SNP Links for Protein (Select 530423910) - SNP

Links from Protein

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Select item 14909115811.

rs1490911581 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 16:67668205 (GRCh38)
16:67702108 (GRCh37)
Canonical SPDI:: NC_000016.10:67668204:G:A,NC_000016.10:67668204:G:C,NC_000016.10:67668204:G:T
Gene:: ENKD1 (Varview), C16orf86 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000005/1 (GnomAD_exomes)
C=0.001638/3 (Korea1K)
HGVS:: NC_000016.10:g.67668205G>A, NC_000016.10:g.67668205G>C, NC_000016.10:g.67668205G>T, NC_000016.9:g.67702108G>A, NC_000016.9:g.67702108G>C, NC_000016.9:g.67702108G>T, XM_005255952.6:c.586G>A, XM_005255952.6:c.586G>C, XM_005255952.6:c.586G>T, XM_005255952.5:c.586G>A, XM_005255952.5:c.586G>C, XM_005255952.5:c.586G>T, XM_005255952.4:c.586G>A, XM_005255952.4:c.586G>C, XM_005255952.4:c.586G>T, XM_005255952.3:c.586G>A, XM_005255952.3:c.586G>C, XM_005255952.3:c.586G>T, XM_005255952.2:c.586G>A, XM_005255952.2:c.586G>C, XM_005255952.2:c.586G>T, XM_005255952.1:c.586G>A, XM_005255952.1:c.586G>C, XM_005255952.1:c.586G>T, NM_001012984.3:c.559G>A, NM_001012984.3:c.559G>C, NM_001012984.3:c.559G>T, NM_001012984.2:c.559G>A, NM_001012984.2:c.559G>C, NM_001012984.2:c.559G>T, XM_047434097.1:c.631G>A, XM_047434097.1:c.631G>C, XM_047434097.1:c.631G>T, XM_047434098.1:c.604G>A, XM_047434098.1:c.604G>C, XM_047434098.1:c.604G>T, XP_005256009.1:p.Ala196Thr, XP_005256009.1:p.Ala196Pro, XP_005256009.1:p.Ala196Ser, NP_001013002.2:p.Ala187Thr, NP_001013002.2:p.Ala187Pro, NP_001013002.2:p.Ala187Ser, XP_047290053.1:p.Ala211Thr, XP_047290053.1:p.Ala211Pro, XP_047290053.1:p.Ala211Ser, XP_047290054.1:p.Ala202Thr, XP_047290054.1:p.Ala202Pro, XP_047290054.1:p.Ala202Ser

Select item 14908958842.

rs1490895884 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:67667494 (GRCh38)
16:67701397 (GRCh37)
Canonical SPDI:: NC_000016.10:67667493:C:T
Gene:: ENKD1 (Varview), C16orf86 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000084/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.67667494C>T, NC_000016.9:g.67701397C>T, XM_005255952.6:c.301C>T, XM_005255952.5:c.301C>T, XM_005255952.4:c.301C>T, XM_005255952.3:c.301C>T, XM_005255952.2:c.301C>T, XM_005255952.1:c.301C>T, NM_001012984.3:c.301C>T, NM_001012984.2:c.301C>T, XM_047434097.1:c.-7C>T, XM_047434098.1:c.-7C>T, XP_005256009.1:p.Pro101Ser, NP_001013002.2:p.Pro101Ser

Select item 14897379923.

rs1489737992 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:67667882 (GRCh38)
16:67701785 (GRCh37)
Canonical SPDI:: NC_000016.10:67667881:C:G
Gene:: ENKD1 (Varview), C16orf86 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.67667882C>G, NC_000016.9:g.67701785C>G, XM_005255952.6:c.337C>G, XM_005255952.5:c.337C>G, XM_005255952.4:c.337C>G, XM_005255952.3:c.337C>G, XM_005255952.2:c.337C>G, XM_005255952.1:c.337C>G, NM_001012984.3:c.337C>G, NM_001012984.2:c.337C>G, XM_047434097.1:c.382C>G, XM_047434098.1:c.382C>G, XP_005256009.1:p.Leu113Val, NP_001013002.2:p.Leu113Val, XP_047290053.1:p.Leu128Val, XP_047290054.1:p.Leu128Val

