SNP Links for Protein (Select 1034612728) - SNP

Links from Protein

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Select item 14909963211.

rs1490996321 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:219570861 (GRCh38)
2:220435583 (GRCh37)
Canonical SPDI:: NC_000002.12:219570860:C:A,NC_000002.12:219570860:C:T
Gene:: INHA (Varview), OBSL1 (Varview)
Functional Consequence:: upstream_transcript_variant,synonymous_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.219570861C>A, NC_000002.12:g.219570861C>T, NC_000002.11:g.220435583C>A, NC_000002.11:g.220435583C>T, NG_016977.1:g.5686G>T, NG_016977.1:g.5686G>A, NM_015311.3:c.372G>T, NM_015311.3:c.372G>A, NM_015311.2:c.372G>T, NM_015311.2:c.372G>A, NM_001173431.2:c.372G>T, NM_001173431.2:c.372G>A, NM_001173431.1:c.372G>T, NM_001173431.1:c.372G>A, NM_001173408.2:c.372G>T, NM_001173408.2:c.372G>A, NM_001173408.1:c.372G>T, NM_001173408.1:c.372G>A, XM_011510863.4:c.372G>T, XM_011510863.4:c.372G>A, XM_011510863.3:c.372G>T, XM_011510863.3:c.372G>A, XM_011510863.2:c.372G>T, XM_011510863.2:c.372G>A, XM_011510863.1:c.372G>T, XM_011510863.1:c.372G>A, XM_011510857.3:c.372G>T, XM_011510857.3:c.372G>A, XM_011510857.2:c.372G>T, XM_011510857.2:c.372G>A, XM_011510857.1:c.372G>T, XM_011510857.1:c.372G>A, XM_017003696.3:c.372G>T, XM_017003696.3:c.372G>A, XM_017003696.2:c.372G>T, XM_017003696.2:c.372G>A, XM_017003696.1:c.372G>T, XM_017003696.1:c.372G>A, XM_017003697.3:c.372G>T, XM_017003697.3:c.372G>A, XM_017003697.2:c.372G>T, XM_017003697.2:c.372G>A, XM_017003697.1:c.372G>T, XM_017003697.1:c.372G>A, XM_011510864.3:c.372G>T, XM_011510864.3:c.372G>A, XM_011510864.2:c.372G>T, XM_011510864.2:c.372G>A, XM_011510864.1:c.372G>T, XM_011510864.1:c.372G>A, XM_011510866.3:c.372G>T, XM_011510866.3:c.372G>A, XM_011510866.2:c.372G>T, XM_011510866.2:c.372G>A, XM_011510866.1:c.372G>T, XM_011510866.1:c.372G>A, XM_011510865.3:c.372G>T, XM_011510865.3:c.372G>A, XM_011510865.2:c.372G>T, XM_011510865.2:c.372G>A, XM_011510865.1:c.372G>T, XM_011510865.1:c.372G>A, XM_017003699.2:c.372G>T, XM_017003699.2:c.372G>A, XM_017003699.1:c.372G>T, XM_017003699.1:c.372G>A, XM_017003698.2:c.372G>T, XM_017003698.2:c.372G>A, XM_017003698.1:c.372G>T, XM_017003698.1:c.372G>A, XM_017003700.2:c.372G>T, XM_017003700.2:c.372G>A, XM_017003700.1:c.372G>T, XM_017003700.1:c.372G>A, XM_047443799.1:c.372G>T, XM_047443799.1:c.372G>A, XM_047443800.1:c.372G>T, XM_047443800.1:c.372G>A

Select item 14909113312.

rs1490911331 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:219567500 (GRCh38)
2:220432222 (GRCh37)
Canonical SPDI:: NC_000002.12:219567499:G:T
Gene:: OBSL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.219567500G>T, NC_000002.11:g.220432222G>T, NG_016977.1:g.9047C>A, NM_015311.3:c.1610C>A, NM_015311.2:c.1610C>A, NM_001173431.2:c.1610C>A, NM_001173431.1:c.1610C>A, NM_001173408.2:c.1610C>A, NM_001173408.1:c.1610C>A, XM_011510863.4:c.1610C>A, XM_011510863.3:c.1610C>A, XM_011510863.2:c.1610C>A, XM_011510863.1:c.1610C>A, XM_011510857.3:c.1610C>A, XM_011510857.2:c.1610C>A, XM_011510857.1:c.1610C>A, XM_017003696.3:c.1610C>A, XM_017003696.2:c.1610C>A, XM_017003696.1:c.1610C>A, XM_017003697.3:c.1610C>A, XM_017003697.2:c.1610C>A, XM_017003697.1:c.1610C>A, XM_011510864.3:c.1610C>A, XM_011510864.2:c.1610C>A, XM_011510864.1:c.1610C>A, XM_011510866.3:c.1610C>A, XM_011510866.2:c.1610C>A, XM_011510866.1:c.1610C>A, XM_011510865.3:c.1610C>A, XM_011510865.2:c.1610C>A, XM_011510865.1:c.1610C>A, XM_017003699.2:c.1610C>A, XM_017003699.1:c.1610C>A, XM_017003698.2:c.1610C>A, XM_017003698.1:c.1610C>A, XM_017003700.2:c.1610C>A, XM_017003700.1:c.1610C>A, XM_047443799.1:c.1610C>A, XM_047443800.1:c.1610C>A, NP_056126.1:p.Thr537Asn, NP_001166902.1:p.Thr537Asn, NP_001166879.1:p.Thr537Asn, XP_011509165.1:p.Thr537Asn, XP_011509159.1:p.Thr537Asn, XP_016859185.1:p.Thr537Asn, XP_016859186.1:p.Thr537Asn, XP_011509166.1:p.Thr537Asn, XP_011509168.1:p.Thr537Asn, XP_011509167.1:p.Thr537Asn, XP_016859188.1:p.Thr537Asn, XP_016859187.1:p.Thr537Asn, XP_016859189.1:p.Thr537Asn, XP_047299755.1:p.Thr537Asn, XP_047299756.1:p.Thr537Asn

