SNP Links for Protein (Select 767992469) - SNP

Links from Protein

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Select item 14909998931.

rs1490999893 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:8393387 (GRCh38)
17:8296705 (GRCh37)
Canonical SPDI:: NC_000017.11:8393386:C:T
Gene:: RNF222 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.8393387C>T, NC_000017.10:g.8296705C>T, XM_011523978.4:c.75G>A, XM_011523978.3:c.75G>A, XM_011523978.2:c.75G>A, XM_011523978.1:c.75G>A, XM_011523980.4:c.75G>A, XM_011523980.3:c.75G>A, XM_011523980.2:c.75G>A, XM_011523980.1:c.75G>A, XM_011523981.4:c.75G>A, XM_011523981.3:c.75G>A, XM_011523981.2:c.75G>A, XM_011523981.1:c.75G>A, NM_001146684.3:c.75G>A, NM_001146684.2:c.75G>A

Select item 14859126522.

rs1485912652 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:8393309 (GRCh38)
17:8296627 (GRCh37)
Canonical SPDI:: NC_000017.11:8393308:C:A,NC_000017.11:8393308:C:T
Gene:: RNF222 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
A=0.000013/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.8393309C>A, NC_000017.11:g.8393309C>T, NC_000017.10:g.8296627C>A, NC_000017.10:g.8296627C>T, XM_011523978.4:c.153G>T, XM_011523978.4:c.153G>A, XM_011523978.3:c.153G>T, XM_011523978.3:c.153G>A, XM_011523978.2:c.153G>T, XM_011523978.2:c.153G>A, XM_011523978.1:c.153G>T, XM_011523978.1:c.153G>A, XM_011523980.4:c.153G>T, XM_011523980.4:c.153G>A, XM_011523980.3:c.153G>T, XM_011523980.3:c.153G>A, XM_011523980.2:c.153G>T, XM_011523980.2:c.153G>A, XM_011523980.1:c.153G>T, XM_011523980.1:c.153G>A, XM_011523981.4:c.153G>T, XM_011523981.4:c.153G>A, XM_011523981.3:c.153G>T, XM_011523981.3:c.153G>A, XM_011523981.2:c.153G>T, XM_011523981.2:c.153G>A, XM_011523981.1:c.153G>T, XM_011523981.1:c.153G>A, NM_001146684.3:c.153G>T, NM_001146684.3:c.153G>A, NM_001146684.2:c.153G>T, NM_001146684.2:c.153G>A

Select item 14832291843.

rs1483229184 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:8393006 (GRCh38)
17:8296324 (GRCh37)
Canonical SPDI:: NC_000017.11:8393005:G:A
Gene:: RNF222 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.8393006G>A, NC_000017.10:g.8296324G>A, XM_011523978.4:c.456C>T, XM_011523978.3:c.456C>T, XM_011523978.2:c.456C>T, XM_011523978.1:c.456C>T, XM_011523980.4:c.456C>T, XM_011523980.3:c.456C>T, XM_011523980.2:c.456C>T, XM_011523980.1:c.456C>T, XM_011523981.4:c.456C>T, XM_011523981.3:c.456C>T, XM_011523981.2:c.456C>T, XM_011523981.1:c.456C>T, NM_001146684.3:c.456C>T, NM_001146684.2:c.456C>T

Select item 14827547844.

rs1482754784 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:8393374 (GRCh38)
17:8296692 (GRCh37)
Canonical SPDI:: NC_000017.11:8393373:T:C
Gene:: RNF222 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.8393374T>C, NC_000017.10:g.8296692T>C, XM_011523978.4:c.88A>G, XM_011523978.3:c.88A>G, XM_011523978.2:c.88A>G, XM_011523978.1:c.88A>G, XM_011523980.4:c.88A>G, XM_011523980.3:c.88A>G, XM_011523980.2:c.88A>G, XM_011523980.1:c.88A>G, XM_011523981.4:c.88A>G, XM_011523981.3:c.88A>G, XM_011523981.2:c.88A>G, XM_011523981.1:c.88A>G, NM_001146684.3:c.88A>G, NM_001146684.2:c.88A>G, XP_011522280.1:p.Thr30Ala, XP_011522282.1:p.Thr30Ala, XP_011522283.1:p.Thr30Ala, NP_001140156.1:p.Thr30Ala

