SNP Links for Gene (Select 26246) - SNP

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Select item 14905784221.

rs1490578422 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:248039606 (GRCh38)
1:248202908 (GRCh37)
Canonical SPDI:: NC_000001.11:248039605:A:G
Gene:: OR2L2 (Varview), OR2L13 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.248039606A>G, NC_000001.10:g.248202908A>G, NM_001004686.3:c.*400A>G, NM_001385855.1:c.*400A>G

Select item 14905539662.

rs1490553966 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:248038720 (GRCh38)
1:248202022 (GRCh37)
Canonical SPDI:: NC_000001.11:248038719:C:G
Gene:: OR2L2 (Varview), OR2L13 (Varview)
Functional Consequence:: intron_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.248038720C>G, NC_000001.10:g.248202022C>G, NM_001004686.3:c.453C>G, NM_001004686.2:c.453C>G, NM_001385855.1:c.453C>G, NP_001004686.1:p.Ser151Arg, NP_001372784.1:p.Ser151Arg

Select item 14902479703.

rs1490247970 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 1:248038791 (GRCh38)
1:248202094 (GRCh37)
Canonical SPDI:: NC_000001.11:248038791:TTTTTT:TTTTTTT
Gene:: OR2L2 (Varview), OR2L13 (Varview)
Functional Consequence:: frameshift_variant,intron_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000106/2 (TOMMO)
HGVS:: NC_000001.11:g.248038797dup, NC_000001.10:g.248202099dup, NM_001004686.3:c.530dup, NM_001004686.2:c.530dup, NM_001385855.1:c.530dup, NP_001004686.1:p.Cys178fs, NP_001372784.1:p.Cys178fs

Select item 14897040324.

rs1489704032 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:248038351 (GRCh38)
1:248201653 (GRCh37)
Canonical SPDI:: NC_000001.11:248038350:C:G,NC_000001.11:248038350:C:T
Gene:: OR2L2 (Varview), OR2L13 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.248038351C>G, NC_000001.11:g.248038351C>T, NC_000001.10:g.248201653C>G, NC_000001.10:g.248201653C>T, NM_001004686.3:c.84C>G, NM_001004686.3:c.84C>T, NM_001004686.2:c.84C>G, NM_001004686.2:c.84C>T, NM_001385855.1:c.84C>G, NM_001385855.1:c.84C>T

Select item 14891380925.

rs1489138092 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:248037992 (GRCh38)
1:248201294 (GRCh37)
Canonical SPDI:: NC_000001.11:248037991:T:C
Gene:: OR2L2 (Varview), OR2L13 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.248037992T>C, NC_000001.10:g.248201294T>C

Select item 14891105706.

rs1489110570 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 1:248036557 (GRCh38)
1:248199859 (GRCh37)
Canonical SPDI:: NC_000001.11:248036556:TTT:TT
Gene:: OR2L2 (Varview), OR2L13 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0.0002/1 (ALFA)
-=0.0002/1 (Estonian)
HGVS:: NC_000001.11:g.248036559del, NC_000001.10:g.248199861del

Select item 14889316597.

rs1488931659 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:248033859 (GRCh38)
1:248197161 (GRCh37)
Canonical SPDI:: NC_000001.11:248033858:T:C
Gene:: OR2L2 (Varview), OR2L13 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.248033859T>C, NC_000001.10:g.248197161T>C

Select item 14887818678.

rs1488781867 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:248037764 (GRCh38)
1:248201066 (GRCh37)
Canonical SPDI:: NC_000001.11:248037763:C:T
Gene:: OR2L2 (Varview), OR2L13 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.248037764C>T, NC_000001.10:g.248201066C>T

Select item 14877398579.

rs1487739857 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 1:248039393 (GRCh38)
1:248202695 (GRCh37)
Canonical SPDI:: NC_000001.11:248039392:G:C,NC_000001.11:248039392:G:T
Gene:: OR2L2 (Varview), OR2L13 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
C=0.000342/1 (KOREAN)
C=0.000546/1 (Korea1K)
C=0.001946/33 (TOMMO)
HGVS:: NC_000001.11:g.248039393G>C, NC_000001.11:g.248039393G>T, NC_000001.10:g.248202695G>C, NC_000001.10:g.248202695G>T, NM_001004686.3:c.*187G>C, NM_001004686.3:c.*187G>T, NM_001385855.1:c.*187G>C, NM_001385855.1:c.*187G>T

Select item 148669305810.

rs1486693058 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:248035926 (GRCh38)
1:248199228 (GRCh37)
Canonical SPDI:: NC_000001.11:248035925:C:G
Gene:: OR2L2 (Varview), OR2L13 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.248035926C>G, NC_000001.10:g.248199228C>G

Select item 148646995811.

rs1486469958 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:248035224 (GRCh38)
1:248198526 (GRCh37)
Canonical SPDI:: NC_000001.11:248035223:G:A,NC_000001.11:248035223:G:C
Gene:: OR2L2 (Varview), OR2L13 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.248035224G>A, NC_000001.11:g.248035224G>C, NC_000001.10:g.248198526G>A, NC_000001.10:g.248198526G>C

Select item 148622751312.

