SNP Links for Protein (Select 115527078) - SNP

Links from Protein

Items: 1 to 20 of 151

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Select item 14890783771.

rs1489078377 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:56994677 (GRCh38)
X:57021110 (GRCh37)
Canonical SPDI:: NC_000023.11:56994676:C:G
Gene:: SPIN3 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.56994677C>G, NC_000023.10:g.57021110C>G, XM_006724577.4:c.271G>C, XM_006724577.3:c.271G>C, XM_006724577.2:c.271G>C, XM_006724577.1:c.271G>C, XM_006724578.4:c.271G>C, XM_006724578.3:c.271G>C, XM_006724578.2:c.271G>C, XM_006724578.1:c.271G>C, NM_001010862.3:c.271G>C, NM_001010862.2:c.271G>C, XM_017029315.2:c.271G>C, XM_017029315.1:c.271G>C, XP_006724640.1:p.Asp91His, XP_006724641.1:p.Asp91His, NP_001010862.2:p.Asp91His, XP_016884804.1:p.Asp91His

Select item 14838584832.

rs1483858483 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:56994838 (GRCh38)
X:57021271 (GRCh37)
Canonical SPDI:: NC_000023.11:56994837:T:G
Gene:: SPIN3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/2 (GnomAD_exomes)
G=0.000019/2 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000023.11:g.56994838T>G, NC_000023.10:g.57021271T>G, XM_006724577.4:c.110A>C, XM_006724577.3:c.110A>C, XM_006724577.2:c.110A>C, XM_006724577.1:c.110A>C, XM_006724578.4:c.110A>C, XM_006724578.3:c.110A>C, XM_006724578.2:c.110A>C, XM_006724578.1:c.110A>C, NM_001010862.3:c.110A>C, NM_001010862.2:c.110A>C, XM_017029315.2:c.110A>C, XM_017029315.1:c.110A>C, NR_027139.2:n.438A>C, NR_027139.1:n.452A>C, XP_006724640.1:p.His37Pro, XP_006724641.1:p.His37Pro, NP_001010862.2:p.His37Pro, XP_016884804.1:p.His37Pro

Select item 14739055513.

rs1473905551 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:56994524 (GRCh38)
X:57020957 (GRCh37)
Canonical SPDI:: NC_000023.11:56994523:C:G
Gene:: SPIN3 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.56994524C>G, NC_000023.10:g.57020957C>G, XM_006724577.4:c.424G>C, XM_006724577.3:c.424G>C, XM_006724577.2:c.424G>C, XM_006724577.1:c.424G>C, XM_006724578.4:c.424G>C, XM_006724578.3:c.424G>C, XM_006724578.2:c.424G>C, XM_006724578.1:c.424G>C, NM_001010862.3:c.424G>C, NM_001010862.2:c.424G>C, XM_017029315.2:c.424G>C, XM_017029315.1:c.424G>C, XP_006724640.1:p.Gly142Arg, XP_006724641.1:p.Gly142Arg, NP_001010862.2:p.Gly142Arg, XP_016884804.1:p.Gly142Arg

Select item 14661470164.

rs1466147016 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:56994190 (GRCh38)
X:57020623 (GRCh37)
Canonical SPDI:: NC_000023.11:56994189:T:C
Gene:: SPIN3 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.56994190T>C, NC_000023.10:g.57020623T>C, XM_006724577.4:c.758A>G, XM_006724577.3:c.758A>G, XM_006724577.2:c.758A>G, XM_006724577.1:c.758A>G, XM_006724578.4:c.758A>G, XM_006724578.3:c.758A>G, XM_006724578.2:c.758A>G, XM_006724578.1:c.758A>G, NM_001010862.3:c.758A>G, NM_001010862.2:c.758A>G, XM_017029315.2:c.758A>G, XM_017029315.1:c.758A>G, XP_006724640.1:p.Asp253Gly, XP_006724641.1:p.Asp253Gly, NP_001010862.2:p.Asp253Gly, XP_016884804.1:p.Asp253Gly

Select item 14608067875.

