SNP Links for Gene (Select 8448) - SNP

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Select item 14915083951.

rs1491508395 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,ATA,ATATA,ATATATA,ATATATATA,ATATATATATA,ATATATATATATA,ATATATATATATATA,ATATATATATATATATA,ATATATATATATATATATA,ATATATATATATATATATATA,ATATATATATATATATATATATA [Show Flanks]
Chromosome:: 16:30016056 (GRCh38)
16:30027378 (GRCh37)
Canonical SPDI:: NC_000016.10:30016056::A,NC_000016.10:30016056::ATA,NC_000016.10:30016056::ATATA,NC_000016.10:30016056::ATATATA,NC_000016.10:30016056::ATATATATA,NC_000016.10:30016056::ATATATATATA,NC_000016.10:30016056::ATATATATATATA,NC_000016.10:30016056::ATATATATATATATA,NC_000016.10:30016056::ATATATATATATATATA,NC_000016.10:30016056::ATATATATATATATATATA,NC_000016.10:30016056::ATATATATATATATATATATA,NC_000016.10:30016056::ATATATATATATATATATATATA
Gene:: DOC2A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATA=0./0 (ALFA)
HGVS:: NC_000016.10:g.30016056_30016057insA, NC_000016.10:g.30016056_30016057insATA, NC_000016.10:g.30016056_30016057insATATA, NC_000016.10:g.30016056_30016057insATATATA, NC_000016.10:g.30016056_30016057insATATATATA, NC_000016.10:g.30016056_30016057insATATATATATA, NC_000016.10:g.30016056_30016057insATATATATATATA, NC_000016.10:g.30016056_30016057insATATATATATATATA, NC_000016.10:g.30016056_30016057insATATATATATATATATA, NC_000016.10:g.30016056_30016057insATATATATATATATATATA, NC_000016.10:g.30016056_30016057insATATATATATATATATATATA, NC_000016.10:g.30016056_30016057insATATATATATATATATATATATA, NC_000016.9:g.30027377_30027378insA, NC_000016.9:g.30027377_30027378insATA, NC_000016.9:g.30027377_30027378insATATA, NC_000016.9:g.30027377_30027378insATATATA, NC_000016.9:g.30027377_30027378insATATATATA, NC_000016.9:g.30027377_30027378insATATATATATA, NC_000016.9:g.30027377_30027378insATATATATATATA, NC_000016.9:g.30027377_30027378insATATATATATATATA, NC_000016.9:g.30027377_30027378insATATATATATATATATA, NC_000016.9:g.30027377_30027378insATATATATATATATATATA, NC_000016.9:g.30027377_30027378insATATATATATATATATATATA, NC_000016.9:g.30027377_30027378insATATATATATATATATATATATA

Select item 14913918102.

rs1491391810 has merged into rs59271933 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 16:30016066 (GRCh38)
16:30027387 (GRCh37)
Canonical SPDI:: NC_000016.10:30016055:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000016.10:30016055:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:30016055:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:30016055:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:30016055:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:30016055:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:30016055:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:30016055:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:30016055:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:30016055:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:30016055:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:30016055:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:30016055:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:30016055:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:30016055:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:30016055:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:30016055:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:30016055:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:30016055:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: DOC2A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
TTT=0.0171/21 (Korea1K)
TTTTTTTT=0.425/17 (GENOME_DK)
HGVS:: NC_000016.10:g.30016066_30016078del, NC_000016.10:g.30016068_30016078del, NC_000016.10:g.30016069_30016078del, NC_000016.10:g.30016070_30016078del, NC_000016.10:g.30016071_30016078del, NC_000016.10:g.30016072_30016078del, NC_000016.10:g.30016073_30016078del, NC_000016.10:g.30016074_30016078del, NC_000016.10:g.30016075_30016078del, NC_000016.10:g.30016076_30016078del, NC_000016.10:g.30016077_30016078del, NC_000016.10:g.30016078del, NC_000016.10:g.30016078dup, NC_000016.10:g.30016077_30016078dup, NC_000016.10:g.30016076_30016078dup, NC_000016.10:g.30016075_30016078dup, NC_000016.10:g.30016074_30016078dup, NC_000016.10:g.30016073_30016078dup, NC_000016.10:g.30016072_30016078dup, NC_000016.9:g.30027387_30027399del, NC_000016.9:g.30027389_30027399del, NC_000016.9:g.30027390_30027399del, NC_000016.9:g.30027391_30027399del, NC_000016.9:g.30027392_30027399del, NC_000016.9:g.30027393_30027399del, NC_000016.9:g.30027394_30027399del, NC_000016.9:g.30027395_30027399del, NC_000016.9:g.30027396_30027399del, NC_000016.9:g.30027397_30027399del, NC_000016.9:g.30027398_30027399del, NC_000016.9:g.30027399del, NC_000016.9:g.30027399dup, NC_000016.9:g.30027398_30027399dup, NC_000016.9:g.30027397_30027399dup, NC_000016.9:g.30027396_30027399dup, NC_000016.9:g.30027395_30027399dup, NC_000016.9:g.30027394_30027399dup, NC_000016.9:g.30027393_30027399dup