Select item 14905362933.

rs1490536293 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:219554677 (GRCh38)
2:220419399 (GRCh37)
Canonical SPDI:: NC_000002.12:219554676:G:A
Gene:: OBSL1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,3_prime_UTR_variant
HGVS:: NC_000002.12:g.219554677G>A, NC_000002.11:g.220419399G>A, NG_016977.1:g.21870C>T, NM_015311.3:c.4673C>T, NM_015311.2:c.4673C>T, XM_011510857.3:c.4673C>T, XM_011510857.2:c.4673C>T, XM_011510857.1:c.4673C>T, XM_017003696.3:c.4673C>T, XM_017003696.2:c.4673C>T, XM_017003696.1:c.4673C>T, XM_017003697.3:c.4673C>T, XM_017003697.2:c.4673C>T, XM_017003697.1:c.4673C>T, XM_011510865.3:c.*67C>T, XM_011510865.2:c.*67C>T, XM_011510865.1:c.*67C>T, XM_017003699.2:c.4397C>T, XM_017003699.1:c.4397C>T, XM_017003698.2:c.4397C>T, XM_017003698.1:c.4397C>T, XM_017003700.2:c.4121C>T, XM_017003700.1:c.4121C>T, NP_056126.1:p.Thr1558Ile, XP_011509159.1:p.Thr1558Ile, XP_016859185.1:p.Thr1558Ile, XP_016859186.1:p.Thr1558Ile, XP_016859188.1:p.Thr1466Ile, XP_016859187.1:p.Thr1466Ile, XP_016859189.1:p.Thr1374Ile

Select item 14903182974.

rs1490318297 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:219551714 (GRCh38)
2:220416436 (GRCh37)
Canonical SPDI:: NC_000002.12:219551713:G:C
Gene:: OBSL1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.219551714G>C, NC_000002.11:g.220416436G>C, NG_016977.1:g.24833C>G, NM_015311.3:c.5498C>G, NM_015311.2:c.5498C>G, XM_011510857.3:c.5498C>G, XM_011510857.2:c.5498C>G, XM_011510857.1:c.5498C>G, XM_017003696.3:c.5498C>G, XM_017003696.2:c.5498C>G, XM_017003696.1:c.5498C>G, XM_017003697.3:c.5498C>G, XM_017003697.2:c.5498C>G, XM_017003697.1:c.5498C>G, XM_017003699.2:c.5222C>G, XM_017003699.1:c.5222C>G, XM_017003698.2:c.5222C>G, XM_017003698.1:c.5222C>G, XM_017003700.2:c.4946C>G, XM_017003700.1:c.4946C>G, NP_056126.1:p.Ser1833Cys, XP_011509159.1:p.Ser1833Cys, XP_016859185.1:p.Ser1833Cys, XP_016859186.1:p.Ser1833Cys, XP_016859188.1:p.Ser1741Cys, XP_016859187.1:p.Ser1741Cys, XP_016859189.1:p.Ser1649Cys

Select item 14903131175.

rs1490313117 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:219556278 (GRCh38)
2:220421000 (GRCh37)
Canonical SPDI:: NC_000002.12:219556277:A:G
Gene:: OBSL1 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.219556278A>G, NC_000002.11:g.220421000A>G, NG_016977.1:g.20269T>C, NM_015311.3:c.4351T>C, NM_015311.2:c.4351T>C, NM_001173431.2:c.4351T>C, NM_001173431.1:c.4351T>C, XM_011510863.4:c.4351T>C, XM_011510863.3:c.4351T>C, XM_011510863.2:c.4351T>C, XM_011510863.1:c.4351T>C, XM_011510857.3:c.4351T>C, XM_011510857.2:c.4351T>C, XM_011510857.1:c.4351T>C, XM_017003696.3:c.4351T>C, XM_017003696.2:c.4351T>C, XM_017003696.1:c.4351T>C, XM_017003697.3:c.4351T>C, XM_017003697.2:c.4351T>C, XM_017003697.1:c.4351T>C, XM_011510864.3:c.4227T>C, XM_011510864.2:c.4227T>C, XM_011510864.1:c.4227T>C, XM_011510866.3:c.3951T>C, XM_011510866.2:c.3951T>C, XM_011510866.1:c.3951T>C, XM_011510865.3:c.4227T>C, XM_011510865.2:c.4227T>C, XM_011510865.1:c.4227T>C, XM_017003699.2:c.4075T>C, XM_017003699.1:c.4075T>C, XM_017003698.2:c.4075T>C, XM_017003698.1:c.4075T>C, XM_017003700.2:c.3799T>C, XM_017003700.1:c.3799T>C, XM_047443799.1:c.3951T>C, XM_047443800.1:c.3675T>C, NP_056126.1:p.Phe1451Leu, NP_001166902.1:p.Phe1451Leu, XP_011509165.1:p.Phe1451Leu, XP_011509159.1:p.Phe1451Leu, XP_016859185.1:p.Phe1451Leu, XP_016859186.1:p.Phe1451Leu, XP_016859188.1:p.Phe1359Leu, XP_016859187.1:p.Phe1359Leu, XP_016859189.1:p.Phe1267Leu

