SNP Links for Protein (Select 194440719) - SNP

Links from Protein

Items: 1 to 20 of 817

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Select item 14908700861.

rs1490870086 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 22:41238686 (GRCh38)
22:41634690 (GRCh37)
Canonical SPDI:: NC_000022.11:41238685:G:A,NC_000022.11:41238685:G:C,NC_000022.11:41238685:G:T
Gene:: CHADL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
A=0.000014/2 (GnomAD_exomes)
C=0.000156/1 (1000Genomes)
A=0.000248/4 (TOMMO)
HGVS:: NC_000022.11:g.41238686G>A, NC_000022.11:g.41238686G>C, NC_000022.11:g.41238686G>T, NC_000022.10:g.41634690G>A, NC_000022.10:g.41634690G>C, NC_000022.10:g.41634690G>T, NM_138481.2:c.386C>T, NM_138481.2:c.386C>G, NM_138481.2:c.386C>A, NM_138481.1:c.386C>T, NM_138481.1:c.386C>G, NM_138481.1:c.386C>A, NP_612490.1:p.Ala129Val, NP_612490.1:p.Ala129Gly, NP_612490.1:p.Ala129Glu

Select item 14903786282.

rs1490378628 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 22:41239465 (GRCh38)
22:41635469 (GRCh37)
Canonical SPDI:: NC_000022.11:41239464:T:G
Gene:: CHADL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.41239465T>G, NC_000022.10:g.41635469T>G, NM_138481.2:c.164A>C, NM_138481.1:c.164A>C, NP_612490.1:p.Glu55Ala

Select item 14900490943.

rs1490049094 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAGGGCCTCGGGGGCCAGC>- [Show Flanks]
Chromosome:: 22:41238466 (GRCh38)
22:41634470 (GRCh37)
Canonical SPDI:: NC_000022.11:41238458:GGCCAGCCAGGGCCTCGGGGGCCAGC:GGCCAGC
Gene:: CHADL (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGCCAGC=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/1 (GnomAD_exomes)
-=0.000011/3 (TOPMED)
HGVS:: NC_000022.11:g.41238466_41238484del, NC_000022.10:g.41634470_41634488del, NM_138481.2:c.595_613del, NM_138481.1:c.595_613del, NP_612490.1:p.Pro199fs

Select item 14890382504.

rs1489038250 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 22:41237596 (GRCh38)
22:41633600 (GRCh37)
Canonical SPDI:: NC_000022.11:41237595:G:A,NC_000022.11:41237595:G:C
Gene:: CHADL (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000051/1 (ALFA)
C=0.000004/1 (TOPMED)
A=0.000013/2 (GnomAD_exomes)
HGVS:: NC_000022.11:g.41237596G>A, NC_000022.11:g.41237596G>C, NC_000022.10:g.41633600G>A, NC_000022.10:g.41633600G>C, NM_138481.2:c.1476C>T, NM_138481.2:c.1476C>G, NM_138481.1:c.1476C>T, NM_138481.1:c.1476C>G

Select item 14888872965.

rs1488887296 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:41238758 (GRCh38)
22:41634762 (GRCh37)
Canonical SPDI:: NC_000022.11:41238757:G:A
Gene:: CHADL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD_exomes)
HGVS:: NC_000022.11:g.41238758G>A, NC_000022.10:g.41634762G>A, NM_138481.2:c.314C>T, NM_138481.1:c.314C>T, NP_612490.1:p.Ala105Val

Select item 14886704166.

rs1488670416 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 22:41238114 (GRCh38)
22:41634118 (GRCh37)
Canonical SPDI:: NC_000022.11:41238113:G:T
Gene:: CHADL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000022.11:g.41238114G>T, NC_000022.10:g.41634118G>T, NM_138481.2:c.958C>A, NM_138481.1:c.958C>A, NP_612490.1:p.Pro320Thr

Select item 14880915967.

rs1488091596 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:41235236 (GRCh38)
22:41631240 (GRCh37)
Canonical SPDI:: NC_000022.11:41235235:C:T
Gene:: CHADL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000022.11:g.41235236C>T, NC_000022.10:g.41631240C>T, NM_138481.2:c.2171G>A, NM_138481.1:c.2171G>A, NP_612490.1:p.Gly724Asp

Select item 14873093648.

rs1487309364 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 22:41237889 (GRCh38)
22:41633893 (GRCh37)
Canonical SPDI:: NC_000022.11:41237888:G:A,NC_000022.11:41237888:G:T
Gene:: CHADL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000022.11:g.41237889G>A, NC_000022.11:g.41237889G>T, NC_000022.10:g.41633893G>A, NC_000022.10:g.41633893G>T, NM_138481.2:c.1183C>T, NM_138481.2:c.1183C>A, NM_138481.1:c.1183C>T, NM_138481.1:c.1183C>A, NP_612490.1:p.Pro395Ser, NP_612490.1:p.Pro395Thr

Select item 14871006579.

