SNP Links for Gene (Select 728377) - SNP

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Select item 14915012471.

rs1491501247 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA [Show Flanks]
Chromosome:: 7:144275773 (GRCh38)
7:143972867 (GRCh37)
Canonical SPDI:: NC_000007.14:144275773:CA:CACA
Gene:: ARHGEF34P (Varview), OR2A1-AS1 (Varview), ARHGEF35-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CACA=0./0 (ALFA)
CA=0.00002/1 (GnomAD)
HGVS:: NC_000007.14:g.144275774_144275775dup, NC_000007.13:g.143972867_143972868dup, NW_018654715.1:g.230368_230369dup

Select item 14913129182.

rs1491312918 [Homo sapiens]

Variant type:: SNV:
Alleles:: TC>-
Chromosome:: no mapping
Canonical SPDI:

Select item 14910328353.

rs1491032835 has merged into rs368393048 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 7:144275787 (GRCh38)
7:143972880 (GRCh37)
Canonical SPDI:: NC_000007.14:144275774:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:144275774:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:144275774:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:144275774:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:144275774:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:144275774:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
Gene:: ARHGEF34P (Varview), OR2A1-AS1 (Varview), ARHGEF35-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000007.14:g.144275787_144275789del, NC_000007.14:g.144275788_144275789del, NC_000007.14:g.144275789del, NC_000007.14:g.144275789dup, NC_000007.14:g.144275788_144275789dup, NC_000007.14:g.144275787_144275789dup, NC_000007.13:g.143972880_143972882del, NC_000007.13:g.143972881_143972882del, NC_000007.13:g.143972882del, NC_000007.13:g.143972882dup, NC_000007.13:g.143972881_143972882dup, NC_000007.13:g.143972880_143972882dup, NW_018654715.1:g.230381_230383del, NW_018654715.1:g.230382_230383del, NW_018654715.1:g.230383del, NW_018654715.1:g.230383dup, NW_018654715.1:g.230382_230383dup, NW_018654715.1:g.230381_230383dup

Select item 14908823644.

rs1490882364 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:144271192 (GRCh38)
7:143968285 (GRCh37)
Canonical SPDI:: NC_000007.14:144271191:C:T
Gene:: ARHGEF34P (Varview), CTAGE8 (Varview), OR2A1-AS1 (Varview), ARHGEF35-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00059/7 (ALFA)
T=0.000037/1 (TOMMO)
T=0.000092/10 (GnomAD)
HGVS:: NC_000007.14:g.144271192C>T, NC_000007.13:g.143968285C>T, NW_018654715.1:g.225786C>T

Select item 14908679965.

rs1490867996 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:144274011 (GRCh38)
7:143971104 (GRCh37)
Canonical SPDI:: NC_000007.14:144274010:C:T
Gene:: ARHGEF34P (Varview), OR2A1-AS1 (Varview), ARHGEF35-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00004/1 (TOMMO)
T=0.00031/2 (1000Genomes)
HGVS:: NC_000007.14:g.144274011C>T, NC_000007.13:g.143971104C>T, NW_018654715.1:g.228605C>T, NR_033942.1:n.3445G>A

Select item 14908045136.

rs1490804513 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:144266777 (GRCh38)
7:143963870 (GRCh37)
Canonical SPDI:: NC_000007.14:144266776:C:T
Gene:: OR2A7 (Varview), ARHGEF34P (Varview), CTAGE8 (Varview), OR2A1-AS1 (Varview), ARHGEF35-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.00008/1 (ALFA)
HGVS:: NC_000007.14:g.144266777C>T, NC_000007.13:g.143963870C>T, NW_018654715.1:g.221371C>T, NM_001278507.2:c.*140G>A, NM_001278507.1:c.*140G>A

Select item 14907730437.

rs1490773043 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:144258997 (GRCh38)
7:143956090 (GRCh37)
Canonical SPDI:: NC_000007.14:144258996:G:C
Gene:: OR2A7 (Varview), ARHGEF34P (Varview), OR2A1-AS1 (Varview), ARHGEF35-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.144258997G>C, NC_000007.13:g.143956090G>C, NW_018654715.1:g.213591G>C, NM_001005328.2:c.632C>G, NM_001005328.1:c.632C>G, NR_033942.1:n.4203C>G, NP_001005328.1:p.Ser211Cys

Select item 14906259978.

rs1490625997 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:144267439 (GRCh38)
7:143964532 (GRCh37)
Canonical SPDI:: NC_000007.14:144267438:G:T
Gene:: ARHGEF34P (Varview), CTAGE8 (Varview), OR2A1-AS1 (Varview), ARHGEF35-AS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00012/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.144267439G>T, NC_000007.13:g.143964532G>T, NW_018654715.1:g.222033G>T, NM_001278507.2:c.1812C>A, NM_001278507.1:c.1812C>A, NP_001265436.1:p.Asp604Glu

Select item 14906109759.

rs1490610975 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:144259285 (GRCh38)
7:143956378 (GRCh37)
Canonical SPDI:: NC_000007.14:144259284:A:G
Gene:: OR2A7 (Varview), ARHGEF34P (Varview), OR2A1-AS1 (Varview), ARHGEF35-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000011/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.144259285A>G, NC_000007.13:g.143956378A>G, NW_018654715.1:g.213879A>G, NM_001005328.2:c.344T>C, NM_001005328.1:c.344T>C, NR_033942.1:n.3915T>C, NP_001005328.1:p.Val115Ala

Select item 149021021410.

