SNP Links for Protein (Select 5032023) - SNP

Links from Protein

Items: 1 to 20 of 168

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Select item 14857670851.

rs1485767085 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:45177397 (GRCh38)
7:45216996 (GRCh37)
Canonical SPDI:: NC_000007.14:45177396:C:A,NC_000007.14:45177396:C:T
Gene:: RAMP3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000007.14:g.45177397C>A, NC_000007.14:g.45177397C>T, NC_000007.13:g.45216996C>A, NC_000007.13:g.45216996C>T, XM_006715631.4:c.480C>A, XM_006715631.4:c.480C>T, XM_006715631.3:c.480C>A, XM_006715631.3:c.480C>T, XM_006715631.2:c.480C>A, XM_006715631.2:c.480C>T, XM_006715631.1:c.480C>A, XM_006715631.1:c.480C>T, NM_005856.3:c.147C>A, NM_005856.3:c.147C>T, NM_005856.2:c.147C>A, NM_005856.2:c.147C>T

Select item 14782250622.

rs1478225062 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:45183278 (GRCh38)
7:45222877 (GRCh37)
Canonical SPDI:: NC_000007.14:45183277:A:T
Gene:: RAMP3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.45183278A>T, NC_000007.13:g.45222877A>T, XM_006715631.4:c.646A>T, XM_006715631.3:c.646A>T, XM_006715631.2:c.646A>T, XM_006715631.1:c.646A>T, NM_005856.3:c.313A>T, NM_005856.2:c.313A>T, XP_006715694.1:p.Thr216Ser, NP_005847.1:p.Thr105Ser

Select item 14663024203.

rs1466302420 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:45177344 (GRCh38)
7:45216943 (GRCh37)
Canonical SPDI:: NC_000007.14:45177343:G:A
Gene:: RAMP3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.45177344G>A, NC_000007.13:g.45216943G>A, XM_006715631.4:c.427G>A, XM_006715631.3:c.427G>A, XM_006715631.2:c.427G>A, XM_006715631.1:c.427G>A, NM_005856.3:c.94G>A, NM_005856.2:c.94G>A, XP_006715694.1:p.Gly143Ser, NP_005847.1:p.Gly32Ser

Select item 14520080214.

rs1452008021 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTTATACCCGTCGTTCTGAC>- [Show Flanks]
Chromosome:: 7:45183335 (GRCh38)
7:45222934 (GRCh37)
Canonical SPDI:: NC_000007.14:45183333:CGTTATACCCGTCGTTCTGAC:C
Gene:: RAMP3 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.45183335_45183354del, NC_000007.13:g.45222934_45222953del, XM_006715631.4:c.703_722del, XM_006715631.3:c.703_722del, XM_006715631.2:c.703_722del, XM_006715631.1:c.703_722del, NM_005856.3:c.370_389del, NM_005856.2:c.370_389del, XP_006715694.1:p.Val235fs, NP_005847.1:p.Val124fs

Select item 14475060875.

rs1447506087 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 7:45157855 (GRCh38)
7:45197454 (GRCh37)
Canonical SPDI:: NC_000007.14:45157854:G:A,NC_000007.14:45157854:G:C,NC_000007.14:45157854:G:T
Gene:: RAMP3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000054/1 (ALFA)
C=0.000004/1 (TOPMED)
T=0.000223/1 (Estonian)
HGVS:: NC_000007.14:g.45157855G>A, NC_000007.14:g.45157855G>C, NC_000007.14:g.45157855G>T, NC_000007.13:g.45197454G>A, NC_000007.13:g.45197454G>C, NC_000007.13:g.45197454G>T, XM_006715631.4:c.27G>A, XM_006715631.4:c.27G>C, XM_006715631.4:c.27G>T, XM_006715631.3:c.27G>A, XM_006715631.3:c.27G>C, XM_006715631.3:c.27G>T, XM_006715631.2:c.27G>A, XM_006715631.2:c.27G>C, XM_006715631.2:c.27G>T, XM_006715631.1:c.27G>A, XM_006715631.1:c.27G>C, XM_006715631.1:c.27G>T, NM_005856.3:c.27G>A, NM_005856.3:c.27G>C, NM_005856.3:c.27G>T, NM_005856.2:c.27G>A, NM_005856.2:c.27G>C, NM_005856.2:c.27G>T

Select item 14449234996.

rs1444923499 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:45177391 (GRCh38)
7:45216990 (GRCh37)
Canonical SPDI:: NC_000007.14:45177390:G:A
Gene:: RAMP3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.45177391G>A, NC_000007.13:g.45216990G>A, XM_006715631.4:c.474G>A, XM_006715631.3:c.474G>A, XM_006715631.2:c.474G>A, XM_006715631.1:c.474G>A, NM_005856.3:c.141G>A, NM_005856.2:c.141G>A, XP_006715694.1:p.Met158Ile, NP_005847.1:p.Met47Ile

Select item 14403328447.

