SNP Links for Gene (Select 284383) - SNP

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Select item 14910519291.

rs1491051929 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCT>-,CT [Show Flanks]
Chromosome:: 19:8732344 (GRCh38)
19:8842705 (GRCh37)
Canonical SPDI:: NC_000019.10:8732338:TCTCTCTCT:TCTCT,NC_000019.10:8732338:TCTCTCTCT:TCTCTCT
Gene:: OR2Z1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCTCT=0.000143/2 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000937/6 (1000Genomes)
HGVS:: NC_000019.10:g.8732340CT[2], NC_000019.10:g.8732340CT[3], NW_003871094.1:g.162310CT[2], NW_003871094.1:g.162310CT[3], NG_053125.1:g.6387CT[2], NG_053125.1:g.6387CT[3], NC_000019.9:g.8842701CT[2], NC_000019.9:g.8842701CT[3]

Select item 14908135812.

rs1490813581 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:8729522 (GRCh38)
19:8839884 (GRCh37)
Canonical SPDI:: NC_000019.10:8729521:T:G
Gene:: OR2Z1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.8729522T>G, NW_003871094.1:g.159492T>G, NG_053125.1:g.3569T>G, NC_000019.9:g.8839884T>G

Select item 14885651403.

rs1488565140 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:8730307 (GRCh38)
19:8840669 (GRCh37)
Canonical SPDI:: NC_000019.10:8730306:T:G
Gene:: OR2Z1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.8730307T>G, NW_003871094.1:g.160277T>G, NG_053125.1:g.4354T>G, NC_000019.9:g.8840669T>G

Select item 14883713654.

rs1488371365 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 19:8729437 (GRCh38)
19:8839799 (GRCh37)
Canonical SPDI:: NC_000019.10:8729436:G:C,NC_000019.10:8729436:G:T
Gene:: OR2Z1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000022/3 (GnomAD)
HGVS:: NC_000019.10:g.8729437G>C, NC_000019.10:g.8729437G>T, NW_003871094.1:g.159407G>C, NW_003871094.1:g.159407G>T, NG_053125.1:g.3484G>C, NG_053125.1:g.3484G>T, NC_000019.9:g.8839799G>C, NC_000019.9:g.8839799G>T

Select item 14880451105.

rs1488045110 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:8729029 (GRCh38)
19:8839391 (GRCh37)
Canonical SPDI:: NC_000019.10:8729028:T:C
Gene:: OR2Z1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000019.10:g.8729029T>C, NW_003871094.1:g.158999T>C, NG_010009.3:g.295A>G, NG_053125.1:g.3076T>C, NC_000019.9:g.8839391T>C

Select item 14868236586.

rs1486823658 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:8732334 (GRCh38)
19:8842695 (GRCh37)
Canonical SPDI:: NC_000019.10:8732333:T:A
Gene:: OR2Z1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000169/2 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.8732334T>A, NW_003871094.1:g.162304T>A, NG_053125.1:g.6381T>A, NC_000019.9:g.8842695T>A

Select item 14853375897.

rs1485337589 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 19:8731531 (GRCh38)
19:8841893 (GRCh37)
Canonical SPDI:: NC_000019.10:8731530:A:C,NC_000019.10:8731530:A:G,NC_000019.10:8731530:A:T
Gene:: OR2Z1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
G=0.000142/2 (TOMMO)
A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000019.10:g.8731531A>C, NC_000019.10:g.8731531A>G, NC_000019.10:g.8731531A>T, NW_003871094.1:g.161501A>C, NW_003871094.1:g.161501A>G, NW_003871094.1:g.161501A>T, NG_053125.1:g.5578A>C, NG_053125.1:g.5578A>G, NG_053125.1:g.5578A>T, NM_001004699.2:c.503A>C, NM_001004699.2:c.503A>G, NM_001004699.2:c.503A>T, NM_001004699.3:c.503A>C, NM_001004699.3:c.503A>G, NM_001004699.3:c.503A>T, NM_001004699.1:c.503A>C, NM_001004699.1:c.503A>G, NM_001004699.1:c.503A>T, NC_000019.9:g.8841893A>C, NC_000019.9:g.8841893A>G, NC_000019.9:g.8841893A>T, NP_001004699.1:p.Tyr168Ser, NP_001004699.1:p.Tyr168Cys, NP_001004699.1:p.Tyr168Phe

Select item 14853175888.

rs1485317588 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:8730929 (GRCh38)
19:8841291 (GRCh37)
Canonical SPDI:: NC_000019.10:8730928:T:G
Gene:: OR2Z1 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.8730929T>G, NW_003871094.1:g.160899T>G, NG_053125.1:g.4976T>G, NC_000019.9:g.8841291T>G, NM_001004699.3:c.-100T>G

Select item 14849876009.

rs1484987600 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:8730565 (GRCh38)
19:8840927 (GRCh37)
Canonical SPDI:: NC_000019.10:8730564:G:A
Gene:: OR2Z1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.8730565G>A, NW_003871094.1:g.160535G>A, NG_053125.1:g.4612G>A, NC_000019.9:g.8840927G>A

Select item 148495883910.

