SNP Links for Protein (Select 166235138) - SNP

Select item 14907609861.

rs1490760986 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 16:29895267 (GRCh38)
16:29906588 (GRCh37)
Canonical SPDI:: NC_000016.10:29895266:T:A,NC_000016.10:29895266:T:C
Gene:: SEZ6L2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (GnomAD)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.29895267T>A, NC_000016.10:g.29895267T>C, NC_000016.9:g.29906588T>A, NC_000016.9:g.29906588T>C, NG_029737.2:g.8998A>T, NG_029737.2:g.8998A>G, NM_201575.4:c.845A>T, NM_201575.4:c.845A>G, NM_201575.3:c.845A>T, NM_201575.3:c.845A>G, NM_012410.4:c.635A>T, NM_012410.4:c.635A>G, NM_012410.3:c.635A>T, NM_012410.3:c.635A>G, NM_001114099.3:c.635A>T, NM_001114099.3:c.635A>G, NM_001114099.2:c.635A>T, NM_001114099.2:c.635A>G, NM_001243332.2:c.845A>T, NM_001243332.2:c.845A>G, NM_001243332.1:c.845A>T, NM_001243332.1:c.845A>G, NM_001243333.2:c.713A>T, NM_001243333.2:c.713A>G, NM_001243333.1:c.713A>T, NM_001243333.1:c.713A>G, NM_001388364.1:c.845A>T, NM_001388364.1:c.845A>G, NM_001388365.1:c.845A>T, NM_001388365.1:c.845A>G, NP_963869.2:p.His282Leu, NP_963869.2:p.His282Arg, NP_036542.1:p.His212Leu, NP_036542.1:p.His212Arg, NP_001107571.1:p.His212Leu, NP_001107571.1:p.His212Arg, NP_001230261.1:p.His282Leu, NP_001230261.1:p.His282Arg, NP_001230262.1:p.His238Leu, NP_001230262.1:p.His238Arg, NP_001375293.1:p.His282Leu, NP_001375293.1:p.His282Arg, NP_001375294.1:p.His282Leu, NP_001375294.1:p.His282Arg

Select item 14890266692.

rs1489026669 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 16:29887800 (GRCh38)
16:29899121 (GRCh37)
Canonical SPDI:: NC_000016.10:29887799:T:A
Gene:: SEZ6L2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.29887800T>A, NC_000016.9:g.29899121T>A, NG_029737.2:g.16465A>T, NM_201575.4:c.1057A>T, NM_201575.3:c.1057A>T, NM_012410.4:c.847A>T, NM_012410.3:c.847A>T, NM_001114099.3:c.847A>T, NM_001114099.2:c.847A>T, NM_001114100.3:c.715A>T, NM_001114100.2:c.715A>T, NM_001243332.2:c.1057A>T, NM_001243332.1:c.1057A>T, NM_001243333.2:c.925A>T, NM_001243333.1:c.925A>T, NM_001388364.1:c.1057A>T, NM_001388365.1:c.1057A>T, NM_001388363.1:c.715A>T, NP_963869.2:p.Ile353Phe, NP_036542.1:p.Ile283Phe, NP_001107571.1:p.Ile283Phe, NP_001107572.1:p.Ile239Phe, NP_001230261.1:p.Ile353Phe, NP_001230262.1:p.Ile309Phe, NP_001375293.1:p.Ile353Phe, NP_001375294.1:p.Ile353Phe, NP_001375292.1:p.Ile239Phe

Select item 14878454763.