Select item 14893149866.

rs1489314986 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:219553022 (GRCh38)
2:220417744 (GRCh37)
Canonical SPDI:: NC_000002.12:219553021:G:A
Gene:: OBSL1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.219553022G>A, NC_000002.11:g.220417744G>A, NG_016977.1:g.23525C>T, NM_015311.3:c.4992C>T, NM_015311.2:c.4992C>T, XM_011510863.4:c.4612C>T, XM_011510863.3:c.4612C>T, XM_011510863.2:c.4612C>T, XM_011510863.1:c.4612C>T, XM_011510857.3:c.4992C>T, XM_011510857.2:c.4992C>T, XM_011510857.1:c.4992C>T, XM_017003696.3:c.4992C>T, XM_017003696.2:c.4992C>T, XM_017003696.1:c.4992C>T, XM_017003697.3:c.4992C>T, XM_017003697.2:c.4992C>T, XM_017003697.1:c.4992C>T, XM_017003699.2:c.4716C>T, XM_017003699.1:c.4716C>T, XM_017003698.2:c.4716C>T, XM_017003698.1:c.4716C>T, XM_017003700.2:c.4440C>T, XM_017003700.1:c.4440C>T, XP_011509165.1:p.Arg1538Trp

Select item 14890276257.

rs1489027625 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:219557475 (GRCh38)
2:220422197 (GRCh37)
Canonical SPDI:: NC_000002.12:219557474:G:A
Gene:: OBSL1 (Varview)
Functional Consequence:: stop_gained,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000566/9 (TOMMO)
HGVS:: NC_000002.12:g.219557475G>A, NC_000002.11:g.220422197G>A, NG_016977.1:g.19072C>T, NM_015311.3:c.3934C>T, NM_015311.2:c.3934C>T, NM_001173431.2:c.3934C>T, NM_001173431.1:c.3934C>T, XM_011510863.4:c.3934C>T, XM_011510863.3:c.3934C>T, XM_011510863.2:c.3934C>T, XM_011510863.1:c.3934C>T, XM_011510857.3:c.3934C>T, XM_011510857.2:c.3934C>T, XM_011510857.1:c.3934C>T, XM_017003696.3:c.3934C>T, XM_017003696.2:c.3934C>T, XM_017003696.1:c.3934C>T, XM_017003697.3:c.3934C>T, XM_017003697.2:c.3934C>T, XM_017003697.1:c.3934C>T, XM_011510864.3:c.3934C>T, XM_011510864.2:c.3934C>T, XM_011510864.1:c.3934C>T, XM_011510866.3:c.3658C>T, XM_011510866.2:c.3658C>T, XM_011510866.1:c.3658C>T, XM_011510865.3:c.3934C>T, XM_011510865.2:c.3934C>T, XM_011510865.1:c.3934C>T, XM_017003699.2:c.3658C>T, XM_017003699.1:c.3658C>T, NP_056126.1:p.Gln1312Ter, NP_001166902.1:p.Gln1312Ter, XP_011509165.1:p.Gln1312Ter, XP_011509159.1:p.Gln1312Ter, XP_016859185.1:p.Gln1312Ter, XP_016859186.1:p.Gln1312Ter, XP_011509166.1:p.Gln1312Ter, XP_011509168.1:p.Gln1220Ter, XP_011509167.1:p.Gln1312Ter, XP_016859188.1:p.Gln1220Ter

Select item 14886251538.

rs1488625153 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 2:219557942 (GRCh38)
2:220422664 (GRCh37)
Canonical SPDI:: NC_000002.12:219557941:T:
Gene:: OBSL1 (Varview)
Functional Consequence:: frameshift_variant,genic_downstream_transcript_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00003/8 (TOPMED)
-=0.000064/9 (GnomAD)
HGVS:: NC_000002.12:g.219557942del, NC_000002.11:g.220422664del, NG_016977.1:g.18605del, NM_015311.3:c.3671del, NM_015311.2:c.3671del, NM_001173431.2:c.3671del, NM_001173431.1:c.3671del, XM_011510863.4:c.3671del, XM_011510863.3:c.3671del, XM_011510863.2:c.3671del, XM_011510863.1:c.3671del, XM_011510857.3:c.3671del, XM_011510857.2:c.3671del, XM_011510857.1:c.3671del, XM_017003696.3:c.3671del, XM_017003696.2:c.3671del, XM_017003696.1:c.3671del, XM_017003697.3:c.3671del, XM_017003697.2:c.3671del, XM_017003697.1:c.3671del, XM_011510864.3:c.3671del, XM_011510864.2:c.3671del, XM_011510864.1:c.3671del, XM_011510866.3:c.3395del, XM_011510866.2:c.3395del, XM_011510866.1:c.3395del, XM_011510865.3:c.3671del, XM_011510865.2:c.3671del, XM_011510865.1:c.3671del, XM_017003699.2:c.3395del, XM_017003699.1:c.3395del, XM_017003698.2:c.3671del, XM_017003698.1:c.3671del, XM_017003700.2:c.3395del, XM_017003700.1:c.3395del, XM_047443799.1:c.3671del, XM_047443800.1:c.3395del, NP_056126.1:p.Glu1224fs, NP_001166902.1:p.Glu1224fs, XP_011509165.1:p.Glu1224fs, XP_011509159.1:p.Glu1224fs, XP_016859185.1:p.Glu1224fs, XP_016859186.1:p.Glu1224fs, XP_011509166.1:p.Glu1224fs, XP_011509168.1:p.Glu1132fs, XP_011509167.1:p.Glu1224fs, XP_016859188.1:p.Glu1132fs, XP_016859187.1:p.Glu1224fs, XP_016859189.1:p.Glu1132fs, XP_047299755.1:p.Glu1224fs, XP_047299756.1:p.Glu1132fs

