SNP Links for Protein (Select 154448890) - SNP

Links from Protein

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Select item 14896847931.

rs1489684793 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:214776 (GRCh38)
18:214776 (GRCh37)
Canonical SPDI:: NC_000018.10:214775:G:A
Gene:: USP14 (Varview), THOC1 (Varview)
Functional Consequence:: 500B_downstream_variant,synonymous_variant,downstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.214776G>A, NC_000018.9:g.214776G>A, XM_011525772.4:c.1845C>T, XM_011525772.3:c.1845C>T, XM_011525772.2:c.1845C>T, XM_011525772.1:c.1845C>T, NM_005131.3:c.1824C>T, NM_005131.2:c.1824C>T, XM_011525774.2:c.924C>T, XM_011525774.1:c.924C>T, XM_047437972.1:c.1431C>T

Select item 14879045202.

rs1487904520 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:260186 (GRCh38)
18:260186 (GRCh37)
Canonical SPDI:: NC_000018.10:260185:T:C
Gene:: THOC1 (Varview)
Functional Consequence:: synonymous_variant,5_prime_UTR_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.260186T>C, NC_000018.9:g.260186T>C, XM_011525772.4:c.375A>G, XM_011525772.3:c.375A>G, XM_011525772.2:c.375A>G, XM_011525772.1:c.375A>G, NM_005131.3:c.375A>G, NM_005131.2:c.375A>G, XM_017026104.2:c.375A>G, XM_017026104.1:c.375A>G, XM_047437972.1:c.-40A>G

Select item 14874489663.

rs1487448966 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:246418 (GRCh38)
18:246418 (GRCh37)
Canonical SPDI:: NC_000018.10:246417:T:C
Gene:: THOC1 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000018.10:g.246418T>C, NC_000018.9:g.246418T>C, XM_011525772.4:c.824A>G, XM_011525772.3:c.824A>G, XM_011525772.2:c.824A>G, XM_011525772.1:c.824A>G, NM_005131.3:c.824A>G, NM_005131.2:c.824A>G, XM_017026104.2:c.824A>G, XM_017026104.1:c.824A>G, XM_047437972.1:c.410A>G, XP_011524074.1:p.Lys275Arg, NP_005122.2:p.Lys275Arg, XP_016881593.1:p.Lys275Arg, XP_047293928.1:p.Lys137Arg

Select item 14868623974.

rs1486862397 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:254284 (GRCh38)
18:254284 (GRCh37)
Canonical SPDI:: NC_000018.10:254283:G:A
Gene:: THOC1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant
HGVS:: NC_000018.10:g.254284G>A, NC_000018.9:g.254284G>A, XM_011525772.4:c.592C>T, XM_011525772.3:c.592C>T, XM_011525772.2:c.592C>T, XM_011525772.1:c.592C>T, NM_005131.3:c.592C>T, NM_005131.2:c.592C>T, XM_017026104.2:c.592C>T, XM_017026104.1:c.592C>T, XM_047437972.1:c.178C>T

Select item 14866667635.

rs1486666763 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 18:214687 (GRCh38)
18:214687 (GRCh37)
Canonical SPDI:: NC_000018.10:214686:T:C,NC_000018.10:214686:T:G
Gene:: USP14 (Varview), THOC1 (Varview)
Functional Consequence:: 500B_downstream_variant,missense_variant,downstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000051/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000018.10:g.214687T>C, NC_000018.10:g.214687T>G, NC_000018.9:g.214687T>C, NC_000018.9:g.214687T>G, XM_011525772.4:c.1934A>G, XM_011525772.4:c.1934A>C, XM_011525772.3:c.1934A>G, XM_011525772.3:c.1934A>C, XM_011525772.2:c.1934A>G, XM_011525772.2:c.1934A>C, XM_011525772.1:c.1934A>G, XM_011525772.1:c.1934A>C, NM_005131.3:c.1913A>G, NM_005131.3:c.1913A>C, NM_005131.2:c.1913A>G, NM_005131.2:c.1913A>C, XM_011525774.2:c.1013A>G, XM_011525774.2:c.1013A>C, XM_011525774.1:c.1013A>G, XM_011525774.1:c.1013A>C, XM_047437972.1:c.1520A>G, XM_047437972.1:c.1520A>C, XP_011524074.1:p.Asn645Ser, XP_011524074.1:p.Asn645Thr, NP_005122.2:p.Asn638Ser, NP_005122.2:p.Asn638Thr, XP_011524076.1:p.Asn338Ser, XP_011524076.1:p.Asn338Thr, XP_047293928.1:p.Asn507Ser, XP_047293928.1:p.Asn507Thr