rs1487845476 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:29876870 (GRCh38)
16:29888191 (GRCh37)
Canonical SPDI:: NC_000016.10:29876869:G:A
Gene:: SEZ6L2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000016.10:g.29876870G>A, NC_000016.9:g.29888191G>A, NG_029737.2:g.27395C>T, NM_201575.4:c.1990C>T, NM_201575.3:c.1990C>T, NM_012410.4:c.1780C>T, NM_012410.3:c.1780C>T, NM_001114099.3:c.1780C>T, NM_001114099.2:c.1780C>T, NM_001114100.3:c.1648C>T, NM_001114100.2:c.1648C>T, NM_001243332.2:c.1990C>T, NM_001243332.1:c.1990C>T, NM_001243333.2:c.1858C>T, NM_001243333.1:c.1858C>T, NM_001388364.1:c.1990C>T, NM_001388365.1:c.1789C>T, NM_001388363.1:c.1648C>T, NP_963869.2:p.Arg664Trp, NP_036542.1:p.Arg594Trp, NP_001107571.1:p.Arg594Trp, NP_001107572.1:p.Arg550Trp, NP_001230261.1:p.Arg664Trp, NP_001230262.1:p.Arg620Trp, NP_001375293.1:p.Arg664Trp, NP_001375294.1:p.Arg597Trp, NP_001375292.1:p.Arg550Trp

Select item 14863405464.

rs1486340546 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:29880045 (GRCh38)
16:29891366 (GRCh37)
Canonical SPDI:: NC_000016.10:29880044:G:A
Gene:: SEZ6L2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.29880045G>A, NC_000016.9:g.29891366G>A, NG_029737.2:g.24220C>T, NM_201575.4:c.1392C>T, NM_201575.3:c.1392C>T, NM_012410.4:c.1182C>T, NM_012410.3:c.1182C>T, NM_001114099.3:c.1182C>T, NM_001114099.2:c.1182C>T, NM_001114100.3:c.1050C>T, NM_001114100.2:c.1050C>T, NM_001243332.2:c.1392C>T, NM_001243332.1:c.1392C>T, NM_001243333.2:c.1260C>T, NM_001243333.1:c.1260C>T, NM_001388364.1:c.1392C>T, NM_001388363.1:c.1050C>T

Select item 14850121925.

rs1485012192 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:29873686 (GRCh38)
16:29885007 (GRCh37)
Canonical SPDI:: NC_000016.10:29873685:G:A
Gene:: SEZ6L2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.29873686G>A, NC_000016.9:g.29885007G>A, NG_029737.2:g.30579C>T, NM_201575.4:c.2148C>T, NM_201575.3:c.2148C>T, NM_012410.4:c.1938C>T, NM_012410.3:c.1938C>T, NM_001114099.3:c.1938C>T, NM_001114099.2:c.1938C>T, NM_001114100.3:c.1806C>T, NM_001114100.2:c.1806C>T, NM_001243332.2:c.2148C>T, NM_001243332.1:c.2148C>T, NM_001243333.2:c.2016C>T, NM_001243333.1:c.2016C>T, NM_001388364.1:c.2148C>T, NM_001388365.1:c.1947C>T, NM_001388363.1:c.1806C>T

Select item 14847187056.

rs1484718705 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 16:29880016 (GRCh38)
16:29891337 (GRCh37)
Canonical SPDI:: NC_000016.10:29880015:A:T
Gene:: SEZ6L2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.29880016A>T, NC_000016.9:g.29891337A>T, NG_029737.2:g.24249T>A, NM_201575.4:c.1421T>A, NM_201575.3:c.1421T>A, NM_012410.4:c.1211T>A, NM_012410.3:c.1211T>A, NM_001114099.3:c.1211T>A, NM_001114099.2:c.1211T>A, NM_001114100.3:c.1079T>A, NM_001114100.2:c.1079T>A, NM_001243332.2:c.1421T>A, NM_001243332.1:c.1421T>A, NM_001243333.2:c.1289T>A, NM_001243333.1:c.1289T>A, NM_001388364.1:c.1421T>A, NM_001388363.1:c.1079T>A, NP_963869.2:p.Val474Asp, NP_036542.1:p.Val404Asp, NP_001107571.1:p.Val404Asp, NP_001107572.1:p.Val360Asp, NP_001230261.1:p.Val474Asp, NP_001230262.1:p.Val430Asp, NP_001375293.1:p.Val474Asp, NP_001375292.1:p.Val360Asp

Select item 14842927287.