Select item 14883407389.

rs1488340738 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:219558035 (GRCh38)
2:220422757 (GRCh37)
Canonical SPDI:: NC_000002.12:219558034:A:G
Gene:: OBSL1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.219558035A>G, NC_000002.11:g.220422757A>G, NG_016977.1:g.18512T>C, NM_015311.3:c.3578T>C, NM_015311.2:c.3578T>C, NM_001173431.2:c.3578T>C, NM_001173431.1:c.3578T>C, XM_011510863.4:c.3578T>C, XM_011510863.3:c.3578T>C, XM_011510863.2:c.3578T>C, XM_011510863.1:c.3578T>C, XM_011510857.3:c.3578T>C, XM_011510857.2:c.3578T>C, XM_011510857.1:c.3578T>C, XM_017003696.3:c.3578T>C, XM_017003696.2:c.3578T>C, XM_017003696.1:c.3578T>C, XM_017003697.3:c.3578T>C, XM_017003697.2:c.3578T>C, XM_017003697.1:c.3578T>C, XM_011510864.3:c.3578T>C, XM_011510864.2:c.3578T>C, XM_011510864.1:c.3578T>C, XM_011510866.3:c.3302T>C, XM_011510866.2:c.3302T>C, XM_011510866.1:c.3302T>C, XM_011510865.3:c.3578T>C, XM_011510865.2:c.3578T>C, XM_011510865.1:c.3578T>C, XM_017003699.2:c.3302T>C, XM_017003699.1:c.3302T>C, XM_017003698.2:c.3578T>C, XM_017003698.1:c.3578T>C, XM_017003700.2:c.3302T>C, XM_017003700.1:c.3302T>C, XM_047443799.1:c.3578T>C, XM_047443800.1:c.3302T>C, NP_056126.1:p.Leu1193Pro, NP_001166902.1:p.Leu1193Pro, XP_011509165.1:p.Leu1193Pro, XP_011509159.1:p.Leu1193Pro, XP_016859185.1:p.Leu1193Pro, XP_016859186.1:p.Leu1193Pro, XP_011509166.1:p.Leu1193Pro, XP_011509168.1:p.Leu1101Pro, XP_011509167.1:p.Leu1193Pro, XP_016859188.1:p.Leu1101Pro, XP_016859187.1:p.Leu1193Pro, XP_016859189.1:p.Leu1101Pro, XP_047299755.1:p.Leu1193Pro, XP_047299756.1:p.Leu1101Pro

Select item 148827865310.

rs1488278653 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:219552906 (GRCh38)
2:220417628 (GRCh37)
Canonical SPDI:: NC_000002.12:219552905:C:T
Gene:: OBSL1 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (Korea1K)
T=0.000007/1 (GnomAD)
T=0.000008/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.219552906C>T, NC_000002.11:g.220417628C>T, NG_016977.1:g.23641G>A, NM_015311.3:c.5108G>A, NM_015311.2:c.5108G>A, XM_011510857.3:c.5108G>A, XM_011510857.2:c.5108G>A, XM_011510857.1:c.5108G>A, XM_017003696.3:c.5108G>A, XM_017003696.2:c.5108G>A, XM_017003696.1:c.5108G>A, XM_017003697.3:c.5108G>A, XM_017003697.2:c.5108G>A, XM_017003697.1:c.5108G>A, XM_017003699.2:c.4832G>A, XM_017003699.1:c.4832G>A, XM_017003698.2:c.4832G>A, XM_017003698.1:c.4832G>A, XM_017003700.2:c.4556G>A, XM_017003700.1:c.4556G>A, NP_056126.1:p.Gly1703Glu, XP_011509159.1:p.Gly1703Glu, XP_016859185.1:p.Gly1703Glu, XP_016859186.1:p.Gly1703Glu, XP_016859188.1:p.Gly1611Glu, XP_016859187.1:p.Gly1611Glu, XP_016859189.1:p.Gly1519Glu

Select item 148819630511.

