SNP Links for Gene (Select 7035) - SNP

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Select item 14914980901.

rs1491498090 has merged into rs8176561 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>-,CC [Show Flanks]
Chromosome:: 2:187473813 (GRCh38)
2:188338540 (GRCh37)
Canonical SPDI:: NC_000002.12:187473812:CCCCCC:CCCCC,NC_000002.12:187473812:CCCCCC:CCCCCCC
Gene:: TFPI (Varview), CALCRL-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCC=0./0 (ALFA)
HGVS:: NC_000002.12:g.187473818del, NC_000002.12:g.187473818dup, NC_000002.11:g.188338545del, NC_000002.11:g.188338545dup, NG_029714.2:g.96948del, NG_029714.2:g.96948dup

Select item 14914153122.

rs1491415312 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAA,AAGAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:187465493 (GRCh38)
2:188330221 (GRCh37)
Canonical SPDI:: NC_000002.12:187465493:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAA,NC_000002.12:187465493:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAA
Gene:: TFPI (Varview), CALCRL-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG=0.00002/1 (GnomAD)
HGVS:: NC_000002.12:g.187465494_187465507A[35]GAAAAAAAAAAAAAA[1], NC_000002.12:g.187465494_187465507A[16]GAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAA[1], NC_000002.11:g.188330221_188330234A[35]GAAAAAAAAAAAAAA[1], NC_000002.11:g.188330221_188330234A[16]GAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAA[1], NG_029714.2:g.105254_105267T[14]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_029714.2:g.105254_105267T[14]ATTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTT[1], NM_006287.6:c.*1429_*1442T[14]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NM_006287.6:c.*1429_*1442T[14]ATTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTT[1], NM_006287.5:c.*1429_*1442T[14]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NM_006287.5:c.*1429_*1442T[14]ATTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTT[1], NM_006287.4:c.*1429_*1442T[14]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NM_006287.4:c.*1429_*1442T[14]ATTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTT[1], NM_001329239.2:c.*1429_*1442T[14]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NM_001329239.2:c.*1429_*1442T[14]ATTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTT[1], NM_001329239.1:c.*1429_*1442T[14]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NM_001329239.1:c.*1429_*1442T[14]ATTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTT[1], NM_001329241.2:c.*1429_*1442T[14]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NM_001329241.2:c.*1429_*1442T[14]ATTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTT[1], NM_001329241.1:c.*1429_*1442T[14]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NM_001329241.1:c.*1429_*1442T[14]ATTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTT[1], NM_001329240.2:c.*1429_*1442T[14]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NM_001329240.2:c.*1429_*1442T[14]ATTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTT[1], NM_001329240.1:c.*1429_*1442T[14]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NM_001329240.1:c.*1429_*1442T[14]ATTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTT[1], XM_047445617.1:c.*1429_*1442T[14]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], XM_047445617.1:c.*1429_*1442T[14]ATTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTT[1], XM_047445618.1:c.*1429_*1442T[14]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], XM_047445618.1:c.*1429_*1442T[14]ATTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTT[1], XM_047445621.1:c.*1429_*1442T[14]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], XM_047445621.1:c.*1429_*1442T[14]ATTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTT[1], XM_047445619.1:c.*1429_*1442T[14]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], XM_047445619.1:c.*1429_*1442T[14]ATTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTT[1], XM_047445620.1:c.*1429_*1442T[14]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], XM_047445620.1:c.*1429_*1442T[14]ATTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTT[1], XM_047445622.1:c.*1429_*1442T[14]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], XM_047445622.1:c.*1429_*1442T[14]ATTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTT[1]

Select item 14913691143.

rs1491369114 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:187465471 (GRCh38)
2:188330198 (GRCh37)
Canonical SPDI:: NC_000002.12:187465469:ACA:A
Gene:: TFPI (Varview), CALCRL-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000008/1 (GnomAD)
HGVS:: NC_000002.12:g.187465471_187465472del, NC_000002.11:g.188330198_188330199del, NG_029714.2:g.105290_105291del, NM_006287.6:c.*1465_*1466del, NM_006287.5:c.*1465_*1466del, NM_006287.4:c.*1465_*1466del, NM_001329239.2:c.*1465_*1466del, NM_001329239.1:c.*1465_*1466del, NM_001329241.2:c.*1465_*1466del, NM_001329241.1:c.*1465_*1466del, NM_001329240.2:c.*1465_*1466del, NM_001329240.1:c.*1465_*1466del, XM_047445617.1:c.*1465_*1466del, XM_047445618.1:c.*1465_*1466del, XM_047445621.1:c.*1465_*1466del, XM_047445619.1:c.*1465_*1466del, XM_047445620.1:c.*1465_*1466del, XM_047445622.1:c.*1465_*1466del