Select item 14797018885.

rs1479701888 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:8393179 (GRCh38)
17:8296497 (GRCh37)
Canonical SPDI:: NC_000017.11:8393178:G:T
Gene:: RNF222 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0002/1 (ALFA)
T=0.0002/1 (Estonian)
HGVS:: NC_000017.11:g.8393179G>T, NC_000017.10:g.8296497G>T, XM_011523978.4:c.283C>A, XM_011523978.3:c.283C>A, XM_011523978.2:c.283C>A, XM_011523978.1:c.283C>A, XM_011523980.4:c.283C>A, XM_011523980.3:c.283C>A, XM_011523980.2:c.283C>A, XM_011523980.1:c.283C>A, XM_011523981.4:c.283C>A, XM_011523981.3:c.283C>A, XM_011523981.2:c.283C>A, XM_011523981.1:c.283C>A, NM_001146684.3:c.283C>A, NM_001146684.2:c.283C>A, XP_011522280.1:p.Pro95Thr, XP_011522282.1:p.Pro95Thr, XP_011522283.1:p.Pro95Thr, NP_001140156.1:p.Pro95Thr

Select item 14775415596.

rs1477541559 [Homo sapiens]

Variant type:: DELINS
Alleles:: CG>- [Show Flanks]
Chromosome:: 17:8392908 (GRCh38)
17:8296226 (GRCh37)
Canonical SPDI:: NC_000017.11:8392904:GCGCG:GCG
Gene:: RNF222 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
-=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.8392906CG[1], NC_000017.10:g.8296224CG[1], XM_011523978.4:c.556_557del, XM_011523978.3:c.556_557del, XM_011523978.2:c.556_557del, XM_011523978.1:c.556_557del, XM_011523980.4:c.556_557del, XM_011523980.3:c.556_557del, XM_011523980.2:c.556_557del, XM_011523980.1:c.556_557del, XM_011523981.4:c.556_557del, XM_011523981.3:c.556_557del, XM_011523981.2:c.556_557del, XM_011523981.1:c.556_557del, NM_001146684.3:c.556_557del, NM_001146684.2:c.556_557del, XP_011522280.1:p.Ala186fs, XP_011522282.1:p.Ala186fs, XP_011522283.1:p.Ala186fs, NP_001140156.1:p.Ala186fs

Select item 14739768287.

rs1473976828 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:8393045 (GRCh38)
17:8296363 (GRCh37)
Canonical SPDI:: NC_000017.11:8393044:C:A,NC_000017.11:8393044:C:T
Gene:: RNF222 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.8393045C>A, NC_000017.11:g.8393045C>T, NC_000017.10:g.8296363C>A, NC_000017.10:g.8296363C>T, XM_011523978.4:c.417G>T, XM_011523978.4:c.417G>A, XM_011523978.3:c.417G>T, XM_011523978.3:c.417G>A, XM_011523978.2:c.417G>T, XM_011523978.2:c.417G>A, XM_011523978.1:c.417G>T, XM_011523978.1:c.417G>A, XM_011523980.4:c.417G>T, XM_011523980.4:c.417G>A, XM_011523980.3:c.417G>T, XM_011523980.3:c.417G>A, XM_011523980.2:c.417G>T, XM_011523980.2:c.417G>A, XM_011523980.1:c.417G>T, XM_011523980.1:c.417G>A, XM_011523981.4:c.417G>T, XM_011523981.4:c.417G>A, XM_011523981.3:c.417G>T, XM_011523981.3:c.417G>A, XM_011523981.2:c.417G>T, XM_011523981.2:c.417G>A, XM_011523981.1:c.417G>T, XM_011523981.1:c.417G>A, NM_001146684.3:c.417G>T, NM_001146684.3:c.417G>A, NM_001146684.2:c.417G>T, NM_001146684.2:c.417G>A

Select item 14722393468.