rs1488196305 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:219565380 (GRCh38)
2:220430102 (GRCh37)
Canonical SPDI:: NC_000002.12:219565379:C:T
Gene:: OBSL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.219565380C>T, NC_000002.11:g.220430102C>T, NG_016977.1:g.11167G>A, NM_015311.3:c.2269G>A, NM_015311.2:c.2269G>A, NM_001173431.2:c.2269G>A, NM_001173431.1:c.2269G>A, NM_001173408.2:c.2269G>A, NM_001173408.1:c.2269G>A, XM_011510863.4:c.2269G>A, XM_011510863.3:c.2269G>A, XM_011510863.2:c.2269G>A, XM_011510863.1:c.2269G>A, XM_011510857.3:c.2269G>A, XM_011510857.2:c.2269G>A, XM_011510857.1:c.2269G>A, XM_017003696.3:c.2269G>A, XM_017003696.2:c.2269G>A, XM_017003696.1:c.2269G>A, XM_017003697.3:c.2269G>A, XM_017003697.2:c.2269G>A, XM_017003697.1:c.2269G>A, XM_011510864.3:c.2269G>A, XM_011510864.2:c.2269G>A, XM_011510864.1:c.2269G>A, XM_011510866.3:c.2269G>A, XM_011510866.2:c.2269G>A, XM_011510866.1:c.2269G>A, XM_011510865.3:c.2269G>A, XM_011510865.2:c.2269G>A, XM_011510865.1:c.2269G>A, XM_017003699.2:c.2269G>A, XM_017003699.1:c.2269G>A, XM_017003698.2:c.2269G>A, XM_017003698.1:c.2269G>A, XM_017003700.2:c.2269G>A, XM_017003700.1:c.2269G>A, XM_047443799.1:c.2269G>A, XM_047443800.1:c.2269G>A, NP_056126.1:p.Glu757Lys, NP_001166902.1:p.Glu757Lys, NP_001166879.1:p.Glu757Lys, XP_011509165.1:p.Glu757Lys, XP_011509159.1:p.Glu757Lys, XP_016859185.1:p.Glu757Lys, XP_016859186.1:p.Glu757Lys, XP_011509166.1:p.Glu757Lys, XP_011509168.1:p.Glu757Lys, XP_011509167.1:p.Glu757Lys, XP_016859188.1:p.Glu757Lys, XP_016859187.1:p.Glu757Lys, XP_016859189.1:p.Glu757Lys, XP_047299755.1:p.Glu757Lys, XP_047299756.1:p.Glu757Lys

Select item 148805726312.

rs1488057263 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:219552127 (GRCh38)
2:220416849 (GRCh37)
Canonical SPDI:: NC_000002.12:219552126:G:A
Gene:: OBSL1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000002.12:g.219552127G>A, NC_000002.11:g.220416849G>A, NG_016977.1:g.24420C>T, NM_015311.3:c.5398C>T, NM_015311.2:c.5398C>T, XM_011510857.3:c.5398C>T, XM_011510857.2:c.5398C>T, XM_011510857.1:c.5398C>T, XM_017003696.3:c.5398C>T, XM_017003696.2:c.5398C>T, XM_017003696.1:c.5398C>T, XM_017003697.3:c.5398C>T, XM_017003697.2:c.5398C>T, XM_017003697.1:c.5398C>T, XM_017003699.2:c.5122C>T, XM_017003699.1:c.5122C>T, XM_017003698.2:c.5122C>T, XM_017003698.1:c.5122C>T, XM_017003700.2:c.4846C>T, XM_017003700.1:c.4846C>T

Select item 148743491513.

rs1487434915 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:219570650 (GRCh38)
2:220435372 (GRCh37)
Canonical SPDI:: NC_000002.12:219570649:G:A
Gene:: INHA (Varview), OBSL1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.219570650G>A, NC_000002.11:g.220435372G>A, NG_016977.1:g.5897C>T, NM_015311.3:c.583C>T, NM_015311.2:c.583C>T, NM_001173431.2:c.583C>T, NM_001173431.1:c.583C>T, NM_001173408.2:c.583C>T, NM_001173408.1:c.583C>T, XM_011510863.4:c.583C>T, XM_011510863.3:c.583C>T, XM_011510863.2:c.583C>T, XM_011510863.1:c.583C>T, XM_011510857.3:c.583C>T, XM_011510857.2:c.583C>T, XM_011510857.1:c.583C>T, XM_017003696.3:c.583C>T, XM_017003696.2:c.583C>T, XM_017003696.1:c.583C>T, XM_017003697.3:c.583C>T, XM_017003697.2:c.583C>T, XM_017003697.1:c.583C>T, XM_011510864.3:c.583C>T, XM_011510864.2:c.583C>T, XM_011510864.1:c.583C>T, XM_011510866.3:c.583C>T, XM_011510866.2:c.583C>T, XM_011510866.1:c.583C>T, XM_011510865.3:c.583C>T, XM_011510865.2:c.583C>T, XM_011510865.1:c.583C>T, XM_017003699.2:c.583C>T, XM_017003699.1:c.583C>T, XM_017003698.2:c.583C>T, XM_017003698.1:c.583C>T, XM_017003700.2:c.583C>T, XM_017003700.1:c.583C>T, XM_047443799.1:c.583C>T, XM_047443800.1:c.583C>T, NP_056126.1:p.Arg195Cys, NP_001166902.1:p.Arg195Cys, NP_001166879.1:p.Arg195Cys, XP_011509165.1:p.Arg195Cys, XP_011509159.1:p.Arg195Cys, XP_016859185.1:p.Arg195Cys, XP_016859186.1:p.Arg195Cys, XP_011509166.1:p.Arg195Cys, XP_011509168.1:p.Arg195Cys, XP_011509167.1:p.Arg195Cys, XP_016859188.1:p.Arg195Cys, XP_016859187.1:p.Arg195Cys, XP_016859189.1:p.Arg195Cys, XP_047299755.1:p.Arg195Cys, XP_047299756.1:p.Arg195Cys

