SNP Links for Protein (Select 112420977) - SNP

Links from Protein

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Select item 14905423701.

rs1490542370 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:12827544 (GRCh38)
3:12869043 (GRCh37)
Canonical SPDI:: NC_000003.12:12827543:G:A
Gene:: CAND2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000003.12:g.12827544G>A, NC_000003.11:g.12869043G>A, XM_011533503.3:c.3315G>A, XM_011533503.2:c.3315G>A, XM_011533503.1:c.3315G>A, XM_011533504.3:c.3243G>A, XM_011533504.2:c.3243G>A, XM_011533504.1:c.3243G>A, NM_012298.3:c.2964G>A, NM_012298.2:c.2964G>A, NM_001162499.2:c.3315G>A, NM_001162499.1:c.3315G>A

Select item 14902672722.

rs1490267272 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:12813304 (GRCh38)
3:12854803 (GRCh37)
Canonical SPDI:: NC_000003.12:12813303:A:G
Gene:: CAND2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.12813304A>G, NC_000003.11:g.12854803A>G, XM_011533503.3:c.922A>G, XM_011533503.2:c.922A>G, XM_011533503.1:c.922A>G, XM_011533504.3:c.850A>G, XM_011533504.2:c.850A>G, XM_011533504.1:c.850A>G, NM_012298.3:c.643A>G, NM_012298.2:c.643A>G, NM_001162499.2:c.922A>G, NM_001162499.1:c.922A>G, XP_011531805.1:p.Ile308Val, XP_011531806.1:p.Ile284Val, NP_036430.1:p.Ile215Val, NP_001155971.1:p.Ile308Val

Select item 14895440463.

rs1489544046 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 3:12817320 (GRCh38)
3:12858819 (GRCh37)
Canonical SPDI:: NC_000003.12:12817319:G:A,NC_000003.12:12817319:G:C
Gene:: CAND2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000003.12:g.12817320G>A, NC_000003.12:g.12817320G>C, NC_000003.11:g.12858819G>A, NC_000003.11:g.12858819G>C, XM_011533503.3:c.2388G>A, XM_011533503.3:c.2388G>C, XM_011533503.2:c.2388G>A, XM_011533503.2:c.2388G>C, XM_011533503.1:c.2388G>A, XM_011533503.1:c.2388G>C, XM_011533504.3:c.2316G>A, XM_011533504.3:c.2316G>C, XM_011533504.2:c.2316G>A, XM_011533504.2:c.2316G>C, XM_011533504.1:c.2316G>A, XM_011533504.1:c.2316G>C, NM_012298.3:c.2109G>A, NM_012298.3:c.2109G>C, NM_012298.2:c.2109G>A, NM_012298.2:c.2109G>C, NM_001162499.2:c.2388G>A, NM_001162499.2:c.2388G>C, NM_001162499.1:c.2388G>A, NM_001162499.1:c.2388G>C

Select item 14889750694.

rs1488975069 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:12813291 (GRCh38)
3:12854790 (GRCh37)
Canonical SPDI:: NC_000003.12:12813290:C:T
Gene:: CAND2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000003.12:g.12813291C>T, NC_000003.11:g.12854790C>T, XM_011533503.3:c.909C>T, XM_011533503.2:c.909C>T, XM_011533503.1:c.909C>T, XM_011533504.3:c.837C>T, XM_011533504.2:c.837C>T, XM_011533504.1:c.837C>T, NM_012298.3:c.630C>T, NM_012298.2:c.630C>T, NM_001162499.2:c.909C>T, NM_001162499.1:c.909C>T

Select item 14887183905.

rs1488718390 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:12813318 (GRCh38)
3:12854817 (GRCh37)
Canonical SPDI:: NC_000003.12:12813317:C:T
Gene:: CAND2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0.000223/2 (ALFA)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.12813318C>T, NC_000003.11:g.12854817C>T, XM_011533503.3:c.936C>T, XM_011533503.2:c.936C>T, XM_011533503.1:c.936C>T, XM_011533504.3:c.864C>T, XM_011533504.2:c.864C>T, XM_011533504.1:c.864C>T, NM_012298.3:c.657C>T, NM_012298.2:c.657C>T, NM_001162499.2:c.936C>T, NM_001162499.1:c.936C>T

Select item 14882418206.