rs1460806787 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:56994882 (GRCh38)
X:57021315 (GRCh37)
Canonical SPDI:: NC_000023.11:56994881:A:G
Gene:: SPIN3 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.56994882A>G, NC_000023.10:g.57021315A>G, XM_006724577.4:c.66T>C, XM_006724577.3:c.66T>C, XM_006724577.2:c.66T>C, XM_006724577.1:c.66T>C, XM_006724578.4:c.66T>C, XM_006724578.3:c.66T>C, XM_006724578.2:c.66T>C, XM_006724578.1:c.66T>C, NM_001010862.3:c.66T>C, NM_001010862.2:c.66T>C, XM_017029315.2:c.66T>C, XM_017029315.1:c.66T>C, NR_027139.2:n.394T>C, NR_027139.1:n.408T>C

Select item 14508328986.

rs1450832898 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:56994595 (GRCh38)
X:57021028 (GRCh37)
Canonical SPDI:: NC_000023.11:56994594:C:G
Gene:: SPIN3 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.56994595C>G, NC_000023.10:g.57021028C>G, XM_006724577.4:c.353G>C, XM_006724577.3:c.353G>C, XM_006724577.2:c.353G>C, XM_006724577.1:c.353G>C, XM_006724578.4:c.353G>C, XM_006724578.3:c.353G>C, XM_006724578.2:c.353G>C, XM_006724578.1:c.353G>C, NM_001010862.3:c.353G>C, NM_001010862.2:c.353G>C, XM_017029315.2:c.353G>C, XM_017029315.1:c.353G>C, XP_006724640.1:p.Arg118Thr, XP_006724641.1:p.Arg118Thr, NP_001010862.2:p.Arg118Thr, XP_016884804.1:p.Arg118Thr

Select item 14486386417.

rs1448638641 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:56994451 (GRCh38)
X:57020884 (GRCh37)
Canonical SPDI:: NC_000023.11:56994450:T:C
Gene:: SPIN3 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.56994451T>C, NC_000023.10:g.57020884T>C, XM_006724577.4:c.497A>G, XM_006724577.3:c.497A>G, XM_006724577.2:c.497A>G, XM_006724577.1:c.497A>G, XM_006724578.4:c.497A>G, XM_006724578.3:c.497A>G, XM_006724578.2:c.497A>G, XM_006724578.1:c.497A>G, NM_001010862.3:c.497A>G, NM_001010862.2:c.497A>G, XM_017029315.2:c.497A>G, XM_017029315.1:c.497A>G, XP_006724640.1:p.Tyr166Cys, XP_006724641.1:p.Tyr166Cys, NP_001010862.2:p.Tyr166Cys, XP_016884804.1:p.Tyr166Cys

Select item 14457710718.

rs1445771071 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:56994791 (GRCh38)
X:57021224 (GRCh37)
Canonical SPDI:: NC_000023.11:56994790:T:C
Gene:: SPIN3 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.56994791T>C, NC_000023.10:g.57021224T>C, XM_006724577.4:c.157A>G, XM_006724577.3:c.157A>G, XM_006724577.2:c.157A>G, XM_006724577.1:c.157A>G, XM_006724578.4:c.157A>G, XM_006724578.3:c.157A>G, XM_006724578.2:c.157A>G, XM_006724578.1:c.157A>G, NM_001010862.3:c.157A>G, NM_001010862.2:c.157A>G, XM_017029315.2:c.157A>G, XM_017029315.1:c.157A>G, NR_027139.2:n.485A>G, NR_027139.1:n.499A>G, XP_006724640.1:p.Arg53Gly, XP_006724641.1:p.Arg53Gly, NP_001010862.2:p.Arg53Gly, XP_016884804.1:p.Arg53Gly

Select item 14413112379.

