SNP Links for Nucleotide (Select 559098407) - SNP

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Links from Nucleotide

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Select item 14907343911.

rs1490734391 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 9:35101754 (GRCh38)
9:35101752 (GRCh37)
Canonical SPDI:: NC_000009.12:35101754:GG:GGG
Gene:: STOML2 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGG=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.35101756dup, NC_000009.11:g.35101753dup, NM_013442.3:c.399dup, NM_013442.2:c.399dup, NM_013442.1:c.399dup, NM_001287031.2:c.399dup, NM_001287031.1:c.399dup, NM_001287033.2:c.261dup, NM_001287033.1:c.261dup, NM_001287032.1:c.246dup, NP_038470.1:p.Met134fs, NP_001273960.1:p.Met134fs, NP_001273962.1:p.Met88fs, NP_001273961.1:p.Met83fs

Select item 14905713052.

rs1490571305 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:35102116 (GRCh38)
9:35102113 (GRCh37)
Canonical SPDI:: NC_000009.12:35102115:C:G
Gene:: STOML2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000008/2 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000009.12:g.35102116C>G, NC_000009.11:g.35102113C>G, NM_013442.3:c.262G>C, NM_013442.2:c.262G>C, NM_013442.1:c.262G>C, NM_001287031.2:c.262G>C, NM_001287031.1:c.262G>C, NM_001287033.2:c.124G>C, NM_001287033.1:c.124G>C, NM_001287032.1:c.109G>C, NP_038470.1:p.Glu88Gln, NP_001273960.1:p.Glu88Gln, NP_001273962.1:p.Glu42Gln, NP_001273961.1:p.Glu37Gln

Select item 14887496123.

rs1488749612 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:35100047 (GRCh38)
9:35100044 (GRCh37)
Canonical SPDI:: NC_000009.12:35100046:G:C
Gene:: STOML2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000012/3 (GnomAD_exomes)
C=0.000029/4 (GnomAD)
C=0.000102/27 (TOPMED)
HGVS:: NC_000009.12:g.35100047G>C, NC_000009.11:g.35100044G>C, NG_031990.1:g.1555C>G, NM_013442.3:c.1059C>G, NM_013442.2:c.1059C>G, NM_013442.1:c.1059C>G, NM_001287031.2:c.924C>G, NM_001287031.1:c.924C>G, NM_001287033.2:c.921C>G, NM_001287033.1:c.921C>G, NM_001287032.1:c.906C>G

Select item 14877977674.

rs1487797767 [Homo sapiens]

Variant type:: DEL
Alleles:: GGCCTGTTTCTTC>- [Show Flanks]
Chromosome:: 9:35101187 (GRCh38)
9:35101184 (GRCh37)
Canonical SPDI:: NC_000009.12:35101186:GGCCTGTTTCTTC:
Gene:: STOML2 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: -=0.000084/1 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.35101187_35101199del, NC_000009.11:g.35101184_35101196del, NG_031990.1:g.403_415del, NM_013442.3:c.660_672del, NM_013442.2:c.660_672del, NM_013442.1:c.660_672del, NM_001287031.2:c.525_537del, NM_001287031.1:c.525_537del, NM_001287033.2:c.522_534del, NM_001287033.1:c.522_534del, NM_001287032.1:c.507_519del, NP_038470.1:p.Lys221fs, NP_001273960.1:p.Lys176fs, NP_001273962.1:p.Lys175fs, NP_001273961.1:p.Lys170fs

Select item 14849902985.

rs1484990298 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 9:35101926 (GRCh38)
9:35101923 (GRCh37)
Canonical SPDI:: NC_000009.12:35101925:A:T
Gene:: STOML2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.35101926A>T, NC_000009.11:g.35101923A>T, NM_013442.3:c.320T>A, NM_013442.2:c.320T>A, NM_013442.1:c.320T>A, NM_001287031.2:c.320T>A, NM_001287031.1:c.320T>A, NM_001287033.2:c.182T>A, NM_001287033.1:c.182T>A, NM_001287032.1:c.167T>A, NP_038470.1:p.Leu107Gln, NP_001273960.1:p.Leu107Gln, NP_001273962.1:p.Leu61Gln, NP_001273961.1:p.Leu56Gln

