SNP Links for Gene (Select 346525) - SNP

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Select item 14909480011.

rs1490948001 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:144096114 (GRCh38)
7:143793207 (GRCh37)
Canonical SPDI:: NC_000007.14:144096113:T:C
Gene:: OR2A12 (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=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.144096114T>C, NC_000007.13:g.143793207T>C, NW_018654715.1:g.50680T>C, NM_001004135.2:c.*74T>C

Select item 14904564442.

rs1490456444 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:144095703 (GRCh38)
7:143792796 (GRCh37)
Canonical SPDI:: NC_000007.14:144095702:T:C
Gene:: OR2A12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.144095703T>C, NC_000007.13:g.143792796T>C, NW_018654715.1:g.50269T>C, NM_001004135.2:c.596T>C, NM_001004135.1:c.596T>C, NP_001004135.1:p.Phe199Ser

Select item 14882959393.

rs1488295939 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:144095840 (GRCh38)
7:143792933 (GRCh37)
Canonical SPDI:: NC_000007.14:144095839:T:C
Gene:: OR2A12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.144095840T>C, NC_000007.13:g.143792933T>C, NW_018654715.1:g.50406T>C, NM_001004135.2:c.733T>C, NM_001004135.1:c.733T>C, NP_001004135.1:p.Cys245Arg

Select item 14863096464.

rs1486309646 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:144095560 (GRCh38)
7:143792653 (GRCh37)
Canonical SPDI:: NC_000007.14:144095559:C:G
Gene:: OR2A12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.144095560C>G, NC_000007.13:g.143792653C>G, NW_018654715.1:g.50126C>G, NM_001004135.2:c.453C>G, NM_001004135.1:c.453C>G, NP_001004135.1:p.Ser151Arg

Select item 14858729435.

rs1485872943 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:144095278 (GRCh38)
7:143792371 (GRCh37)
Canonical SPDI:: NC_000007.14:144095277:C:T
Gene:: OR2A12 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.144095278C>T, NC_000007.13:g.143792371C>T, NW_018654715.1:g.49844C>T, NM_001004135.2:c.171C>T, NM_001004135.1:c.171C>T

Select item 14839040726.

rs1483904072 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:144095888 (GRCh38)
7:143792981 (GRCh37)
Canonical SPDI:: NC_000007.14:144095887:C:T
Gene:: OR2A12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.144095888C>T, NC_000007.13:g.143792981C>T, NW_018654715.1:g.50454C>T, NM_001004135.2:c.781C>T, NM_001004135.1:c.781C>T, NP_001004135.1:p.Pro261Ser

Select item 14838869647.

rs1483886964 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:144093546 (GRCh38)
7:143790639 (GRCh37)
Canonical SPDI:: NC_000007.14:144093545:T:A
Gene:: OR2A12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.144093546T>A, NC_000007.13:g.143790639T>A, NW_018654715.1:g.48112T>A

Select item 14828982438.

rs1482898243 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:144093108 (GRCh38)
7:143790201 (GRCh37)
Canonical SPDI:: NC_000007.14:144093107:A:G
Gene:: OR2A12 (Varview)
Functional Consequence:: intron_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_000007.14:g.144093108A>G, NC_000007.13:g.143790201A>G, NW_018654715.1:g.47674A>G

Select item 14828887569.

rs1482888756 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:144095286 (GRCh38)
7:143792379 (GRCh37)
Canonical SPDI:: NC_000007.14:144095285:T:A
Gene:: OR2A12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000007.14:g.144095286T>A, NC_000007.13:g.143792379T>A, NW_018654715.1:g.49852T>A, NM_001004135.2:c.179T>A, NM_001004135.1:c.179T>A, NP_001004135.1:p.Val60Asp

Select item 148284765310.

rs1482847653 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:144094040 (GRCh38)
7:143791133 (GRCh37)
Canonical SPDI:: NC_000007.14:144094039:G:A
Gene:: OR2A12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.144094040G>A, NC_000007.13:g.143791133G>A, NW_018654715.1:g.48606G>A

Select item 148263683811.

rs1482636838 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:144095980 (GRCh38)
7:143793073 (GRCh37)
Canonical SPDI:: NC_000007.14:144095979:T:A
Gene:: OR2A12 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.144095980T>A, NC_000007.13:g.143793073T>A, NW_018654715.1:g.50546T>A, NM_001004135.2:c.873T>A, NM_001004135.1:c.873T>A

Select item 148146275512.

rs1481462755 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:144094094 (GRCh38)
7:143791187 (GRCh37)
Canonical SPDI:: NC_000007.14:144094093:C:A
Gene:: OR2A12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000026/7 (TOPMED)
A=0.004717/1 (Vietnamese)
HGVS:: NC_000007.14:g.144094094C>A, NC_000007.13:g.143791187C>A, NW_018654715.1:g.48660C>A

Select item 147963296113.