Select item 14913611204.

rs1491361120 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 2:187503462 (GRCh38)
2:188368189 (GRCh37)
Canonical SPDI:: NC_000002.12:187503461:TA:
Gene:: TFPI (Varview), CALCRL-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
-=0.00003/2 (GnomAD)
HGVS:: NC_000002.12:g.187503462_187503463del, NC_000002.11:g.188368189_188368190del, NG_029714.2:g.67298_67299del

Select item 14913144745.

rs1491314474 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 2:187473812 (GRCh38)
2:188338539 (GRCh37)
Canonical SPDI:: NC_000002.12:187473811:TC:
Gene:: TFPI (Varview), CALCRL-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000002.12:g.187473812_187473813del, NC_000002.11:g.188338539_188338540del, NG_029714.2:g.96948_96949del

Select item 14911926286.

rs1491192628 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:187479546 (GRCh38)
2:188344273 (GRCh37)
Canonical SPDI:: NC_000002.12:187479545:CA:
Gene:: TFPI (Varview), CALCRL-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000002.12:g.187479546_187479547del, NC_000002.11:g.188344273_188344274del, NG_029714.2:g.91214_91215del

Select item 14911114267.

rs1491111426 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AA,T [Show Flanks]
Chromosome:: 2:187465567 (GRCh38)
2:188330295 (GRCh37)
Canonical SPDI:: NC_000002.12:187465567::A,NC_000002.12:187465567::AA,NC_000002.12:187465567::T
Gene:: TFPI (Varview), CALCRL-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
HGVS:: NC_000002.12:g.187465567_187465568insA, NC_000002.12:g.187465567_187465568insAA, NC_000002.12:g.187465567_187465568insT, NC_000002.11:g.188330294_188330295insA, NC_000002.11:g.188330294_188330295insAA, NC_000002.11:g.188330294_188330295insT, NG_029714.2:g.105193_105194insT, NG_029714.2:g.105193_105194insTT, NG_029714.2:g.105193_105194insA, NM_006287.6:c.*1368_*1369insT, NM_006287.6:c.*1368_*1369insTT, NM_006287.6:c.*1368_*1369insA, NM_006287.5:c.*1368_*1369insT, NM_006287.5:c.*1368_*1369insTT, NM_006287.5:c.*1368_*1369insA, NM_006287.4:c.*1368_*1369insT, NM_006287.4:c.*1368_*1369insTT, NM_006287.4:c.*1368_*1369insA, NM_001329239.2:c.*1368_*1369insT, NM_001329239.2:c.*1368_*1369insTT, NM_001329239.2:c.*1368_*1369insA, NM_001329239.1:c.*1368_*1369insT, NM_001329239.1:c.*1368_*1369insTT, NM_001329239.1:c.*1368_*1369insA, NM_001329241.2:c.*1368_*1369insT, NM_001329241.2:c.*1368_*1369insTT, NM_001329241.2:c.*1368_*1369insA, NM_001329241.1:c.*1368_*1369insT, NM_001329241.1:c.*1368_*1369insTT, NM_001329241.1:c.*1368_*1369insA, NM_001329240.2:c.*1368_*1369insT, NM_001329240.2:c.*1368_*1369insTT, NM_001329240.2:c.*1368_*1369insA, NM_001329240.1:c.*1368_*1369insT, NM_001329240.1:c.*1368_*1369insTT, NM_001329240.1:c.*1368_*1369insA, XM_047445617.1:c.*1368_*1369insT, XM_047445617.1:c.*1368_*1369insTT, XM_047445617.1:c.*1368_*1369insA, XM_047445618.1:c.*1368_*1369insT, XM_047445618.1:c.*1368_*1369insTT, XM_047445618.1:c.*1368_*1369insA, XM_047445621.1:c.*1368_*1369insT, XM_047445621.1:c.*1368_*1369insTT, XM_047445621.1:c.*1368_*1369insA, XM_047445619.1:c.*1368_*1369insT, XM_047445619.1:c.*1368_*1369insTT, XM_047445619.1:c.*1368_*1369insA, XM_047445620.1:c.*1368_*1369insT, XM_047445620.1:c.*1368_*1369insTT, XM_047445620.1:c.*1368_*1369insA, XM_047445622.1:c.*1368_*1369insT, XM_047445622.1:c.*1368_*1369insTT, XM_047445622.1:c.*1368_*1369insA

