SNP Links for Nucleotide (Select 937347312) - SNP

Links from Nucleotide

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Select item 14913957961.

rs1491395796 has merged into rs11344674 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT [Show Flanks]
Chromosome:: 13:72881107 (GRCh38)
13:73455245 (GRCh37)
Canonical SPDI:: NC_000013.11:72881093:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000013.11:72881093:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000013.11:72881093:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000013.11:72881093:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000013.11:72881093:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
Gene:: PIBF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000013.11:g.72881107_72881109del, NC_000013.11:g.72881108_72881109del, NC_000013.11:g.72881109del, NC_000013.11:g.72881109dup, NC_000013.11:g.72881108_72881109dup, NC_000013.10:g.73455245_73455247del, NC_000013.10:g.73455246_73455247del, NC_000013.10:g.73455247del, NC_000013.10:g.73455247dup, NC_000013.10:g.73455246_73455247dup, NG_053118.1:g.104084_104086del, NG_053118.1:g.104085_104086del, NG_053118.1:g.104086del, NG_053118.1:g.104086dup, NG_053118.1:g.104085_104086dup, NG_043334.1:g.219_221del, NG_043334.1:g.220_221del, NG_043334.1:g.221del, NG_043334.1:g.221dup, NG_043334.1:g.220_221dup

Select item 14865323082.

rs1486532308 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:72881184 (GRCh38)
13:73455322 (GRCh37)
Canonical SPDI:: NC_000013.11:72881183:A:G
Gene:: PIBF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.72881184A>G, NC_000013.10:g.73455322A>G, NG_053118.1:g.104161A>G, NG_043334.1:g.131T>C

Select item 14845643183.

rs1484564318 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAGACTCCACCAAAAAACTA>- [Show Flanks]
Chromosome:: 13:72881245 (GRCh38)
13:73455383 (GRCh37)
Canonical SPDI:: NC_000013.11:72881241:CTAAAGACTCCACCAAAAAACTA:CTA
Gene:: PIBF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CTA=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.72881245_72881264del, NC_000013.10:g.73455383_73455402del, NG_053118.1:g.104222_104241del, NG_043334.1:g.54_73del

Select item 14736238534.

rs1473623853 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:72881064 (GRCh38)
13:73455202 (GRCh37)
Canonical SPDI:: NC_000013.11:72881063:T:C
Gene:: PIBF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.72881064T>C, NC_000013.10:g.73455202T>C, NG_053118.1:g.104041T>C, NG_043334.1:g.251A>G

Select item 14601142975.

rs1460114297 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:72881056 (GRCh38)
13:73455194 (GRCh37)
Canonical SPDI:: NC_000013.11:72881055:G:A
Gene:: PIBF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
HGVS:: NC_000013.11:g.72881056G>A, NC_000013.10:g.73455194G>A, NG_053118.1:g.104033G>A, NG_043334.1:g.259C>T

Select item 14588544146.

rs1458854414 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 13:72881110 (GRCh38)
13:73455248 (GRCh37)
Canonical SPDI:: NC_000013.11:72881109:GA:
Gene:: PIBF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000013.11:g.72881110_72881111del, NC_000013.10:g.73455248_73455249del, NG_053118.1:g.104087_104088del, NG_043334.1:g.204_205del

Select item 14544040067.

rs1454404006 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTACCAAAATCAGT [Show Flanks]
Chromosome:: 13:72881302 (GRCh38)
13:73455441 (GRCh37)
Canonical SPDI:: NC_000013.11:72881302:CAAAATCAGTGTACCAAAATCAGT:CAAAATCAGTGTACCAAAATCAGTGTACCAAAATCAGT
Gene:: PIBF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CAAAATCAGTGTACCAAAATCAGTGTACCAAAATCAGT=0./0 (ALFA)
CAAAATCAGTGTAC=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.72881313_72881326dup, NC_000013.10:g.73455451_73455464dup, NG_053118.1:g.104290_104303dup, NG_043334.1:g.2_3insTGATTTTGGTAC, NG_043334.1:g.2_3insTGATTTTGGTACACTGATTTTGGTAC

Select item 14418503258.

rs1441850325 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:72881024 (GRCh38)
13:73455162 (GRCh37)
Canonical SPDI:: NC_000013.11:72881023:G:A
Gene:: PIBF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.72881024G>A, NC_000013.10:g.73455162G>A, NG_053118.1:g.104001G>A, NG_043334.1:g.291C>T

Select item 14344608299.

rs1434460829 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:72881314 (GRCh38)
13:73455452 (GRCh37)
Canonical SPDI:: NC_000013.11:72881313:T:C
Gene:: PIBF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.72881314T>C, NC_000013.10:g.73455452T>C, NG_053118.1:g.104291T>C, NG_043334.1:g.1A>G