rs1472239346 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:8392806 (GRCh38)
17:8296124 (GRCh37)
Canonical SPDI:: NC_000017.11:8392805:T:G
Gene:: RNF222 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.8392806T>G, NC_000017.10:g.8296124T>G, XM_011523978.4:c.656A>C, XM_011523978.3:c.656A>C, XM_011523978.2:c.656A>C, XM_011523978.1:c.656A>C, XM_011523980.4:c.656A>C, XM_011523980.3:c.656A>C, XM_011523980.2:c.656A>C, XM_011523980.1:c.656A>C, XM_011523981.4:c.656A>C, XM_011523981.3:c.656A>C, XM_011523981.2:c.656A>C, XM_011523981.1:c.656A>C, NM_001146684.3:c.656A>C, NM_001146684.2:c.656A>C, XP_011522280.1:p.Gln219Pro, XP_011522282.1:p.Gln219Pro, XP_011522283.1:p.Gln219Pro, NP_001140156.1:p.Gln219Pro

Select item 14659182879.

rs1465918287 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:8393181 (GRCh38)
17:8296499 (GRCh37)
Canonical SPDI:: NC_000017.11:8393180:A:G
Gene:: RNF222 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.8393181A>G, NC_000017.10:g.8296499A>G, XM_011523978.4:c.281T>C, XM_011523978.3:c.281T>C, XM_011523978.2:c.281T>C, XM_011523978.1:c.281T>C, XM_011523980.4:c.281T>C, XM_011523980.3:c.281T>C, XM_011523980.2:c.281T>C, XM_011523980.1:c.281T>C, XM_011523981.4:c.281T>C, XM_011523981.3:c.281T>C, XM_011523981.2:c.281T>C, XM_011523981.1:c.281T>C, NM_001146684.3:c.281T>C, NM_001146684.2:c.281T>C, XP_011522280.1:p.Leu94Pro, XP_011522282.1:p.Leu94Pro, XP_011522283.1:p.Leu94Pro, NP_001140156.1:p.Leu94Pro

Select item 146525775110.

rs1465257751 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:8392840 (GRCh38)
17:8296158 (GRCh37)
Canonical SPDI:: NC_000017.11:8392839:C:T
Gene:: RNF222 (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=0.000015/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.8392840C>T, NC_000017.10:g.8296158C>T, XM_011523978.4:c.622G>A, XM_011523978.3:c.622G>A, XM_011523978.2:c.622G>A, XM_011523978.1:c.622G>A, XM_011523980.4:c.622G>A, XM_011523980.3:c.622G>A, XM_011523980.2:c.622G>A, XM_011523980.1:c.622G>A, XM_011523981.4:c.622G>A, XM_011523981.3:c.622G>A, XM_011523981.2:c.622G>A, XM_011523981.1:c.622G>A, NM_001146684.3:c.622G>A, NM_001146684.2:c.622G>A, XP_011522280.1:p.Ala208Thr, XP_011522282.1:p.Ala208Thr, XP_011522283.1:p.Ala208Thr, NP_001140156.1:p.Ala208Thr

Select item 146286429511.

rs1462864295 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:8393106 (GRCh38)
17:8296424 (GRCh37)
Canonical SPDI:: NC_000017.11:8393105:G:A
Gene:: RNF222 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.8393106G>A, NC_000017.10:g.8296424G>A, XM_011523978.4:c.356C>T, XM_011523978.3:c.356C>T, XM_011523978.2:c.356C>T, XM_011523978.1:c.356C>T, XM_011523980.4:c.356C>T, XM_011523980.3:c.356C>T, XM_011523980.2:c.356C>T, XM_011523980.1:c.356C>T, XM_011523981.4:c.356C>T, XM_011523981.3:c.356C>T, XM_011523981.2:c.356C>T, XM_011523981.1:c.356C>T, NM_001146684.3:c.356C>T, NM_001146684.2:c.356C>T, XP_011522280.1:p.Pro119Leu, XP_011522282.1:p.Pro119Leu, XP_011522283.1:p.Pro119Leu, NP_001140156.1:p.Pro119Leu

Select item 145891679412.