rs1488241820 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:12815938 (GRCh38)
3:12857437 (GRCh37)
Canonical SPDI:: NC_000003.12:12815937:C:T
Gene:: CAND2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.12815938C>T, NC_000003.11:g.12857437C>T, XM_011533503.3:c.1371C>T, XM_011533503.2:c.1371C>T, XM_011533503.1:c.1371C>T, XM_011533504.3:c.1299C>T, XM_011533504.2:c.1299C>T, XM_011533504.1:c.1299C>T, NM_012298.3:c.1092C>T, NM_012298.2:c.1092C>T, NM_001162499.2:c.1371C>T, NM_001162499.1:c.1371C>T

Select item 14881181727.

rs1488118172 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:12825570 (GRCh38)
3:12867069 (GRCh37)
Canonical SPDI:: NC_000003.12:12825569:G:A
Gene:: CAND2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000003.12:g.12825570G>A, NC_000003.11:g.12867069G>A, XM_011533503.3:c.3141G>A, XM_011533503.2:c.3141G>A, XM_011533503.1:c.3141G>A, XM_011533504.3:c.3069G>A, XM_011533504.2:c.3069G>A, XM_011533504.1:c.3069G>A, NM_012298.3:c.2790G>A, NM_012298.2:c.2790G>A, NM_001162499.2:c.3141G>A, NM_001162499.1:c.3141G>A

Select item 14881052598.

rs1488105259 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:12831499 (GRCh38)
3:12872998 (GRCh37)
Canonical SPDI:: NC_000003.12:12831498:C:G,NC_000003.12:12831498:C:T
Gene:: CAND2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000003.12:g.12831499C>G, NC_000003.12:g.12831499C>T, NC_000003.11:g.12872998C>G, NC_000003.11:g.12872998C>T, XM_011533504.3:c.3338C>G, XM_011533504.3:c.3338C>T, XM_011533504.2:c.3338C>G, XM_011533504.2:c.3338C>T, XM_011533504.1:c.3338C>G, XM_011533504.1:c.3338C>T, NM_012298.3:c.3059C>G, NM_012298.3:c.3059C>T, NM_012298.2:c.3059C>G, NM_012298.2:c.3059C>T, NM_001162499.2:c.3410C>G, NM_001162499.2:c.3410C>T, NM_001162499.1:c.3410C>G, NM_001162499.1:c.3410C>T, XP_011531806.1:p.Thr1113Ser, XP_011531806.1:p.Thr1113Ile, NP_036430.1:p.Thr1020Ser, NP_036430.1:p.Thr1020Ile, NP_001155971.1:p.Thr1137Ser, NP_001155971.1:p.Thr1137Ile

Select item 14867380759.

rs1486738075 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:12803630 (GRCh38)
3:12845129 (GRCh37)
Canonical SPDI:: NC_000003.12:12803629:T:A
Gene:: CAND2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000003.12:g.12803630T>A, NC_000003.11:g.12845129T>A, XM_011533503.3:c.211T>A, XM_011533503.2:c.211T>A, XM_011533503.1:c.211T>A, XM_011533504.3:c.139T>A, XM_011533504.2:c.139T>A, XM_011533504.1:c.139T>A, NM_012298.3:c.211T>A, NM_012298.2:c.211T>A, NM_001162499.2:c.211T>A, NM_001162499.1:c.211T>A, XP_011531805.1:p.Cys71Ser, XP_011531806.1:p.Cys47Ser, NP_036430.1:p.Trp71Arg, NP_001155971.1:p.Cys71Ser

Select item 148579754010.

rs1485797540 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:12817513 (GRCh38)
3:12859012 (GRCh37)
Canonical SPDI:: NC_000003.12:12817512:G:A
Gene:: CAND2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.12817513G>A, NC_000003.11:g.12859012G>A, XM_011533503.3:c.2581G>A, XM_011533503.2:c.2581G>A, XM_011533503.1:c.2581G>A, XM_011533504.3:c.2509G>A, XM_011533504.2:c.2509G>A, XM_011533504.1:c.2509G>A, NM_012298.3:c.2302G>A, NM_012298.2:c.2302G>A, NM_001162499.2:c.2581G>A, NM_001162499.1:c.2581G>A, XP_011531805.1:p.Glu861Lys, XP_011531806.1:p.Glu837Lys, NP_036430.1:p.Glu768Lys, NP_001155971.1:p.Glu861Lys

