SNP Links for Gene (Select 81472) - SNP

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Select item 14913569621.

rs1491356962 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 1:247534706 (GRCh38)
1:247698008 (GRCh37)
Canonical SPDI:: NC_000001.11:247534704:TAT:T
Gene:: OR2C3 (Varview), GCSAML (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.247534706_247534707del, NC_000001.10:g.247698008_247698009del

Select item 14912631892.

rs1491263189 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT [Show Flanks]
Chromosome:: 1:247530039 (GRCh38)
1:247693342 (GRCh37)
Canonical SPDI:: NC_000001.11:247530039:T:TAT
Gene:: OR2C3 (Varview), GCSAML (Varview), GCSAML-AS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAT=0./0 (ALFA)
TA=0.000021/2 (GnomAD)
TA=0.00003/8 (TOPMED)
HGVS:: NC_000001.11:g.247530040_247530041insAT, NC_000001.10:g.247693342_247693343insAT, NM_198074.6:c.*1509_*1510insTA

Select item 14902288223.

rs1490228822 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:247534318 (GRCh38)
1:247697620 (GRCh37)
Canonical SPDI:: NC_000001.11:247534317:T:G
Gene:: OR2C3 (Varview), GCSAML (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.247534318T>G, NC_000001.10:g.247697620T>G

Select item 14901370374.

rs1490137037 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 1:247533765 (GRCh38)
1:247697067 (GRCh37)
Canonical SPDI:: NC_000001.11:247533763:TGT:T
Gene:: OR2C3 (Varview), GCSAML (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000223/1 (Estonian)
HGVS:: NC_000001.11:g.247533765_247533766del, NC_000001.10:g.247697067_247697068del, NM_198074.6:c.-288_-287del, NM_198074.5:c.-288_-287del, NM_198074.4:c.-288_-287del

Select item 14895009265.

rs1489500926 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:247534746 (GRCh38)
1:247698048 (GRCh37)
Canonical SPDI:: NC_000001.11:247534745:C:A,NC_000001.11:247534745:C:T
Gene:: OR2C3 (Varview), GCSAML (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.247534746C>A, NC_000001.11:g.247534746C>T, NC_000001.10:g.247698048C>A, NC_000001.10:g.247698048C>T

Select item 14888930716.

rs1488893071 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:247530046 (GRCh38)
1:247693348 (GRCh37)
Canonical SPDI:: NC_000001.11:247530045:T:C
Gene:: OR2C3 (Varview), GCSAML (Varview), GCSAML-AS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.247530046T>C, NC_000001.10:g.247693348T>C, NM_198074.6:c.*1503A>G

Select item 14886329857.

rs1488632985 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:247530796 (GRCh38)
1:247694098 (GRCh37)
Canonical SPDI:: NC_000001.11:247530795:C:T
Gene:: OR2C3 (Varview), GCSAML (Varview), GCSAML-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000022/3 (GnomAD)
HGVS:: NC_000001.11:g.247530796C>T, NC_000001.10:g.247694098C>T, NM_198074.6:c.*753G>A, NM_198074.5:c.*753G>A, NM_198074.4:c.*753G>A, NR_027309.2:n.9G>A

Select item 14885840898.

rs1488584089 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:247531202 (GRCh38)
1:247694504 (GRCh37)
Canonical SPDI:: NC_000001.11:247531201:C:T
Gene:: OR2C3 (Varview), GCSAML (Varview), GCSAML-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_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.247531202C>T, NC_000001.10:g.247694504C>T, NM_198074.6:c.*347G>A, NM_198074.5:c.*347G>A, NM_198074.4:c.*347G>A

Select item 14885679779.

rs1488567977 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:247532092 (GRCh38)
1:247695394 (GRCh37)
Canonical SPDI:: NC_000001.11:247532091:C:G
Gene:: OR2C3 (Varview), GCSAML (Varview), GCSAML-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.247532092C>G, NC_000001.10:g.247695394C>G, NM_198074.6:c.420G>C, NM_198074.5:c.420G>C, NM_198074.4:c.420G>C, NP_932340.4:p.Gln140His

Select item 148843889510.

