SNP Links for Protein (Select 974005217) - SNP

Links from Protein

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Select item 14908175761.

rs1490817576 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:106621462 (GRCh38)
6:107069337 (GRCh37)
Canonical SPDI:: NC_000006.12:106621461:C:T
Gene:: RTN4IP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.106621462C>T, NC_000006.11:g.107069337C>T, NG_047205.1:g.14039G>A, NM_032730.5:c.458G>A, NM_032730.4:c.458G>A, NM_001318746.1:c.158G>A, XM_017011376.3:c.458G>A, XM_017011376.2:c.458G>A, XM_017011376.1:c.458G>A, XM_011536192.3:c.218G>A, XM_011536192.2:c.218G>A, XM_011536192.1:c.218G>A, NP_116119.2:p.Gly153Asp, NP_001305675.1:p.Gly53Asp, XP_016866865.1:p.Gly153Asp, XP_011534494.1:p.Gly73Asp

Select item 14795513942.

rs1479551394 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:106602883 (GRCh38)
6:107050758 (GRCh37)
Canonical SPDI:: NC_000006.12:106602882:A:G
Gene:: RTN4IP1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000006.12:g.106602883A>G, NC_000006.11:g.107050758A>G, NG_047205.1:g.32618T>C, NM_032730.5:c.660T>C, NM_032730.4:c.660T>C, NM_001318746.1:c.360T>C, XM_017011376.3:c.660T>C, XM_017011376.2:c.660T>C, XM_017011376.1:c.660T>C, XM_011536192.3:c.420T>C, XM_011536192.2:c.420T>C, XM_011536192.1:c.420T>C

Select item 14785186373.

rs1478518637 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:106592215 (GRCh38)
6:107040090 (GRCh37)
Canonical SPDI:: NC_000006.12:106592214:A:G
Gene:: RTN4IP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.106592215A>G, NC_000006.11:g.107040090A>G, NG_047205.1:g.43286T>C, NM_032730.5:c.755T>C, NM_032730.4:c.755T>C, NM_001318746.1:c.455T>C, XM_017011376.3:c.755T>C, XM_017011376.2:c.755T>C, XM_017011376.1:c.755T>C, XM_011536192.3:c.515T>C, XM_011536192.2:c.515T>C, XM_011536192.1:c.515T>C, NP_116119.2:p.Val252Ala, NP_001305675.1:p.Val152Ala, XP_016866865.1:p.Val252Ala, XP_011534494.1:p.Val172Ala

Select item 14631138034.

rs1463113803 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 6:106619281 (GRCh38)
6:107067156 (GRCh37)
Canonical SPDI:: NC_000006.12:106619279:AAA:A
Gene:: RTN4IP1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.106619281_106619282del, NC_000006.11:g.107067156_107067157del, NG_047205.1:g.16220_16221del, NM_032730.5:c.541_542del, NM_032730.4:c.541_542del, NM_001318746.1:c.241_242del, XM_017011376.3:c.541_542del, XM_017011376.2:c.541_542del, XM_017011376.1:c.541_542del, XM_011536192.3:c.301_302del, XM_011536192.2:c.301_302del, XM_011536192.1:c.301_302del, NP_116119.2:p.Leu181fs, NP_001305675.1:p.Leu81fs, XP_016866865.1:p.Leu181fs, XP_011534494.1:p.Leu101fs

Select item 14606817685.

rs1460681768 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:106619228 (GRCh38)
6:107067103 (GRCh37)
Canonical SPDI:: NC_000006.12:106619227:C:A
Gene:: RTN4IP1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.106619228C>A, NC_000006.11:g.107067103C>A, NG_047205.1:g.16273G>T, NM_032730.5:c.594G>T, NM_032730.4:c.594G>T, NM_001318746.1:c.294G>T, XM_017011376.3:c.594G>T, XM_017011376.2:c.594G>T, XM_017011376.1:c.594G>T, XM_011536192.3:c.354G>T, XM_011536192.2:c.354G>T, XM_011536192.1:c.354G>T

Select item 14604280206.

