SNP Links for Nucleotide (Select 406362858) - SNP

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:29464829 (GRCh38)
12:29617762 (GRCh37)
Canonical SPDI:: NC_000012.12:29464828:C:A
Gene:: OVCH1 (Varview), OVCH1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.29464829C>A, NC_000012.11:g.29617762C>A, NR_073170.1:n.1186C>A, NR_073171.1:n.1124C>A

Select item 14854359016.

rs1485435901 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 12:29389587 (GRCh38)
12:29542520 (GRCh37)
Canonical SPDI:: NC_000012.12:29389586:C:G,NC_000012.12:29389586:C:T
Gene:: OVCH1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000087/2 (ALFA)
G=0.000008/1 (GnomAD_exomes)
T=0.000019/5 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.29389587C>G, NC_000012.12:g.29389587C>T, NC_000012.11:g.29542520C>G, NC_000012.11:g.29542520C>T, NR_073170.1:n.294C>G, NR_073170.1:n.294C>T, NR_073171.1:n.294C>G, NR_073171.1:n.294C>T, NR_073172.1:n.294C>G, NR_073172.1:n.294C>T

Select item 14846710257.

rs1484671025 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:29389546 (GRCh38)
12:29542479 (GRCh37)
Canonical SPDI:: NC_000012.12:29389545:G:A
Gene:: OVCH1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000113/2 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.29389546G>A, NC_000012.11:g.29542479G>A, NR_073170.1:n.253G>A, NR_073171.1:n.253G>A, NR_073172.1:n.253G>A

Select item 14846035938.

rs1484603593 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:29389525 (GRCh38)
12:29542458 (GRCh37)
Canonical SPDI:: NC_000012.12:29389524:C:A
Gene:: OVCH1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.29389525C>A, NC_000012.11:g.29542458C>A, NR_073170.1:n.232C>A, NR_073171.1:n.232C>A, NR_073172.1:n.232C>A

Select item 14809445019.

rs1480944501 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:29464435 (GRCh38)
12:29617368 (GRCh37)
Canonical SPDI:: NC_000012.12:29464434:G:A
Gene:: OVCH1 (Varview), OVCH1-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.29464435G>A, NC_000012.11:g.29617368G>A, NR_073170.1:n.792G>A, NR_073171.1:n.730G>A

Select item 147664162010.

rs1476641620 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:29464689 (GRCh38)
12:29617622 (GRCh37)
Canonical SPDI:: NC_000012.12:29464688:T:C
Gene:: OVCH1 (Varview), OVCH1-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.29464689T>C, NC_000012.11:g.29617622T>C, XM_011520640.3:c.2048A>G, XM_011520640.2:c.2048A>G, XM_011520640.1:c.2048A>G, XM_011520638.3:c.2048A>G, XM_011520638.2:c.2048A>G, XM_011520638.1:c.2048A>G, XM_011520641.3:c.2048A>G, XM_011520641.2:c.2048A>G, XM_011520641.1:c.2048A>G, XM_024448968.2:c.2048A>G, XM_024448968.1:c.2048A>G, XM_017019256.2:c.2048A>G, XM_017019256.1:c.2048A>G, NM_001353179.2:c.2048A>G, NM_001353179.1:c.2048A>G, NM_183378.2:c.1943A>G, XM_047428780.1:c.746A>G, XM_047428777.1:c.2048A>G, XM_047428778.1:c.2048A>G, XM_047428779.1:c.2048A>G, NR_073170.1:n.1046T>C, NR_073171.1:n.984T>C, XP_011518942.1:p.Lys683Arg, XP_011518940.1:p.Lys683Arg, XP_011518943.1:p.Lys683Arg, XP_024304736.1:p.Lys683Arg, XP_016874745.1:p.Lys683Arg, NP_001340108.1:p.Lys683Arg, XP_047284736.1:p.Lys249Arg, XP_047284733.1:p.Lys683Arg, XP_047284734.1:p.Lys683Arg, XP_047284735.1:p.Lys683Arg

Select item 147634208111.

rs1476342081 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:29464679 (GRCh38)
12:29617612 (GRCh37)
Canonical SPDI:: NC_000012.12:29464678:T:G
Gene:: OVCH1 (Varview), OVCH1-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.29464679T>G, NC_000012.11:g.29617612T>G, XM_011520640.3:c.2058A>C, XM_011520640.2:c.2058A>C, XM_011520640.1:c.2058A>C, XM_011520638.3:c.2058A>C, XM_011520638.2:c.2058A>C, XM_011520638.1:c.2058A>C, XM_011520641.3:c.2058A>C, XM_011520641.2:c.2058A>C, XM_011520641.1:c.2058A>C, XM_024448968.2:c.2058A>C, XM_024448968.1:c.2058A>C, XM_017019256.2:c.2058A>C, XM_017019256.1:c.2058A>C, NM_001353179.2:c.2058A>C, NM_001353179.1:c.2058A>C, NM_183378.2:c.1953A>C, XM_047428780.1:c.756A>C, XM_047428777.1:c.2058A>C, XM_047428778.1:c.2058A>C, XM_047428779.1:c.2058A>C, NR_073170.1:n.1036T>G, NR_073171.1:n.974T>G

Select item 147591114712.

rs1475911147 [Homo sapiens]

