SNP Links for Protein (Select 10334861) - SNP

Links from Protein

Items: 1 to 20 of 281

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Select item 14849107061.

rs1484910706 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 17:63872287 (GRCh38)
17:61949647 (GRCh37)
Canonical SPDI:: NC_000017.11:63872286:GG:G
Gene:: CSH2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
HGVS:: NC_000017.11:g.63872288del, NC_000017.10:g.61949648del, NM_020991.4:c.493del, NM_020991.3:c.493del, NM_022644.3:c.*242del, NM_022645.2:c.208del, NM_022646.2:c.47del, NM_022646.1:c.47del, NP_066271.1:p.Leu165fs, NP_072171.1:p.Leu70fs

Select item 14818189122.

rs1481818912 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:63873309 (GRCh38)
17:61950669 (GRCh37)
Canonical SPDI:: NC_000017.11:63873308:G:A,NC_000017.11:63873308:G:C
Gene:: CSH2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.001592/26 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000143/20 (GnomAD)
HGVS:: NC_000017.11:g.63873309G>A, NC_000017.11:g.63873309G>C, NC_000017.10:g.61950669G>A, NC_000017.10:g.61950669G>C, NM_020991.4:c.41C>T, NM_020991.4:c.41C>G, NM_020991.3:c.41C>T, NM_020991.3:c.41C>G, NM_022644.3:c.41C>T, NM_022644.3:c.41C>G, NM_022645.2:c.41C>T, NM_022645.2:c.41C>G, NP_066271.1:p.Ala14Val, NP_066271.1:p.Ala14Gly, NP_072170.1:p.Ala14Val, NP_072170.1:p.Ala14Gly, NP_072171.1:p.Ala14Val, NP_072171.1:p.Ala14Gly

Select item 14811051483.

rs1481105148 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:63872143 (GRCh38)
17:61949503 (GRCh37)
Canonical SPDI:: NC_000017.11:63872142:C:T
Gene:: CSH2 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00003/8 (TOPMED)
HGVS:: NC_000017.11:g.63872143C>T, NC_000017.10:g.61949503C>T, NM_020991.4:c.637G>A, NM_020991.3:c.637G>A, NM_022644.3:c.*386G>A, NM_022645.2:c.352G>A, NM_022646.2:c.*119G>A, NM_022646.1:c.*119G>A, NP_066271.1:p.Gly213Ser, NP_072171.1:p.Gly118Ser

Select item 14687530824.

rs1468753082 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:63872895 (GRCh38)
17:61950255 (GRCh37)
Canonical SPDI:: NC_000017.11:63872894:G:A
Gene:: CSH2 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00007/1 (ALFA)
A=0.00001/1 (GnomAD)
A=0.00002/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.63872895G>A, NC_000017.10:g.61950255G>A, NM_020991.4:c.231C>T, NM_020991.3:c.231C>T, NM_022644.3:c.231C>T

Select item 14683433475.

rs1468343347 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:63872610 (GRCh38)
17:61949970 (GRCh37)
Canonical SPDI:: NC_000017.11:63872609:C:A,NC_000017.11:63872609:C:T
Gene:: CSH2 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,missense_variant,coding_sequence_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_000017.11:g.63872610C>A, NC_000017.11:g.63872610C>T, NC_000017.10:g.61949970C>A, NC_000017.10:g.61949970C>T, NM_020991.4:c.423G>T, NM_020991.4:c.423G>A, NM_020991.3:c.423G>T, NM_020991.3:c.423G>A, NM_022644.3:c.423G>T, NM_022644.3:c.423G>A, NP_066271.1:p.Lys141Asn, NP_072170.1:p.Lys141Asn

Select item 14543134796.

rs1454313479 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:63872265 (GRCh38)
17:61949625 (GRCh37)
Canonical SPDI:: NC_000017.11:63872264:A:G
Gene:: CSH2 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.63872265A>G, NC_000017.10:g.61949625A>G, NM_020991.4:c.515T>C, NM_020991.3:c.515T>C, NM_022644.3:c.*264T>C, NM_022645.2:c.230T>C, NM_022646.2:c.69T>C, NM_022646.1:c.69T>C, NP_066271.1:p.Phe172Ser, NP_072171.1:p.Phe77Ser

Select item 14536825167.