rs1460428020 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:106587744 (GRCh38)
6:107035619 (GRCh37)
Canonical SPDI:: NC_000006.12:106587743:C:A,NC_000006.12:106587743:C:T
Gene:: RTN4IP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.106587744C>A, NC_000006.12:g.106587744C>T, NC_000006.11:g.107035619C>A, NC_000006.11:g.107035619C>T, NG_047205.1:g.47757G>T, NG_047205.1:g.47757G>A, NM_032730.5:c.925G>T, NM_032730.5:c.925G>A, NM_032730.4:c.925G>T, NM_032730.4:c.925G>A, NM_001318746.1:c.625G>T, NM_001318746.1:c.625G>A, XM_011536192.3:c.685G>T, XM_011536192.3:c.685G>A, XM_011536192.2:c.685G>T, XM_011536192.2:c.685G>A, XM_011536192.1:c.685G>T, XM_011536192.1:c.685G>A, NP_116119.2:p.Asp309Tyr, NP_116119.2:p.Asp309Asn, NP_001305675.1:p.Asp209Tyr, NP_001305675.1:p.Asp209Asn, XP_011534494.1:p.Asp229Tyr, XP_011534494.1:p.Asp229Asn

Select item 14537839617.

rs1453783961 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:106583410 (GRCh38)
6:107031285 (GRCh37)
Canonical SPDI:: NC_000006.12:106583409:T:C
Gene:: RTN4IP1 (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=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.106583410T>C, NC_000006.11:g.107031285T>C, NG_047205.1:g.52091A>G, NM_032730.5:c.1001A>G, NM_032730.4:c.1001A>G, NM_001318746.1:c.701A>G, XM_017011376.3:c.817A>G, XM_017011376.2:c.817A>G, XM_017011376.1:c.817A>G, XM_011536192.3:c.761A>G, XM_011536192.2:c.761A>G, XM_011536192.1:c.761A>G, NP_116119.2:p.Lys334Arg, NP_001305675.1:p.Lys234Arg, XP_016866865.1:p.Lys273Glu, XP_011534494.1:p.Lys254Arg

Select item 14531759498.

rs1453175949 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:106622920 (GRCh38)
6:107070795 (GRCh37)
Canonical SPDI:: NC_000006.12:106622919:C:T
Gene:: RTN4IP1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.106622920C>T, NC_000006.11:g.107070795C>T, NG_047205.1:g.12581G>A, NM_032730.5:c.324G>A, NM_032730.4:c.324G>A, NM_001318746.1:c.24G>A, XM_017011376.3:c.324G>A, XM_017011376.2:c.324G>A, XM_017011376.1:c.324G>A, XM_011536192.3:c.84G>A, XM_011536192.2:c.84G>A, XM_011536192.1:c.84G>A

Select item 14529229169.

rs1452922916 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:106592272 (GRCh38)
6:107040147 (GRCh37)
Canonical SPDI:: NC_000006.12:106592271:G:A
Gene:: RTN4IP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000051/1 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.106592272G>A, NC_000006.11:g.107040147G>A, NG_047205.1:g.43229C>T, NM_032730.5:c.698C>T, NM_032730.4:c.698C>T, NM_001318746.1:c.398C>T, XM_017011376.3:c.698C>T, XM_017011376.2:c.698C>T, XM_017011376.1:c.698C>T, XM_011536192.3:c.458C>T, XM_011536192.2:c.458C>T, XM_011536192.1:c.458C>T, NP_116119.2:p.Thr233Ile, NP_001305675.1:p.Thr133Ile, XP_016866865.1:p.Thr233Ile, XP_011534494.1:p.Thr153Ile

Select item 145241626110.

rs1452416261 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:106619285 (GRCh38)
6:107067160 (GRCh37)
Canonical SPDI:: NC_000006.12:106619284:G:A,NC_000006.12:106619284:G:C
Gene:: RTN4IP1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000006.12:g.106619285G>A, NC_000006.12:g.106619285G>C, NC_000006.11:g.107067160G>A, NC_000006.11:g.107067160G>C, NG_047205.1:g.16216C>T, NG_047205.1:g.16216C>G, NM_032730.5:c.537C>T, NM_032730.5:c.537C>G, NM_032730.4:c.537C>T, NM_032730.4:c.537C>G, NM_001318746.1:c.237C>T, NM_001318746.1:c.237C>G, XM_017011376.3:c.537C>T, XM_017011376.3:c.537C>G, XM_017011376.2:c.537C>T, XM_017011376.2:c.537C>G, XM_017011376.1:c.537C>T, XM_017011376.1:c.537C>G, XM_011536192.3:c.297C>T, XM_011536192.3:c.297C>G, XM_011536192.2:c.297C>T, XM_011536192.2:c.297C>G, XM_011536192.1:c.297C>T, XM_011536192.1:c.297C>G

Select item 145177798211.

