SNP Links for Protein (Select 217035154) - SNP

Links from Protein

Items: 1 to 20 of 458

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Select item 14882168621.

rs1488216862 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:167683922 (GRCh38)
1:167653159 (GRCh37)
Canonical SPDI:: NC_000001.11:167683921:C:T
Gene:: RCSD1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.167683922C>T, NC_000001.10:g.167653159C>T, NM_052862.4:c.29C>T, NM_052862.3:c.29C>T, NM_001322923.2:c.29C>T, NM_001322923.1:c.29C>T, NM_001322924.2:c.29C>T, NM_001322924.1:c.29C>T, NP_443094.3:p.Ala10Val, NP_001309852.1:p.Ala10Val, NP_001309853.1:p.Ala10Val

Select item 14862015132.

rs1486201513 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:167697578 (GRCh38)
1:167666815 (GRCh37)
Canonical SPDI:: NC_000001.11:167697577:G:A
Gene:: RCSD1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.167697578G>A, NC_000001.10:g.167666815G>A, NM_052862.4:c.954G>A, NM_052862.3:c.954G>A, NM_001322923.2:c.864G>A, NM_001322923.1:c.864G>A, NM_001322924.2:c.792G>A, NM_001322924.1:c.792G>A

Select item 14847319193.

rs1484731919 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CGCCAT [Show Flanks]
Chromosome:: 1:167694173 (GRCh38)
1:167663411 (GRCh37)
Canonical SPDI:: NC_000001.11:167694173:TCGCCAT:TCGCCATCGCCAT
Gene:: RCSD1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,inframe_insertion,coding_sequence_variant
Validated:: by frequency
MAF:: TCGCCA=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.167694175_167694180dup, NC_000001.10:g.167663412_167663417dup, NM_052862.4:c.347_352dup, NM_052862.3:c.347_352dup, NM_001322923.2:c.257_262dup, NM_001322923.1:c.257_262dup, NM_001322924.2:c.185_190dup, NM_001322924.1:c.185_190dup, NP_443094.3:p.Ser116_Pro117dup, NP_001309852.1:p.Ser86_Pro87dup, NP_001309853.1:p.Ser62_Pro63dup

Select item 14847022994.

rs1484702299 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:167683904 (GRCh38)
1:167653141 (GRCh37)
Canonical SPDI:: NC_000001.11:167683903:G:C
Gene:: RCSD1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.167683904G>C, NC_000001.10:g.167653141G>C, NM_052862.4:c.11G>C, NM_052862.3:c.11G>C, NM_001322923.2:c.11G>C, NM_001322923.1:c.11G>C, NM_001322924.2:c.11G>C, NM_001322924.1:c.11G>C, NP_443094.3:p.Arg4Thr, NP_001309852.1:p.Arg4Thr, NP_001309853.1:p.Arg4Thr

Select item 14841476855.

rs1484147685 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 1:167685421 (GRCh38)
1:167654658 (GRCh37)
Canonical SPDI:: NC_000001.11:167685420:A:C,NC_000001.11:167685420:A:G
Gene:: RCSD1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
C=0.001095/2 (Korea1K)
HGVS:: NC_000001.11:g.167685421A>C, NC_000001.11:g.167685421A>G, NC_000001.10:g.167654658A>C, NC_000001.10:g.167654658A>G, NM_052862.4:c.109A>C, NM_052862.4:c.109A>G, NM_052862.3:c.109A>C, NM_052862.3:c.109A>G, NP_443094.3:p.Thr37Pro, NP_443094.3:p.Thr37Ala

Select item 14831950946.

rs1483195094 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:167697441 (GRCh38)
1:167666678 (GRCh37)
Canonical SPDI:: NC_000001.11:167697440:G:A,NC_000001.11:167697440:G:C
Gene:: RCSD1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000012/3 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.167697441G>A, NC_000001.11:g.167697441G>C, NC_000001.10:g.167666678G>A, NC_000001.10:g.167666678G>C, NM_052862.4:c.817G>A, NM_052862.4:c.817G>C, NM_052862.3:c.817G>A, NM_052862.3:c.817G>C, NM_001322923.2:c.727G>A, NM_001322923.2:c.727G>C, NM_001322923.1:c.727G>A, NM_001322923.1:c.727G>C, NM_001322924.2:c.655G>A, NM_001322924.2:c.655G>C, NM_001322924.1:c.655G>A, NM_001322924.1:c.655G>C, NP_443094.3:p.Gly273Ser, NP_443094.3:p.Gly273Arg, NP_001309852.1:p.Gly243Ser, NP_001309852.1:p.Gly243Arg, NP_001309853.1:p.Gly219Ser, NP_001309853.1:p.Gly219Arg