Select item 14857541894.

rs1485754189 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGTGTCTGCACCCTT>- [Show Flanks]
Chromosome:: 16:67668064 (GRCh38)
16:67701967 (GRCh37)
Canonical SPDI:: NC_000016.10:67668062:TGGTGTCTGCACCCTT:T
Gene:: ENKD1 (Varview), C16orf86 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,inframe_indel,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.67668064_67668078del, NC_000016.9:g.67701967_67701981del, XM_005255952.6:c.519_533del, XM_005255952.5:c.519_533del, XM_005255952.4:c.519_533del, XM_005255952.3:c.519_533del, XM_005255952.2:c.519_533del, XM_005255952.1:c.519_533del, NM_001012984.3:c.519_533del, NM_001012984.2:c.519_533del, XM_047434097.1:c.564_578del, XM_047434098.1:c.564_578del, XP_005256009.1:p.Met173_Leu178delinsIle, NP_001013002.2:p.Met173_Leu178delinsIle, XP_047290053.1:p.Met188_Leu193delinsIle, XP_047290054.1:p.Met188_Leu193delinsIle

Select item 14829328895.

rs1482932889 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:67668033 (GRCh38)
16:67701936 (GRCh37)
Canonical SPDI:: NC_000016.10:67668032:G:A
Gene:: ENKD1 (Varview), C16orf86 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.67668033G>A, NC_000016.9:g.67701936G>A, XM_005255952.6:c.488G>A, XM_005255952.5:c.488G>A, XM_005255952.4:c.488G>A, XM_005255952.3:c.488G>A, XM_005255952.2:c.488G>A, XM_005255952.1:c.488G>A, NM_001012984.3:c.488G>A, NM_001012984.2:c.488G>A, XM_047434097.1:c.533G>A, XM_047434098.1:c.533G>A, XP_005256009.1:p.Gly163Glu, NP_001013002.2:p.Gly163Glu, XP_047290053.1:p.Gly178Glu, XP_047290054.1:p.Gly178Glu

Select item 14783163816.

rs1478316381 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:67667497 (GRCh38)
16:67701400 (GRCh37)
Canonical SPDI:: NC_000016.10:67667496:C:A,NC_000016.10:67667496:C:T
Gene:: ENKD1 (Varview), C16orf86 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000031/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.67667497C>A, NC_000016.10:g.67667497C>T, NC_000016.9:g.67701400C>A, NC_000016.9:g.67701400C>T, XM_005255952.6:c.304C>A, XM_005255952.6:c.304C>T, XM_005255952.5:c.304C>A, XM_005255952.5:c.304C>T, XM_005255952.4:c.304C>A, XM_005255952.4:c.304C>T, XM_005255952.3:c.304C>A, XM_005255952.3:c.304C>T, XM_005255952.2:c.304C>A, XM_005255952.2:c.304C>T, XM_005255952.1:c.304C>A, XM_005255952.1:c.304C>T, NM_001012984.3:c.304C>A, NM_001012984.3:c.304C>T, NM_001012984.2:c.304C>A, NM_001012984.2:c.304C>T, XM_047434097.1:c.-4C>A, XM_047434097.1:c.-4C>T, XM_047434098.1:c.-4C>A, XM_047434098.1:c.-4C>T, XP_005256009.1:p.Arg102Ser, XP_005256009.1:p.Arg102Cys, NP_001013002.2:p.Arg102Ser, NP_001013002.2:p.Arg102Cys

Select item 14769672037.

rs1476967203 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 16:67667912 (GRCh38)
16:67701815 (GRCh37)
Canonical SPDI:: NC_000016.10:67667911:A:T
Gene:: ENKD1 (Varview), C16orf86 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,stop_gained,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.67667912A>T, NC_000016.9:g.67701815A>T, XM_005255952.6:c.367A>T, XM_005255952.5:c.367A>T, XM_005255952.4:c.367A>T, XM_005255952.3:c.367A>T, XM_005255952.2:c.367A>T, XM_005255952.1:c.367A>T, NM_001012984.3:c.367A>T, NM_001012984.2:c.367A>T, XM_047434097.1:c.412A>T, XM_047434098.1:c.412A>T, XP_005256009.1:p.Lys123Ter, NP_001013002.2:p.Lys123Ter, XP_047290053.1:p.Lys138Ter, XP_047290054.1:p.Lys138Ter