Select item 148519705711.

rs1485197057 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:12817201 (GRCh38)
3:12858700 (GRCh37)
Canonical SPDI:: NC_000003.12:12817200:G:A
Gene:: CAND2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.12817201G>A, NC_000003.11:g.12858700G>A, XM_011533503.3:c.2269G>A, XM_011533503.2:c.2269G>A, XM_011533503.1:c.2269G>A, XM_011533504.3:c.2197G>A, XM_011533504.2:c.2197G>A, XM_011533504.1:c.2197G>A, NM_012298.3:c.1990G>A, NM_012298.2:c.1990G>A, NM_001162499.2:c.2269G>A, NM_001162499.1:c.2269G>A, XP_011531805.1:p.Ala757Thr, XP_011531806.1:p.Ala733Thr, NP_036430.1:p.Ala664Thr, NP_001155971.1:p.Ala757Thr

Select item 148481965012.

rs1484819650 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:12817778 (GRCh38)
3:12859277 (GRCh37)
Canonical SPDI:: NC_000003.12:12817777:A:C
Gene:: CAND2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.12817778A>C, NC_000003.11:g.12859277A>C, XM_011533503.3:c.2846A>C, XM_011533503.2:c.2846A>C, XM_011533503.1:c.2846A>C, XM_011533504.3:c.2774A>C, XM_011533504.2:c.2774A>C, XM_011533504.1:c.2774A>C, NM_012298.3:c.2567A>C, NM_012298.2:c.2567A>C, NM_001162499.2:c.2846A>C, NM_001162499.1:c.2846A>C, XP_011531805.1:p.Glu949Ala, XP_011531806.1:p.Glu925Ala, NP_036430.1:p.Glu856Ala, NP_001155971.1:p.Glu949Ala

Select item 148471190613.

rs1484711906 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:12816884 (GRCh38)
3:12858383 (GRCh37)
Canonical SPDI:: NC_000003.12:12816883:C:T
Gene:: CAND2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.12816884C>T, NC_000003.11:g.12858383C>T, XM_011533503.3:c.1952C>T, XM_011533503.2:c.1952C>T, XM_011533503.1:c.1952C>T, XM_011533504.3:c.1880C>T, XM_011533504.2:c.1880C>T, XM_011533504.1:c.1880C>T, NM_012298.3:c.1673C>T, NM_012298.2:c.1673C>T, NM_001162499.2:c.1952C>T, NM_001162499.1:c.1952C>T, XP_011531805.1:p.Ala651Val, XP_011531806.1:p.Ala627Val, NP_036430.1:p.Ala558Val, NP_001155971.1:p.Ala651Val

Select item 148334145814.

rs1483341458 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:12816404 (GRCh38)
3:12857903 (GRCh37)
Canonical SPDI:: NC_000003.12:12816403:G:A
Gene:: CAND2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000003.12:g.12816404G>A, NC_000003.11:g.12857903G>A, XM_011533503.3:c.1472G>A, XM_011533503.2:c.1472G>A, XM_011533503.1:c.1472G>A, XM_011533504.3:c.1400G>A, XM_011533504.2:c.1400G>A, XM_011533504.1:c.1400G>A, NM_012298.3:c.1193G>A, NM_012298.2:c.1193G>A, NM_001162499.2:c.1472G>A, NM_001162499.1:c.1472G>A, XP_011531805.1:p.Ser491Asn, XP_011531806.1:p.Ser467Asn, NP_036430.1:p.Ser398Asn, NP_001155971.1:p.Ser491Asn

Select item 148303399215.

rs1483033992 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:12815222 (GRCh38)
3:12856721 (GRCh37)
Canonical SPDI:: NC_000003.12:12815221:T:A
Gene:: CAND2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000003.12:g.12815222T>A, NC_000003.11:g.12856721T>A, XM_011533503.3:c.1088T>A, XM_011533503.2:c.1088T>A, XM_011533503.1:c.1088T>A, XM_011533504.3:c.1016T>A, XM_011533504.2:c.1016T>A, XM_011533504.1:c.1016T>A, NM_012298.3:c.809T>A, NM_012298.2:c.809T>A, NM_001162499.2:c.1088T>A, NM_001162499.1:c.1088T>A, XP_011531805.1:p.Ile363Asn, XP_011531806.1:p.Ile339Asn, NP_036430.1:p.Ile270Asn, NP_001155971.1:p.Ile363Asn