rs1484292728 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:29888648 (GRCh38)
16:29899969 (GRCh37)
Canonical SPDI:: NC_000016.10:29888647:T:C
Gene:: SEZ6L2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000016.10:g.29888648T>C, NC_000016.9:g.29899969T>C, NG_029737.2:g.15617A>G, NM_201575.4:c.931A>G, NM_201575.3:c.931A>G, NM_012410.4:c.721A>G, NM_012410.3:c.721A>G, NM_001114099.3:c.721A>G, NM_001114099.2:c.721A>G, NM_001114100.3:c.589A>G, NM_001114100.2:c.589A>G, NM_001243332.2:c.931A>G, NM_001243332.1:c.931A>G, NM_001243333.2:c.799A>G, NM_001243333.1:c.799A>G, NM_001388364.1:c.931A>G, NM_001388365.1:c.931A>G, NM_001388363.1:c.589A>G, NP_963869.2:p.Thr311Ala, NP_036542.1:p.Thr241Ala, NP_001107571.1:p.Thr241Ala, NP_001107572.1:p.Thr197Ala, NP_001230261.1:p.Thr311Ala, NP_001230262.1:p.Thr267Ala, NP_001375293.1:p.Thr311Ala, NP_001375294.1:p.Thr311Ala, NP_001375292.1:p.Thr197Ala

Select item 14824378098.

rs1482437809 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:29872477 (GRCh38)
16:29883798 (GRCh37)
Canonical SPDI:: NC_000016.10:29872476:G:A
Gene:: SEZ6L2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.29872477G>A, NC_000016.9:g.29883798G>A, NG_029737.2:g.31788C>T, NM_201575.4:c.2538C>T, NM_201575.3:c.2538C>T, NM_012410.4:c.2367C>T, NM_012410.3:c.2367C>T, NM_001114099.3:c.2328C>T, NM_001114099.2:c.2328C>T, NM_001114100.3:c.2235C>T, NM_001114100.2:c.2235C>T, NM_001243332.2:c.2577C>T, NM_001243332.1:c.2577C>T, NM_001243333.2:c.2445C>T, NM_001243333.1:c.2445C>T, NM_001388364.1:c.2385C>T, NM_001388365.1:c.2376C>T, NM_001388363.1:c.2196C>T

Select item 14774916959.

rs1477491695 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:29876779 (GRCh38)
16:29888100 (GRCh37)
Canonical SPDI:: NC_000016.10:29876778:G:T
Gene:: SEZ6L2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.29876779G>T, NC_000016.9:g.29888100G>T, NG_029737.2:g.27486C>A, NM_201575.4:c.2081C>A, NM_201575.3:c.2081C>A, NM_012410.4:c.1871C>A, NM_012410.3:c.1871C>A, NM_001114099.3:c.1871C>A, NM_001114099.2:c.1871C>A, NM_001114100.3:c.1739C>A, NM_001114100.2:c.1739C>A, NM_001243332.2:c.2081C>A, NM_001243332.1:c.2081C>A, NM_001243333.2:c.1949C>A, NM_001243333.1:c.1949C>A, NM_001388364.1:c.2081C>A, NM_001388365.1:c.1880C>A, NM_001388363.1:c.1739C>A, NP_963869.2:p.Ala694Asp, NP_036542.1:p.Ala624Asp, NP_001107571.1:p.Ala624Asp, NP_001107572.1:p.Ala580Asp, NP_001230261.1:p.Ala694Asp, NP_001230262.1:p.Ala650Asp, NP_001375293.1:p.Ala694Asp, NP_001375294.1:p.Ala627Asp, NP_001375292.1:p.Ala580Asp

Select item 147703901910.