rs1490210214 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:144286086 (GRCh38)
7:143983179 (GRCh37)
Canonical SPDI:: NC_000007.14:144286085:G:A
Gene:: ARHGEF34P (Varview), OR2A1-AS1 (Varview), ARHGEF35-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000007.14:g.144286086G>A, NC_000007.13:g.143983179G>A, NW_018654715.1:g.240680G>A

Select item 149013348811.

rs1490133488 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:144275988 (GRCh38)
7:143973081 (GRCh37)
Canonical SPDI:: NC_000007.14:144275987:A:G
Gene:: ARHGEF34P (Varview), OR2A1-AS1 (Varview), ARHGEF35-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000007.14:g.144275988A>G, NC_000007.13:g.143973081A>G, NW_018654715.1:g.230582A>G

Select item 149009998912.

rs1490099989 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 7:144259903 (GRCh38)
7:143956996 (GRCh37)
Canonical SPDI:: NC_000007.14:144259902:T:C,NC_000007.14:144259902:T:G
Gene:: OR2A7 (Varview), ARHGEF34P (Varview), OR2A1-AS1 (Varview), ARHGEF35-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (TOPMED)
G=0.000008/1 (GnomAD)
HGVS:: NC_000007.14:g.144259903T>C, NC_000007.14:g.144259903T>G, NC_000007.13:g.143956996T>C, NC_000007.13:g.143956996T>G, NW_018654715.1:g.214497T>C, NW_018654715.1:g.214497T>G

Select item 149008363913.

rs1490083639 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 7:144272200 (GRCh38)
7:143969293 (GRCh37)
Canonical SPDI:: NC_000007.14:144272199:CT:
Gene:: ARHGEF34P (Varview), OR2A1-AS1 (Varview), ARHGEF35-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000007.14:g.144272200_144272201del, NC_000007.13:g.143969293_143969294del, NW_018654715.1:g.226794_226795del

Select item 149004749614.

rs1490047496 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:144275399 (GRCh38)
7:143972492 (GRCh37)
Canonical SPDI:: NC_000007.14:144275398:G:A
Gene:: ARHGEF34P (Varview), OR2A1-AS1 (Varview), ARHGEF35-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/2 (GnomAD)
HGVS:: NC_000007.14:g.144275399G>A, NC_000007.13:g.143972492G>A, NW_018654715.1:g.229993G>A

Select item 148987235615.

rs1489872356 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:144258622 (GRCh38)
7:143955715 (GRCh37)
Canonical SPDI:: NC_000007.14:144258621:T:G
Gene:: OR2A7 (Varview), ARHGEF34P (Varview), OR2A1-AS1 (Varview), ARHGEF35-AS1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.144258622T>G, NC_000007.13:g.143955715T>G, NW_018654715.1:g.213216T>G, NM_001005328.2:c.*74A>C

Select item 148983446516.

rs1489834465 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:144265831 (GRCh38)
7:143962924 (GRCh37)
Canonical SPDI:: NC_000007.14:144265830:T:C
Gene:: OR2A7 (Varview), ARHGEF34P (Varview), OR2A1-AS1 (Varview), ARHGEF35-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000007.14:g.144265831T>C, NC_000007.13:g.143962924T>C, NW_018654715.1:g.220425T>C

Select item 148977147717.

rs1489771477 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 7:144265075 (GRCh38)
7:143962168 (GRCh37)
Canonical SPDI:: NC_000007.14:144265074:A:C,NC_000007.14:144265074:A:T
Gene:: OR2A7 (Varview), ARHGEF34P (Varview), OR2A1-AS1 (Varview), ARHGEF35-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.144265075A>C, NC_000007.14:g.144265075A>T, NC_000007.13:g.143962168A>C, NC_000007.13:g.143962168A>T, NW_018654715.1:g.219669A>C, NW_018654715.1:g.219669A>T

Select item 148974811118.

rs1489748111 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:144276199 (GRCh38)
7:143973292 (GRCh37)
Canonical SPDI:: NC_000007.14:144276198:G:T
Gene:: ARHGEF34P (Varview), OR2A1-AS1 (Varview), ARHGEF35-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000007.14:g.144276199G>T, NC_000007.13:g.143973292G>T, NW_018654715.1:g.230793G>T

Select item 148967619619.

rs1489676196 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:144280748 (GRCh38)
7:143977841 (GRCh37)
Canonical SPDI:: NC_000007.14:144280747:A:G
Gene:: ARHGEF34P (Varview), OR2A1-AS1 (Varview), ARHGEF35-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000245/4 (ALFA)
G=0.000029/4 (GnomAD)
HGVS:: NC_000007.14:g.144280748A>G, NC_000007.13:g.143977841A>G, NW_018654715.1:g.235342A>G

Select item 148946965520.

rs1489469655 [Homo sapiens]

Variant type:: INS
Alleles:: ->CTG [Show Flanks]
Chromosome:: 7:144267287 (GRCh38)
7:143964381 (GRCh37)
Canonical SPDI:: NC_000007.14:144267287::CTG
Gene:: ARHGEF34P (Varview), CTAGE8 (Varview), OR2A1-AS1 (Varview), ARHGEF35-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,inframe_indel
HGVS:: NC_000007.14:g.144267287_144267288insCTG, NC_000007.13:g.143964380_143964381insCTG, NW_018654715.1:g.221881_221882insCTG, NM_001278507.2:c.1963_1964insCAG, NM_001278507.1:c.1963_1964insCAG, NP_001265436.1:p.Arg655delinsThrGly

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