rs1451777982 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:106587709 (GRCh38)
6:107035584 (GRCh37)
Canonical SPDI:: NC_000006.12:106587708:T:A
Gene:: RTN4IP1 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.106587709T>A, NC_000006.11:g.107035584T>A, NG_047205.1:g.47792A>T, NM_032730.5:c.960A>T, NM_032730.4:c.960A>T, NM_001318746.1:c.660A>T, XM_011536192.3:c.720A>T, XM_011536192.2:c.720A>T, XM_011536192.1:c.720A>T

Select item 144971241212.

rs1449712412 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:106619214 (GRCh38)
6:107067089 (GRCh37)
Canonical SPDI:: NC_000006.12:106619213:C:A
Gene:: RTN4IP1 (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_000006.12:g.106619214C>A, NC_000006.11:g.107067089C>A, NG_047205.1:g.16287G>T, NM_032730.5:c.608G>T, NM_032730.4:c.608G>T, NM_001318746.1:c.308G>T, XM_017011376.3:c.608G>T, XM_017011376.2:c.608G>T, XM_017011376.1:c.608G>T, XM_011536192.3:c.368G>T, XM_011536192.2:c.368G>T, XM_011536192.1:c.368G>T, NP_116119.2:p.Cys203Phe, NP_001305675.1:p.Cys103Phe, XP_016866865.1:p.Cys203Phe, XP_011534494.1:p.Cys123Phe

Select item 144727398513.

rs1447273985 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:106619220 (GRCh38)
6:107067095 (GRCh37)
Canonical SPDI:: NC_000006.12:106619219:T:C
Gene:: RTN4IP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.106619220T>C, NC_000006.11:g.107067095T>C, NG_047205.1:g.16281A>G, NM_032730.5:c.602A>G, NM_032730.4:c.602A>G, NM_001318746.1:c.302A>G, XM_017011376.3:c.602A>G, XM_017011376.2:c.602A>G, XM_017011376.1:c.602A>G, XM_011536192.3:c.362A>G, XM_011536192.2:c.362A>G, XM_011536192.1:c.362A>G, NP_116119.2:p.Lys201Arg, NP_001305675.1:p.Lys101Arg, XP_016866865.1:p.Lys201Arg, XP_011534494.1:p.Lys121Arg

Select item 144633718414.

rs1446337184 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACA>- [Show Flanks]
Chromosome:: 6:106572003 (GRCh38)
6:107019878 (GRCh37)
Canonical SPDI:: NC_000006.12:106571998:AACAACA:AACA
Gene:: CRYBG1 (Varview), RTN4IP1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AACA=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.106572000ACA[1], NC_000006.11:g.107019875ACA[1], NG_047205.1:g.63497GTT[1], NM_032730.5:c.1183GTT[1], NM_032730.4:c.1183GTT[1], NM_001318746.1:c.883GTT[1], NM_001624.4:c.*3434ACA[1], XM_017011376.3:c.*132GTT[1], XM_017011376.2:c.*132GTT[1], XM_017011376.1:c.*132GTT[1], XM_011536192.3:c.943GTT[1], XM_011536192.2:c.943GTT[1], XM_011536192.1:c.943GTT[1], NM_001371242.2:c.*3434ACA[1], XM_047418270.1:c.*3434ACA[1], NP_116119.2:p.Val396del, NP_001305675.1:p.Val296del, XP_011534494.1:p.Val316del

Select item 144373009215.

rs1443730092 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:106619229 (GRCh38)
6:107067104 (GRCh37)
Canonical SPDI:: NC_000006.12:106619228:A:C
Gene:: RTN4IP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.106619229A>C, NC_000006.11:g.107067104A>C, NG_047205.1:g.16272T>G, NM_032730.5:c.593T>G, NM_032730.4:c.593T>G, NM_001318746.1:c.293T>G, XM_017011376.3:c.593T>G, XM_017011376.2:c.593T>G, XM_017011376.1:c.593T>G, XM_011536192.3:c.353T>G, XM_011536192.2:c.353T>G, XM_011536192.1:c.353T>G, NP_116119.2:p.Leu198Arg, NP_001305675.1:p.Leu98Arg, XP_016866865.1:p.Leu198Arg, XP_011534494.1:p.Leu118Arg

Select item 144332997016.