rs1441311237 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: X:56994887 (GRCh38)
X:57021320 (GRCh37)
Canonical SPDI:: NC_000023.11:56994886:C:A,NC_000023.11:56994886:C:T
Gene:: SPIN3 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.56994887C>A, NC_000023.11:g.56994887C>T, NC_000023.10:g.57021320C>A, NC_000023.10:g.57021320C>T, XM_006724577.4:c.61G>T, XM_006724577.4:c.61G>A, XM_006724577.3:c.61G>T, XM_006724577.3:c.61G>A, XM_006724577.2:c.61G>T, XM_006724577.2:c.61G>A, XM_006724577.1:c.61G>T, XM_006724577.1:c.61G>A, XM_006724578.4:c.61G>T, XM_006724578.4:c.61G>A, XM_006724578.3:c.61G>T, XM_006724578.3:c.61G>A, XM_006724578.2:c.61G>T, XM_006724578.2:c.61G>A, XM_006724578.1:c.61G>T, XM_006724578.1:c.61G>A, NM_001010862.3:c.61G>T, NM_001010862.3:c.61G>A, NM_001010862.2:c.61G>T, NM_001010862.2:c.61G>A, XM_017029315.2:c.61G>T, XM_017029315.2:c.61G>A, XM_017029315.1:c.61G>T, XM_017029315.1:c.61G>A, NR_027139.2:n.389G>T, NR_027139.2:n.389G>A, NR_027139.1:n.403G>T, NR_027139.1:n.403G>A, XP_006724640.1:p.Gly21Cys, XP_006724640.1:p.Gly21Ser, XP_006724641.1:p.Gly21Cys, XP_006724641.1:p.Gly21Ser, NP_001010862.2:p.Gly21Cys, NP_001010862.2:p.Gly21Ser, XP_016884804.1:p.Gly21Cys, XP_016884804.1:p.Gly21Ser

Select item 144044160010.

rs1440441600 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:56994444 (GRCh38)
X:57020877 (GRCh37)
Canonical SPDI:: NC_000023.11:56994443:T:C
Gene:: SPIN3 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000023.11:g.56994444T>C, NC_000023.10:g.57020877T>C, XM_006724577.4:c.504A>G, XM_006724577.3:c.504A>G, XM_006724577.2:c.504A>G, XM_006724577.1:c.504A>G, XM_006724578.4:c.504A>G, XM_006724578.3:c.504A>G, XM_006724578.2:c.504A>G, XM_006724578.1:c.504A>G, NM_001010862.3:c.504A>G, NM_001010862.2:c.504A>G, XM_017029315.2:c.504A>G, XM_017029315.1:c.504A>G

Select item 143866370611.

rs1438663706 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:56994309 (GRCh38)
X:57020742 (GRCh37)
Canonical SPDI:: NC_000023.11:56994308:C:T
Gene:: SPIN3 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.00001/1 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000023.11:g.56994309C>T, NC_000023.10:g.57020742C>T, XM_006724577.4:c.639G>A, XM_006724577.3:c.639G>A, XM_006724577.2:c.639G>A, XM_006724577.1:c.639G>A, XM_006724578.4:c.639G>A, XM_006724578.3:c.639G>A, XM_006724578.2:c.639G>A, XM_006724578.1:c.639G>A, NM_001010862.3:c.639G>A, NM_001010862.2:c.639G>A, XM_017029315.2:c.639G>A, XM_017029315.1:c.639G>A

Select item 143244109412.

rs1432441094 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:56994773 (GRCh38)
X:57021206 (GRCh37)
Canonical SPDI:: NC_000023.11:56994772:T:C
Gene:: SPIN3 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.56994773T>C, NC_000023.10:g.57021206T>C, XM_006724577.4:c.175A>G, XM_006724577.3:c.175A>G, XM_006724577.2:c.175A>G, XM_006724577.1:c.175A>G, XM_006724578.4:c.175A>G, XM_006724578.3:c.175A>G, XM_006724578.2:c.175A>G, XM_006724578.1:c.175A>G, NM_001010862.3:c.175A>G, NM_001010862.2:c.175A>G, XM_017029315.2:c.175A>G, XM_017029315.1:c.175A>G, NR_027139.2:n.503A>G, NR_027139.1:n.517A>G, XP_006724640.1:p.Lys59Glu, XP_006724641.1:p.Lys59Glu, NP_001010862.2:p.Lys59Glu, XP_016884804.1:p.Lys59Glu

Select item 142447815113.