Select item 14702658418.

rs1470265841 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:67668450 (GRCh38)
16:67702353 (GRCh37)
Canonical SPDI:: NC_000016.10:67668449:G:A
Gene:: ENKD1 (Varview), C16orf86 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,synonymous_variant,2KB_upstream_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_000016.10:g.67668450G>A, NC_000016.9:g.67702353G>A, XM_005255952.6:c.831G>A, XM_005255952.5:c.831G>A, XM_005255952.4:c.831G>A, XM_005255952.3:c.831G>A, XM_005255952.2:c.831G>A, XM_005255952.1:c.831G>A, NM_001012984.3:c.804G>A, NM_001012984.2:c.804G>A, XM_047434097.1:c.876G>A, XM_047434098.1:c.849G>A

Select item 14648528179.

rs1464852817 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:67668341 (GRCh38)
16:67702244 (GRCh37)
Canonical SPDI:: NC_000016.10:67668340:A:G
Gene:: ENKD1 (Varview), C16orf86 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.000142/2 (TOMMO)
HGVS:: NC_000016.10:g.67668341A>G, NC_000016.9:g.67702244A>G, XM_005255952.6:c.722A>G, XM_005255952.5:c.722A>G, XM_005255952.4:c.722A>G, XM_005255952.3:c.722A>G, XM_005255952.2:c.722A>G, XM_005255952.1:c.722A>G, NM_001012984.3:c.695A>G, NM_001012984.2:c.695A>G, XM_047434097.1:c.767A>G, XM_047434098.1:c.740A>G, XP_005256009.1:p.Glu241Gly, NP_001013002.2:p.Glu232Gly, XP_047290053.1:p.Glu256Gly, XP_047290054.1:p.Glu247Gly

Select item 146363672310.

rs1463636723 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:67668558 (GRCh38)
16:67702461 (GRCh37)
Canonical SPDI:: NC_000016.10:67668557:C:T
Gene:: ENKD1 (Varview), C16orf86 (Varview)
Functional Consequence:: upstream_transcript_variant,synonymous_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.67668558C>T, NC_000016.9:g.67702461C>T, XM_005255952.6:c.939C>T, XM_005255952.5:c.939C>T, XM_005255952.4:c.939C>T, XM_005255952.3:c.939C>T, XM_005255952.2:c.939C>T, XM_005255952.1:c.939C>T, NM_001012984.3:c.912C>T, NM_001012984.2:c.912C>T, XM_047434097.1:c.984C>T, XM_047434098.1:c.957C>T

Select item 146231246511.

rs1462312465 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 16:67668369 (GRCh38)
16:67702272 (GRCh37)
Canonical SPDI:: NC_000016.10:67668368:A:C
Gene:: ENKD1 (Varview), C16orf86 (Varview)
Functional Consequence:: upstream_transcript_variant,synonymous_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.67668369A>C, NC_000016.9:g.67702272A>C, XM_005255952.6:c.750A>C, XM_005255952.5:c.750A>C, XM_005255952.4:c.750A>C, XM_005255952.3:c.750A>C, XM_005255952.2:c.750A>C, XM_005255952.1:c.750A>C, NM_001012984.3:c.723A>C, NM_001012984.2:c.723A>C, XM_047434097.1:c.795A>C, XM_047434098.1:c.768A>C

Select item 146079938812.

