394.1:g.14455_14456del, NM_004341.5:c.2169_2170del, NM_004341.4:c.2169_2170del, NM_004341.3:c.2169_2170del, NM_001306079.2:c.1980_1981del, NM_001306079.1:c.1980_1981del, XM_006712101.4:c.1980_1981del, XM_006712101.3:c.1980_1981del, XM_006712101.2:c.1980_1981del, XM_006712101.1:c.1980_1981del, XM_047445803.1:c.2169_2170del, NP_004332.2:p.Gly725fs, NP_001293008.1:p.Gly662fs, XP_006712164.1:p.Gly662fs, XP_047301759.1:p.Gly725fs

Select item 14905710902.

rs1490571090 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:27236379 (GRCh38)
2:27459247 (GRCh37)
Canonical SPDI:: NC_000002.12:27236378:G:A
Gene:: CAD (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000023/6 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000002.12:g.27236379G>A, NC_000002.11:g.27459247G>A, NG_046394.1:g.23990G>A, NM_004341.5:c.4170G>A, NM_004341.4:c.4170G>A, NM_004341.3:c.4170G>A, NM_001306079.2:c.3981G>A, NM_001306079.1:c.3981G>A, XM_006712101.4:c.3981G>A, XM_006712101.3:c.3981G>A, XM_006712101.2:c.3981G>A, XM_006712101.1:c.3981G>A, XM_047445803.1:c.4170G>A

Select item 14890305533.

rs1489030553 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:27223675 (GRCh38)
2:27446543 (GRCh37)
Canonical SPDI:: NC_000002.12:27223674:T:A
Gene:: CAD (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=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.27223675T>A, NC_000002.11:g.27446543T>A, NG_046394.1:g.11286T>A, NM_004341.5:c.922T>A, NM_004341.4:c.922T>A, NM_004341.3:c.922T>A, NM_001306079.2:c.922T>A, NM_001306079.1:c.922T>A, XM_006712101.4:c.922T>A, XM_006712101.3:c.922T>A, XM_006712101.2:c.922T>A, XM_006712101.1:c.922T>A, XM_047445803.1:c.922T>A, NP_004332.2:p.Trp308Arg, NP_001293008.1:p.Trp308Arg, XP_006712164.1:p.Trp308Arg, XP_047301759.1:p.Trp308Arg

Select item 14884671394.

rs1488467139 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:27238475 (GRCh38)
2:27461343 (GRCh37)
Canonical SPDI:: NC_000002.12:27238474:C:T
Gene:: CAD (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=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.27238475C>T, NC_000002.11:g.27461343C>T, NG_046394.1:g.26086C>T, NM_004341.5:c.4905C>T, NM_004341.4:c.4905C>T, NM_004341.3:c.4905C>T, NM_001306079.2:c.4716C>T, NM_001306079.1:c.4716C>T, XM_006712101.4:c.4716C>T, XM_006712101.3:c.4716C>T, XM_006712101.2:c.4716C>T, XM_006712101.1:c.4716C>T, XM_047445803.1:c.4905C>T

Select item 14881073115.

rs1488107311 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:27238559 (GRCh38)
2:27461427 (GRCh37)
Canonical SPDI:: NC_000002.12:27238558:G:C
Gene:: CAD (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.27238559G>C, NC_000002.11:g.27461427G>C, NG_046394.1:g.26170G>C, NM_004341.5:c.4989G>C, NM_004341.4:c.4989G>C, NM_004341.3:c.4989G>C, NM_001306079.2:c.4800G>C, NM_001306079.1:c.4800G>C, XM_006712101.4:c.4800G>C, XM_006712101.3:c.4800G>C, XM_006712101.2:c.4800G>C, XM_006712101.1:c.4800G>C, XM_047445803.1:c.4989G>C, NP_004332.2:p.Glu1663Asp, NP_001293008.1:p.Glu1600Asp, XP_006712164.1:p.Glu1600Asp, XP_047301759.1:p.Glu1663Asp

Select item 14878062566.