Select item 148296285716.

rs1482962857 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:12816411 (GRCh38)
3:12857910 (GRCh37)
Canonical SPDI:: NC_000003.12:12816410:C:A
Gene:: CAND2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000012/3 (GnomAD_exomes)
A=0.000019/5 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000003.12:g.12816411C>A, NC_000003.11:g.12857910C>A, XM_011533503.3:c.1479C>A, XM_011533503.2:c.1479C>A, XM_011533503.1:c.1479C>A, XM_011533504.3:c.1407C>A, XM_011533504.2:c.1407C>A, XM_011533504.1:c.1407C>A, NM_012298.3:c.1200C>A, NM_012298.2:c.1200C>A, NM_001162499.2:c.1479C>A, NM_001162499.1:c.1479C>A

Select item 147886633217.

rs1478866332 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:12825580 (GRCh38)
3:12867079 (GRCh37)
Canonical SPDI:: NC_000003.12:12825579:G:T
Gene:: CAND2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.12825580G>T, NC_000003.11:g.12867079G>T, XM_011533503.3:c.3151G>T, XM_011533503.2:c.3151G>T, XM_011533503.1:c.3151G>T, XM_011533504.3:c.3079G>T, XM_011533504.2:c.3079G>T, XM_011533504.1:c.3079G>T, NM_012298.3:c.2800G>T, NM_012298.2:c.2800G>T, NM_001162499.2:c.3151G>T, NM_001162499.1:c.3151G>T, XP_011531805.1:p.Asp1051Tyr, XP_011531806.1:p.Asp1027Tyr, NP_036430.1:p.Asp934Tyr, NP_001155971.1:p.Asp1051Tyr

Select item 147718675218.

rs1477186752 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 3:12827476 (GRCh38)
3:12868975 (GRCh37)
Canonical SPDI:: NC_000003.12:12827475:GGG:GG
Gene:: CAND2 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
HGVS:: NC_000003.12:g.12827478del, NC_000003.11:g.12868977del, XM_011533503.3:c.3249del, XM_011533503.2:c.3249del, XM_011533503.1:c.3249del, XM_011533504.3:c.3177del, XM_011533504.2:c.3177del, XM_011533504.1:c.3177del, NM_012298.3:c.2898del, NM_012298.2:c.2898del, NM_001162499.2:c.3249del, NM_001162499.1:c.3249del, XP_011531805.1:p.Leu1084fs, XP_011531806.1:p.Leu1060fs, NP_036430.1:p.Leu967fs, NP_001155971.1:p.Leu1084fs

Select item 147559729319.

rs1475597293 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:12817081 (GRCh38)
3:12858580 (GRCh37)
Canonical SPDI:: NC_000003.12:12817080:T:C
Gene:: CAND2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.12817081T>C, NC_000003.11:g.12858580T>C, XM_011533503.3:c.2149T>C, XM_011533503.2:c.2149T>C, XM_011533503.1:c.2149T>C, XM_011533504.3:c.2077T>C, XM_011533504.2:c.2077T>C, XM_011533504.1:c.2077T>C, NM_012298.3:c.1870T>C, NM_012298.2:c.1870T>C, NM_001162499.2:c.2149T>C, NM_001162499.1:c.2149T>C, XP_011531805.1:p.Phe717Leu, XP_011531806.1:p.Phe693Leu, NP_036430.1:p.Phe624Leu, NP_001155971.1:p.Phe717Leu

Select item 147531002120.

rs1475310021 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:12816860 (GRCh38)
3:12858359 (GRCh37)
Canonical SPDI:: NC_000003.12:12816859:A:G
Gene:: CAND2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.12816860A>G, NC_000003.11:g.12858359A>G, XM_011533503.3:c.1928A>G, XM_011533503.2:c.1928A>G, XM_011533503.1:c.1928A>G, XM_011533504.3:c.1856A>G, XM_011533504.2:c.1856A>G, XM_011533504.1:c.1856A>G, NM_012298.3:c.1649A>G, NM_012298.2:c.1649A>G, NM_001162499.2:c.1928A>G, NM_001162499.1:c.1928A>G, XP_011531805.1:p.Gln643Arg, XP_011531806.1:p.Gln619Arg, NP_036430.1:p.Gln550Arg, NP_001155971.1:p.Gln643Arg

dbSNP

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