Select item 14859638716.

rs1485963871 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:264074 (GRCh38)
18:264074 (GRCh37)
Canonical SPDI:: NC_000018.10:264073:C:T
Gene:: THOC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.264074C>T, NC_000018.9:g.264074C>T, XM_011525772.4:c.208G>A, XM_011525772.3:c.208G>A, XM_011525772.2:c.208G>A, XM_011525772.1:c.208G>A, NM_005131.3:c.208G>A, NM_005131.2:c.208G>A, XM_017026104.2:c.208G>A, XM_017026104.1:c.208G>A, XP_011524074.1:p.Glu70Lys, NP_005122.2:p.Glu70Lys, XP_016881593.1:p.Glu70Lys

Select item 14829692447.

rs1482969244 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:216627 (GRCh38)
18:216627 (GRCh37)
Canonical SPDI:: NC_000018.10:216626:C:T
Gene:: THOC1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000018.10:g.216627C>T, NC_000018.9:g.216627C>T, XM_011525772.4:c.1482G>A, XM_011525772.3:c.1482G>A, XM_011525772.2:c.1482G>A, XM_011525772.1:c.1482G>A, NM_005131.3:c.1461G>A, NM_005131.2:c.1461G>A, XM_011525774.2:c.561G>A, XM_011525774.1:c.561G>A, XM_047437972.1:c.1068G>A

Select item 14810722138.

rs1481072213 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 18:214789 (GRCh38)
18:214789 (GRCh37)
Canonical SPDI:: NC_000018.10:214788:C:G,NC_000018.10:214788:C:T
Gene:: USP14 (Varview), THOC1 (Varview)
Functional Consequence:: 500B_downstream_variant,missense_variant,downstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000051/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000018.10:g.214789C>G, NC_000018.10:g.214789C>T, NC_000018.9:g.214789C>G, NC_000018.9:g.214789C>T, XM_011525772.4:c.1832G>C, XM_011525772.4:c.1832G>A, XM_011525772.3:c.1832G>C, XM_011525772.3:c.1832G>A, XM_011525772.2:c.1832G>C, XM_011525772.2:c.1832G>A, XM_011525772.1:c.1832G>C, XM_011525772.1:c.1832G>A, NM_005131.3:c.1811G>C, NM_005131.3:c.1811G>A, NM_005131.2:c.1811G>C, NM_005131.2:c.1811G>A, XM_011525774.2:c.911G>C, XM_011525774.2:c.911G>A, XM_011525774.1:c.911G>C, XM_011525774.1:c.911G>A, XM_047437972.1:c.1418G>C, XM_047437972.1:c.1418G>A, XP_011524074.1:p.Cys611Ser, XP_011524074.1:p.Cys611Tyr, NP_005122.2:p.Cys604Ser, NP_005122.2:p.Cys604Tyr, XP_011524076.1:p.Cys304Ser, XP_011524076.1:p.Cys304Tyr, XP_047293928.1:p.Cys473Ser, XP_047293928.1:p.Cys473Tyr

Select item 14803343849.

rs1480334384 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 18:214693 (GRCh38)
18:214693 (GRCh37)
Canonical SPDI:: NC_000018.10:214692:G:C
Gene:: USP14 (Varview), THOC1 (Varview)
Functional Consequence:: 500B_downstream_variant,missense_variant,downstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.214693G>C, NC_000018.9:g.214693G>C, XM_011525772.4:c.1928C>G, XM_011525772.3:c.1928C>G, XM_011525772.2:c.1928C>G, XM_011525772.1:c.1928C>G, NM_005131.3:c.1907C>G, NM_005131.2:c.1907C>G, XM_011525774.2:c.1007C>G, XM_011525774.1:c.1007C>G, XM_047437972.1:c.1514C>G, XP_011524074.1:p.Ala643Gly, NP_005122.2:p.Ala636Gly, XP_011524076.1:p.Ala336Gly, XP_047293928.1:p.Ala505Gly

Select item 147875484710.

