SNP Links for Nucleotide (Select 83582799) - SNP

Links from Nucleotide

Items: 1 to 20 of 146

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Select item 14899163991.

rs1489916399 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 20:31308552 (GRCh38)
20:29896355 (GRCh37)
Canonical SPDI:: NC_000020.11:31308551:C:A,NC_000020.11:31308551:C:T
Gene:: DEFB116 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.31308552C>A, NC_000020.11:g.31308552C>T, NC_000020.10:g.29896355C>A, NC_000020.10:g.29896355C>T, NM_001037731.1:c.34G>T, NM_001037731.1:c.34G>A, NP_001032820.1:p.Ala12Ser, NP_001032820.1:p.Ala12Thr

Select item 14850808562.

rs1485080856 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:31303227 (GRCh38)
20:29891030 (GRCh37)
Canonical SPDI:: NC_000020.11:31303226:G:A
Gene:: DEFB116 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000020.11:g.31303227G>A, NC_000020.10:g.29891030G>A, NM_001037731.1:c.294C>T

Select item 14755293833.

rs1475529383 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:31303240 (GRCh38)
20:29891043 (GRCh37)
Canonical SPDI:: NC_000020.11:31303239:G:T
Gene:: DEFB116 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.31303240G>T, NC_000020.10:g.29891043G>T, NM_001037731.1:c.281C>A, NP_001032820.1:p.Thr94Lys

Select item 14698947874.

rs1469894787 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 20:31308557 (GRCh38)
20:29896360 (GRCh37)
Canonical SPDI:: NC_000020.11:31308556:G:A,NC_000020.11:31308556:G:T
Gene:: DEFB116 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.31308557G>A, NC_000020.11:g.31308557G>T, NC_000020.10:g.29896360G>A, NC_000020.10:g.29896360G>T, NM_001037731.1:c.29C>T, NM_001037731.1:c.29C>A, NP_001032820.1:p.Thr10Ile, NP_001032820.1:p.Thr10Asn

Select item 14608044085.

rs1460804408 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:31303420 (GRCh38)
20:29891223 (GRCh37)
Canonical SPDI:: NC_000020.11:31303419:C:T
Gene:: DEFB116 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.31303420C>T, NC_000020.10:g.29891223C>T, NM_001037731.1:c.101G>A, NP_001032820.1:p.Arg34Gln

Select item 14515325106.

rs1451532510 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:31303321 (GRCh38)
20:29891124 (GRCh37)
Canonical SPDI:: NC_000020.11:31303320:C:T
Gene:: DEFB116 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000020.11:g.31303321C>T, NC_000020.10:g.29891124C>T, NM_001037731.1:c.200G>A, NP_001032820.1:p.Cys67Tyr

Select item 14459452477.

rs1445945247 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 20:31303228 (GRCh38)
20:29891031 (GRCh37)
Canonical SPDI:: NC_000020.11:31303227:C:
Gene:: DEFB116 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.31303228del, NC_000020.10:g.29891031del, NM_001037731.1:c.293del, NP_001032820.1:p.Ser98fs

Select item 14399715358.

rs1439971535 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 20:31303450 (GRCh38)
20:29891253 (GRCh37)
Canonical SPDI:: NC_000020.11:31303449:C:A
Gene:: DEFB116 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.31303450C>A, NC_000020.10:g.29891253C>A, NM_001037731.1:c.71G>T, NP_001032820.1:p.Gly24Val

Select item 14255293669.

rs1425529366 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:31303378 (GRCh38)
20:29891181 (GRCh37)
Canonical SPDI:: NC_000020.11:31303377:C:T
Gene:: DEFB116 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.31303378C>T, NC_000020.10:g.29891181C>T, NM_001037731.1:c.143G>A, NP_001032820.1:p.Arg48Lys

Select item 142519443210.

rs1425194432 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:31303349 (GRCh38)
20:29891152 (GRCh37)
Canonical SPDI:: NC_000020.11:31303348:A:G
Gene:: DEFB116 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.00007/1 (ALFA)
HGVS:: NC_000020.11:g.31303349A>G, NC_000020.10:g.29891152A>G, NM_001037731.1:c.172T>C, NP_001032820.1:p.Tyr58His