Select item 14792919597.

rs1479291959 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:167697645 (GRCh38)
1:167666882 (GRCh37)
Canonical SPDI:: NC_000001.11:167697644:G:A
Gene:: RCSD1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.167697645G>A, NC_000001.10:g.167666882G>A, NM_052862.4:c.1021G>A, NM_052862.3:c.1021G>A, NM_001322923.2:c.931G>A, NM_001322923.1:c.931G>A, NM_001322924.2:c.859G>A, NM_001322924.1:c.859G>A, NP_443094.3:p.Glu341Lys, NP_001309852.1:p.Glu311Lys, NP_001309853.1:p.Glu287Lys

Select item 14785244558.

rs1478524455 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:167685426 (GRCh38)
1:167654663 (GRCh37)
Canonical SPDI:: NC_000001.11:167685425:A:G
Gene:: RCSD1 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.167685426A>G, NC_000001.10:g.167654663A>G, NM_052862.4:c.114A>G, NM_052862.3:c.114A>G

Select item 14782318419.

rs1478231841 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:167704676 (GRCh38)
1:167673913 (GRCh37)
Canonical SPDI:: NC_000001.11:167704675:G:C
Gene:: RCSD1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.167704676G>C, NC_000001.10:g.167673913G>C, NM_052862.4:c.1231G>C, NM_052862.3:c.1231G>C, NM_001322923.2:c.1141G>C, NM_001322923.1:c.1141G>C, NM_001322924.2:c.1069G>C, NM_001322924.1:c.1069G>C, NP_443094.3:p.Val411Leu, NP_001309852.1:p.Val381Leu, NP_001309853.1:p.Val357Leu

Select item 147790191710.

rs1477901917 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:167697397 (GRCh38)
1:167666634 (GRCh37)
Canonical SPDI:: NC_000001.11:167697396:C:T
Gene:: RCSD1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.167697397C>T, NC_000001.10:g.167666634C>T, NM_052862.4:c.773C>T, NM_052862.3:c.773C>T, NM_001322923.2:c.683C>T, NM_001322923.1:c.683C>T, NM_001322924.2:c.611C>T, NM_001322924.1:c.611C>T, NP_443094.3:p.Ala258Val, NP_001309852.1:p.Ala228Val, NP_001309853.1:p.Ala204Val

Select item 147600628111.

rs1476006281 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:167697289 (GRCh38)
1:167666526 (GRCh37)
Canonical SPDI:: NC_000001.11:167697288:G:A
Gene:: RCSD1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.167697289G>A, NC_000001.10:g.167666526G>A, NM_052862.4:c.665G>A, NM_052862.3:c.665G>A, NM_001322923.2:c.575G>A, NM_001322923.1:c.575G>A, NM_001322924.2:c.503G>A, NM_001322924.1:c.503G>A, NP_443094.3:p.Gly222Glu, NP_001309852.1:p.Gly192Glu, NP_001309853.1:p.Gly168Glu

Select item 147273424412.

rs1472734244 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:167690085 (GRCh38)
1:167659322 (GRCh37)
Canonical SPDI:: NC_000001.11:167690084:A:G
Gene:: RCSD1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000066/2 (ALFA)
G=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000001.11:g.167690085A>G, NC_000001.10:g.167659322A>G, NG_082232.1:g.936A>G, NM_052862.4:c.235A>G, NM_052862.3:c.235A>G, NM_001322923.2:c.145A>G, NM_001322923.1:c.145A>G, NP_443094.3:p.Lys79Glu, NP_001309852.1:p.Lys49Glu

Select item 146933381713.

rs1469333817 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:167697827 (GRCh38)
1:167667064 (GRCh37)
Canonical SPDI:: NC_000001.11:167697826:A:C
Gene:: RCSD1 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.00001/1 (GnomAD_exomes)
C=0.00014/2 (TOMMO)
C=0.00055/1 (Korea1K)
HGVS:: NC_000001.11:g.167697827A>C, NC_000001.10:g.167667064A>C, NM_052862.4:c.1203A>C, NM_052862.3:c.1203A>C, NM_001322923.2:c.1113A>C, NM_001322923.1:c.1113A>C, NM_001322924.2:c.1041A>C, NM_001322924.1:c.1041A>C

Select item 146889347514.