rs1477039019 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:29873255 (GRCh38)
16:29884576 (GRCh37)
Canonical SPDI:: NC_000016.10:29873254:G:A
Gene:: SEZ6L2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.29873255G>A, NC_000016.9:g.29884576G>A, NG_029737.2:g.31010C>T, NM_201575.4:c.2473C>T, NM_201575.3:c.2473C>T, NM_012410.4:c.2263C>T, NM_012410.3:c.2263C>T, NM_001114099.3:c.2263C>T, NM_001114099.2:c.2263C>T, NM_001114100.3:c.2131C>T, NM_001114100.2:c.2131C>T, NM_001243332.2:c.2473C>T, NM_001243332.1:c.2473C>T, NM_001243333.2:c.2341C>T, NM_001243333.1:c.2341C>T, NM_001388365.1:c.2272C>T, NM_001388363.1:c.2131C>T, NP_963869.2:p.Pro825Ser, NP_036542.1:p.Pro755Ser, NP_001107571.1:p.Pro755Ser, NP_001107572.1:p.Pro711Ser, NP_001230261.1:p.Pro825Ser, NP_001230262.1:p.Pro781Ser, NP_001375294.1:p.Pro758Ser, NP_001375292.1:p.Pro711Ser

Select item 147645598311.

rs1476455983 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:29877414 (GRCh38)
16:29888735 (GRCh37)
Canonical SPDI:: NC_000016.10:29877413:C:A,NC_000016.10:29877413:C:T
Gene:: SEZ6L2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000016.10:g.29877414C>A, NC_000016.10:g.29877414C>T, NC_000016.9:g.29888735C>A, NC_000016.9:g.29888735C>T, NG_029737.2:g.26851G>T, NG_029737.2:g.26851G>A, NM_201575.4:c.1766G>T, NM_201575.4:c.1766G>A, NM_201575.3:c.1766G>T, NM_201575.3:c.1766G>A, NM_012410.4:c.1556G>T, NM_012410.4:c.1556G>A, NM_012410.3:c.1556G>T, NM_012410.3:c.1556G>A, NM_001114099.3:c.1556G>T, NM_001114099.3:c.1556G>A, NM_001114099.2:c.1556G>T, NM_001114099.2:c.1556G>A, NM_001114100.3:c.1424G>T, NM_001114100.3:c.1424G>A, NM_001114100.2:c.1424G>T, NM_001114100.2:c.1424G>A, NM_001243332.2:c.1766G>T, NM_001243332.2:c.1766G>A, NM_001243332.1:c.1766G>T, NM_001243332.1:c.1766G>A, NM_001243333.2:c.1634G>T, NM_001243333.2:c.1634G>A, NM_001243333.1:c.1634G>T, NM_001243333.1:c.1634G>A, NM_001388364.1:c.1766G>T, NM_001388364.1:c.1766G>A, NM_001388365.1:c.1565G>T, NM_001388365.1:c.1565G>A, NM_001388363.1:c.1424G>T, NM_001388363.1:c.1424G>A, NP_963869.2:p.Ser589Ile, NP_963869.2:p.Ser589Asn, NP_036542.1:p.Ser519Ile, NP_036542.1:p.Ser519Asn, NP_001107571.1:p.Ser519Ile, NP_001107571.1:p.Ser519Asn, NP_001107572.1:p.Ser475Ile, NP_001107572.1:p.Ser475Asn, NP_001230261.1:p.Ser589Ile, NP_001230261.1:p.Ser589Asn, NP_001230262.1:p.Ser545Ile, NP_001230262.1:p.Ser545Asn, NP_001375293.1:p.Ser589Ile, NP_001375293.1:p.Ser589Asn, NP_001375294.1:p.Ser522Ile, NP_001375294.1:p.Ser522Asn, NP_001375292.1:p.Ser475Ile, NP_001375292.1:p.Ser475Asn

Select item 147632316512.

rs1476323165 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:29897891 (GRCh38)
16:29909212 (GRCh37)
Canonical SPDI:: NC_000016.10:29897890:G:A
Gene:: SEZ6L2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.29897891G>A, NC_000016.9:g.29909212G>A, NG_029737.2:g.6374C>T, NM_201575.4:c.173C>T, NM_201575.3:c.173C>T, NM_012410.4:c.173C>T, NM_012410.3:c.173C>T, NM_001114099.3:c.173C>T, NM_001114099.2:c.173C>T, NM_001114100.3:c.173C>T, NM_001114100.2:c.173C>T, NM_001243332.2:c.173C>T, NM_001243332.1:c.173C>T, NM_001388364.1:c.173C>T, NM_001388365.1:c.173C>T, NM_001388363.1:c.173C>T, NP_963869.2:p.Ala58Val, NP_036542.1:p.Ala58Val, NP_001107571.1:p.Ala58Val, NP_001107572.1:p.Ala58Val, NP_001230261.1:p.Ala58Val, NP_001375293.1:p.Ala58Val, NP_001375294.1:p.Ala58Val, NP_001375292.1:p.Ala58Val