rs1487806256 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:27239420 (GRCh38)
2:27462288 (GRCh37)
Canonical SPDI:: NC_000002.12:27239419:C:A,NC_000002.12:27239419:C:T
Gene:: CAD (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000342/1 (KOREAN)
T=0.000546/1 (Korea1K)
HGVS:: NC_000002.12:g.27239420C>A, NC_000002.12:g.27239420C>T, NC_000002.11:g.27462288C>A, NC_000002.11:g.27462288C>T, NG_046394.1:g.27031C>A, NG_046394.1:g.27031C>T, NM_004341.5:c.5343C>A, NM_004341.5:c.5343C>T, NM_004341.4:c.5343C>A, NM_004341.4:c.5343C>T, NM_004341.3:c.5343C>A, NM_004341.3:c.5343C>T, NM_001306079.2:c.5154C>A, NM_001306079.2:c.5154C>T, NM_001306079.1:c.5154C>A, NM_001306079.1:c.5154C>T, XM_006712101.4:c.5154C>A, XM_006712101.4:c.5154C>T, XM_006712101.3:c.5154C>A, XM_006712101.3:c.5154C>T, XM_006712101.2:c.5154C>A, XM_006712101.2:c.5154C>T, XM_006712101.1:c.5154C>A, XM_006712101.1:c.5154C>T, XM_047445803.1:c.5343C>A, XM_047445803.1:c.5343C>T

Select item 14870656407.

rs1487065640 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 2:27222948 (GRCh38)
2:27445816 (GRCh37)
Canonical SPDI:: NC_000002.12:27222947:A:G,NC_000002.12:27222947:A:T
Gene:: CAD (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.27222948A>G, NC_000002.12:g.27222948A>T, NC_000002.11:g.27445816A>G, NC_000002.11:g.27445816A>T, NG_046394.1:g.10559A>G, NG_046394.1:g.10559A>T, NM_004341.5:c.720A>G, NM_004341.5:c.720A>T, NM_004341.4:c.720A>G, NM_004341.4:c.720A>T, NM_004341.3:c.720A>G, NM_004341.3:c.720A>T, NM_001306079.2:c.720A>G, NM_001306079.2:c.720A>T, NM_001306079.1:c.720A>G, NM_001306079.1:c.720A>T, XM_006712101.4:c.720A>G, XM_006712101.4:c.720A>T, XM_006712101.3:c.720A>G, XM_006712101.3:c.720A>T, XM_006712101.2:c.720A>G, XM_006712101.2:c.720A>T, XM_006712101.1:c.720A>G, XM_006712101.1:c.720A>T, XM_047445803.1:c.720A>G, XM_047445803.1:c.720A>T, NP_004332.2:p.Leu240Phe, NP_001293008.1:p.Leu240Phe, XP_006712164.1:p.Leu240Phe, XP_047301759.1:p.Leu240Phe

Select item 14870077328.

rs1487007732 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:27226569 (GRCh38)
2:27449437 (GRCh37)
Canonical SPDI:: NC_000002.12:27226568:C:T
Gene:: CAD (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_000002.12:g.27226569C>T, NC_000002.11:g.27449437C>T, NG_046394.1:g.14180C>T, NM_004341.5:c.2076C>T, NM_004341.4:c.2076C>T, NM_004341.3:c.2076C>T, NM_001306079.2:c.1887C>T, NM_001306079.1:c.1887C>T, XM_006712101.4:c.1887C>T, XM_006712101.3:c.1887C>T, XM_006712101.2:c.1887C>T, XM_006712101.1:c.1887C>T, XM_047445803.1:c.2076C>T

Select item 14869240889.

rs1486924088 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:27241160 (GRCh38)
2:27464028 (GRCh37)
Canonical SPDI:: NC_000002.12:27241159:C:T
Gene:: CAD (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_000002.12:g.27241160C>T, NC_000002.11:g.27464028C>T, NG_046394.1:g.28771C>T, NM_004341.5:c.5741C>T, NM_004341.4:c.5741C>T, NM_004341.3:c.5741C>T, NM_001306079.2:c.5552C>T, NM_001306079.1:c.5552C>T, XM_006712101.4:c.5603C>T, XM_006712101.3:c.5603C>T, XM_006712101.2:c.5603C>T, XM_006712101.1:c.5603C>T, XM_047445803.1:c.5792C>T, NP_004332.2:p.Thr1914Ile, NP_001293008.1:p.Thr1851Ile, XP_006712164.1:p.Thr1868Ile, XP_047301759.1:p.Thr1931Ile

Select item 148635608310.