rs1468893475 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:167697591 (GRCh38)
1:167666828 (GRCh37)
Canonical SPDI:: NC_000001.11:167697590:C:G
Gene:: RCSD1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.167697591C>G, NC_000001.10:g.167666828C>G, NM_052862.4:c.967C>G, NM_052862.3:c.967C>G, NM_001322923.2:c.877C>G, NM_001322923.1:c.877C>G, NM_001322924.2:c.805C>G, NM_001322924.1:c.805C>G, NP_443094.3:p.Gln323Glu, NP_001309852.1:p.Gln293Glu, NP_001309853.1:p.Gln269Glu

Select item 146483905015.

rs1464839050 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:167683945 (GRCh38)
1:167653182 (GRCh37)
Canonical SPDI:: NC_000001.11:167683944:C:G
Gene:: RCSD1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000001.11:g.167683945C>G, NC_000001.10:g.167653182C>G, NM_052862.4:c.52C>G, NM_052862.3:c.52C>G, NM_001322923.2:c.52C>G, NM_001322923.1:c.52C>G, NM_001322924.2:c.52C>G, NM_001322924.1:c.52C>G, NP_443094.3:p.Pro18Ala, NP_001309852.1:p.Pro18Ala, NP_001309853.1:p.Pro18Ala

Select item 146347751116.

rs1463477511 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:167697571 (GRCh38)
1:167666808 (GRCh37)
Canonical SPDI:: NC_000001.11:167697570:A:G
Gene:: RCSD1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.167697571A>G, NC_000001.10:g.167666808A>G, NM_052862.4:c.947A>G, NM_052862.3:c.947A>G, NM_001322923.2:c.857A>G, NM_001322923.1:c.857A>G, NM_001322924.2:c.785A>G, NM_001322924.1:c.785A>G, NP_443094.3:p.Glu316Gly, NP_001309852.1:p.Glu286Gly, NP_001309853.1:p.Glu262Gly

Select item 146087881017.

rs1460878810 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:167697287 (GRCh38)
1:167666524 (GRCh37)
Canonical SPDI:: NC_000001.11:167697286:G:A
Gene:: RCSD1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.167697287G>A, NC_000001.10:g.167666524G>A, NM_052862.4:c.663G>A, NM_052862.3:c.663G>A, NM_001322923.2:c.573G>A, NM_001322923.1:c.573G>A, NM_001322924.2:c.501G>A, NM_001322924.1:c.501G>A

Select item 145907732018.

rs1459077320 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:167697379 (GRCh38)
1:167666616 (GRCh37)
Canonical SPDI:: NC_000001.11:167697378:A:G
Gene:: RCSD1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_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_000001.11:g.167697379A>G, NC_000001.10:g.167666616A>G, NM_052862.4:c.755A>G, NM_052862.3:c.755A>G, NM_001322923.2:c.665A>G, NM_001322923.1:c.665A>G, NM_001322924.2:c.593A>G, NM_001322924.1:c.593A>G, NP_443094.3:p.Asp252Gly, NP_001309852.1:p.Asp222Gly, NP_001309853.1:p.Asp198Gly

Select item 145706392619.

rs1457063926 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:167694269 (GRCh38)
1:167663506 (GRCh37)
Canonical SPDI:: NC_000001.11:167694268:C:G
Gene:: RCSD1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.167694269C>G, NC_000001.10:g.167663506C>G, NM_052862.4:c.441C>G, NM_052862.3:c.441C>G, NM_001322923.2:c.351C>G, NM_001322923.1:c.351C>G, NM_001322924.2:c.279C>G, NM_001322924.1:c.279C>G

Select item 145611176320.

rs1456111763 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:167697609 (GRCh38)
1:167666846 (GRCh37)
Canonical SPDI:: NC_000001.11:167697608:C:A,NC_000001.11:167697608:C:T
Gene:: RCSD1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.167697609C>A, NC_000001.11:g.167697609C>T, NC_000001.10:g.167666846C>A, NC_000001.10:g.167666846C>T, NM_052862.4:c.985C>A, NM_052862.4:c.985C>T, NM_052862.3:c.985C>A, NM_052862.3:c.985C>T, NM_001322923.2:c.895C>A, NM_001322923.2:c.895C>T, NM_001322923.1:c.895C>A, NM_001322923.1:c.895C>T, NM_001322924.2:c.823C>A, NM_001322924.2:c.823C>T, NM_001322924.1:c.823C>A, NM_001322924.1:c.823C>T, NP_443094.3:p.Pro329Thr, NP_443094.3:p.Pro329Ser, NP_001309852.1:p.Pro299Thr, NP_001309852.1:p.Pro299Ser, NP_001309853.1:p.Pro275Thr, NP_001309853.1:p.Pro275Ser

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