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Select item 14913823711.

rs1491382371 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 5:181126420 (GRCh38)
5:180553420 (GRCh37)
Canonical SPDI:: NC_000005.10:181126419:CC:
Gene:: OR2V1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.00004/1 (TOMMO)
HGVS:: NC_000005.10:g.181126420_181126421del, NC_000005.9:g.180553420_180553421del

Select item 14911546972.

rs1491154697 has merged into rs10532191 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACACACACACACACACACA>-,CACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACA [Show Flanks]
Chromosome:: 5:181126433 (GRCh38)
5:180553433 (GRCh37)
Canonical SPDI:: NC_000005.10:181126420:CACACACACACACACACACACACACACACACACACACA:CACACACACACA,NC_000005.10:181126420:CACACACACACACACACACACACACACACACACACACA:CACACACACACACACA,NC_000005.10:181126420:CACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACA,NC_000005.10:181126420:CACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACA,NC_000005.10:181126420:CACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACA,NC_000005.10:181126420:CACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACA,NC_000005.10:181126420:CACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACA,NC_000005.10:181126420:CACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACA,NC_000005.10:181126420:CACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACA,NC_000005.10:181126420:CACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACA,NC_000005.10:181126420:CACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACA,NC_000005.10:181126420:CACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACA,NC_000005.10:181126420:CACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACA,NC_000005.10:181126420:CACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACA,NC_000005.10:181126420:CACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACA,NC_000005.10:181126420:CACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACA,NC_000005.10:181126420:CACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000005.10:181126420:CACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000005.10:181126420:CACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACA
Gene:: OR2V1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACA=0./0 (ALFA)
CA=0.1502/752 (1000Genomes)
HGVS:: NC_000005.10:g.181126421CA[6], NC_000005.10:g.181126421CA[8], NC_000005.10:g.181126421CA[10], NC_000005.10:g.181126421CA[11], NC_000005.10:g.181126421CA[12], NC_000005.10:g.181126421CA[13], NC_000005.10:g.181126421CA[14], NC_000005.10:g.181126421CA[15], NC_000005.10:g.181126421CA[16], NC_000005.10:g.181126421CA[17], NC_000005.10:g.181126421CA[18], NC_000005.10:g.181126421CA[20], NC_000005.10:g.181126421CA[21], NC_000005.10:g.181126421CA[22], NC_000005.10:g.181126421CA[23], NC_000005.10:g.181126421CA[24], NC_000005.10:g.181126421CA[25], NC_000005.10:g.181126421CA[26], NC_000005.10:g.181126421CA[27], NC_000005.9:g.180553421CA[6], NC_000005.9:g.180553421CA[8], NC_000005.9:g.180553421CA[10], NC_000005.9:g.180553421CA[11], NC_000005.9:g.180553421CA[12], NC_000005.9:g.180553421CA[13], NC_000005.9:g.180553421CA[14], NC_000005.9:g.180553421CA[15], NC_000005.9:g.180553421CA[16], NC_000005.9:g.180553421CA[17], NC_000005.9:g.180553421CA[18], NC_000005.9:g.180553421CA[20], NC_000005.9:g.180553421CA[21], NC_000005.9:g.180553421CA[22], NC_000005.9:g.180553421CA[23], NC_000005.9:g.180553421CA[24], NC_000005.9:g.180553421CA[25], NC_000005.9:g.180553421CA[26], NC_000005.9:g.180553421CA[27]

Select item 14905185103.

rs1490518510 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:181125248 (GRCh38)
5:180552248 (GRCh37)
Canonical SPDI:: NC_000005.10:181125247:A:G
Gene:: OR2V1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.181125248A>G, NC_000005.9:g.180552248A>G, NM_001258283.2:c.57T>C, NM_001258283.1:c.57T>C

Select item 14905034774.

rs1490503477 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:181124561 (GRCh38)
5:180551561 (GRCh37)
Canonical SPDI:: NC_000005.10:181124560:A:G
Gene:: OR2V1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.181124561A>G, NC_000005.9:g.180551561A>G, NM_001258283.2:c.744T>C, NM_001258283.1:c.744T>C

Select item 14885687455.

rs1488568745 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 5:181126259 (GRCh38)
5:180553259 (GRCh37)
Canonical SPDI:: NC_000005.10:181126258:A:C,NC_000005.10:181126258:A:G
Gene:: OR2V1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
C=0.000312/2 (1000Genomes)
HGVS:: NC_000005.10:g.181126259A>C, NC_000005.10:g.181126259A>G, NC_000005.9:g.180553259A>C, NC_000005.9:g.180553259A>G

Select item 14880715856.

rs1488071585 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:181124555 (GRCh38)
5:180551555 (GRCh37)
Canonical SPDI:: NC_000005.10:181124554:G:C
Gene:: OR2V1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.181124555G>C, NC_000005.9:g.180551555G>C, NM_001258283.2:c.750C>G, NM_001258283.1:c.750C>G