rs1458916794 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:8392883 (GRCh38)
17:8296201 (GRCh37)
Canonical SPDI:: NC_000017.11:8392882:G:A
Gene:: RNF222 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.8392883G>A, NC_000017.10:g.8296201G>A, XM_011523978.4:c.579C>T, XM_011523978.3:c.579C>T, XM_011523978.2:c.579C>T, XM_011523978.1:c.579C>T, XM_011523980.4:c.579C>T, XM_011523980.3:c.579C>T, XM_011523980.2:c.579C>T, XM_011523980.1:c.579C>T, XM_011523981.4:c.579C>T, XM_011523981.3:c.579C>T, XM_011523981.2:c.579C>T, XM_011523981.1:c.579C>T, NM_001146684.3:c.579C>T, NM_001146684.2:c.579C>T

Select item 145723193813.

rs1457231938 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:8393267 (GRCh38)
17:8296585 (GRCh37)
Canonical SPDI:: NC_000017.11:8393266:G:A
Gene:: RNF222 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000006/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.8393267G>A, NC_000017.10:g.8296585G>A, XM_011523978.4:c.195C>T, XM_011523978.3:c.195C>T, XM_011523978.2:c.195C>T, XM_011523978.1:c.195C>T, XM_011523980.4:c.195C>T, XM_011523980.3:c.195C>T, XM_011523980.2:c.195C>T, XM_011523980.1:c.195C>T, XM_011523981.4:c.195C>T, XM_011523981.3:c.195C>T, XM_011523981.2:c.195C>T, XM_011523981.1:c.195C>T, NM_001146684.3:c.195C>T, NM_001146684.2:c.195C>T

Select item 145654193314.

rs1456541933 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGGCGCGGGCGGAGCGGGGCGCCA>- [Show Flanks]
Chromosome:: 17:8392903 (GRCh38)
17:8296221 (GRCh37)
Canonical SPDI:: NC_000017.11:8392901:AAGGCGCGGGCGGAGCGGGGCGCCA:A
Gene:: RNF222 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.8392903_8392926del, NC_000017.10:g.8296221_8296244del, XM_011523978.4:c.537_560del, XM_011523978.3:c.537_560del, XM_011523978.2:c.537_560del, XM_011523978.1:c.537_560del, XM_011523980.4:c.537_560del, XM_011523980.3:c.537_560del, XM_011523980.2:c.537_560del, XM_011523980.1:c.537_560del, XM_011523981.4:c.537_560del, XM_011523981.3:c.537_560del, XM_011523981.2:c.537_560del, XM_011523981.1:c.537_560del, NM_001146684.3:c.537_560del, NM_001146684.2:c.537_560del, XP_011522280.1:p.Ala180_Phe187del, XP_011522282.1:p.Ala180_Phe187del, XP_011522283.1:p.Ala180_Phe187del, NP_001140156.1:p.Ala180_Phe187del

Select item 145620701415.

rs1456207014 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:8392805 (GRCh38)
17:8296123 (GRCh37)
Canonical SPDI:: NC_000017.11:8392804:C:T
Gene:: RNF222 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.8392805C>T, NC_000017.10:g.8296123C>T, XM_011523978.4:c.657G>A, XM_011523978.3:c.657G>A, XM_011523978.2:c.657G>A, XM_011523978.1:c.657G>A, XM_011523980.4:c.657G>A, XM_011523980.3:c.657G>A, XM_011523980.2:c.657G>A, XM_011523980.1:c.657G>A, XM_011523981.4:c.657G>A, XM_011523981.3:c.657G>A, XM_011523981.2:c.657G>A, XM_011523981.1:c.657G>A, NM_001146684.3:c.657G>A, NM_001146684.2:c.657G>A

Select item 145546286916.

rs1455462869 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:8393333 (GRCh38)
17:8296651 (GRCh37)
Canonical SPDI:: NC_000017.11:8393332:G:C
Gene:: RNF222 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.8393333G>C, NC_000017.10:g.8296651G>C, XM_011523978.4:c.129C>G, XM_011523978.3:c.129C>G, XM_011523978.2:c.129C>G, XM_011523978.1:c.129C>G, XM_011523980.4:c.129C>G, XM_011523980.3:c.129C>G, XM_011523980.2:c.129C>G, XM_011523980.1:c.129C>G, XM_011523981.4:c.129C>G, XM_011523981.3:c.129C>G, XM_011523981.2:c.129C>G, XM_011523981.1:c.129C>G, NM_001146684.3:c.129C>G, NM_001146684.2:c.129C>G