Select item 142441181311.

rs1424411813 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:31303429 (GRCh38)
20:29891232 (GRCh37)
Canonical SPDI:: NC_000020.11:31303428:C:T
Gene:: DEFB116 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000020.11:g.31303429C>T, NC_000020.10:g.29891232C>T, NM_001037731.1:c.92G>A, NP_001032820.1:p.Gly31Asp

Select item 142093345112.

rs1420933451 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:31308527 (GRCh38)
20:29896330 (GRCh37)
Canonical SPDI:: NC_000020.11:31308526:T:C
Gene:: DEFB116 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.31308527T>C, NC_000020.10:g.29896330T>C, NM_001037731.1:c.59A>G, NP_001032820.1:p.Lys20Arg

Select item 142037095313.

rs1420370953 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:31303334 (GRCh38)
20:29891137 (GRCh37)
Canonical SPDI:: NC_000020.11:31303333:T:C
Gene:: DEFB116 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.0002/1 (ALFA)
C=0.0002/1 (Estonian)
HGVS:: NC_000020.11:g.31303334T>C, NC_000020.10:g.29891137T>C, NM_001037731.1:c.187A>G, NP_001032820.1:p.Asn63Asp

Select item 141953202614.

rs1419532026 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 20:31303308 (GRCh38)
20:29891111 (GRCh37)
Canonical SPDI:: NC_000020.11:31303306:AAA:A
Gene:: DEFB116 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.31303308_31303309del, NC_000020.10:g.29891111_29891112del, NM_001037731.1:c.213_214del, NP_001032820.1:p.Ser72fs

Select item 141899678815.

rs1418996788 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:31308520 (GRCh38)
20:29896323 (GRCh37)
Canonical SPDI:: NC_000020.11:31308519:T:C
Gene:: DEFB116 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000020.11:g.31308520T>C, NC_000020.10:g.29896323T>C, NM_001037731.1:c.66A>G

Select item 141421489016.

rs1414214890 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 20:31303263 (GRCh38)
20:29891066 (GRCh37)
Canonical SPDI:: NC_000020.11:31303262:G:A,NC_000020.11:31303262:G:C
Gene:: DEFB116 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.31303263G>A, NC_000020.11:g.31303263G>C, NC_000020.10:g.29891066G>A, NC_000020.10:g.29891066G>C, NM_001037731.1:c.258C>T, NM_001037731.1:c.258C>G, NP_001032820.1:p.Asp86Glu

Select item 138438366817.

rs1384383668 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 20:31303449 (GRCh38)
20:29891252 (GRCh37)
Canonical SPDI:: NC_000020.11:31303448:G:A,NC_000020.11:31303448:G:T
Gene:: DEFB116 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.31303449G>A, NC_000020.11:g.31303449G>T, NC_000020.10:g.29891252G>A, NC_000020.10:g.29891252G>T, NM_001037731.1:c.72C>T, NM_001037731.1:c.72C>A

Select item 138361292418.

rs1383612924 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:31308584 (GRCh38)
20:29896387 (GRCh37)
Canonical SPDI:: NC_000020.11:31308583:A:G
Gene:: DEFB116 (Varview)
Functional Consequence:: initiator_codon_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000031/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.31308584A>G, NC_000020.10:g.29896387A>G, NM_001037731.1:c.2T>C, NP_001032820.1:p.Met1Thr

Select item 136830186919.

rs1368301869 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:31308536 (GRCh38)
20:29896339 (GRCh37)
Canonical SPDI:: NC_000020.11:31308535:A:G
Gene:: DEFB116 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000020.11:g.31308536A>G, NC_000020.10:g.29896339A>G, NM_001037731.1:c.50T>C, NP_001032820.1:p.Leu17Pro

Select item 135382924820.

rs1353829248 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:31303348 (GRCh38)
20:29891151 (GRCh37)
Canonical SPDI:: NC_000020.11:31303347:T:C
Gene:: DEFB116 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.31303348T>C, NC_000020.10:g.29891151T>C, NM_001037731.1:c.173A>G, NP_001032820.1:p.Tyr58Cys

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