Select item 148715910414.

rs1487159104 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:219554685 (GRCh38)
2:220419407 (GRCh37)
Canonical SPDI:: NC_000002.12:219554684:G:T
Gene:: OBSL1 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0.0001/1 (ALFA)
HGVS:: NC_000002.12:g.219554685G>T, NC_000002.11:g.220419407G>T, NG_016977.1:g.21862C>A, NM_015311.3:c.4665C>A, NM_015311.2:c.4665C>A, XM_011510857.3:c.4665C>A, XM_011510857.2:c.4665C>A, XM_011510857.1:c.4665C>A, XM_017003696.3:c.4665C>A, XM_017003696.2:c.4665C>A, XM_017003696.1:c.4665C>A, XM_017003697.3:c.4665C>A, XM_017003697.2:c.4665C>A, XM_017003697.1:c.4665C>A, XM_011510865.3:c.*59C>A, XM_011510865.2:c.*59C>A, XM_011510865.1:c.*59C>A, XM_017003699.2:c.4389C>A, XM_017003699.1:c.4389C>A, XM_017003698.2:c.4389C>A, XM_017003698.1:c.4389C>A, XM_017003700.2:c.4113C>A, XM_017003700.1:c.4113C>A

Select item 148706526615.

rs1487065266 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:219556488 (GRCh38)
2:220421210 (GRCh37)
Canonical SPDI:: NC_000002.12:219556487:C:T
Gene:: OBSL1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.219556488C>T, NC_000002.11:g.220421210C>T, NG_016977.1:g.20059G>A, NM_015311.3:c.4302G>A, NM_015311.2:c.4302G>A, NM_001173431.2:c.4302G>A, NM_001173431.1:c.4302G>A, XM_011510863.4:c.4302G>A, XM_011510863.3:c.4302G>A, XM_011510863.2:c.4302G>A, XM_011510863.1:c.4302G>A, XM_011510857.3:c.4302G>A, XM_011510857.2:c.4302G>A, XM_011510857.1:c.4302G>A, XM_017003696.3:c.4302G>A, XM_017003696.2:c.4302G>A, XM_017003696.1:c.4302G>A, XM_017003697.3:c.4302G>A, XM_017003697.2:c.4302G>A, XM_017003697.1:c.4302G>A, XM_017003699.2:c.4026G>A, XM_017003699.1:c.4026G>A, XM_017003698.2:c.4026G>A, XM_017003698.1:c.4026G>A, XM_017003700.2:c.3750G>A, XM_017003700.1:c.3750G>A

Select item 148699537916.

rs1486995379 [Homo sapiens]

Variant type:: DEL
Alleles:: TCACCG>- [Show Flanks]
Chromosome:: 2:219552659 (GRCh38)
2:220417381 (GRCh37)
Canonical SPDI:: NC_000002.12:219552658:TCACCG:
Gene:: OBSL1 (Varview)
Functional Consequence:: inframe_indel,downstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.219552659_219552664del, NC_000002.11:g.220417381_220417386del, NG_016977.1:g.23883_23888del, NM_015311.3:c.5180_5185del, NM_015311.2:c.5180_5185del, XM_011510857.3:c.5180_5185del, XM_011510857.2:c.5180_5185del, XM_011510857.1:c.5180_5185del, XM_017003696.3:c.5180_5185del, XM_017003696.2:c.5180_5185del, XM_017003696.1:c.5180_5185del, XM_017003697.3:c.5180_5185del, XM_017003697.2:c.5180_5185del, XM_017003697.1:c.5180_5185del, XM_017003699.2:c.4904_4909del, XM_017003699.1:c.4904_4909del, XM_017003698.2:c.4904_4909del, XM_017003698.1:c.4904_4909del, XM_017003700.2:c.4628_4633del, XM_017003700.1:c.4628_4633del, NP_056126.1:p.Ser1727_Ser1729delinsCys, XP_011509159.1:p.Ser1727_Ser1729delinsCys, XP_016859185.1:p.Ser1727_Ser1729delinsCys, XP_016859186.1:p.Ser1727_Ser1729delinsCys, XP_016859188.1:p.Ser1635_Ser1637delinsCys, XP_016859187.1:p.Ser1635_Ser1637delinsCys, XP_016859189.1:p.Ser1543_Ser1545delinsCys

Select item 148613598617.