Variant type:: DELINS
Alleles:: CGCCGGCCGCCGCGTCTCCCGACCCAAGCC>- [Show Flanks]
Chromosome:: 12:29389538 (GRCh38)
12:29542471 (GRCh37)
Canonical SPDI:: NC_000012.12:29389535:CCCGCCGGCCGCCGCGTCTCCCGACCCAAGCC:CC
Gene:: OVCH1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.29389538_29389567del, NC_000012.11:g.29542471_29542500del, NR_073170.1:n.245_274del, NR_073171.1:n.245_274del, NR_073172.1:n.245_274del

Select item 147590928213.

rs1475909282 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:29389775 (GRCh38)
12:29542708 (GRCh37)
Canonical SPDI:: NC_000012.12:29389774:G:A
Gene:: OVCH1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant
HGVS:: NC_000012.12:g.29389775G>A, NC_000012.11:g.29542708G>A, NR_073170.1:n.482G>A, NR_073171.1:n.482G>A, NR_073172.1:n.482G>A

Select item 147510576014.

rs1475105760 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:29389720 (GRCh38)
12:29542653 (GRCh37)
Canonical SPDI:: NC_000012.12:29389719:C:G
Gene:: OVCH1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000083/2 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000021/3 (GnomAD)
G=0.000029/4 (GnomAD_exomes)
HGVS:: NC_000012.12:g.29389720C>G, NC_000012.11:g.29542653C>G, NR_073170.1:n.427C>G, NR_073171.1:n.427C>G, NR_073172.1:n.427C>G

Select item 147394621515.

rs1473946215 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AA [Show Flanks]
Chromosome:: 12:29464922 (GRCh38)
12:29617856 (GRCh37)
Canonical SPDI:: NC_000012.12:29464922:AAAA:AAAAAA
Gene:: OVCH1 (Varview), OVCH1-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: AAAAAA=0./0 (ALFA)
AA=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.29464925_29464926dup, NC_000012.11:g.29617858_29617859dup, NR_073170.1:n.1282_1283dup, NR_073171.1:n.1220_1221dup

Select item 147326932116.

rs1473269321 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:29464798 (GRCh38)
12:29617731 (GRCh37)
Canonical SPDI:: NC_000012.12:29464797:A:G
Gene:: OVCH1 (Varview), OVCH1-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000023/6 (TOPMED)
A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000012.12:g.29464798A>G, NC_000012.11:g.29617731A>G, NR_073170.1:n.1155A>G, NR_073171.1:n.1093A>G

Select item 147273961817.

rs1472739618 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AC [Show Flanks]
Chromosome:: 12:29464881 (GRCh38)
12:29617815 (GRCh37)
Canonical SPDI:: NC_000012.12:29464881:CAC:CACAC
Gene:: OVCH1 (Varview), OVCH1-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: CACAC=0./0 (ALFA)
HGVS:: NC_000012.12:g.29464883_29464884dup, NC_000012.11:g.29617816_29617817dup, NR_073170.1:n.1240_1241dup, NR_073171.1:n.1178_1179dup

Select item 147089137418.

rs1470891374 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 12:29389665 (GRCh38)
12:29542598 (GRCh37)
Canonical SPDI:: NC_000012.12:29389664:C:A,NC_000012.12:29389664:C:T
Gene:: OVCH1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000051/1 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.29389665C>A, NC_000012.12:g.29389665C>T, NC_000012.11:g.29542598C>A, NC_000012.11:g.29542598C>T, NR_073170.1:n.372C>A, NR_073170.1:n.372C>T, NR_073171.1:n.372C>A, NR_073171.1:n.372C>T, NR_073172.1:n.372C>A, NR_073172.1:n.372C>T

Select item 146336030519.

rs1463360305 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:29389801 (GRCh38)
12:29542734 (GRCh37)
Canonical SPDI:: NC_000012.12:29389800:G:A
Gene:: OVCH1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.29389801G>A, NC_000012.11:g.29542734G>A, NR_073170.1:n.508G>A, NR_073171.1:n.508G>A, NR_073172.1:n.508G>A

Select item 146233266720.

rs1462332667 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:29461889 (GRCh38)
12:29614822 (GRCh37)
Canonical SPDI:: NC_000012.12:29461888:C:T
Gene:: OVCH1 (Varview), OVCH1-AS1 (Varview)
Functional Consequence:: intron_variant,missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.29461889C>T, NC_000012.11:g.29614822C>T, XM_011520640.3:c.2350G>A, XM_011520640.2:c.2350G>A, XM_011520640.1:c.2350G>A, XM_011520638.3:c.2350G>A, XM_011520638.2:c.2350G>A, XM_011520638.1:c.2350G>A, XM_011520641.3:c.2350G>A, XM_011520641.2:c.2350G>A, XM_011520641.1:c.2350G>A, XM_024448968.2:c.2350G>A, XM_024448968.1:c.2350G>A, XM_017019256.2:c.2350G>A, XM_017019256.1:c.2350G>A, NM_001353179.2:c.2350G>A, NM_001353179.1:c.2350G>A, NM_183378.2:c.2245G>A, XM_047428780.1:c.1048G>A, XM_047428777.1:c.2350G>A, XM_047428778.1:c.2350G>A, XM_047428779.1:c.2350G>A, NR_073170.1:n.716C>T, NR_073171.1:n.654C>T, XP_011518942.1:p.Gly784Ser, XP_011518940.1:p.Gly784Ser, XP_011518943.1:p.Gly784Ser, XP_024304736.1:p.Gly784Ser, XP_016874745.1:p.Gly784Ser, NP_001340108.1:p.Gly784Ser, XP_047284736.1:p.Gly350Ser, XP_047284733.1:p.Gly784Ser, XP_047284734.1:p.Gly784Ser, XP_047284735.1:p.Gly784Ser

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