Select item 14866842447.

rs1486684244 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:181127100 (GRCh38)
5:180554100 (GRCh37)
Canonical SPDI:: NC_000005.10:181127099:T:C
Gene:: OR2V1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000029/4 (GnomAD)
C=0.000034/9 (TOPMED)
HGVS:: NC_000005.10:g.181127100T>C, NC_000005.9:g.180554100T>C

Select item 14865802268.

rs1486580226 [Homo sapiens]

Variant type:: DELINS
Alleles:: GACACA>- [Show Flanks]
Chromosome:: 5:181126461 (GRCh38)
5:180553461 (GRCh37)
Canonical SPDI:: NC_000005.10:181126459:AGACACA:A
Gene:: OR2V1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000005.10:g.181126461_181126466del, NC_000005.9:g.180553461_180553466del

Select item 14862517309.

rs1486251730 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:181126743 (GRCh38)
5:180553743 (GRCh37)
Canonical SPDI:: NC_000005.10:181126742:C:T
Gene:: OR2V1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.181126743C>T, NC_000005.9:g.180553743C>T

Select item 148544159910.

rs1485441599 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:181124061 (GRCh38)
5:180551061 (GRCh37)
Canonical SPDI:: NC_000005.10:181124060:G:T
Gene:: OR2V1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.181124061G>T, NC_000005.9:g.180551061G>T, NM_001258283.2:c.*296C>A

Select item 148501577011.

rs1485015770 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:181126983 (GRCh38)
5:180553983 (GRCh37)
Canonical SPDI:: NC_000005.10:181126982:C:T
Gene:: OR2V1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.181126983C>T, NC_000005.9:g.180553983C>T

Select item 148480379012.

rs1484803790 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:181125165 (GRCh38)
5:180552165 (GRCh37)
Canonical SPDI:: NC_000005.10:181125164:A:T
Gene:: OR2V1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.181125165A>T, NC_000005.9:g.180552165A>T, NM_001258283.2:c.140T>A, NM_001258283.1:c.140T>A, NP_001245212.1:p.Ile47Asn

Select item 148377853213.

rs1483778532 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:181126042 (GRCh38)
5:180553042 (GRCh37)
Canonical SPDI:: NC_000005.10:181126041:T:G
Gene:: OR2V1 (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_000005.10:g.181126042T>G, NC_000005.9:g.180553042T>G

Select item 148366527714.

rs1483665277 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:181126724 (GRCh38)
5:180553724 (GRCh37)
Canonical SPDI:: NC_000005.10:181126723:A:G
Gene:: OR2V1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.181126724A>G, NC_000005.9:g.180553724A>G

Select item 148330337715.

rs1483303377 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 5:181125724 (GRCh38)
5:180552724 (GRCh37)
Canonical SPDI:: NC_000005.10:181125723:G:A,NC_000005.10:181125723:G:T
Gene:: OR2V1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.181125724G>A, NC_000005.10:g.181125724G>T, NC_000005.9:g.180552724G>A, NC_000005.9:g.180552724G>T

Select item 148312871616.

rs1483128716 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 5:181125087 (GRCh38)
5:180552087 (GRCh37)
Canonical SPDI:: NC_000005.10:181125086:A:
Gene:: OR2V1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.181125087del, NC_000005.9:g.180552087del, NM_001258283.2:c.218del, NM_001258283.1:c.218del, NP_001245212.1:p.Met73fs

Select item 148136238517.

rs1481362385 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:181126835 (GRCh38)
5:180553835 (GRCh37)
Canonical SPDI:: NC_000005.10:181126834:C:T
Gene:: OR2V1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000005.10:g.181126835C>T, NC_000005.9:g.180553835C>T

Select item 148092928018.

rs1480929280 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:181126511 (GRCh38)
5:180553511 (GRCh37)
Canonical SPDI:: NC_000005.10:181126510:T:C
Gene:: OR2V1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000084/1 (ALFA)
C=0.000008/1 (GnomAD)
HGVS:: NC_000005.10:g.181126511T>C, NC_000005.9:g.180553511T>C

Select item 147926645419.

rs1479266454 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:181125448 (GRCh38)
5:180552448 (GRCh37)
Canonical SPDI:: NC_000005.10:181125447:G:C
Gene:: OR2V1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.181125448G>C, NC_000005.9:g.180552448G>C

Select item 147921322120.

rs1479213221 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:181124317 (GRCh38)
5:180551317 (GRCh37)
Canonical SPDI:: NC_000005.10:181124316:A:C
Gene:: OR2V1 (Varview)
Functional Consequence:: 3_prime_UTR_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_000005.10:g.181124317A>C, NC_000005.9:g.180551317A>C, NM_001258283.2:c.*40T>G

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