Select item 14911620623.

rs1491162062 has merged into rs34061843 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 16:30018115 (GRCh38)
16:30029436 (GRCh37)
Canonical SPDI:: NC_000016.10:30018103:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000016.10:30018103:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:30018103:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:30018103:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:30018103:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:30018103:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:30018103:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:30018103:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:30018103:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:30018103:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000016.10:30018103:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000016.10:30018103:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:30018103:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:30018103:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:30018103:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:30018103:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:30018103:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:30018103:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: DOC2A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.25/10 (GENOME_DK)
HGVS:: NC_000016.10:g.30018115_30018129del, NC_000016.10:g.30018116_30018129del, NC_000016.10:g.30018117_30018129del, NC_000016.10:g.30018118_30018129del, NC_000016.10:g.30018119_30018129del, NC_000016.10:g.30018120_30018129del, NC_000016.10:g.30018121_30018129del, NC_000016.10:g.30018122_30018129del, NC_000016.10:g.30018123_30018129del, NC_000016.10:g.30018124_30018129del, NC_000016.10:g.30018125_30018129del, NC_000016.10:g.30018126_30018129del, NC_000016.10:g.30018127_30018129del, NC_000016.10:g.30018128_30018129del, NC_000016.10:g.30018129del, NC_000016.10:g.30018129dup, NC_000016.10:g.30018128_30018129dup, NC_000016.10:g.30018127_30018129dup, NC_000016.9:g.30029436_30029450del, NC_000016.9:g.30029437_30029450del, NC_000016.9:g.30029438_30029450del, NC_000016.9:g.30029439_30029450del, NC_000016.9:g.30029440_30029450del, NC_000016.9:g.30029441_30029450del, NC_000016.9:g.30029442_30029450del, NC_000016.9:g.30029443_30029450del, NC_000016.9:g.30029444_30029450del, NC_000016.9:g.30029445_30029450del, NC_000016.9:g.30029446_30029450del, NC_000016.9:g.30029447_30029450del, NC_000016.9:g.30029448_30029450del, NC_000016.9:g.30029449_30029450del, NC_000016.9:g.30029450del, NC_000016.9:g.30029450dup, NC_000016.9:g.30029449_30029450dup, NC_000016.9:g.30029448_30029450dup

Select item 14911512274.

rs1491151227 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 16:30018103 (GRCh38)
16:30029424 (GRCh37)
Canonical SPDI:: NC_000016.10:30018102:CA:
Gene:: DOC2A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00228/27 (ALFA)
HGVS:: NC_000016.10:g.30018103_30018104del, NC_000016.9:g.30029424_30029425del

Select item 14910182275.

rs1491018227 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAAAAAAAAACA,AAAAACA [Show Flanks]
Chromosome:: 16:30013626 (GRCh38)
16:30024948 (GRCh37)
Canonical SPDI:: NC_000016.10:30013626:A:AAAAAAAAAAACA,NC_000016.10:30013626:A:AAAAAACA
Gene:: DOC2A (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
HGVS:: NC_000016.10:g.30013627A[11]CA[1], NC_000016.10:g.30013627A[6]CA[1], NC_000016.9:g.30024948A[11]CA[1], NC_000016.9:g.30024948A[6]CA[1]

Select item 14908927836.

rs1490892783 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:30015572 (GRCh38)
16:30026893 (GRCh37)
Canonical SPDI:: NC_000016.10:30015571:C:A
Gene:: DOC2A (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.30015572C>A, NC_000016.9:g.30026893C>A

Select item 14908744277.

rs1490874427 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:30019494 (GRCh38)
16:30030815 (GRCh37)
Canonical SPDI:: NC_000016.10:30019493:C:A
Gene:: DOC2A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.30019494C>A, NC_000016.9:g.30030815C>A

Select item 14907453028.

rs1490745302 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:30009679 (GRCh38)
16:30021000 (GRCh37)
Canonical SPDI:: NC_000016.10:30009678:G:A
Gene:: DOC2A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.30009679G>A, NC_000016.9:g.30021000G>A

Select item 14905821909.

rs1490582190 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:30009264 (GRCh38)
16:30020585 (GRCh37)
Canonical SPDI:: NC_000016.10:30009263:T:C
Gene:: DOC2A (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000016.10:g.30009264T>C, NC_000016.9:g.30020585T>C, NM_003586.3:c.355A>G, NM_003586.2:c.355A>G, NM_001282063.2:c.355A>G, NM_001282063.1:c.355A>G, NM_001282068.2:c.355A>G, NM_001282068.1:c.355A>G, NR_104089.2:n.284A>G, NR_104089.1:n.337A>G, NR_104090.2:n.284A>G, NR_104090.1:n.337A>G, XM_047434803.1:c.355A>G, XM_047434802.1:c.355A>G, XM_047434805.1:c.355A>G, XM_047434804.1:c.355A>G, XM_047434807.1:c.355A>G, XM_047434806.1:c.355A>G, NM_001282062.1:c.355A>G, NP_003577.2:p.Met119Val, NP_001268992.1:p.Met119Val, NP_001268997.1:p.Met119Val, XP_047290759.1:p.Met119Val, XP_047290758.1:p.Met119Val, XP_047290761.1:p.Met119Val, XP_047290760.1:p.Met119Val, XP_047290763.1:p.Met119Val, XP_047290762.1:p.Met119Val, NP_001268991.1:p.Met119Val