rs1440332844 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 7:45183393 (GRCh38)
7:45222992 (GRCh37)
Canonical SPDI:: NC_000007.14:45183392:G:A,NC_000007.14:45183392:G:T
Gene:: RAMP3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.45183393G>A, NC_000007.14:g.45183393G>T, NC_000007.13:g.45222992G>A, NC_000007.13:g.45222992G>T, XM_006715631.4:c.761G>A, XM_006715631.4:c.761G>T, XM_006715631.3:c.761G>A, XM_006715631.3:c.761G>T, XM_006715631.2:c.761G>A, XM_006715631.2:c.761G>T, XM_006715631.1:c.761G>A, XM_006715631.1:c.761G>T, NM_005856.3:c.428G>A, NM_005856.3:c.428G>T, NM_005856.2:c.428G>A, NM_005856.2:c.428G>T, XP_006715694.1:p.Arg254His, XP_006715694.1:p.Arg254Leu, NP_005847.1:p.Arg143His, NP_005847.1:p.Arg143Leu

Select item 14376770048.

rs1437677004 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:45183336 (GRCh38)
7:45222935 (GRCh37)
Canonical SPDI:: NC_000007.14:45183335:T:C
Gene:: RAMP3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000007.14:g.45183336T>C, NC_000007.13:g.45222935T>C, XM_006715631.4:c.704T>C, XM_006715631.3:c.704T>C, XM_006715631.2:c.704T>C, XM_006715631.1:c.704T>C, NM_005856.3:c.371T>C, NM_005856.2:c.371T>C, XP_006715694.1:p.Val235Ala, NP_005847.1:p.Val124Ala

Select item 14332329389.

rs1433232938 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:45157845 (GRCh38)
7:45197444 (GRCh37)
Canonical SPDI:: NC_000007.14:45157844:T:C
Gene:: RAMP3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000007.14:g.45157845T>C, NC_000007.13:g.45197444T>C, XM_006715631.4:c.17T>C, XM_006715631.3:c.17T>C, XM_006715631.2:c.17T>C, XM_006715631.1:c.17T>C, NM_005856.3:c.17T>C, NM_005856.2:c.17T>C, XP_006715694.1:p.Leu6Pro, NP_005847.1:p.Leu6Pro

Select item 142693440710.

rs1426934407 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:45183198 (GRCh38)
7:45222797 (GRCh37)
Canonical SPDI:: NC_000007.14:45183197:A:G
Gene:: RAMP3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000067/2 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.45183198A>G, NC_000007.13:g.45222797A>G, XM_006715631.4:c.566A>G, XM_006715631.3:c.566A>G, XM_006715631.2:c.566A>G, XM_006715631.1:c.566A>G, NM_005856.3:c.233A>G, NM_005856.2:c.233A>G, XP_006715694.1:p.Asn189Ser, NP_005847.1:p.Asn78Ser

Select item 141468743111.

rs1414687431 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 7:45183199 (GRCh38)
7:45222798 (GRCh37)
Canonical SPDI:: NC_000007.14:45183198:T:A,NC_000007.14:45183198:T:C
Gene:: RAMP3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.45183199T>A, NC_000007.14:g.45183199T>C, NC_000007.13:g.45222798T>A, NC_000007.13:g.45222798T>C, XM_006715631.4:c.567T>A, XM_006715631.4:c.567T>C, XM_006715631.3:c.567T>A, XM_006715631.3:c.567T>C, XM_006715631.2:c.567T>A, XM_006715631.2:c.567T>C, XM_006715631.1:c.567T>A, XM_006715631.1:c.567T>C, NM_005856.3:c.234T>A, NM_005856.3:c.234T>C, NM_005856.2:c.234T>A, NM_005856.2:c.234T>C, XP_006715694.1:p.Asn189Lys, NP_005847.1:p.Asn78Lys

Select item 140314795112.

rs1403147951 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:45157848 (GRCh38)
7:45197447 (GRCh37)
Canonical SPDI:: NC_000007.14:45157847:G:A
Gene:: RAMP3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000007.14:g.45157848G>A, NC_000007.13:g.45197447G>A, XM_006715631.4:c.20G>A, XM_006715631.3:c.20G>A, XM_006715631.2:c.20G>A, XM_006715631.1:c.20G>A, NM_005856.3:c.20G>A, NM_005856.2:c.20G>A, XP_006715694.1:p.Arg7Gln, NP_005847.1:p.Arg7Gln

Select item 139492642913.

rs1394926429 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:45157844 (GRCh38)
7:45197443 (GRCh37)
Canonical SPDI:: NC_000007.14:45157843:C:A
Gene:: RAMP3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000007.14:g.45157844C>A, NC_000007.13:g.45197443C>A, XM_006715631.4:c.16C>A, XM_006715631.3:c.16C>A, XM_006715631.2:c.16C>A, XM_006715631.1:c.16C>A, NM_005856.3:c.16C>A, NM_005856.2:c.16C>A, XP_006715694.1:p.Leu6Met, NP_005847.1:p.Leu6Met

Select item 139446218714.