rs1486227513 has merged into rs74814875 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:248035062 (GRCh38)
1:248198364 (GRCh37)
Canonical SPDI:: NC_000001.11:248035050:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:248035050:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:248035050:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:248035050:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:248035050:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:248035050:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:248035050:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:248035050:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:248035050:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:248035050:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:248035050:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:248035050:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:248035050:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:248035050:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: OR2L2 (Varview), OR2L13 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.125/5 (GENOME_DK)
HGVS:: NC_000001.11:g.248035062_248035065del, NC_000001.11:g.248035063_248035065del, NC_000001.11:g.248035064_248035065del, NC_000001.11:g.248035065del, NC_000001.11:g.248035065dup, NC_000001.11:g.248035064_248035065dup, NC_000001.11:g.248035063_248035065dup, NC_000001.11:g.248035062_248035065dup, NC_000001.11:g.248035061_248035065dup, NC_000001.11:g.248035060_248035065dup, NC_000001.11:g.248035056_248035065dup, NC_000001.11:g.248035055_248035065dup, NC_000001.11:g.248035054_248035065dup, NC_000001.11:g.248035052_248035065dup, NC_000001.10:g.248198364_248198367del, NC_000001.10:g.248198365_248198367del, NC_000001.10:g.248198366_248198367del, NC_000001.10:g.248198367del, NC_000001.10:g.248198367dup, NC_000001.10:g.248198366_248198367dup, NC_000001.10:g.248198365_248198367dup, NC_000001.10:g.248198364_248198367dup, NC_000001.10:g.248198363_248198367dup, NC_000001.10:g.248198362_248198367dup, NC_000001.10:g.248198358_248198367dup, NC_000001.10:g.248198357_248198367dup, NC_000001.10:g.248198356_248198367dup, NC_000001.10:g.248198354_248198367dup

Select item 148598661013.

rs1485986610 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:248035316 (GRCh38)
1:248198618 (GRCh37)
Canonical SPDI:: NC_000001.11:248035315:G:T
Gene:: OR2L2 (Varview), OR2L13 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.248035316G>T, NC_000001.10:g.248198618G>T

Select item 148564093414.

rs1485640934 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:248035146 (GRCh38)
1:248198448 (GRCh37)
Canonical SPDI:: NC_000001.11:248035145:T:A
Gene:: OR2L2 (Varview), OR2L13 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_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_000001.11:g.248035146T>A, NC_000001.10:g.248198448T>A

Select item 148558879615.

rs1485588796 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 1:248034002 (GRCh38)
1:248197304 (GRCh37)
Canonical SPDI:: NC_000001.11:248034001:TT:
Gene:: OR2L2 (Varview), OR2L13 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.248034002_248034003del, NC_000001.10:g.248197304_248197305del

Select item 148533404516.

rs1485334045 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:248034425 (GRCh38)
1:248197727 (GRCh37)
Canonical SPDI:: NC_000001.11:248034424:A:C
Gene:: OR2L2 (Varview), OR2L13 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.248034425A>C, NC_000001.10:g.248197727A>C

Select item 148513425817.

rs1485134258 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:248038877 (GRCh38)
1:248202179 (GRCh37)
Canonical SPDI:: NC_000001.11:248038876:A:G
Gene:: OR2L2 (Varview), OR2L13 (Varview)
Functional Consequence:: intron_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.248038877A>G, NC_000001.10:g.248202179A>G, NM_001004686.3:c.610A>G, NM_001004686.2:c.610A>G, NM_001385855.1:c.610A>G, NP_001004686.1:p.Ile204Val, NP_001372784.1:p.Ile204Val

Select item 148447954918.

rs1484479549 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 1:248039335 (GRCh38)
1:248202637 (GRCh37)
Canonical SPDI:: NC_000001.11:248039334:AA:
Gene:: OR2L2 (Varview), OR2L13 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.00078/13 (TOMMO)
HGVS:: NC_000001.11:g.248039335_248039336del, NC_000001.10:g.248202637_248202638del, NM_001004686.3:c.*129_*130del, NM_001385855.1:c.*129_*130del

Select item 148411516519.

rs1484115165 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:248038719 (GRCh38)
1:248202021 (GRCh37)
Canonical SPDI:: NC_000001.11:248038718:G:A,NC_000001.11:248038718:G:T
Gene:: OR2L2 (Varview), OR2L13 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000056/2 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000029/4 (GnomAD)
HGVS:: NC_000001.11:g.248038719G>A, NC_000001.11:g.248038719G>T, NC_000001.10:g.248202021G>A, NC_000001.10:g.248202021G>T, NM_001004686.3:c.452G>A, NM_001004686.3:c.452G>T, NM_001004686.2:c.452G>A, NM_001004686.2:c.452G>T, NM_001385855.1:c.452G>A, NM_001385855.1:c.452G>T, NP_001004686.1:p.Ser151Asn, NP_001004686.1:p.Ser151Ile, NP_001372784.1:p.Ser151Asn, NP_001372784.1:p.Ser151Ile

Select item 148373452620.

rs1483734526 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:248037421 (GRCh38)
1:248200723 (GRCh37)
Canonical SPDI:: NC_000001.11:248037420:C:T
Gene:: OR2L2 (Varview), OR2L13 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.248037421C>T, NC_000001.10:g.248200723C>T

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