Select item 142974247210.

rs1429742472 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:72881089 (GRCh38)
13:73455227 (GRCh37)
Canonical SPDI:: NC_000013.11:72881088:T:C
Gene:: PIBF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000013.11:g.72881089T>C, NC_000013.10:g.73455227T>C, NG_053118.1:g.104066T>C, NG_043334.1:g.226A>G

Select item 141847381211.

rs1418473812 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:72881126 (GRCh38)
13:73455264 (GRCh37)
Canonical SPDI:: NC_000013.11:72881125:A:G
Gene:: PIBF1 (Varview)
Functional Consequence:: intron_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_000013.11:g.72881126A>G, NC_000013.10:g.73455264A>G, NG_053118.1:g.104103A>G, NG_043334.1:g.189T>C

Select item 141461738012.

rs1414617380 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:72881140 (GRCh38)
13:73455278 (GRCh37)
Canonical SPDI:: NC_000013.11:72881139:C:T
Gene:: PIBF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.0002/1 (ALFA)
T=0.0002/1 (Estonian)
HGVS:: NC_000013.11:g.72881140C>T, NC_000013.10:g.73455278C>T, NG_053118.1:g.104117C>T, NG_043334.1:g.175G>A

Select item 139427393313.

rs1394273933 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:72881246 (GRCh38)
13:73455384 (GRCh37)
Canonical SPDI:: NC_000013.11:72881245:A:G
Gene:: PIBF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.72881246A>G, NC_000013.10:g.73455384A>G, NG_053118.1:g.104223A>G, NG_043334.1:g.69T>C

Select item 138901357414.

rs1389013574 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:72881268 (GRCh38)
13:73455406 (GRCh37)
Canonical SPDI:: NC_000013.11:72881267:G:A
Gene:: PIBF1 (Varview)
Functional Consequence:: intron_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_000013.11:g.72881268G>A, NC_000013.10:g.73455406G>A, NG_053118.1:g.104245G>A, NG_043334.1:g.47C>T

Select item 136871800215.

rs1368718002 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 13:72881101 (GRCh38)
13:73455239 (GRCh37)
Canonical SPDI:: NC_000013.11:72881100:T:G
Gene:: PIBF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000013.11:g.72881101T>G, NC_000013.10:g.73455239T>G, NG_053118.1:g.104078T>G, NG_043334.1:g.214A>C

Select item 134882312316.

rs1348823123 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 13:72881224 (GRCh38)
13:73455362 (GRCh37)
Canonical SPDI:: NC_000013.11:72881223:A:G,NC_000013.11:72881223:A:T
Gene:: PIBF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.72881224A>G, NC_000013.11:g.72881224A>T, NC_000013.10:g.73455362A>G, NC_000013.10:g.73455362A>T, NG_053118.1:g.104201A>G, NG_053118.1:g.104201A>T, NG_043334.1:g.91T>C, NG_043334.1:g.91T>A

Select item 134362678017.

rs1343626780 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 13:72881115 (GRCh38)
13:73455253 (GRCh37)
Canonical SPDI:: NC_000013.11:72881114:C:A,NC_000013.11:72881114:C:T
Gene:: PIBF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/2 (GnomAD)
A=0.033881/99 (KOREAN)
C=0.5/13 (SGDP_PRJ)
HGVS:: NC_000013.11:g.72881115C>A, NC_000013.11:g.72881115C>T, NC_000013.10:g.73455253C>A, NC_000013.10:g.73455253C>T, NG_053118.1:g.104092C>A, NG_053118.1:g.104092C>T, NG_043334.1:g.200G>T, NG_043334.1:g.200G>A

Select item 132147778618.

rs1321477786 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 13:72881110 (GRCh38)
13:73455248 (GRCh37)
Canonical SPDI:: NC_000013.11:72881109:G:
Gene:: PIBF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000203/24 (GnomAD)
-=0.000389/7 (TOMMO)
HGVS:: NC_000013.11:g.72881110del, NC_000013.10:g.73455248del, NG_053118.1:g.104087del, NG_043334.1:g.205del

Select item 131336226919.

rs1313362269 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 13:72881205 (GRCh38)
13:73455343 (GRCh37)
Canonical SPDI:: NC_000013.11:72881204:A:C
Gene:: PIBF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.72881205A>C, NC_000013.10:g.73455343A>C, NG_053118.1:g.104182A>C, NG_043334.1:g.110T>G

Select item 130383981020.

rs1303839810 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:72881209 (GRCh38)
13:73455347 (GRCh37)
Canonical SPDI:: NC_000013.11:72881208:G:A
Gene:: PIBF1 (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_000013.11:g.72881209G>A, NC_000013.10:g.73455347G>A, NG_053118.1:g.104186G>A, NG_043334.1:g.106C>T

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