rs1394462187 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 7:45183408 (GRCh38)
7:45223007 (GRCh37)
Canonical SPDI:: NC_000007.14:45183407:T:A,NC_000007.14:45183407:T:C
Gene:: RAMP3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
C=0.000035/1 (TOMMO)
HGVS:: NC_000007.14:g.45183408T>A, NC_000007.14:g.45183408T>C, NC_000007.13:g.45223007T>A, NC_000007.13:g.45223007T>C, XM_006715631.4:c.776T>A, XM_006715631.4:c.776T>C, XM_006715631.3:c.776T>A, XM_006715631.3:c.776T>C, XM_006715631.2:c.776T>A, XM_006715631.2:c.776T>C, XM_006715631.1:c.776T>A, XM_006715631.1:c.776T>C, NM_005856.3:c.443T>A, NM_005856.3:c.443T>C, NM_005856.2:c.443T>A, NM_005856.2:c.443T>C, XP_006715694.1:p.Leu259Gln, XP_006715694.1:p.Leu259Pro, NP_005847.1:p.Leu148Gln, NP_005847.1:p.Leu148Pro

Select item 139374485515.

rs1393744855 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:45177373 (GRCh38)
7:45216972 (GRCh37)
Canonical SPDI:: NC_000007.14:45177372:G:A
Gene:: RAMP3 (Varview)
Functional Consequence:: synonymous_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_000007.14:g.45177373G>A, NC_000007.13:g.45216972G>A, XM_006715631.4:c.456G>A, XM_006715631.3:c.456G>A, XM_006715631.2:c.456G>A, XM_006715631.1:c.456G>A, NM_005856.3:c.123G>A, NM_005856.2:c.123G>A

Select item 138404891016.

rs1384048910 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:45177360 (GRCh38)
7:45216959 (GRCh37)
Canonical SPDI:: NC_000007.14:45177359:T:C
Gene:: RAMP3 (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)
HGVS:: NC_000007.14:g.45177360T>C, NC_000007.13:g.45216959T>C, XM_006715631.4:c.443T>C, XM_006715631.3:c.443T>C, XM_006715631.2:c.443T>C, XM_006715631.1:c.443T>C, NM_005856.3:c.110T>C, NM_005856.2:c.110T>C, XP_006715694.1:p.Leu148Pro, NP_005847.1:p.Leu37Pro

Select item 137891434317.

rs1378914343 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:45183400 (GRCh38)
7:45222999 (GRCh37)
Canonical SPDI:: NC_000007.14:45183399:C:A
Gene:: RAMP3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000094/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.45183400C>A, NC_000007.13:g.45222999C>A, XM_006715631.4:c.768C>A, XM_006715631.3:c.768C>A, XM_006715631.2:c.768C>A, XM_006715631.1:c.768C>A, NM_005856.3:c.435C>A, NM_005856.2:c.435C>A, XP_006715694.1:p.Asp256Glu, NP_005847.1:p.Asp145Glu

Select item 137510300518.

rs1375103005 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:45183405 (GRCh38)
7:45223004 (GRCh37)
Canonical SPDI:: NC_000007.14:45183404:T:C
Gene:: RAMP3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.45183405T>C, NC_000007.13:g.45223004T>C, XM_006715631.4:c.773T>C, XM_006715631.3:c.773T>C, XM_006715631.2:c.773T>C, XM_006715631.1:c.773T>C, NM_005856.3:c.440T>C, NM_005856.2:c.440T>C, XP_006715694.1:p.Leu258Pro, NP_005847.1:p.Leu147Pro

Select item 137496830819.

rs1374968308 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 7:45177340 (GRCh38)
7:45216939 (GRCh37)
Canonical SPDI:: NC_000007.14:45177339:G:A,NC_000007.14:45177339:G:C
Gene:: RAMP3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.45177340G>A, NC_000007.14:g.45177340G>C, NC_000007.13:g.45216939G>A, NC_000007.13:g.45216939G>C, XM_006715631.4:c.423G>A, XM_006715631.4:c.423G>C, XM_006715631.3:c.423G>A, XM_006715631.3:c.423G>C, XM_006715631.2:c.423G>A, XM_006715631.2:c.423G>C, XM_006715631.1:c.423G>A, XM_006715631.1:c.423G>C, NM_005856.3:c.90G>A, NM_005856.3:c.90G>C, NM_005856.2:c.90G>A, NM_005856.2:c.90G>C, XP_006715694.1:p.Glu141Asp, NP_005847.1:p.Glu30Asp

Select item 136729961120.

rs1367299611 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:45183284 (GRCh38)
7:45222883 (GRCh37)
Canonical SPDI:: NC_000007.14:45183283:G:T
Gene:: RAMP3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.45183284G>T, NC_000007.13:g.45222883G>T, XM_006715631.4:c.652G>T, XM_006715631.3:c.652G>T, XM_006715631.2:c.652G>T, XM_006715631.1:c.652G>T, NM_005856.3:c.319G>T, NM_005856.2:c.319G>T, XP_006715694.1:p.Asp218Tyr, NP_005847.1:p.Asp107Tyr

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