rs1460799388 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:67667428 (GRCh38)
16:67701331 (GRCh37)
Canonical SPDI:: NC_000016.10:67667427:C:A,NC_000016.10:67667427:C:T
Gene:: ENKD1 (Varview), C16orf86 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,synonymous_variant,5_prime_UTR_variant,missense_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_000016.10:g.67667428C>A, NC_000016.10:g.67667428C>T, NC_000016.9:g.67701331C>A, NC_000016.9:g.67701331C>T, XM_005255952.6:c.235C>A, XM_005255952.6:c.235C>T, XM_005255952.5:c.235C>A, XM_005255952.5:c.235C>T, XM_005255952.4:c.235C>A, XM_005255952.4:c.235C>T, XM_005255952.3:c.235C>A, XM_005255952.3:c.235C>T, XM_005255952.2:c.235C>A, XM_005255952.2:c.235C>T, XM_005255952.1:c.235C>A, XM_005255952.1:c.235C>T, NM_001012984.3:c.235C>A, NM_001012984.3:c.235C>T, NM_001012984.2:c.235C>A, NM_001012984.2:c.235C>T, XM_047434097.1:c.-73C>A, XM_047434097.1:c.-73C>T, XM_047434098.1:c.-73C>A, XM_047434098.1:c.-73C>T, XP_005256009.1:p.Arg79Trp, NP_001013002.2:p.Arg79Trp

Select item 145696468513.

rs1456964685 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:67668350 (GRCh38)
16:67702253 (GRCh37)
Canonical SPDI:: NC_000016.10:67668349:A:G
Gene:: ENKD1 (Varview), C16orf86 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.67668350A>G, NC_000016.9:g.67702253A>G, XM_005255952.6:c.731A>G, XM_005255952.5:c.731A>G, XM_005255952.4:c.731A>G, XM_005255952.3:c.731A>G, XM_005255952.2:c.731A>G, XM_005255952.1:c.731A>G, NM_001012984.3:c.704A>G, NM_001012984.2:c.704A>G, XM_047434097.1:c.776A>G, XM_047434098.1:c.749A>G, XP_005256009.1:p.Gln244Arg, NP_001013002.2:p.Gln235Arg, XP_047290053.1:p.Gln259Arg, XP_047290054.1:p.Gln250Arg

Select item 145258608214.

rs1452586082 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 16:67666990 (GRCh38)
16:67700894 (GRCh37)
Canonical SPDI:: NC_000016.10:67666990:G:GG
Gene:: ENKD1 (Varview), C16orf86 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,frameshift_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.00005/7 (GnomAD)
G=0.000162/43 (TOPMED)
HGVS:: NC_000016.10:g.67666991dup, NC_000016.9:g.67700894dup, XM_005255952.6:c.21dup, XM_005255952.5:c.21dup, XM_005255952.4:c.21dup, XM_005255952.3:c.21dup, XM_005255952.2:c.21dup, XM_005255952.1:c.21dup, NM_001012984.3:c.21dup, NM_001012984.2:c.21dup, XM_047434097.1:c.-510dup, XM_047434098.1:c.-510dup, XP_005256009.1:p.Arg8fs, NP_001013002.2:p.Arg8fs

Select item 145144536315.

rs1451445363 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:67667331 (GRCh38)
16:67701234 (GRCh37)
Canonical SPDI:: NC_000016.10:67667330:C:G
Gene:: ENKD1 (Varview), C16orf86 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,synonymous_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.67667331C>G, NC_000016.9:g.67701234C>G, XM_005255952.6:c.138C>G, XM_005255952.5:c.138C>G, XM_005255952.4:c.138C>G, XM_005255952.3:c.138C>G, XM_005255952.2:c.138C>G, XM_005255952.1:c.138C>G, NM_001012984.3:c.138C>G, NM_001012984.2:c.138C>G, XM_047434097.1:c.-170C>G, XM_047434098.1:c.-170C>G

Select item 144659062416.

rs1446590624 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:67668058 (GRCh38)
16:67701961 (GRCh37)
Canonical SPDI:: NC_000016.10:67668057:C:T
Gene:: ENKD1 (Varview), C16orf86 (Varview)
Functional Consequence:: upstream_transcript_variant,synonymous_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.67668058C>T, NC_000016.9:g.67701961C>T, XM_005255952.6:c.513C>T, XM_005255952.5:c.513C>T, XM_005255952.4:c.513C>T, XM_005255952.3:c.513C>T, XM_005255952.2:c.513C>T, XM_005255952.1:c.513C>T, NM_001012984.3:c.513C>T, NM_001012984.2:c.513C>T, XM_047434097.1:c.558C>T, XM_047434098.1:c.558C>T

Select item 144520135317.