rs1443329970 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:106621426 (GRCh38)
6:107069301 (GRCh37)
Canonical SPDI:: NC_000006.12:106621425:T:C
Gene:: RTN4IP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.106621426T>C, NC_000006.11:g.107069301T>C, NG_047205.1:g.14075A>G, NM_032730.5:c.494A>G, NM_032730.4:c.494A>G, NM_001318746.1:c.194A>G, XM_017011376.3:c.494A>G, XM_017011376.2:c.494A>G, XM_017011376.1:c.494A>G, XM_011536192.3:c.254A>G, XM_011536192.2:c.254A>G, XM_011536192.1:c.254A>G, NP_116119.2:p.Glu165Gly, NP_001305675.1:p.Glu65Gly, XP_016866865.1:p.Glu165Gly, XP_011534494.1:p.Glu85Gly

Select item 144299400717.

rs1442994007 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:106572088 (GRCh38)
6:107019963 (GRCh37)
Canonical SPDI:: NC_000006.12:106572087:C:G
Gene:: CRYBG1 (Varview), RTN4IP1 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.106572088C>G, NC_000006.11:g.107019963C>G, NG_047205.1:g.63413G>C, NM_032730.5:c.1099G>C, NM_032730.4:c.1099G>C, NM_001318746.1:c.799G>C, XM_017011376.3:c.*48G>C, XM_017011376.2:c.*48G>C, XM_017011376.1:c.*48G>C, XM_011536192.3:c.859G>C, XM_011536192.2:c.859G>C, XM_011536192.1:c.859G>C, NP_116119.2:p.Glu367Gln, NP_001305675.1:p.Glu267Gln, XP_011534494.1:p.Glu287Gln

Select item 144117199218.

rs1441171992 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:106592252 (GRCh38)
6:107040127 (GRCh37)
Canonical SPDI:: NC_000006.12:106592251:C:T
Gene:: RTN4IP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.106592252C>T, NC_000006.11:g.107040127C>T, NG_047205.1:g.43249G>A, NM_032730.5:c.718G>A, NM_032730.4:c.718G>A, NM_001318746.1:c.418G>A, XM_017011376.3:c.718G>A, XM_017011376.2:c.718G>A, XM_017011376.1:c.718G>A, XM_011536192.3:c.478G>A, XM_011536192.2:c.478G>A, XM_011536192.1:c.478G>A, NP_116119.2:p.Ala240Thr, NP_001305675.1:p.Ala140Thr, XP_016866865.1:p.Ala240Thr, XP_011534494.1:p.Ala160Thr

Select item 143482392119.

rs1434823921 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 6:106587770 (GRCh38)
6:107035645 (GRCh37)
Canonical SPDI:: NC_000006.12:106587769:A:C,NC_000006.12:106587769:A:G
Gene:: RTN4IP1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.106587770A>C, NC_000006.12:g.106587770A>G, NC_000006.11:g.107035645A>C, NC_000006.11:g.107035645A>G, NG_047205.1:g.47731T>G, NG_047205.1:g.47731T>C, NM_032730.5:c.899T>G, NM_032730.5:c.899T>C, NM_032730.4:c.899T>G, NM_032730.4:c.899T>C, NM_001318746.1:c.599T>G, NM_001318746.1:c.599T>C, XM_011536192.3:c.659T>G, XM_011536192.3:c.659T>C, XM_011536192.2:c.659T>G, XM_011536192.2:c.659T>C, XM_011536192.1:c.659T>G, XM_011536192.1:c.659T>C, NP_116119.2:p.Leu300Trp, NP_116119.2:p.Leu300Ser, NP_001305675.1:p.Leu200Trp, NP_001305675.1:p.Leu200Ser, XP_011534494.1:p.Leu220Trp, XP_011534494.1:p.Leu220Ser

Select item 143317558620.

rs1433175586 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:106619248 (GRCh38)
6:107067123 (GRCh37)
Canonical SPDI:: NC_000006.12:106619247:T:C
Gene:: RTN4IP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000006.12:g.106619248T>C, NC_000006.11:g.107067123T>C, NG_047205.1:g.16253A>G, NM_032730.5:c.574A>G, NM_032730.4:c.574A>G, NM_001318746.1:c.274A>G, XM_017011376.3:c.574A>G, XM_017011376.2:c.574A>G, XM_017011376.1:c.574A>G, XM_011536192.3:c.334A>G, XM_011536192.2:c.334A>G, XM_011536192.1:c.334A>G, NP_116119.2:p.Ile192Val, NP_001305675.1:p.Ile92Val, XP_016866865.1:p.Ile192Val, XP_011534494.1:p.Ile112Val

dbSNP

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