Select item 147618752213.

rs1476187522 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 16:29895749 (GRCh38)
16:29907070 (GRCh37)
Canonical SPDI:: NC_000016.10:29895748:A:T
Gene:: SEZ6L2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
HGVS:: NC_000016.10:g.29895749A>T, NC_000016.9:g.29907070A>T, NG_029737.2:g.8516T>A, NM_201575.4:c.623T>A, NM_201575.3:c.623T>A, NM_012410.4:c.413T>A, NM_012410.3:c.413T>A, NM_001114099.3:c.413T>A, NM_001114099.2:c.413T>A, NM_001243332.2:c.623T>A, NM_001243332.1:c.623T>A, NM_001243333.2:c.491T>A, NM_001243333.1:c.491T>A, NM_001388364.1:c.623T>A, NM_001388365.1:c.623T>A, NP_963869.2:p.Val208Asp, NP_036542.1:p.Val138Asp, NP_001107571.1:p.Val138Asp, NP_001230261.1:p.Val208Asp, NP_001230262.1:p.Val164Asp, NP_001375293.1:p.Val208Asp, NP_001375294.1:p.Val208Asp

Select item 147606711614.

rs1476067116 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:29877363 (GRCh38)
16:29888684 (GRCh37)
Canonical SPDI:: NC_000016.10:29877362:A:G
Gene:: SEZ6L2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.29877363A>G, NC_000016.9:g.29888684A>G, NG_029737.2:g.26902T>C, NM_201575.4:c.1817T>C, NM_201575.3:c.1817T>C, NM_012410.4:c.1607T>C, NM_012410.3:c.1607T>C, NM_001114099.3:c.1607T>C, NM_001114099.2:c.1607T>C, NM_001114100.3:c.1475T>C, NM_001114100.2:c.1475T>C, NM_001243332.2:c.1817T>C, NM_001243332.1:c.1817T>C, NM_001243333.2:c.1685T>C, NM_001243333.1:c.1685T>C, NM_001388364.1:c.1817T>C, NM_001388365.1:c.1616T>C, NM_001388363.1:c.1475T>C, NP_963869.2:p.Leu606Pro, NP_036542.1:p.Leu536Pro, NP_001107571.1:p.Leu536Pro, NP_001107572.1:p.Leu492Pro, NP_001230261.1:p.Leu606Pro, NP_001230262.1:p.Leu562Pro, NP_001375293.1:p.Leu606Pro, NP_001375294.1:p.Leu539Pro, NP_001375292.1:p.Leu492Pro

Select item 147594321415.

rs1475943214 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:29895847 (GRCh38)
16:29907168 (GRCh37)
Canonical SPDI:: NC_000016.10:29895846:G:A
Gene:: SEZ6L2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.29895847G>A, NC_000016.9:g.29907168G>A, NG_029737.2:g.8418C>T, NM_201575.4:c.525C>T, NM_201575.3:c.525C>T, NM_012410.4:c.315C>T, NM_012410.3:c.315C>T, NM_001114099.3:c.315C>T, NM_001114099.2:c.315C>T, NM_001243332.2:c.525C>T, NM_001243332.1:c.525C>T, NM_001243333.2:c.393C>T, NM_001243333.1:c.393C>T, NM_001388364.1:c.525C>T, NM_001388365.1:c.525C>T

Select item 147560880216.