rs1478754847 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 18:226886 (GRCh38)
18:226886 (GRCh37)
Canonical SPDI:: NC_000018.10:226885:G:A,NC_000018.10:226885:G:C
Gene:: THOC1 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000085/3 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.226886G>A, NC_000018.10:g.226886G>C, NC_000018.9:g.226886G>A, NC_000018.9:g.226886G>C, XM_011525772.4:c.934C>T, XM_011525772.4:c.934C>G, XM_011525772.3:c.934C>T, XM_011525772.3:c.934C>G, XM_011525772.2:c.934C>T, XM_011525772.2:c.934C>G, XM_011525772.1:c.934C>T, XM_011525772.1:c.934C>G, NM_005131.3:c.934C>T, NM_005131.3:c.934C>G, NM_005131.2:c.934C>T, NM_005131.2:c.934C>G, XM_011525774.2:c.13C>T, XM_011525774.2:c.13C>G, XM_011525774.1:c.13C>T, XM_011525774.1:c.13C>G, XM_047437972.1:c.520C>T, XM_047437972.1:c.520C>G, XP_011524074.1:p.Leu312Val, NP_005122.2:p.Leu312Val, XP_011524076.1:p.Leu5Val, XP_047293928.1:p.Leu174Val

Select item 147553810911.

rs1475538109 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 18:224946 (GRCh38)
18:224946 (GRCh37)
Canonical SPDI:: NC_000018.10:224945:A:C
Gene:: THOC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000084/1 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000018.10:g.224946A>C, NC_000018.9:g.224946A>C, XM_011525772.4:c.1186T>G, XM_011525772.3:c.1186T>G, XM_011525772.2:c.1186T>G, XM_011525772.1:c.1186T>G, NM_005131.3:c.1186T>G, NM_005131.2:c.1186T>G, XM_011525774.2:c.265T>G, XM_011525774.1:c.265T>G, XM_047437972.1:c.772T>G, XP_011524074.1:p.Cys396Gly, NP_005122.2:p.Cys396Gly, XP_011524076.1:p.Cys89Gly, XP_047293928.1:p.Cys258Gly

Select item 147551947612.

rs1475519476 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:252611 (GRCh38)
18:252611 (GRCh37)
Canonical SPDI:: NC_000018.10:252610:T:C
Gene:: THOC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000018.10:g.252611T>C, NC_000018.9:g.252611T>C, XM_011525772.4:c.605A>G, XM_011525772.3:c.605A>G, XM_011525772.2:c.605A>G, XM_011525772.1:c.605A>G, NM_005131.3:c.605A>G, NM_005131.2:c.605A>G, XM_017026104.2:c.605A>G, XM_017026104.1:c.605A>G, XM_047437972.1:c.191A>G, XP_011524074.1:p.His202Arg, NP_005122.2:p.His202Arg, XP_016881593.1:p.His202Arg, XP_047293928.1:p.His64Arg

Select item 147543435813.

rs1475434358 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:260214 (GRCh38)
18:260214 (GRCh37)
Canonical SPDI:: NC_000018.10:260213:A:G
Gene:: THOC1 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant,genic_upstream_transcript_variant
HGVS:: NC_000018.10:g.260214A>G, NC_000018.9:g.260214A>G, XM_011525772.4:c.347T>C, XM_011525772.3:c.347T>C, XM_011525772.2:c.347T>C, XM_011525772.1:c.347T>C, NM_005131.3:c.347T>C, NM_005131.2:c.347T>C, XM_017026104.2:c.347T>C, XM_017026104.1:c.347T>C, XM_047437972.1:c.-68T>C, XP_011524074.1:p.Val116Ala, NP_005122.2:p.Val116Ala, XP_016881593.1:p.Val116Ala

Select item 147468785814.

rs1474687858 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:225353 (GRCh38)
18:225353 (GRCh37)
Canonical SPDI:: NC_000018.10:225352:G:A
Gene:: THOC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_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_000018.10:g.225353G>A, NC_000018.9:g.225353G>A, XM_011525772.4:c.1070C>T, XM_011525772.3:c.1070C>T, XM_011525772.2:c.1070C>T, XM_011525772.1:c.1070C>T, NM_005131.3:c.1070C>T, NM_005131.2:c.1070C>T, XM_011525774.2:c.149C>T, XM_011525774.1:c.149C>T, XM_047437972.1:c.656C>T, XP_011524074.1:p.Thr357Ile, NP_005122.2:p.Thr357Ile, XP_011524076.1:p.Thr50Ile, XP_047293928.1:p.Thr219Ile

Select item 147407852015.