Select item 14910835548.

rs1491083554 has merged into rs143585752 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:187512287 (GRCh38)
2:188377014 (GRCh37)
Canonical SPDI:: NC_000002.12:187512277:AAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000002.12:187512277:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:187512277:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:187512277:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:187512277:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:187512277:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:187512277:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:187512277:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:187512277:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:187512277:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:187512277:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:187512277:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:187512277:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:187512277:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:187512277:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:187512277:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:187512277:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: TFPI (Varview), CALCRL-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.375/15 (GENOME_DK)
HGVS:: NC_000002.12:g.187512287_187512295del, NC_000002.12:g.187512290_187512295del, NC_000002.12:g.187512291_187512295del, NC_000002.12:g.187512292_187512295del, NC_000002.12:g.187512293_187512295del, NC_000002.12:g.187512294_187512295del, NC_000002.12:g.187512295del, NC_000002.12:g.187512295dup, NC_000002.12:g.187512294_187512295dup, NC_000002.12:g.187512293_187512295dup, NC_000002.12:g.187512289_187512295dup, NC_000002.12:g.187512288_187512295dup, NC_000002.12:g.187512287_187512295dup, NC_000002.12:g.187512286_187512295dup, NC_000002.12:g.187512284_187512295dup, NC_000002.12:g.187512279_187512295dup, NC_000002.12:g.187512278_187512295dup, NC_000002.11:g.188377014_188377022del, NC_000002.11:g.188377017_188377022del, NC_000002.11:g.188377018_188377022del, NC_000002.11:g.188377019_188377022del, NC_000002.11:g.188377020_188377022del, NC_000002.11:g.188377021_188377022del, NC_000002.11:g.188377022del, NC_000002.11:g.188377022dup, NC_000002.11:g.188377021_188377022dup, NC_000002.11:g.188377020_188377022dup, NC_000002.11:g.188377016_188377022dup, NC_000002.11:g.188377015_188377022dup, NC_000002.11:g.188377014_188377022dup, NC_000002.11:g.188377013_188377022dup, NC_000002.11:g.188377011_188377022dup, NC_000002.11:g.188377006_188377022dup, NC_000002.11:g.188377005_188377022dup, NG_029714.2:g.58475_58483del, NG_029714.2:g.58478_58483del, NG_029714.2:g.58479_58483del, NG_029714.2:g.58480_58483del, NG_029714.2:g.58481_58483del, NG_029714.2:g.58482_58483del, NG_029714.2:g.58483del, NG_029714.2:g.58483dup, NG_029714.2:g.58482_58483dup, NG_029714.2:g.58481_58483dup, NG_029714.2:g.58477_58483dup, NG_029714.2:g.58476_58483dup, NG_029714.2:g.58475_58483dup, NG_029714.2:g.58474_58483dup, NG_029714.2:g.58472_58483dup, NG_029714.2:g.58467_58483dup, NG_029714.2:g.58466_58483dup

Select item 14910303769.

rs1491030376 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 2:187468291 (GRCh38)
2:188333018 (GRCh37)
Canonical SPDI:: NC_000002.12:187468290:AT:
Gene:: TFPI (Varview), CALCRL-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000035/1 (TOMMO)
-=0.000051/7 (GnomAD)
HGVS:: NC_000002.12:g.187468291_187468292del, NC_000002.11:g.188333018_188333019del, NG_029714.2:g.102469_102470del

Select item 149101830610.

rs1491018306 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>-,TATA [Show Flanks]
Chromosome:: 2:187503502 (GRCh38)
2:188368229 (GRCh37)
Canonical SPDI:: NC_000002.12:187503500:ATA:A,NC_000002.12:187503500:ATA:ATATA
Gene:: TFPI (Varview), CALCRL-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00017/2 (ALFA)
-=0.00011/2 (TOMMO)
-=0.00055/1 (Korea1K)
HGVS:: NC_000002.12:g.187503502_187503503del, NC_000002.12:g.187503502_187503503dup, NC_000002.11:g.188368229_188368230del, NC_000002.11:g.188368229_188368230dup, NG_029714.2:g.67259_67260del, NG_029714.2:g.67259_67260dup