rs1479632961 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 7:144095246 (GRCh38)
7:143792339 (GRCh37)
Canonical SPDI:: NC_000007.14:144095245:C:G,NC_000007.14:144095245:C:T
Gene:: OR2A12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.00004/1 (TOMMO)
T=0.00055/1 (Korea1K)
HGVS:: NC_000007.14:g.144095246C>G, NC_000007.14:g.144095246C>T, NC_000007.13:g.143792339C>G, NC_000007.13:g.143792339C>T, NW_018654715.1:g.49812C>G, NW_018654715.1:g.49812C>T, NM_001004135.2:c.139C>G, NM_001004135.2:c.139C>T, NM_001004135.1:c.139C>G, NM_001004135.1:c.139C>T, NP_001004135.1:p.Leu47Val, NP_001004135.1:p.Leu47Phe

Select item 147953209814.

rs1479532098 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:144096393 (GRCh38)
7:143793486 (GRCh37)
Canonical SPDI:: NC_000007.14:144096392:G:T
Gene:: OR2A12 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.144096393G>T, NC_000007.13:g.143793486G>T, NW_018654715.1:g.50959G>T, NM_001004135.2:c.*353G>T

Select item 147937803415.

rs1479378034 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 7:144095782 (GRCh38)
7:143792875 (GRCh37)
Canonical SPDI:: NC_000007.14:144095781:G:A,NC_000007.14:144095781:G:T
Gene:: OR2A12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000007.14:g.144095782G>A, NC_000007.14:g.144095782G>T, NC_000007.13:g.143792875G>A, NC_000007.13:g.143792875G>T, NW_018654715.1:g.50348G>A, NW_018654715.1:g.50348G>T, NM_001004135.2:c.675G>A, NM_001004135.2:c.675G>T, NM_001004135.1:c.675G>A, NM_001004135.1:c.675G>T, NP_001004135.1:p.Leu225Phe

Select item 147917510116.

rs1479175101 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:144096079 (GRCh38)
7:143793172 (GRCh37)
Canonical SPDI:: NC_000007.14:144096078:C:T
Gene:: OR2A12 (Varview)
Functional Consequence:: 3_prime_UTR_variant
HGVS:: NC_000007.14:g.144096079C>T, NC_000007.13:g.143793172C>T, NW_018654715.1:g.50645C>T, NM_001004135.2:c.*39C>T

Select item 147645757817.

rs1476457578 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 7:144095666 (GRCh38)
7:143792759 (GRCh37)
Canonical SPDI:: NC_000007.14:144095665:G:C,NC_000007.14:144095665:G:T
Gene:: OR2A12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.144095666G>C, NC_000007.14:g.144095666G>T, NC_000007.13:g.143792759G>C, NC_000007.13:g.143792759G>T, NW_018654715.1:g.50232G>C, NW_018654715.1:g.50232G>T, NM_001004135.2:c.559G>C, NM_001004135.2:c.559G>T, NM_001004135.1:c.559G>C, NM_001004135.1:c.559G>T, NP_001004135.1:p.Ala187Pro, NP_001004135.1:p.Ala187Ser

Select item 147606161118.

rs1476061611 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCTTT [Show Flanks]
Chromosome:: 7:144096100 (GRCh38)
7:143793194 (GRCh37)
Canonical SPDI:: NC_000007.14:144096100:TTTCCTTT:TTTCCTTTCCTTT
Gene:: OR2A12 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTCCTTTCCTTT=0./0 (ALFA)
TTTCC=0.000011/3 (TOPMED)
TTTCC=0.000021/3 (GnomAD)
HGVS:: NC_000007.14:g.144096104_144096108dup, NC_000007.13:g.143793197_143793201dup, NW_018654715.1:g.50670_50674dup, NM_001004135.2:c.*64_*68dup

Select item 147543978119.

rs1475439781 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 7:144095228 (GRCh38)
7:143792321 (GRCh37)
Canonical SPDI:: NC_000007.14:144095227:A:C,NC_000007.14:144095227:A:G
Gene:: OR2A12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.144095228A>C, NC_000007.14:g.144095228A>G, NC_000007.13:g.143792321A>C, NC_000007.13:g.143792321A>G, NW_018654715.1:g.49794A>C, NW_018654715.1:g.49794A>G, NM_001004135.2:c.121A>C, NM_001004135.2:c.121A>G, NM_001004135.1:c.121A>C, NM_001004135.1:c.121A>G, NP_001004135.1:p.Asn41His, NP_001004135.1:p.Asn41Asp

Select item 147342397520.

rs1473423975 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 7:144094619 (GRCh38)
7:143791712 (GRCh37)
Canonical SPDI:: NC_000007.14:144094618:C:G,NC_000007.14:144094618:C:T
Gene:: OR2A12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.144094619C>G, NC_000007.14:g.144094619C>T, NC_000007.13:g.143791712C>G, NC_000007.13:g.143791712C>T, NW_018654715.1:g.49185C>G, NW_018654715.1:g.49185C>T

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