rs1453682516 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:63873338 (GRCh38)
17:61950698 (GRCh37)
Canonical SPDI:: NC_000017.11:63873337:G:A,NC_000017.11:63873337:G:T
Gene:: CSH2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000051/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000106/2 (TOMMO)
HGVS:: NC_000017.11:g.63873338G>A, NC_000017.11:g.63873338G>T, NC_000017.10:g.61950698G>A, NC_000017.10:g.61950698G>T, NM_020991.4:c.12C>T, NM_020991.4:c.12C>A, NM_020991.3:c.12C>T, NM_020991.3:c.12C>A, NM_022644.3:c.12C>T, NM_022644.3:c.12C>A, NM_022645.2:c.12C>T, NM_022645.2:c.12C>A

Select item 14530265558.

rs1453026555 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:63872221 (GRCh38)
17:61949581 (GRCh37)
Canonical SPDI:: NC_000017.11:63872220:C:T
Gene:: CSH2 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000017.11:g.63872221C>T, NC_000017.10:g.61949581C>T, NM_020991.4:c.559G>A, NM_020991.3:c.559G>A, NM_022644.3:c.*308G>A, NM_022645.2:c.274G>A, NM_022646.2:c.*41G>A, NM_022646.1:c.*41G>A, NP_066271.1:p.Gly187Arg, NP_072171.1:p.Gly92Arg

Select item 14512415599.

rs1451241559 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:63872858 (GRCh38)
17:61950218 (GRCh37)
Canonical SPDI:: NC_000017.11:63872857:T:C
Gene:: CSH2 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000015/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.63872858T>C, NC_000017.10:g.61950218T>C, NM_020991.4:c.268A>G, NM_020991.3:c.268A>G, NM_022644.3:c.268A>G, NP_066271.1:p.Met90Val, NP_072170.1:p.Met90Val

Select item 144688112910.

rs1446881129 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 17:63873217 (GRCh38)
17:61950577 (GRCh37)
Canonical SPDI:: NC_000017.11:63873216:G:A,NC_000017.11:63873216:G:C,NC_000017.11:63873216:G:T
Gene:: CSH2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
C=0.000035/1 (TOMMO)
A=0.000342/1 (KOREAN)
HGVS:: NC_000017.11:g.63873217G>A, NC_000017.11:g.63873217G>C, NC_000017.11:g.63873217G>T, NC_000017.10:g.61950577G>A, NC_000017.10:g.61950577G>C, NC_000017.10:g.61950577G>T, NM_020991.4:c.133C>T, NM_020991.4:c.133C>G, NM_020991.4:c.133C>A, NM_020991.3:c.133C>T, NM_020991.3:c.133C>G, NM_020991.3:c.133C>A, NM_022644.3:c.133C>T, NM_022644.3:c.133C>G, NM_022644.3:c.133C>A, NM_022645.2:c.133C>T, NM_022645.2:c.133C>G, NM_022645.2:c.133C>A, NP_066271.1:p.Arg45Cys, NP_066271.1:p.Arg45Gly, NP_066271.1:p.Arg45Ser, NP_072170.1:p.Arg45Cys, NP_072170.1:p.Arg45Gly, NP_072170.1:p.Arg45Ser, NP_072171.1:p.Arg45Cys, NP_072171.1:p.Arg45Gly, NP_072171.1:p.Arg45Ser

Select item 144491018311.

rs1444910183 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:63873322 (GRCh38)
17:61950682 (GRCh37)
Canonical SPDI:: NC_000017.11:63873321:G:A
Gene:: CSH2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.63873322G>A, NC_000017.10:g.61950682G>A, NM_020991.4:c.28C>T, NM_020991.3:c.28C>T, NM_022644.3:c.28C>T, NM_022645.2:c.28C>T, NP_066271.1:p.Leu10Phe, NP_072170.1:p.Leu10Phe, NP_072171.1:p.Leu10Phe

Select item 143997203412.

rs1439972034 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:63872662 (GRCh38)
17:61950022 (GRCh37)
Canonical SPDI:: NC_000017.11:63872661:G:C
Gene:: CSH2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.63872662G>C, NC_000017.10:g.61950022G>C, NM_020991.4:c.371C>G, NM_020991.3:c.371C>G, NM_022644.3:c.371C>G, NP_066271.1:p.Ala124Gly, NP_072170.1:p.Ala124Gly

Select item 143845487713.

rs1438454877 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 17:63872690 (GRCh38)
17:61950051 (GRCh37)
Canonical SPDI:: NC_000017.11:63872690:C:CC
Gene:: CSH2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
HGVS:: NC_000017.11:g.63872691dup, NC_000017.10:g.61950051dup, NM_020991.4:c.342dup, NM_020991.3:c.342dup, NM_022644.3:c.342dup, NP_066271.1:p.Pro115fs, NP_072170.1:p.Pro115fs

Select item 143721666114.