Select item 149055644310.

rs1490556443 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:30010086 (GRCh38)
16:30021407 (GRCh37)
Canonical SPDI:: NC_000016.10:30010085:C:A
Gene:: DOC2A (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.30010086C>A, NC_000016.9:g.30021407C>A, NM_003586.3:c.137G>T, NM_003586.2:c.137G>T, NM_001282063.2:c.137G>T, NM_001282063.1:c.137G>T, NM_001282068.2:c.137G>T, NM_001282068.1:c.137G>T, XM_047434803.1:c.137G>T, XM_047434802.1:c.137G>T, XM_047434805.1:c.137G>T, XM_047434804.1:c.137G>T, XM_047434807.1:c.137G>T, XM_047434806.1:c.137G>T, NM_001282062.1:c.137G>T, NP_003577.2:p.Gly46Val, NP_001268992.1:p.Gly46Val, NP_001268997.1:p.Gly46Val, XP_047290759.1:p.Gly46Val, XP_047290758.1:p.Gly46Val, XP_047290761.1:p.Gly46Val, XP_047290760.1:p.Gly46Val, XP_047290763.1:p.Gly46Val, XP_047290762.1:p.Gly46Val, NP_001268991.1:p.Gly46Val

Select item 149030667111.

rs1490306671 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:30009770 (GRCh38)
16:30021091 (GRCh37)
Canonical SPDI:: NC_000016.10:30009769:T:C
Gene:: DOC2A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.30009770T>C, NC_000016.9:g.30021091T>C

Select item 149029970012.

rs1490299700 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:30022957 (GRCh38)
16:30034278 (GRCh37)
Canonical SPDI:: NC_000016.10:30022956:T:C
Gene:: DOC2A (Varview), C16orf92 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000016.10:g.30022957T>C, NC_000016.9:g.30034278T>C

Select item 149010130613.

rs1490101306 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATATATATATATATATATT>- [Show Flanks]
Chromosome:: 16:30016039 (GRCh38)
16:30027360 (GRCh37)
Canonical SPDI:: NC_000016.10:30016037:TATATATATATATATATATT:T
Gene:: DOC2A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.0001/3 (GnomAD)
-=0.00019/2 (TOMMO)
HGVS:: NC_000016.10:g.30016039_30016057del, NC_000016.9:g.30027360_30027378del

Select item 149007654314.

rs1490076543 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:30022989 (GRCh38)
16:30034310 (GRCh37)
Canonical SPDI:: NC_000016.10:30022988:G:A
Gene:: DOC2A (Varview), C16orf92 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.30022989G>A, NC_000016.9:g.30034310G>A

Select item 149007604415.

rs1490076044 [Homo sapiens]

Variant type:: DELINS
Alleles:: AATA>- [Show Flanks]
Chromosome:: 16:30015140 (GRCh38)
16:30026461 (GRCh37)
Canonical SPDI:: NC_000016.10:30015135:AATAAATA:AATA
Gene:: DOC2A (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AATAAATA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.30015136AATA[1], NC_000016.9:g.30026457AATA[1]

Select item 149006100316.

rs1490061003 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 16:30020581 (GRCh38)
16:30031902 (GRCh37)
Canonical SPDI:: NC_000016.10:30020580:G:A,NC_000016.10:30020580:G:T
Gene:: DOC2A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.00006/16 (TOPMED)
HGVS:: NC_000016.10:g.30020581G>A, NC_000016.10:g.30020581G>T, NC_000016.9:g.30031902G>A, NC_000016.9:g.30031902G>T

Select item 149002093917.

rs1490020939 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:30013797 (GRCh38)
16:30025118 (GRCh37)
Canonical SPDI:: NC_000016.10:30013796:C:G
Gene:: DOC2A (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
HGVS:: NC_000016.10:g.30013797C>G, NC_000016.9:g.30025118C>G

Select item 148972741118.

rs1489727411 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:30008869 (GRCh38)
16:30020190 (GRCh37)
Canonical SPDI:: NC_000016.10:30008868:G:A
Gene:: DOC2A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.30008869G>A, NC_000016.9:g.30020190G>A

Select item 148963132919.

rs1489631329 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:30014632 (GRCh38)
16:30025953 (GRCh37)
Canonical SPDI:: NC_000016.10:30014631:C:G
Gene:: DOC2A (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.30014632C>G, NC_000016.9:g.30025953C>G

Select item 148958429920.

rs1489584299 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:30011850 (GRCh38)
16:30023171 (GRCh37)
Canonical SPDI:: NC_000016.10:30011849:A:G
Gene:: DOC2A (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_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_000016.10:g.30011850A>G, NC_000016.9:g.30023171A>G

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