rs1475608802 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:29895330 (GRCh38)
16:29906651 (GRCh37)
Canonical SPDI:: NC_000016.10:29895329:G:A
Gene:: SEZ6L2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_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_000016.10:g.29895330G>A, NC_000016.9:g.29906651G>A, NG_029737.2:g.8935C>T, NM_201575.4:c.782C>T, NM_201575.3:c.782C>T, NM_012410.4:c.572C>T, NM_012410.3:c.572C>T, NM_001114099.3:c.572C>T, NM_001114099.2:c.572C>T, NM_001243332.2:c.782C>T, NM_001243332.1:c.782C>T, NM_001243333.2:c.650C>T, NM_001243333.1:c.650C>T, NM_001388364.1:c.782C>T, NM_001388365.1:c.782C>T, NP_963869.2:p.Thr261Ile, NP_036542.1:p.Thr191Ile, NP_001107571.1:p.Thr191Ile, NP_001230261.1:p.Thr261Ile, NP_001230262.1:p.Thr217Ile, NP_001375293.1:p.Thr261Ile, NP_001375294.1:p.Thr261Ile

Select item 147449644317.

rs1474496443 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:29873641 (GRCh38)
16:29884962 (GRCh37)
Canonical SPDI:: NC_000016.10:29873640:G:A
Gene:: SEZ6L2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000012/3 (GnomAD_exomes)
A=0.000342/1 (KOREAN)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000016.10:g.29873641G>A, NC_000016.9:g.29884962G>A, NG_029737.2:g.30624C>T, NM_201575.4:c.2193C>T, NM_201575.3:c.2193C>T, NM_012410.4:c.1983C>T, NM_012410.3:c.1983C>T, NM_001114099.3:c.1983C>T, NM_001114099.2:c.1983C>T, NM_001114100.3:c.1851C>T, NM_001114100.2:c.1851C>T, NM_001243332.2:c.2193C>T, NM_001243332.1:c.2193C>T, NM_001243333.2:c.2061C>T, NM_001243333.1:c.2061C>T, NM_001388364.1:c.2193C>T, NM_001388365.1:c.1992C>T, NM_001388363.1:c.1851C>T

Select item 147394182018.

rs1473941820 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:29878357 (GRCh38)
16:29889678 (GRCh37)
Canonical SPDI:: NC_000016.10:29878356:T:C
Gene:: SEZ6L2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.29878357T>C, NC_000016.9:g.29889678T>C, NG_029737.2:g.25908A>G, NM_201575.4:c.1642A>G, NM_201575.3:c.1642A>G, NM_012410.4:c.1432A>G, NM_012410.3:c.1432A>G, NM_001114099.3:c.1432A>G, NM_001114099.2:c.1432A>G, NM_001114100.3:c.1300A>G, NM_001114100.2:c.1300A>G, NM_001243332.2:c.1642A>G, NM_001243332.1:c.1642A>G, NM_001243333.2:c.1510A>G, NM_001243333.1:c.1510A>G, NM_001388364.1:c.1642A>G, NM_001388365.1:c.1441A>G, NM_001388363.1:c.1300A>G, NP_963869.2:p.Ser548Gly, NP_036542.1:p.Ser478Gly, NP_001107571.1:p.Ser478Gly, NP_001107572.1:p.Ser434Gly, NP_001230261.1:p.Ser548Gly, NP_001230262.1:p.Ser504Gly, NP_001375293.1:p.Ser548Gly, NP_001375294.1:p.Ser481Gly, NP_001375292.1:p.Ser434Gly

Select item 147256071119.