rs1486135986 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:219567920 (GRCh38)
2:220432642 (GRCh37)
Canonical SPDI:: NC_000002.12:219567919:C:A,NC_000002.12:219567919:C:T
Gene:: OBSL1 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.219567920C>A, NC_000002.12:g.219567920C>T, NC_000002.11:g.220432642C>A, NC_000002.11:g.220432642C>T, NG_016977.1:g.8627G>T, NG_016977.1:g.8627G>A, NM_015311.3:c.1332G>T, NM_015311.3:c.1332G>A, NM_015311.2:c.1332G>T, NM_015311.2:c.1332G>A, NM_001173431.2:c.1332G>T, NM_001173431.2:c.1332G>A, NM_001173431.1:c.1332G>T, NM_001173431.1:c.1332G>A, NM_001173408.2:c.1332G>T, NM_001173408.2:c.1332G>A, NM_001173408.1:c.1332G>T, NM_001173408.1:c.1332G>A, XM_011510863.4:c.1332G>T, XM_011510863.4:c.1332G>A, XM_011510863.3:c.1332G>T, XM_011510863.3:c.1332G>A, XM_011510863.2:c.1332G>T, XM_011510863.2:c.1332G>A, XM_011510863.1:c.1332G>T, XM_011510863.1:c.1332G>A, XM_011510857.3:c.1332G>T, XM_011510857.3:c.1332G>A, XM_011510857.2:c.1332G>T, XM_011510857.2:c.1332G>A, XM_011510857.1:c.1332G>T, XM_011510857.1:c.1332G>A, XM_017003696.3:c.1332G>T, XM_017003696.3:c.1332G>A, XM_017003696.2:c.1332G>T, XM_017003696.2:c.1332G>A, XM_017003696.1:c.1332G>T, XM_017003696.1:c.1332G>A, XM_017003697.3:c.1332G>T, XM_017003697.3:c.1332G>A, XM_017003697.2:c.1332G>T, XM_017003697.2:c.1332G>A, XM_017003697.1:c.1332G>T, XM_017003697.1:c.1332G>A, XM_011510864.3:c.1332G>T, XM_011510864.3:c.1332G>A, XM_011510864.2:c.1332G>T, XM_011510864.2:c.1332G>A, XM_011510864.1:c.1332G>T, XM_011510864.1:c.1332G>A, XM_011510866.3:c.1332G>T, XM_011510866.3:c.1332G>A, XM_011510866.2:c.1332G>T, XM_011510866.2:c.1332G>A, XM_011510866.1:c.1332G>T, XM_011510866.1:c.1332G>A, XM_011510865.3:c.1332G>T, XM_011510865.3:c.1332G>A, XM_011510865.2:c.1332G>T, XM_011510865.2:c.1332G>A, XM_011510865.1:c.1332G>T, XM_011510865.1:c.1332G>A, XM_017003699.2:c.1332G>T, XM_017003699.2:c.1332G>A, XM_017003699.1:c.1332G>T, XM_017003699.1:c.1332G>A, XM_017003698.2:c.1332G>T, XM_017003698.2:c.1332G>A, XM_017003698.1:c.1332G>T, XM_017003698.1:c.1332G>A, XM_017003700.2:c.1332G>T, XM_017003700.2:c.1332G>A, XM_017003700.1:c.1332G>T, XM_017003700.1:c.1332G>A, XM_047443799.1:c.1332G>T, XM_047443799.1:c.1332G>A, XM_047443800.1:c.1332G>T, XM_047443800.1:c.1332G>A, NP_056126.1:p.Glu444Asp, NP_001166902.1:p.Glu444Asp, NP_001166879.1:p.Glu444Asp, XP_011509165.1:p.Glu444Asp, XP_011509159.1:p.Glu444Asp, XP_016859185.1:p.Glu444Asp, XP_016859186.1:p.Glu444Asp, XP_011509166.1:p.Glu444Asp, XP_011509168.1:p.Glu444Asp, XP_011509167.1:p.Glu444Asp, XP_016859188.1:p.Glu444Asp, XP_016859187.1:p.Glu444Asp, XP_016859189.1:p.Glu444Asp, XP_047299755.1:p.Glu444Asp, XP_047299756.1:p.Glu444Asp

Select item 148488509418.

rs1484885094 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:219571023 (GRCh38)
2:220435745 (GRCh37)
Canonical SPDI:: NC_000002.12:219571022:C:A
Gene:: INHA (Varview), OBSL1 (Varview)
Functional Consequence:: upstream_transcript_variant,synonymous_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000447/2 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000156/1 (1000Genomes)
A=0.000446/2 (Estonian)
HGVS:: NC_000002.12:g.219571023C>A, NC_000002.11:g.220435745C>A, NG_016977.1:g.5524G>T, NM_015311.3:c.210G>T, NM_015311.2:c.210G>T, NM_001173431.2:c.210G>T, NM_001173431.1:c.210G>T, NM_001173408.2:c.210G>T, NM_001173408.1:c.210G>T, XM_011510863.4:c.210G>T, XM_011510863.3:c.210G>T, XM_011510863.2:c.210G>T, XM_011510863.1:c.210G>T, XM_011510857.3:c.210G>T, XM_011510857.2:c.210G>T, XM_011510857.1:c.210G>T, XM_017003696.3:c.210G>T, XM_017003696.2:c.210G>T, XM_017003696.1:c.210G>T, XM_017003697.3:c.210G>T, XM_017003697.2:c.210G>T, XM_017003697.1:c.210G>T, XM_011510864.3:c.210G>T, XM_011510864.2:c.210G>T, XM_011510864.1:c.210G>T, XM_011510866.3:c.210G>T, XM_011510866.2:c.210G>T, XM_011510866.1:c.210G>T, XM_011510865.3:c.210G>T, XM_011510865.2:c.210G>T, XM_011510865.1:c.210G>T, XM_017003699.2:c.210G>T, XM_017003699.1:c.210G>T, XM_017003698.2:c.210G>T, XM_017003698.1:c.210G>T, XM_017003700.2:c.210G>T, XM_017003700.1:c.210G>T, XM_047443799.1:c.210G>T, XM_047443800.1:c.210G>T

Select item 148465521619.