Select item 145435283217.

rs1454352832 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:8393075 (GRCh38)
17:8296393 (GRCh37)
Canonical SPDI:: NC_000017.11:8393074:C:T
Gene:: RNF222 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
T=0.000022/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.8393075C>T, NC_000017.10:g.8296393C>T, XM_011523978.4:c.387G>A, XM_011523978.3:c.387G>A, XM_011523978.2:c.387G>A, XM_011523978.1:c.387G>A, XM_011523980.4:c.387G>A, XM_011523980.3:c.387G>A, XM_011523980.2:c.387G>A, XM_011523980.1:c.387G>A, XM_011523981.4:c.387G>A, XM_011523981.3:c.387G>A, XM_011523981.2:c.387G>A, XM_011523981.1:c.387G>A, NM_001146684.3:c.387G>A, NM_001146684.2:c.387G>A

Select item 145380813518.

rs1453808135 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:8393344 (GRCh38)
17:8296662 (GRCh37)
Canonical SPDI:: NC_000017.11:8393343:C:T
Gene:: RNF222 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.8393344C>T, NC_000017.10:g.8296662C>T, XM_011523978.4:c.118G>A, XM_011523978.3:c.118G>A, XM_011523978.2:c.118G>A, XM_011523978.1:c.118G>A, XM_011523980.4:c.118G>A, XM_011523980.3:c.118G>A, XM_011523980.2:c.118G>A, XM_011523980.1:c.118G>A, XM_011523981.4:c.118G>A, XM_011523981.3:c.118G>A, XM_011523981.2:c.118G>A, XM_011523981.1:c.118G>A, NM_001146684.3:c.118G>A, NM_001146684.2:c.118G>A, XP_011522280.1:p.Asp40Asn, XP_011522282.1:p.Asp40Asn, XP_011522283.1:p.Asp40Asn, NP_001140156.1:p.Asp40Asn

Select item 145204291919.

rs1452042919 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCT>- [Show Flanks]
Chromosome:: 17:8392807 (GRCh38)
17:8296125 (GRCh37)
Canonical SPDI:: NC_000017.11:8392804:CTGCT:CT
Gene:: RNF222 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CT=0./0 (ALFA)
-=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.8392807_8392809del, NC_000017.10:g.8296125_8296127del, XM_011523978.4:c.655_657del, XM_011523978.3:c.655_657del, XM_011523978.2:c.655_657del, XM_011523978.1:c.655_657del, XM_011523980.4:c.655_657del, XM_011523980.3:c.655_657del, XM_011523980.2:c.655_657del, XM_011523980.1:c.655_657del, XM_011523981.4:c.655_657del, XM_011523981.3:c.655_657del, XM_011523981.2:c.655_657del, XM_011523981.1:c.655_657del, NM_001146684.3:c.655_657del, NM_001146684.2:c.655_657del, XP_011522280.1:p.Gln219del, XP_011522282.1:p.Gln219del, XP_011522283.1:p.Gln219del, NP_001140156.1:p.Gln219del

Select item 144888794820.

rs1448887948 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:8392841 (GRCh38)
17:8296159 (GRCh37)
Canonical SPDI:: NC_000017.11:8392840:G:A
Gene:: RNF222 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.8392841G>A, NC_000017.10:g.8296159G>A, XM_011523978.4:c.621C>T, XM_011523978.3:c.621C>T, XM_011523978.2:c.621C>T, XM_011523978.1:c.621C>T, XM_011523980.4:c.621C>T, XM_011523980.3:c.621C>T, XM_011523980.2:c.621C>T, XM_011523980.1:c.621C>T, XM_011523981.4:c.621C>T, XM_011523981.3:c.621C>T, XM_011523981.2:c.621C>T, XM_011523981.1:c.621C>T, NM_001146684.3:c.621C>T, NM_001146684.2:c.621C>T

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