rs1486356083 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:27232557 (GRCh38)
2:27455425 (GRCh37)
Canonical SPDI:: NC_000002.12:27232556:C:T
Gene:: CAD (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.27232557C>T, NC_000002.11:g.27455425C>T, NG_046394.1:g.20168C>T, NM_004341.5:c.2755C>T, NM_004341.4:c.2755C>T, NM_004341.3:c.2755C>T, NM_001306079.2:c.2566C>T, NM_001306079.1:c.2566C>T, NG_082495.1:g.1176C>T, XM_006712101.4:c.2566C>T, XM_006712101.3:c.2566C>T, XM_006712101.2:c.2566C>T, XM_006712101.1:c.2566C>T, XM_047445803.1:c.2755C>T

Select item 148521743811.

rs1485217438 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:27232168 (GRCh38)
2:27455036 (GRCh37)
Canonical SPDI:: NC_000002.12:27232167:G:T
Gene:: CAD (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)
HGVS:: NC_000002.12:g.27232168G>T, NC_000002.11:g.27455036G>T, NG_046394.1:g.19779G>T, NM_004341.5:c.2589G>T, NM_004341.4:c.2589G>T, NM_004341.3:c.2589G>T, NM_001306079.2:c.2400G>T, NM_001306079.1:c.2400G>T, NG_082495.1:g.787G>T, XM_006712101.4:c.2400G>T, XM_006712101.3:c.2400G>T, XM_006712101.2:c.2400G>T, XM_006712101.1:c.2400G>T, XM_047445803.1:c.2589G>T

Select item 148491270712.

rs1484912707 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:27237533 (GRCh38)
2:27460401 (GRCh37)
Canonical SPDI:: NC_000002.12:27237532:C:T
Gene:: CAD (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.27237533C>T, NC_000002.11:g.27460401C>T, NG_046394.1:g.25144C>T, NM_004341.5:c.4551C>T, NM_004341.4:c.4551C>T, NM_004341.3:c.4551C>T, NM_001306079.2:c.4362C>T, NM_001306079.1:c.4362C>T, XM_006712101.4:c.4362C>T, XM_006712101.3:c.4362C>T, XM_006712101.2:c.4362C>T, XM_006712101.1:c.4362C>T, XM_047445803.1:c.4551C>T

Select item 148458783513.

rs1484587835 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:27241925 (GRCh38)
2:27464793 (GRCh37)
Canonical SPDI:: NC_000002.12:27241924:C:T
Gene:: CAD (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000024/6 (GnomAD_exomes)
HGVS:: NC_000002.12:g.27241925C>T, NC_000002.11:g.27464793C>T, NG_046394.1:g.29536C>T, NM_004341.5:c.5898C>T, NM_004341.4:c.5898C>T, NM_004341.3:c.5898C>T, NM_001306079.2:c.5709C>T, NM_001306079.1:c.5709C>T, XM_006712101.4:c.5760C>T, XM_006712101.3:c.5760C>T, XM_006712101.2:c.5760C>T, XM_006712101.1:c.5760C>T, XM_047445803.1:c.5949C>T

Select item 148415438514.

rs1484154385 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:27234585 (GRCh38)
2:27457453 (GRCh37)
Canonical SPDI:: NC_000002.12:27234584:C:T
Gene:: CAD (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.27234585C>T, NC_000002.11:g.27457453C>T, NG_046394.1:g.22196C>T, NM_004341.5:c.3686C>T, NM_004341.4:c.3686C>T, NM_004341.3:c.3686C>T, NM_001306079.2:c.3497C>T, NM_001306079.1:c.3497C>T, XM_006712101.4:c.3497C>T, XM_006712101.3:c.3497C>T, XM_006712101.2:c.3497C>T, XM_006712101.1:c.3497C>T, XM_047445803.1:c.3686C>T, NP_004332.2:p.Thr1229Ile, NP_001293008.1:p.Thr1166Ile, XP_006712164.1:p.Thr1166Ile, XP_047301759.1:p.Thr1229Ile

Select item 148410770915.

rs1484107709 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:27233491 (GRCh38)
2:27456359 (GRCh37)
Canonical SPDI:: NC_000002.12:27233490:C:T
Gene:: CAD (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.27233491C>T, NC_000002.11:g.27456359C>T, NG_046394.1:g.21102C>T, NM_004341.5:c.3171C>T, NM_004341.4:c.3171C>T, NM_004341.3:c.3171C>T, NM_001306079.2:c.2982C>T, NM_001306079.1:c.2982C>T, XM_006712101.4:c.2982C>T, XM_006712101.3:c.2982C>T, XM_006712101.2:c.2982C>T, XM_006712101.1:c.2982C>T, XM_047445803.1:c.3171C>T