rs1424478151 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAATCTTG>- [Show Flanks]
Chromosome:: X:56994373 (GRCh38)
X:57020806 (GRCh37)
Canonical SPDI:: NC_000023.11:56994369:TTGGAATCTTG:TTG
Gene:: SPIN3 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,stop_gained
Validated:: by frequency
MAF:: -=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.56994373_56994380del, NC_000023.10:g.57020806_57020813del, XM_006724577.4:c.571_578del, XM_006724577.3:c.571_578del, XM_006724577.2:c.571_578del, XM_006724577.1:c.571_578del, XM_006724578.4:c.571_578del, XM_006724578.3:c.571_578del, XM_006724578.2:c.571_578del, XM_006724578.1:c.571_578del, NM_001010862.3:c.571_578del, NM_001010862.2:c.571_578del, XM_017029315.2:c.571_578del, XM_017029315.1:c.571_578del, XP_006724640.1:p.Gln190_Asp191insTer, XP_006724641.1:p.Gln190_Asp191insTer, NP_001010862.2:p.Gln190_Asp191insTer, XP_016884804.1:p.Gln190_Asp191insTer

Select item 142383533514.

rs1423835335 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: X:56994264 (GRCh38)
X:57020697 (GRCh37)
Canonical SPDI:: NC_000023.11:56994263:G:A,NC_000023.11:56994263:G:C
Gene:: SPIN3 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.56994264G>A, NC_000023.11:g.56994264G>C, NC_000023.10:g.57020697G>A, NC_000023.10:g.57020697G>C, XM_006724577.4:c.684C>T, XM_006724577.4:c.684C>G, XM_006724577.3:c.684C>T, XM_006724577.3:c.684C>G, XM_006724577.2:c.684C>T, XM_006724577.2:c.684C>G, XM_006724577.1:c.684C>T, XM_006724577.1:c.684C>G, XM_006724578.4:c.684C>T, XM_006724578.4:c.684C>G, XM_006724578.3:c.684C>T, XM_006724578.3:c.684C>G, XM_006724578.2:c.684C>T, XM_006724578.2:c.684C>G, XM_006724578.1:c.684C>T, XM_006724578.1:c.684C>G, NM_001010862.3:c.684C>T, NM_001010862.3:c.684C>G, NM_001010862.2:c.684C>T, NM_001010862.2:c.684C>G, XM_017029315.2:c.684C>T, XM_017029315.2:c.684C>G, XM_017029315.1:c.684C>T, XM_017029315.1:c.684C>G

Select item 141873870615.

rs1418738706 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:56994570 (GRCh38)
X:57021003 (GRCh37)
Canonical SPDI:: NC_000023.11:56994569:T:G
Gene:: SPIN3 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.56994570T>G, NC_000023.10:g.57021003T>G, XM_006724577.4:c.378A>C, XM_006724577.3:c.378A>C, XM_006724577.2:c.378A>C, XM_006724577.1:c.378A>C, XM_006724578.4:c.378A>C, XM_006724578.3:c.378A>C, XM_006724578.2:c.378A>C, XM_006724578.1:c.378A>C, NM_001010862.3:c.378A>C, NM_001010862.2:c.378A>C, XM_017029315.2:c.378A>C, XM_017029315.1:c.378A>C, XP_006724640.1:p.Glu126Asp, XP_006724641.1:p.Glu126Asp, NP_001010862.2:p.Glu126Asp, XP_016884804.1:p.Glu126Asp

Select item 141009188516.

rs1410091885 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:56994897 (GRCh38)
X:57021330 (GRCh37)
Canonical SPDI:: NC_000023.11:56994896:G:A
Gene:: SPIN3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000011/2 (GnomAD_exomes)
HGVS:: NC_000023.11:g.56994897G>A, NC_000023.10:g.57021330G>A, XM_006724577.4:c.51C>T, XM_006724577.3:c.51C>T, XM_006724577.2:c.51C>T, XM_006724577.1:c.51C>T, XM_006724578.4:c.51C>T, XM_006724578.3:c.51C>T, XM_006724578.2:c.51C>T, XM_006724578.1:c.51C>T, NM_001010862.3:c.51C>T, NM_001010862.2:c.51C>T, XM_017029315.2:c.51C>T, XM_017029315.1:c.51C>T, NR_027139.2:n.379C>T, NR_027139.1:n.393C>T