rs1488438895 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:247532332 (GRCh38)
1:247695634 (GRCh37)
Canonical SPDI:: NC_000001.11:247532331:C:T
Gene:: OR2C3 (Varview), GCSAML (Varview), GCSAML-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,missense_variant,genic_upstream_transcript_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_000001.11:g.247532332C>T, NC_000001.10:g.247695634C>T, NM_198074.6:c.180G>A, NM_198074.5:c.180G>A, NM_198074.4:c.180G>A, NP_932340.4:p.Met60Ile

Select item 148791215411.

rs1487912154 has merged into rs57236564 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:247529730 (GRCh38)
1:247693032 (GRCh37)
Canonical SPDI:: NC_000001.11:247529718:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:247529718:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:247529718:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:247529718:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:247529718:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:247529718:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:247529718:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:247529718:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:247529718:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:247529718:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:247529718:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:247529718:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:247529718:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:247529718:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:247529718:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:247529718:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:247529718:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:247529718:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:247529718:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:247529718:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:247529718:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: OR2C3 (Varview), GCSAML (Varview), GCSAML-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000001.11:g.247529730_247529745del, NC_000001.11:g.247529731_247529745del, NC_000001.11:g.247529732_247529745del, NC_000001.11:g.247529733_247529745del, NC_000001.11:g.247529734_247529745del, NC_000001.11:g.247529735_247529745del, NC_000001.11:g.247529736_247529745del, NC_000001.11:g.247529737_247529745del, NC_000001.11:g.247529738_247529745del, NC_000001.11:g.247529739_247529745del, NC_000001.11:g.247529740_247529745del, NC_000001.11:g.247529741_247529745del, NC_000001.11:g.247529742_247529745del, NC_000001.11:g.247529743_247529745del, NC_000001.11:g.247529744_247529745del, NC_000001.11:g.247529745del, NC_000001.11:g.247529745dup, NC_000001.11:g.247529744_247529745dup, NC_000001.11:g.247529743_247529745dup, NC_000001.11:g.247529742_247529745dup, NC_000001.11:g.247529741_247529745dup, NC_000001.10:g.247693032_247693047del, NC_000001.10:g.247693033_247693047del, NC_000001.10:g.247693034_247693047del, NC_000001.10:g.247693035_247693047del, NC_000001.10:g.247693036_247693047del, NC_000001.10:g.247693037_247693047del, NC_000001.10:g.247693038_247693047del, NC_000001.10:g.247693039_247693047del, NC_000001.10:g.247693040_247693047del, NC_000001.10:g.247693041_247693047del, NC_000001.10:g.247693042_247693047del, NC_000001.10:g.247693043_247693047del, NC_000001.10:g.247693044_247693047del, NC_000001.10:g.247693045_247693047del, NC_000001.10:g.247693046_247693047del, NC_000001.10:g.247693047del, NC_000001.10:g.247693047dup, NC_000001.10:g.247693046_247693047dup, NC_000001.10:g.247693045_247693047dup, NC_000001.10:g.247693044_247693047dup, NC_000001.10:g.247693043_247693047dup, NM_198074.6:c.*1815_*1830del, NM_198074.6:c.*1816_*1830del, NM_198074.6:c.*1817_*1830del, NM_198074.6:c.*1818_*1830del, NM_198074.6:c.*1819_*1830del, NM_198074.6:c.*1820_*1830del, NM_198074.6:c.*1821_*1830del, NM_198074.6:c.*1822_*1830del, NM_198074.6:c.*1823_*1830del, NM_198074.6:c.*1824_*1830del, NM_198074.6:c.*1825_*1830del, NM_198074.6:c.*1826_*1830del, NM_198074.6:c.*1827_*1830del, NM_198074.6:c.*1828_*1830del, NM_198074.6:c.*1829_*1830del, NM_198074.6:c.*1830del, NM_198074.6:c.*1830dup, NM_198074.6:c.*1829_*1830dup, NM_198074.6:c.*1828_*1830dup, NM_198074.6:c.*1827_*1830dup, NM_198074.6:c.*1826_*1830dup

Select item 148790970012.