rs1484655216 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCC>- [Show Flanks]
Chromosome:: 2:219559362 (GRCh38)
2:220424084 (GRCh37)
Canonical SPDI:: NC_000002.12:219559357:CTCCTCC:CTCC
Gene:: OBSL1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCC=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
-=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000002.12:g.219559359TCC[1], NC_000002.11:g.220424081TCC[1], NG_016977.1:g.17184GAG[1], NM_015311.3:c.3088GAG[1], NM_015311.2:c.3088GAG[1], NM_001173431.2:c.3088GAG[1], NM_001173431.1:c.3088GAG[1], XM_011510863.4:c.3088GAG[1], XM_011510863.3:c.3088GAG[1], XM_011510863.2:c.3088GAG[1], XM_011510863.1:c.3088GAG[1], XM_011510857.3:c.3088GAG[1], XM_011510857.2:c.3088GAG[1], XM_011510857.1:c.3088GAG[1], XM_017003696.3:c.3088GAG[1], XM_017003696.2:c.3088GAG[1], XM_017003696.1:c.3088GAG[1], XM_017003697.3:c.3088GAG[1], XM_017003697.2:c.3088GAG[1], XM_017003697.1:c.3088GAG[1], XM_011510864.3:c.3088GAG[1], XM_011510864.2:c.3088GAG[1], XM_011510864.1:c.3088GAG[1], XM_011510866.3:c.3088GAG[1], XM_011510866.2:c.3088GAG[1], XM_011510866.1:c.3088GAG[1], XM_011510865.3:c.3088GAG[1], XM_011510865.2:c.3088GAG[1], XM_011510865.1:c.3088GAG[1], XM_017003699.2:c.3088GAG[1], XM_017003699.1:c.3088GAG[1], XM_017003698.2:c.3088GAG[1], XM_017003698.1:c.3088GAG[1], XM_017003700.2:c.3088GAG[1], XM_017003700.1:c.3088GAG[1], XM_047443799.1:c.3088GAG[1], XM_047443800.1:c.3088GAG[1], NP_056126.1:p.Glu1031del, NP_001166902.1:p.Glu1031del, XP_011509165.1:p.Glu1031del, XP_011509159.1:p.Glu1031del, XP_016859185.1:p.Glu1031del, XP_016859186.1:p.Glu1031del, XP_011509166.1:p.Glu1031del, XP_011509168.1:p.Glu1031del, XP_011509167.1:p.Glu1031del, XP_016859188.1:p.Glu1031del, XP_016859187.1:p.Glu1031del, XP_016859189.1:p.Glu1031del, XP_047299755.1:p.Glu1031del, XP_047299756.1:p.Glu1031del

Select item 148459227420.

rs1484592274 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:219562555 (GRCh38)
2:220427277 (GRCh37)
Canonical SPDI:: NC_000002.12:219562554:C:A
Gene:: OBSL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000034/9 (TOPMED)
A=0.000043/6 (GnomAD)
HGVS:: NC_000002.12:g.219562555C>A, NC_000002.11:g.220427277C>A, NG_016977.1:g.13992G>T, NM_015311.3:c.2800G>T, NM_015311.2:c.2800G>T, NM_001173431.2:c.2800G>T, NM_001173431.1:c.2800G>T, NM_001173408.2:c.2800G>T, NM_001173408.1:c.2800G>T, XM_011510863.4:c.2800G>T, XM_011510863.3:c.2800G>T, XM_011510863.2:c.2800G>T, XM_011510863.1:c.2800G>T, XM_011510857.3:c.2800G>T, XM_011510857.2:c.2800G>T, XM_011510857.1:c.2800G>T, XM_017003696.3:c.2800G>T, XM_017003696.2:c.2800G>T, XM_017003696.1:c.2800G>T, XM_017003697.3:c.2800G>T, XM_017003697.2:c.2800G>T, XM_017003697.1:c.2800G>T, XM_011510864.3:c.2800G>T, XM_011510864.2:c.2800G>T, XM_011510864.1:c.2800G>T, XM_011510866.3:c.2800G>T, XM_011510866.2:c.2800G>T, XM_011510866.1:c.2800G>T, XM_011510865.3:c.2800G>T, XM_011510865.2:c.2800G>T, XM_011510865.1:c.2800G>T, XM_017003699.2:c.2800G>T, XM_017003699.1:c.2800G>T, XM_017003698.2:c.2800G>T, XM_017003698.1:c.2800G>T, XM_017003700.2:c.2800G>T, XM_017003700.1:c.2800G>T, XM_047443799.1:c.2800G>T, XM_047443800.1:c.2800G>T, NP_056126.1:p.Asp934Tyr, NP_001166902.1:p.Asp934Tyr, NP_001166879.1:p.Asp934Tyr, XP_011509165.1:p.Asp934Tyr, XP_011509159.1:p.Asp934Tyr, XP_016859185.1:p.Asp934Tyr, XP_016859186.1:p.Asp934Tyr, XP_011509166.1:p.Asp934Tyr, XP_011509168.1:p.Asp934Tyr, XP_011509167.1:p.Asp934Tyr, XP_016859188.1:p.Asp934Tyr, XP_016859187.1:p.Asp934Tyr, XP_016859189.1:p.Asp934Tyr, XP_047299755.1:p.Asp934Tyr, XP_047299756.1:p.Asp934Tyr

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