rs1445201353 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCAG>- [Show Flanks]
Chromosome:: 16:67667971 (GRCh38)
16:67701874 (GRCh37)
Canonical SPDI:: NC_000016.10:67667967:CAGCCAG:CAG
Gene:: ENKD1 (Varview), C16orf86 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.67667971_67667974del, NC_000016.9:g.67701874_67701877del, XM_005255952.6:c.426_429del, XM_005255952.5:c.426_429del, XM_005255952.4:c.426_429del, XM_005255952.3:c.426_429del, XM_005255952.2:c.426_429del, XM_005255952.1:c.426_429del, NM_001012984.3:c.426_429del, NM_001012984.2:c.426_429del, XM_047434097.1:c.471_474del, XM_047434098.1:c.471_474del, XP_005256009.1:p.Ser142fs, NP_001013002.2:p.Ser142fs, XP_047290053.1:p.Ser157fs, XP_047290054.1:p.Ser157fs

Select item 144396281618.

rs1443962816 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:67667349 (GRCh38)
16:67701252 (GRCh37)
Canonical SPDI:: NC_000016.10:67667348:C:A,NC_000016.10:67667348:C:T
Gene:: ENKD1 (Varview), C16orf86 (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
HGVS:: NC_000016.10:g.67667349C>A, NC_000016.10:g.67667349C>T, NC_000016.9:g.67701252C>A, NC_000016.9:g.67701252C>T, XM_005255952.6:c.156C>A, XM_005255952.6:c.156C>T, XM_005255952.5:c.156C>A, XM_005255952.5:c.156C>T, XM_005255952.4:c.156C>A, XM_005255952.4:c.156C>T, XM_005255952.3:c.156C>A, XM_005255952.3:c.156C>T, XM_005255952.2:c.156C>A, XM_005255952.2:c.156C>T, XM_005255952.1:c.156C>A, XM_005255952.1:c.156C>T, NM_001012984.3:c.156C>A, NM_001012984.3:c.156C>T, NM_001012984.2:c.156C>A, NM_001012984.2:c.156C>T, XM_047434097.1:c.-152C>A, XM_047434097.1:c.-152C>T, XM_047434098.1:c.-152C>A, XM_047434098.1:c.-152C>T

Select item 143933054519.

rs1439330545 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGAGGCCCCAGGCCCGTGGTCTCCATTG>- [Show Flanks]
Chromosome:: 16:67667461 (GRCh38)
16:67701364 (GRCh37)
Canonical SPDI:: NC_000016.10:67667459:GAGAGGCCCCAGGCCCGTGGTCTCCATTG:G
Gene:: ENKD1 (Varview), C16orf86 (Varview)
Functional Consequence:: 5_prime_UTR_variant,stop_gained,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.67667461_67667488del, NC_000016.9:g.67701364_67701391del, XM_005255952.6:c.268_295del, XM_005255952.5:c.268_295del, XM_005255952.4:c.268_295del, XM_005255952.3:c.268_295del, XM_005255952.2:c.268_295del, XM_005255952.1:c.268_295del, NM_001012984.3:c.268_295del, NM_001012984.2:c.268_295del, XM_047434097.1:c.-40_-13del, XM_047434098.1:c.-40_-13del, XP_005256009.1:p.Glu89_Arg90insTer, NP_001013002.2:p.Glu89_Arg90insTer

Select item 143805831620.

rs1438058316 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:67668440 (GRCh38)
16:67702343 (GRCh37)
Canonical SPDI:: NC_000016.10:67668439:C:T
Gene:: ENKD1 (Varview), C16orf86 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000016.10:g.67668440C>T, NC_000016.9:g.67702343C>T, XM_005255952.6:c.821C>T, XM_005255952.5:c.821C>T, XM_005255952.4:c.821C>T, XM_005255952.3:c.821C>T, XM_005255952.2:c.821C>T, XM_005255952.1:c.821C>T, NM_001012984.3:c.794C>T, NM_001012984.2:c.794C>T, XM_047434097.1:c.866C>T, XM_047434098.1:c.839C>T, XP_005256009.1:p.Pro274Leu, NP_001013002.2:p.Pro265Leu, XP_047290053.1:p.Pro289Leu, XP_047290054.1:p.Pro280Leu

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