rs1484958839 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:8730650 (GRCh38)
19:8841012 (GRCh37)
Canonical SPDI:: NC_000019.10:8730649:C:A
Gene:: OR2Z1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.8730650C>A, NW_003871094.1:g.160620C>A, NG_053125.1:g.4697C>A, NC_000019.9:g.8841012C>A

Select item 148234871811.

rs1482348718 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:8729749 (GRCh38)
19:8840111 (GRCh37)
Canonical SPDI:: NC_000019.10:8729748:C:T
Gene:: OR2Z1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.8729749C>T, NW_003871094.1:g.159719C>T, NG_053125.1:g.3796C>T, NC_000019.9:g.8840111C>T

Select item 148157529912.

rs1481575299 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:8731615 (GRCh38)
19:8841977 (GRCh37)
Canonical SPDI:: NC_000019.10:8731614:A:G
Gene:: OR2Z1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.8731615A>G, NW_003871094.1:g.161585A>G, NG_053125.1:g.5662A>G, NM_001004699.2:c.587A>G, NM_001004699.3:c.587A>G, NM_001004699.1:c.587A>G, NC_000019.9:g.8841977A>G, NP_001004699.1:p.Glu196Gly

Select item 148116833613.

rs1481168336 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 19:8729594 (GRCh38)
19:8839956 (GRCh37)
Canonical SPDI:: NC_000019.10:8729593:T:C,NC_000019.10:8729593:T:G
Gene:: OR2Z1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.8729594T>C, NC_000019.10:g.8729594T>G, NW_003871094.1:g.159564T>C, NW_003871094.1:g.159564T>G, NG_053125.1:g.3641T>C, NG_053125.1:g.3641T>G, NC_000019.9:g.8839956T>C, NC_000019.9:g.8839956T>G

Select item 147964395814.

rs1479643958 has merged into rs782262187 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAGCATGCGCT>- [Show Flanks]
Chromosome:: 19:8731706 (GRCh38)
19:8842068 (GRCh37)
Canonical SPDI:: NC_000019.10:8731703:CTAAGCATGCGCT:CT
Gene:: OR2Z1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CT=0./0 (ALFA)
-=0./0 (TWINSUK)
-=0.000012/3 (GnomAD_exomes)
-=0.000015/4 (TOPMED)
-=0.000021/3 (GnomAD)
-=0.000259/1 (ALSPAC)
HGVS:: NC_000019.10:g.8731706_8731716del, NW_003871094.1:g.161676_161686del, NG_053125.1:g.5753_5763del, NM_001004699.2:c.678_688del, NM_001004699.3:c.678_688del, NM_001004699.1:c.678_688del, NC_000019.9:g.8842068_8842078del, NP_001004699.1:p.Ser227fs

Select item 147898315915.

rs1478983159 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:8730393 (GRCh38)
19:8840755 (GRCh37)
Canonical SPDI:: NC_000019.10:8730392:A:G
Gene:: OR2Z1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.8730393A>G, NW_003871094.1:g.160363A>G, NG_053125.1:g.4440A>G, NC_000019.9:g.8840755A>G

Select item 147794505116.

rs1477945051 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:8729517 (GRCh38)
19:8839879 (GRCh37)
Canonical SPDI:: NC_000019.10:8729516:C:T
Gene:: OR2Z1 (Varview)
Functional Consequence:: intron_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_000019.10:g.8729517C>T, NW_003871094.1:g.159487C>T, NG_053125.1:g.3564C>T, NC_000019.9:g.8839879C>T

Select item 147790197717.

rs1477901977 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:8730378 (GRCh38)
19:8840740 (GRCh37)
Canonical SPDI:: NC_000019.10:8730377:G:T
Gene:: OR2Z1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.8730378G>T, NW_003871094.1:g.160348G>T, NG_053125.1:g.4425G>T, NC_000019.9:g.8840740G>T

Select item 147770753818.

rs1477707538 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:8732216 (GRCh38)
19:8842578 (GRCh37)
Canonical SPDI:: NC_000019.10:8732215:G:A
Gene:: OR2Z1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.8732216G>A, NW_003871094.1:g.162186G>A, NG_053125.1:g.6263G>A, NC_000019.9:g.8842578G>A

Select item 147762748919.

rs1477627489 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:8729126 (GRCh38)
19:8839488 (GRCh37)
Canonical SPDI:: NC_000019.10:8729125:C:T
Gene:: OR2Z1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.8729126C>T, NW_003871094.1:g.159096C>T, NG_010009.3:g.198G>A, NG_053125.1:g.3173C>T, NC_000019.9:g.8839488C>T

Select item 147572093720.

rs1475720937 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:8731149 (GRCh38)
19:8841511 (GRCh37)
Canonical SPDI:: NC_000019.10:8731148:G:A
Gene:: OR2Z1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000038/10 (TOPMED)
A=0.00005/7 (GnomAD)
HGVS:: NC_000019.10:g.8731149G>A, NW_003871094.1:g.161119G>A, NG_053125.1:g.5196G>A, NM_001004699.2:c.121G>A, NM_001004699.3:c.121G>A, NM_001004699.1:c.121G>A, NC_000019.9:g.8841511G>A, NP_001004699.1:p.Gly41Ser

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