rs1487909700 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 1:247529766 (GRCh38)
1:247693068 (GRCh37)
Canonical SPDI:: NC_000001.11:247529765:C:A,NC_000001.11:247529765:C:G
Gene:: OR2C3 (Varview), GCSAML (Varview), GCSAML-AS1 (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=0.000008/1 (GnomAD)
G=0.000008/2 (TOPMED)
A=0.00138/39 (TOMMO)
HGVS:: NC_000001.11:g.247529766C>A, NC_000001.11:g.247529766C>G, NC_000001.10:g.247693068C>A, NC_000001.10:g.247693068C>G, NM_198074.6:c.*1783G>T, NM_198074.6:c.*1783G>C

Select item 148770603713.

rs1487706037 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 1:247535013 (GRCh38)
1:247698315 (GRCh37)
Canonical SPDI:: NC_000001.11:247535012:T:
Gene:: OR2C3 (Varview), GCSAML (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000078/11 (GnomAD)
-=0.000087/23 (TOPMED)
-=0.000212/4 (TOMMO)
-=0.001092/2 (Korea1K)
HGVS:: NC_000001.11:g.247535013del, NC_000001.10:g.247698315del

Select item 148720793714.

rs1487207937 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 1:247535707 (GRCh38)
1:247699009 (GRCh37)
Canonical SPDI:: NC_000001.11:247535706:AAA:AA
Gene:: OR2C3 (Varview), GCSAML (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0.0002/1 (ALFA)
-=0.0002/1 (Estonian)
HGVS:: NC_000001.11:g.247535709del, NC_000001.10:g.247699011del

Select item 148666647515.

rs1486666475 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAA>- [Show Flanks]
Chromosome:: 1:247531462 (GRCh38)
1:247694764 (GRCh37)
Canonical SPDI:: NC_000001.11:247531457:AGAAGAA:AGAA
Gene:: OR2C3 (Varview), GCSAML (Varview), GCSAML-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AGAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.247531459GAA[1], NC_000001.10:g.247694761GAA[1], NM_198074.6:c.*86TCT[1], NM_198074.5:c.*86TCT[1], NM_198074.4:c.*86TCT[1]

Select item 148656824516.

rs1486568245 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:247531108 (GRCh38)
1:247694410 (GRCh37)
Canonical SPDI:: NC_000001.11:247531107:G:A
Gene:: OR2C3 (Varview), GCSAML (Varview), GCSAML-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.247531108G>A, NC_000001.10:g.247694410G>A, NM_198074.6:c.*441C>T, NM_198074.5:c.*441C>T, NM_198074.4:c.*441C>T

Select item 148594131317.

rs1485941313 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:247530530 (GRCh38)
1:247693832 (GRCh37)
Canonical SPDI:: NC_000001.11:247530529:A:C
Gene:: OR2C3 (Varview), GCSAML (Varview), GCSAML-AS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.00001/1 (GnomAD)
C=0.000177/3 (TOMMO)
HGVS:: NC_000001.11:g.247530530A>C, NC_000001.10:g.247693832A>C, NM_198074.6:c.*1019T>G, NM_198074.5:c.*1019T>G, NM_198074.4:c.*1019T>G

Select item 148450633218.

rs1484506332 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:247530727 (GRCh38)
1:247694029 (GRCh37)
Canonical SPDI:: NC_000001.11:247530726:G:A
Gene:: OR2C3 (Varview), GCSAML (Varview), GCSAML-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.247530727G>A, NC_000001.10:g.247694029G>A, NM_198074.6:c.*822C>T, NM_198074.5:c.*822C>T, NM_198074.4:c.*822C>T, NR_027309.2:n.78C>T

Select item 148438082119.

rs1484380821 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:247533436 (GRCh38)
1:247696738 (GRCh37)
Canonical SPDI:: NC_000001.11:247533435:A:G
Gene:: OR2C3 (Varview), GCSAML (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.247533436A>G, NC_000001.10:g.247696738A>G

Select item 148420528720.

rs1484205287 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:247535416 (GRCh38)
1:247698718 (GRCh37)
Canonical SPDI:: NC_000001.11:247535415:T:C
Gene:: OR2C3 (Varview), GCSAML (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.247535416T>C, NC_000001.10:g.247698718T>C

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