rs1437216661 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:63872296 (GRCh38)
17:61949656 (GRCh37)
Canonical SPDI:: NC_000017.11:63872295:C:G,NC_000017.11:63872295:C:T
Gene:: CSH2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.63872296C>G, NC_000017.11:g.63872296C>T, NC_000017.10:g.61949656C>G, NC_000017.10:g.61949656C>T, NM_020991.4:c.484G>C, NM_020991.4:c.484G>A, NM_020991.3:c.484G>C, NM_020991.3:c.484G>A, NM_022644.3:c.*233G>C, NM_022644.3:c.*233G>A, NM_022645.2:c.199G>C, NM_022645.2:c.199G>A, NM_022646.2:c.38G>C, NM_022646.2:c.38G>A, NM_022646.1:c.38G>C, NM_022646.1:c.38G>A, NP_066271.1:p.Gly162Arg, NP_066271.1:p.Gly162Arg, NP_072171.1:p.Gly67Arg, NP_072171.1:p.Gly67Arg

Select item 142435537015.

rs1424355370 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 17:63872167 (GRCh38)
17:61949527 (GRCh37)
Canonical SPDI:: NC_000017.11:63872166:T:C,NC_000017.11:63872166:T:G
Gene:: CSH2 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000132/2 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.63872167T>C, NC_000017.11:g.63872167T>G, NC_000017.10:g.61949527T>C, NC_000017.10:g.61949527T>G, NM_020991.4:c.613A>G, NM_020991.4:c.613A>C, NM_020991.3:c.613A>G, NM_020991.3:c.613A>C, NM_022644.3:c.*362A>G, NM_022644.3:c.*362A>C, NM_022645.2:c.328A>G, NM_022645.2:c.328A>C, NM_022646.2:c.*95A>G, NM_022646.2:c.*95A>C, NM_022646.1:c.*95A>G, NM_022646.1:c.*95A>C, NP_066271.1:p.Met205Val, NP_066271.1:p.Met205Leu, NP_072171.1:p.Met110Val, NP_072171.1:p.Met110Leu

Select item 142397721016.

rs1423977210 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:63872636 (GRCh38)
17:61949996 (GRCh37)
Canonical SPDI:: NC_000017.11:63872635:C:A
Gene:: CSH2 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.63872636C>A, NC_000017.10:g.61949996C>A, NM_020991.4:c.397G>T, NM_020991.3:c.397G>T, NM_022644.3:c.397G>T, NP_066271.1:p.Asp133Tyr, NP_072170.1:p.Asp133Tyr

Select item 141283384017.

rs1412833840 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 17:63872260 (GRCh38)
17:61949620 (GRCh37)
Canonical SPDI:: NC_000017.11:63872259:T:
Gene:: CSH2 (Varview)
Functional Consequence:: frameshift_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.63872260del, NC_000017.10:g.61949620del, NM_020991.4:c.520del, NM_020991.3:c.520del, NM_022644.3:c.*269del, NM_022645.2:c.235del, NM_022646.2:c.*2del, NM_022646.1:c.*2del, NP_066271.1:p.Thr174fs, NP_072171.1:p.Thr79fs

Select item 141080010118.

rs1410800101 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:63872841 (GRCh38)
17:61950201 (GRCh37)
Canonical SPDI:: NC_000017.11:63872840:C:G
Gene:: CSH2 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.00003/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.63872841C>G, NC_000017.10:g.61950201C>G, NM_020991.4:c.285G>C, NM_020991.3:c.285G>C, NM_022644.3:c.285G>C, NP_066271.1:p.Gln95His, NP_072170.1:p.Gln95His

Select item 140911622619.

rs1409116226 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:63872889 (GRCh38)
17:61950249 (GRCh37)
Canonical SPDI:: NC_000017.11:63872888:G:A
Gene:: CSH2 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000017.11:g.63872889G>A, NC_000017.10:g.61950249G>A, NM_020991.4:c.237C>T, NM_020991.3:c.237C>T, NM_022644.3:c.237C>T

Select item 140878931520.

rs1408789315 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:63873187 (GRCh38)
17:61950547 (GRCh37)
Canonical SPDI:: NC_000017.11:63873186:G:C
Gene:: CSH2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.63873187G>C, NC_000017.10:g.61950547G>C, NM_020991.4:c.163C>G, NM_020991.3:c.163C>G, NM_022644.3:c.163C>G, NM_022645.2:c.163C>G, NP_066271.1:p.Gln55Glu, NP_072170.1:p.Gln55Glu, NP_072171.1:p.Gln55Glu

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