Select item 148404439216.

rs1484044392 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:27234106 (GRCh38)
2:27456974 (GRCh37)
Canonical SPDI:: NC_000002.12:27234105:G:A
Gene:: CAD (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.27234106G>A, NC_000002.11:g.27456974G>A, NG_046394.1:g.21717G>A, NM_004341.5:c.3498G>A, NM_004341.4:c.3498G>A, NM_004341.3:c.3498G>A, NM_001306079.2:c.3309G>A, NM_001306079.1:c.3309G>A, XM_006712101.4:c.3309G>A, XM_006712101.3:c.3309G>A, XM_006712101.2:c.3309G>A, XM_006712101.1:c.3309G>A, XM_047445803.1:c.3498G>A

Select item 148370992517.

rs1483709925 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:27242750 (GRCh38)
2:27465618 (GRCh37)
Canonical SPDI:: NC_000002.12:27242749:T:A
Gene:: CAD (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=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.27242750T>A, NC_000002.11:g.27465618T>A, NG_046394.1:g.30361T>A, NM_004341.5:c.6353T>A, NM_004341.4:c.6353T>A, NM_004341.3:c.6353T>A, NM_001306079.2:c.6164T>A, NM_001306079.1:c.6164T>A, NG_082496.1:g.214T>A, XM_006712101.4:c.6215T>A, XM_006712101.3:c.6215T>A, XM_006712101.2:c.6215T>A, XM_006712101.1:c.6215T>A, XM_047445803.1:c.6404T>A, NP_004332.2:p.Phe2118Tyr, NP_001293008.1:p.Phe2055Tyr, XP_006712164.1:p.Phe2072Tyr, XP_047301759.1:p.Phe2135Tyr

Select item 148312644618.

rs1483126446 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:27233086 (GRCh38)
2:27455954 (GRCh37)
Canonical SPDI:: NC_000002.12:27233085:C:T
Gene:: CAD (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.27233086C>T, NC_000002.11:g.27455954C>T, NG_046394.1:g.20697C>T, NM_004341.5:c.2937C>T, NM_004341.4:c.2937C>T, NM_004341.3:c.2937C>T, NM_001306079.2:c.2748C>T, NM_001306079.1:c.2748C>T, XM_006712101.4:c.2748C>T, XM_006712101.3:c.2748C>T, XM_006712101.2:c.2748C>T, XM_006712101.1:c.2748C>T, XM_047445803.1:c.2937C>T

Select item 148309670719.

rs1483096707 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:27241172 (GRCh38)
2:27464040 (GRCh37)
Canonical SPDI:: NC_000002.12:27241171:T:C
Gene:: CAD (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.27241172T>C, NC_000002.11:g.27464040T>C, NG_046394.1:g.28783T>C, NM_004341.5:c.5753T>C, NM_004341.4:c.5753T>C, NM_004341.3:c.5753T>C, NM_001306079.2:c.5564T>C, NM_001306079.1:c.5564T>C, XM_006712101.4:c.5615T>C, XM_006712101.3:c.5615T>C, XM_006712101.2:c.5615T>C, XM_006712101.1:c.5615T>C, XM_047445803.1:c.5804T>C, NP_004332.2:p.Leu1918Pro, NP_001293008.1:p.Leu1855Pro, XP_006712164.1:p.Leu1872Pro, XP_047301759.1:p.Leu1935Pro

Select item 148288137520.

rs1482881375 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:27236484 (GRCh38)
2:27459352 (GRCh37)
Canonical SPDI:: NC_000002.12:27236483:C:T
Gene:: CAD (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign
HGVS:: NC_000002.12:g.27236484C>T, NC_000002.11:g.27459352C>T, NG_046394.1:g.24095C>T, NM_004341.5:c.4275C>T, NM_004341.4:c.4275C>T, NM_004341.3:c.4275C>T, NM_001306079.2:c.4086C>T, NM_001306079.1:c.4086C>T, XM_006712101.4:c.4086C>T, XM_006712101.3:c.4086C>T, XM_006712101.2:c.4086C>T, XM_006712101.1:c.4086C>T, XM_047445803.1:c.4275C>T

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