rs1474078520 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:259693 (GRCh38)
18:259693 (GRCh37)
Canonical SPDI:: NC_000018.10:259692:C:T
Gene:: THOC1 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000006/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.259693C>T, NC_000018.9:g.259693C>T, XM_011525772.4:c.413G>A, XM_011525772.3:c.413G>A, XM_011525772.2:c.413G>A, XM_011525772.1:c.413G>A, NM_005131.3:c.413G>A, NM_005131.2:c.413G>A, XM_017026104.2:c.413G>A, XM_017026104.1:c.413G>A, XM_047437972.1:c.-2G>A, XP_011524074.1:p.Arg138His, NP_005122.2:p.Arg138His, XP_016881593.1:p.Arg138His

Select item 147357381516.

rs1473573815 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 18:214813 (GRCh38)
18:214813 (GRCh37)
Canonical SPDI:: NC_000018.10:214812:T:G
Gene:: USP14 (Varview), THOC1 (Varview)
Functional Consequence:: 500B_downstream_variant,missense_variant,downstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.214813T>G, NC_000018.9:g.214813T>G, XM_011525772.4:c.1808A>C, XM_011525772.3:c.1808A>C, XM_011525772.2:c.1808A>C, XM_011525772.1:c.1808A>C, NM_005131.3:c.1787A>C, NM_005131.2:c.1787A>C, XM_011525774.2:c.887A>C, XM_011525774.1:c.887A>C, XM_047437972.1:c.1394A>C, XP_011524074.1:p.Asp603Ala, NP_005122.2:p.Asp596Ala, XP_011524076.1:p.Asp296Ala, XP_047293928.1:p.Asp465Ala

Select item 147282894217.

rs1472828942 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 18:254286 (GRCh38)
18:254286 (GRCh37)
Canonical SPDI:: NC_000018.10:254285:G:C
Gene:: THOC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.254286G>C, NC_000018.9:g.254286G>C, XM_011525772.4:c.590C>G, XM_011525772.3:c.590C>G, XM_011525772.2:c.590C>G, XM_011525772.1:c.590C>G, NM_005131.3:c.590C>G, NM_005131.2:c.590C>G, XM_017026104.2:c.590C>G, XM_017026104.1:c.590C>G, XM_047437972.1:c.176C>G, XP_011524074.1:p.Thr197Ser, NP_005122.2:p.Thr197Ser, XP_016881593.1:p.Thr197Ser, XP_047293928.1:p.Thr59Ser

Select item 147169583518.

rs1471695835 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 18:246387 (GRCh38)
18:246387 (GRCh37)
Canonical SPDI:: NC_000018.10:246386:C:G
Gene:: THOC1 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.246387C>G, NC_000018.9:g.246387C>G, XM_011525772.4:c.855G>C, XM_011525772.3:c.855G>C, XM_011525772.2:c.855G>C, XM_011525772.1:c.855G>C, NM_005131.3:c.855G>C, NM_005131.2:c.855G>C, XM_017026104.2:c.855G>C, XM_017026104.1:c.855G>C, XM_047437972.1:c.441G>C, XP_011524074.1:p.Lys285Asn, NP_005122.2:p.Lys285Asn, XP_016881593.1:p.Lys285Asn, XP_047293928.1:p.Lys147Asn

Select item 147143484419.

rs1471434844 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:214881 (GRCh38)
18:214881 (GRCh37)
Canonical SPDI:: NC_000018.10:214880:T:C
Gene:: USP14 (Varview), THOC1 (Varview)
Functional Consequence:: 500B_downstream_variant,synonymous_variant,downstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000015/4 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000018.10:g.214881T>C, NC_000018.9:g.214881T>C, XM_011525772.4:c.1740A>G, XM_011525772.3:c.1740A>G, XM_011525772.2:c.1740A>G, XM_011525772.1:c.1740A>G, NM_005131.3:c.1719A>G, NM_005131.2:c.1719A>G, XM_011525774.2:c.819A>G, XM_011525774.1:c.819A>G, XM_047437972.1:c.1326A>G

Select item 147117883020.

rs1471178830 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:260283 (GRCh38)
18:260283 (GRCh37)
Canonical SPDI:: NC_000018.10:260282:G:A
Gene:: THOC1 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.260283G>A, NC_000018.9:g.260283G>A, XM_011525772.4:c.278C>T, XM_011525772.3:c.278C>T, XM_011525772.2:c.278C>T, XM_011525772.1:c.278C>T, NM_005131.3:c.278C>T, NM_005131.2:c.278C>T, XM_017026104.2:c.278C>T, XM_017026104.1:c.278C>T, XM_047437972.1:c.-137C>T, XP_011524074.1:p.Pro93Leu, NP_005122.2:p.Pro93Leu, XP_016881593.1:p.Pro93Leu

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