Select item 149101664911.

rs1491016649 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:187511959 (GRCh38)
2:188376686 (GRCh37)
Canonical SPDI:: NC_000002.12:187511957:ACA:A
Gene:: TFPI (Varview), CALCRL-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000026/7 (TOPMED)
HGVS:: NC_000002.12:g.187511959_187511960del, NC_000002.11:g.188376686_188376687del, NG_029714.2:g.58802_58803del

Select item 149100402212.

rs1491004022 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:187547977 (GRCh38)
2:188412704 (GRCh37)
Canonical SPDI:: NC_000002.12:187547976:A:C
Gene:: TFPI (Varview), CALCRL-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.187547977A>C, NC_000002.11:g.188412704A>C, NG_029714.2:g.22784T>G, NG_082765.1:g.1249A>C, XR_001739821.2:n.1659A>C, XR_001739822.2:n.1548A>C, XR_007087504.1:n.4768A>C, XR_007087482.1:n.1340A>C, XR_007087490.1:n.1272A>C, XR_007087517.1:n.1049A>C, XR_007087497.1:n.953A>C

Select item 149098604113.

rs1490986041 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:187516946 (GRCh38)
2:188381673 (GRCh37)
Canonical SPDI:: NC_000002.12:187516945:G:T
Gene:: TFPI (Varview), CALCRL-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.187516946G>T, NC_000002.11:g.188381673G>T, NG_029714.2:g.53815C>A

Select item 149097180314.

rs1490971803 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:187471778 (GRCh38)
2:188336505 (GRCh37)
Canonical SPDI:: NC_000002.12:187471777:G:C
Gene:: TFPI (Varview), CALCRL-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.187471778G>C, NC_000002.11:g.188336505G>C, NG_029714.2:g.98983C>G

Select item 149096802815.

rs1490968028 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:187549223 (GRCh38)
2:188413950 (GRCh37)
Canonical SPDI:: NC_000002.12:187549222:A:G
Gene:: TFPI (Varview), CALCRL-AS1 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,genic_downstream_transcript_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_000002.12:g.187549223A>G, NC_000002.11:g.188413950A>G, NG_029714.2:g.21538T>C

Select item 149096793916.

rs1490967939 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:187554847 (GRCh38)
2:188419574 (GRCh37)
Canonical SPDI:: NC_000002.12:187554846:A:T
Gene:: TFPI (Varview), CALCRL-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,2KB_upstream_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_000002.12:g.187554847A>T, NC_000002.11:g.188419574A>T, NG_029714.2:g.15914T>A

Select item 149095324817.

rs1490953248 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 2:187489076 (GRCh38)
2:188353803 (GRCh37)
Canonical SPDI:: NC_000002.12:187489075:A:C,NC_000002.12:187489075:A:G
Gene:: TFPI (Varview), CALCRL-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.187489076A>C, NC_000002.12:g.187489076A>G, NC_000002.11:g.188353803A>C, NC_000002.11:g.188353803A>G, NG_029714.2:g.81685T>G, NG_029714.2:g.81685T>C

Select item 149093894918.

rs1490938949 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:187487957 (GRCh38)
2:188352684 (GRCh37)
Canonical SPDI:: NC_000002.12:187487956:A:C
Gene:: TFPI (Varview), CALCRL-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000342/1 (KOREAN)
C=0.000495/8 (TOMMO)
HGVS:: NC_000002.12:g.187487957A>C, NC_000002.11:g.188352684A>C, NG_029714.2:g.82804T>G

Select item 149089537019.

rs1490895370 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:187506675 (GRCh38)
2:188371402 (GRCh37)
Canonical SPDI:: NC_000002.12:187506674:A:G
Gene:: TFPI (Varview), CALCRL-AS1 (Varview)
Functional Consequence:: 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_000002.12:g.187506675A>G, NC_000002.11:g.188371402A>G, NG_029714.2:g.64086T>C

Select item 149079882820.

rs1490798828 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:187539569 (GRCh38)
2:188404296 (GRCh37)
Canonical SPDI:: NC_000002.12:187539568:A:C
Gene:: TFPI (Varview), CALCRL-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.187539569A>C, NC_000002.11:g.188404296A>C, NG_029714.2:g.31192T>G

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