Select item 14841929956.

rs1484192995 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 9:35099932 (GRCh38)
9:35099929 (GRCh37)
Canonical SPDI:: NC_000009.12:35099931:T:G
Gene:: STOML2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000009.12:g.35099932T>G, NC_000009.11:g.35099929T>G, NG_031990.1:g.1670A>C, NM_013442.3:c.*103A>C, NM_013442.2:c.*103A>C, NM_013442.1:c.*103A>C, NM_001287031.2:c.*103A>C, NM_001287031.1:c.*103A>C, NM_001287033.2:c.*103A>C, NM_001287033.1:c.*103A>C, NM_001287032.1:c.*103A>C

Select item 14836802917.

rs1483680291 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 9:35099809 (GRCh38)
9:35099806 (GRCh37)
Canonical SPDI:: NC_000009.12:35099808:T:A,NC_000009.12:35099808:T:C
Gene:: STOML2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000009.12:g.35099809T>A, NC_000009.12:g.35099809T>C, NC_000009.11:g.35099806T>A, NC_000009.11:g.35099806T>C, NG_031990.1:g.1793A>T, NG_031990.1:g.1793A>G, NM_013442.3:c.*226A>T, NM_013442.3:c.*226A>G, NM_013442.2:c.*226A>T, NM_013442.2:c.*226A>G, NM_001287031.2:c.*226A>T, NM_001287031.2:c.*226A>G, NM_001287031.1:c.*226A>T, NM_001287031.1:c.*226A>G, NM_001287033.2:c.*226A>T, NM_001287033.2:c.*226A>G, NM_001287033.1:c.*226A>T, NM_001287033.1:c.*226A>G, NM_001287032.1:c.*226A>T, NM_001287032.1:c.*226A>G

Select item 14800265268.

rs1480026526 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 9:35100052 (GRCh38)
9:35100049 (GRCh37)
Canonical SPDI:: NC_000009.12:35100051:G:A,NC_000009.12:35100051:G:C
Gene:: STOML2 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000009.12:g.35100052G>A, NC_000009.12:g.35100052G>C, NC_000009.11:g.35100049G>A, NC_000009.11:g.35100049G>C, NG_031990.1:g.1550C>T, NG_031990.1:g.1550C>G, NM_013442.3:c.1054C>T, NM_013442.3:c.1054C>G, NM_013442.2:c.1054C>T, NM_013442.2:c.1054C>G, NM_013442.1:c.1054C>T, NM_013442.1:c.1054C>G, NM_001287031.2:c.919C>T, NM_001287031.2:c.919C>G, NM_001287031.1:c.919C>T, NM_001287031.1:c.919C>G, NM_001287033.2:c.916C>T, NM_001287033.2:c.916C>G, NM_001287033.1:c.916C>T, NM_001287033.1:c.916C>G, NM_001287032.1:c.901C>T, NM_001287032.1:c.901C>G, NP_038470.1:p.Arg352Ter, NP_038470.1:p.Arg352Gly, NP_001273960.1:p.Arg307Ter, NP_001273960.1:p.Arg307Gly, NP_001273962.1:p.Arg306Ter, NP_001273962.1:p.Arg306Gly, NP_001273961.1:p.Arg301Ter, NP_001273961.1:p.Arg301Gly

Select item 14799712839.

rs1479971283 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:35100636 (GRCh38)
9:35100633 (GRCh37)
Canonical SPDI:: NC_000009.12:35100635:G:A
Gene:: STOML2 (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_000009.12:g.35100636G>A, NC_000009.11:g.35100633G>A, NG_031990.1:g.966C>T, NM_013442.3:c.895C>T, NM_013442.2:c.895C>T, NM_013442.1:c.895C>T, NM_001287031.2:c.760C>T, NM_001287031.1:c.760C>T, NM_001287033.2:c.757C>T, NM_001287033.1:c.757C>T, NM_001287032.1:c.742C>T, NP_038470.1:p.Pro299Ser, NP_001273960.1:p.Pro254Ser, NP_001273962.1:p.Pro253Ser, NP_001273961.1:p.Pro248Ser