Select item 140846485617.

rs1408464856 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:56994208 (GRCh38)
X:57020641 (GRCh37)
Canonical SPDI:: NC_000023.11:56994207:A:G
Gene:: SPIN3 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.56994208A>G, NC_000023.10:g.57020641A>G, XM_006724577.4:c.740T>C, XM_006724577.3:c.740T>C, XM_006724577.2:c.740T>C, XM_006724577.1:c.740T>C, XM_006724578.4:c.740T>C, XM_006724578.3:c.740T>C, XM_006724578.2:c.740T>C, XM_006724578.1:c.740T>C, NM_001010862.3:c.740T>C, NM_001010862.2:c.740T>C, XM_017029315.2:c.740T>C, XM_017029315.1:c.740T>C, XP_006724640.1:p.Phe247Ser, XP_006724641.1:p.Phe247Ser, NP_001010862.2:p.Phe247Ser, XP_016884804.1:p.Phe247Ser

Select item 140099764618.

rs1400997646 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:56994942 (GRCh38)
X:57021375 (GRCh37)
Canonical SPDI:: NC_000023.11:56994941:C:T
Gene:: SPIN3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000023/6 (TOPMED)
T=0.000029/3 (GnomAD)
HGVS:: NC_000023.11:g.56994942C>T, NC_000023.10:g.57021375C>T, XM_006724577.4:c.6G>A, XM_006724577.3:c.6G>A, XM_006724577.2:c.6G>A, XM_006724577.1:c.6G>A, XM_006724578.4:c.6G>A, XM_006724578.3:c.6G>A, XM_006724578.2:c.6G>A, XM_006724578.1:c.6G>A, NM_001010862.3:c.6G>A, NM_001010862.2:c.6G>A, XM_017029315.2:c.6G>A, XM_017029315.1:c.6G>A, NR_027139.2:n.334G>A, NR_027139.1:n.348G>A

Select item 139878530919.

rs1398785309 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:56994754 (GRCh38)
X:57021187 (GRCh37)
Canonical SPDI:: NC_000023.11:56994753:A:G
Gene:: SPIN3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.56994754A>G, NC_000023.10:g.57021187A>G, XM_006724577.4:c.194T>C, XM_006724577.3:c.194T>C, XM_006724577.2:c.194T>C, XM_006724577.1:c.194T>C, XM_006724578.4:c.194T>C, XM_006724578.3:c.194T>C, XM_006724578.2:c.194T>C, XM_006724578.1:c.194T>C, NM_001010862.3:c.194T>C, NM_001010862.2:c.194T>C, XM_017029315.2:c.194T>C, XM_017029315.1:c.194T>C, NR_027139.2:n.522T>C, NR_027139.1:n.536T>C, XP_006724640.1:p.Leu65Pro, XP_006724641.1:p.Leu65Pro, NP_001010862.2:p.Leu65Pro, XP_016884804.1:p.Leu65Pro

Select item 138668926320.

rs1386689263 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:56994647 (GRCh38)
X:57021080 (GRCh37)
Canonical SPDI:: NC_000023.11:56994646:C:T
Gene:: SPIN3 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.56994647C>T, NC_000023.10:g.57021080C>T, XM_006724577.4:c.301G>A, XM_006724577.3:c.301G>A, XM_006724577.2:c.301G>A, XM_006724577.1:c.301G>A, XM_006724578.4:c.301G>A, XM_006724578.3:c.301G>A, XM_006724578.2:c.301G>A, XM_006724578.1:c.301G>A, NM_001010862.3:c.301G>A, NM_001010862.2:c.301G>A, XM_017029315.2:c.301G>A, XM_017029315.1:c.301G>A, XP_006724640.1:p.Asp101Asn, XP_006724641.1:p.Asp101Asn, NP_001010862.2:p.Asp101Asn, XP_016884804.1:p.Asp101Asn

dbSNP

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