rs1472560711 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 16:29897979 (GRCh38)
16:29909300 (GRCh37)
Canonical SPDI:: NC_000016.10:29897978:G:A,NC_000016.10:29897978:G:C
Gene:: SEZ6L2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.29897979G>A, NC_000016.10:g.29897979G>C, NC_000016.9:g.29909300G>A, NC_000016.9:g.29909300G>C, NG_029737.2:g.6286C>T, NG_029737.2:g.6286C>G, NM_201575.4:c.85C>T, NM_201575.4:c.85C>G, NM_201575.3:c.85C>T, NM_201575.3:c.85C>G, NM_012410.4:c.85C>T, NM_012410.4:c.85C>G, NM_012410.3:c.85C>T, NM_012410.3:c.85C>G, NM_001114099.3:c.85C>T, NM_001114099.3:c.85C>G, NM_001114099.2:c.85C>T, NM_001114099.2:c.85C>G, NM_001114100.3:c.85C>T, NM_001114100.3:c.85C>G, NM_001114100.2:c.85C>T, NM_001114100.2:c.85C>G, NM_001243332.2:c.85C>T, NM_001243332.2:c.85C>G, NM_001243332.1:c.85C>T, NM_001243332.1:c.85C>G, NM_001388364.1:c.85C>T, NM_001388364.1:c.85C>G, NM_001388365.1:c.85C>T, NM_001388365.1:c.85C>G, NM_001388363.1:c.85C>T, NM_001388363.1:c.85C>G, NP_963869.2:p.Pro29Ser, NP_963869.2:p.Pro29Ala, NP_036542.1:p.Pro29Ser, NP_036542.1:p.Pro29Ala, NP_001107571.1:p.Pro29Ser, NP_001107571.1:p.Pro29Ala, NP_001107572.1:p.Pro29Ser, NP_001107572.1:p.Pro29Ala, NP_001230261.1:p.Pro29Ser, NP_001230261.1:p.Pro29Ala, NP_001375293.1:p.Pro29Ser, NP_001375293.1:p.Pro29Ala, NP_001375294.1:p.Pro29Ser, NP_001375294.1:p.Pro29Ala, NP_001375292.1:p.Pro29Ser, NP_001375292.1:p.Pro29Ala

Select item 147248427120.

rs1472484271 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 16:29899010 (GRCh38)
16:29910331 (GRCh37)
Canonical SPDI:: NC_000016.10:29899009:G:A,NC_000016.10:29899009:G:T
Gene:: SEZ6L2 (Varview), ASPHD1 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000016.10:g.29899010G>A, NC_000016.10:g.29899010G>T, NC_000016.9:g.29910331G>A, NC_000016.9:g.29910331G>T, NG_029737.2:g.5255C>T, NG_029737.2:g.5255C>A, NM_201575.4:c.10C>T, NM_201575.4:c.10C>A, NM_201575.3:c.10C>T, NM_201575.3:c.10C>A, NM_012410.4:c.10C>T, NM_012410.4:c.10C>A, NM_012410.3:c.10C>T, NM_012410.3:c.10C>A, NM_001114099.3:c.10C>T, NM_001114099.3:c.10C>A, NM_001114099.2:c.10C>T, NM_001114099.2:c.10C>A, NM_001114100.3:c.10C>T, NM_001114100.3:c.10C>A, NM_001114100.2:c.10C>T, NM_001114100.2:c.10C>A, NM_001243332.2:c.10C>T, NM_001243332.2:c.10C>A, NM_001243332.1:c.10C>T, NM_001243332.1:c.10C>A, NM_001243333.2:c.10C>T, NM_001243333.2:c.10C>A, NM_001243333.1:c.10C>T, NM_001243333.1:c.10C>A, NM_001388364.1:c.10C>T, NM_001388364.1:c.10C>A, NM_001388365.1:c.10C>T, NM_001388365.1:c.10C>A, NM_001388363.1:c.10C>T, NM_001388363.1:c.10C>A, NP_963869.2:p.Pro4Ser, NP_963869.2:p.Pro4Thr, NP_036542.1:p.Pro4Ser, NP_036542.1:p.Pro4Thr, NP_001107571.1:p.Pro4Ser, NP_001107571.1:p.Pro4Thr, NP_001107572.1:p.Pro4Ser, NP_001107572.1:p.Pro4Thr, NP_001230261.1:p.Pro4Ser, NP_001230261.1:p.Pro4Thr, NP_001230262.1:p.Pro4Ser, NP_001230262.1:p.Pro4Thr, NP_001375293.1:p.Pro4Ser, NP_001375293.1:p.Pro4Thr, NP_001375294.1:p.Pro4Ser, NP_001375294.1:p.Pro4Thr, NP_001375292.1:p.Pro4Ser, NP_001375292.1:p.Pro4Thr

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dbSNP

Result Filters

Clinical Significance

Validation Status

Function Class

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Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Links from Protein

Items: 1 to 20 of 838

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