Select item 147806282310.

rs1478062823 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 9:35102748 (GRCh38)
9:35102745 (GRCh37)
Canonical SPDI:: NC_000009.12:35102747:C:A,NC_000009.12:35102747:C:T
Gene:: STOML2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.35102748C>A, NC_000009.12:g.35102748C>T, NC_000009.11:g.35102745C>A, NC_000009.11:g.35102745C>T, NM_013442.3:c.121G>T, NM_013442.3:c.121G>A, NM_013442.2:c.121G>T, NM_013442.2:c.121G>A, NM_013442.1:c.121G>T, NM_013442.1:c.121G>A, NM_001287031.2:c.121G>T, NM_001287031.2:c.121G>A, NM_001287031.1:c.121G>T, NM_001287031.1:c.121G>A, NM_001287032.1:c.-33G>T, NM_001287032.1:c.-33G>A, NP_038470.1:p.Val41Leu, NP_038470.1:p.Val41Met, NP_001273960.1:p.Val41Leu, NP_001273960.1:p.Val41Met

Select item 147595899811.

rs1475958998 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:35101710 (GRCh38)
9:35101707 (GRCh37)
Canonical SPDI:: NC_000009.12:35101709:C:T
Gene:: STOML2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000009.12:g.35101710C>T, NC_000009.11:g.35101707C>T, NM_013442.3:c.444G>A, NM_013442.2:c.444G>A, NM_013442.1:c.444G>A, NM_001287031.2:c.444G>A, NM_001287031.1:c.444G>A, NM_001287033.2:c.306G>A, NM_001287033.1:c.306G>A, NM_001287032.1:c.291G>A

Select item 147563549712.

rs1475635497 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:35101138 (GRCh38)
9:35101135 (GRCh37)
Canonical SPDI:: NC_000009.12:35101137:C:T
Gene:: STOML2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.35101138C>T, NC_000009.11:g.35101135C>T, NG_031990.1:g.464G>A, NM_013442.3:c.721G>A, NM_013442.2:c.721G>A, NM_013442.1:c.721G>A, NM_001287031.2:c.586G>A, NM_001287031.1:c.586G>A, NM_001287033.2:c.583G>A, NM_001287033.1:c.583G>A, NM_001287032.1:c.568G>A, NP_038470.1:p.Ala241Thr, NP_001273960.1:p.Ala196Thr, NP_001273962.1:p.Ala195Thr, NP_001273961.1:p.Ala190Thr

Select item 147376129613.

rs1473761296 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 9:35101166 (GRCh38)
9:35101163 (GRCh37)
Canonical SPDI:: NC_000009.12:35101165:T:G
Gene:: STOML2 (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_000009.12:g.35101166T>G, NC_000009.11:g.35101163T>G, NG_031990.1:g.436A>C, NM_013442.3:c.693A>C, NM_013442.2:c.693A>C, NM_013442.1:c.693A>C, NM_001287031.2:c.558A>C, NM_001287031.1:c.558A>C, NM_001287033.2:c.555A>C, NM_001287033.1:c.555A>C, NM_001287032.1:c.540A>C

Select item 147146815314.

rs1471468153 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:35101723 (GRCh38)
9:35101720 (GRCh37)
Canonical SPDI:: NC_000009.12:35101722:T:C
Gene:: STOML2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.35101723T>C, NC_000009.11:g.35101720T>C, NM_013442.3:c.431A>G, NM_013442.2:c.431A>G, NM_013442.1:c.431A>G, NM_001287031.2:c.431A>G, NM_001287031.1:c.431A>G, NM_001287033.2:c.293A>G, NM_001287033.1:c.293A>G, NM_001287032.1:c.278A>G, NP_038470.1:p.Asp144Gly, NP_001273960.1:p.Asp144Gly, NP_001273962.1:p.Asp98Gly, NP_001273961.1:p.Asp93Gly

Select item 147074375815.