rs1487100657 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:41236563 (GRCh38)
22:41632567 (GRCh37)
Canonical SPDI:: NC_000022.11:41236562:G:A
Gene:: CHADL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000022.11:g.41236563G>A, NC_000022.10:g.41632567G>A, NM_138481.2:c.1984C>T, NM_138481.1:c.1984C>T, NP_612490.1:p.Pro662Ser

Select item 148483725710.

rs1484837257 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:41238514 (GRCh38)
22:41634518 (GRCh37)
Canonical SPDI:: NC_000022.11:41238513:C:T
Gene:: CHADL (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
HGVS:: NC_000022.11:g.41238514C>T, NC_000022.10:g.41634518C>T, NM_138481.2:c.558G>A, NM_138481.1:c.558G>A, NP_612490.1:p.Trp186Ter

Select item 148419250111.

rs1484192501 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:41237775 (GRCh38)
22:41633779 (GRCh37)
Canonical SPDI:: NC_000022.11:41237774:T:C
Gene:: CHADL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000015/2 (GnomAD_exomes)
HGVS:: NC_000022.11:g.41237775T>C, NC_000022.10:g.41633779T>C, NM_138481.2:c.1297A>G, NM_138481.1:c.1297A>G, NP_612490.1:p.Arg433Gly

Select item 148407963012.

rs1484079630 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 22:41238570 (GRCh38)
22:41634574 (GRCh37)
Canonical SPDI:: NC_000022.11:41238569:T:A,NC_000022.11:41238569:T:C
Gene:: CHADL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD_exomes)
HGVS:: NC_000022.11:g.41238570T>A, NC_000022.11:g.41238570T>C, NC_000022.10:g.41634574T>A, NC_000022.10:g.41634574T>C, NM_138481.2:c.502A>T, NM_138481.2:c.502A>G, NM_138481.1:c.502A>T, NM_138481.1:c.502A>G, NP_612490.1:p.Asn168Tyr, NP_612490.1:p.Asn168Asp

Select item 148339039513.

rs1483390395 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 22:41239559 (GRCh38)
22:41635563 (GRCh37)
Canonical SPDI:: NC_000022.11:41239558:G:T
Gene:: CHADL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000043/6 (GnomAD)
HGVS:: NC_000022.11:g.41239559G>T, NC_000022.10:g.41635563G>T, NM_138481.2:c.70C>A, NM_138481.1:c.70C>A, NP_612490.1:p.Pro24Thr

Select item 148335760614.

rs1483357606 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 22:41238763 (GRCh38)
22:41634767 (GRCh37)
Canonical SPDI:: NC_000022.11:41238762:C:G
Gene:: CHADL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.41238763C>G, NC_000022.10:g.41634767C>G, NM_138481.2:c.309G>C, NM_138481.1:c.309G>C, NP_612490.1:p.Glu103Asp

Select item 147966506515.

rs1479665065 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:41238633 (GRCh38)
22:41634637 (GRCh37)
Canonical SPDI:: NC_000022.11:41238632:C:T
Gene:: CHADL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.41238633C>T, NC_000022.10:g.41634637C>T, NM_138481.2:c.439G>A, NM_138481.1:c.439G>A, NP_612490.1:p.Glu147Lys

Select item 147912781816.

rs1479127818 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:41237176 (GRCh38)
22:41633180 (GRCh37)
Canonical SPDI:: NC_000022.11:41237175:C:T
Gene:: CHADL (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.41237176C>T, NC_000022.10:g.41633180C>T, NM_138481.2:c.1896G>A, NM_138481.1:c.1896G>A

Select item 147846998217.

rs1478469982 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:41238697 (GRCh38)
22:41634701 (GRCh37)
Canonical SPDI:: NC_000022.11:41238696:C:T
Gene:: CHADL (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000022.11:g.41238697C>T, NC_000022.10:g.41634701C>T, NM_138481.2:c.375G>A, NM_138481.1:c.375G>A

Select item 147841839018.

rs1478418390 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 22:41238001 (GRCh38)
22:41634005 (GRCh37)
Canonical SPDI:: NC_000022.11:41238000:G:A,NC_000022.11:41238000:G:T
Gene:: CHADL (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.41238001G>A, NC_000022.11:g.41238001G>T, NC_000022.10:g.41634005G>A, NC_000022.10:g.41634005G>T, NM_138481.2:c.1071C>T, NM_138481.2:c.1071C>A, NM_138481.1:c.1071C>T, NM_138481.1:c.1071C>A, NP_612490.1:p.Cys357Ter

Select item 147799857119.

rs1477998571 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:41236531 (GRCh38)
22:41632535 (GRCh37)
Canonical SPDI:: NC_000022.11:41236530:G:A
Gene:: CHADL (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000022.11:g.41236531G>A, NC_000022.10:g.41632535G>A, NM_138481.2:c.2016C>T, NM_138481.1:c.2016C>T

Select item 147793863620.

rs1477938636 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:41237473 (GRCh38)
22:41633477 (GRCh37)
Canonical SPDI:: NC_000022.11:41237472:C:T
Gene:: CHADL (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000022.11:g.41237473C>T, NC_000022.10:g.41633477C>T, NM_138481.2:c.1599G>A, NM_138481.1:c.1599G>A

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