rs1470743758 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:35100693 (GRCh38)
9:35100690 (GRCh37)
Canonical SPDI:: NC_000009.12:35100692:C:T
Gene:: STOML2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.35100693C>T, NC_000009.11:g.35100690C>T, NG_031990.1:g.909G>A, NM_013442.3:c.838G>A, NM_013442.2:c.838G>A, NM_013442.1:c.838G>A, NM_001287031.2:c.703G>A, NM_001287031.1:c.703G>A, NM_001287033.2:c.700G>A, NM_001287033.1:c.700G>A, NM_001287032.1:c.685G>A, NP_038470.1:p.Glu280Lys, NP_001273960.1:p.Glu235Lys, NP_001273962.1:p.Glu234Lys, NP_001273961.1:p.Glu229Lys

Select item 147069425416.

rs1470694254 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:35101538 (GRCh38)
9:35101535 (GRCh37)
Canonical SPDI:: NC_000009.12:35101537:C:T
Gene:: STOML2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.35101538C>T, NC_000009.11:g.35101535C>T, NG_031990.1:g.64G>A, NM_013442.3:c.467G>A, NM_013442.2:c.467G>A, NM_013442.1:c.467G>A, NM_001287033.2:c.329G>A, NM_001287033.1:c.329G>A, NM_001287032.1:c.314G>A, NP_038470.1:p.Ser156Asn, NP_001273962.1:p.Ser110Asn, NP_001273961.1:p.Ser105Asn

Select item 147035618717.

rs1470356187 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 9:35101910 (GRCh38)
9:35101907 (GRCh37)
Canonical SPDI:: NC_000009.12:35101909:A:C
Gene:: STOML2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.35101910A>C, NC_000009.11:g.35101907A>C, NM_013442.3:c.336T>G, NM_013442.2:c.336T>G, NM_013442.1:c.336T>G, NM_001287031.2:c.336T>G, NM_001287031.1:c.336T>G, NM_001287033.2:c.198T>G, NM_001287033.1:c.198T>G, NM_001287032.1:c.183T>G

Select item 146688529218.

rs1466885292 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:35100082 (GRCh38)
9:35100079 (GRCh37)
Canonical SPDI:: NC_000009.12:35100081:T:C
Gene:: STOML2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.0002/1 (ALFA)
C=0.0002/1 (Estonian)
HGVS:: NC_000009.12:g.35100082T>C, NC_000009.11:g.35100079T>C, NG_031990.1:g.1520A>G, NM_013442.3:c.1024A>G, NM_013442.2:c.1024A>G, NM_013442.1:c.1024A>G, NM_001287031.2:c.889A>G, NM_001287031.1:c.889A>G, NM_001287033.2:c.886A>G, NM_001287033.1:c.886A>G, NM_001287032.1:c.871A>G, NP_038470.1:p.Thr342Ala, NP_001273960.1:p.Thr297Ala, NP_001273962.1:p.Thr296Ala, NP_001273961.1:p.Thr291Ala

Select item 146201263319.

rs1462012633 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:35101266 (GRCh38)
9:35101263 (GRCh37)
Canonical SPDI:: NC_000009.12:35101265:C:T
Gene:: STOML2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.35101266C>T, NC_000009.11:g.35101263C>T, NG_031990.1:g.336G>A, NM_013442.3:c.593G>A, NM_013442.2:c.593G>A, NM_013442.1:c.593G>A, NM_001287031.2:c.458G>A, NM_001287031.1:c.458G>A, NM_001287033.2:c.455G>A, NM_001287033.1:c.455G>A, NM_001287032.1:c.440G>A, NP_038470.1:p.Arg198Gln, NP_001273960.1:p.Arg153Gln, NP_001273962.1:p.Arg152Gln, NP_001273961.1:p.Arg147Gln

Select item 146091261420.

rs1460912614 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:35101235 (GRCh38)
9:35101232 (GRCh37)
Canonical SPDI:: NC_000009.12:35101234:C:T
Gene:: STOML2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.35101235C>T, NC_000009.11:g.35101232C>T, NG_031990.1:g.367G>A, NM_013442.3:c.624G>A, NM_013442.2:c.624G>A, NM_013442.1:c.624G>A, NM_001287031.2:c.489G>A, NM_001287031.1:c.489G>A, NM_001287033.2:c.486G>A, NM_001287033.1:c.486G>A, NM_001287032.1:c.471G>A

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