SNP Links for Protein (Select 6031162) - SNP

Links from Protein

Items: 1 to 20 of 200

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Select item 14880375681.

rs1488037568 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:71358801 (GRCh38)
16:71392704 (GRCh37)
Canonical SPDI:: NC_000016.10:71358800:C:T
Gene:: CALB2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.71358801C>T, NC_000016.9:g.71392704C>T, NW_013171813.1:g.226278C>T, NM_001740.5:c.9C>T, NM_001740.4:c.9C>T, NM_007088.4:c.9C>T, NM_007088.3:c.9C>T, NR_027910.3:n.79C>T, NR_027910.2:n.89C>T, NM_007087.2:c.9C>T, NM_007087.1:c.9C>T

Select item 14836540262.

rs1483654026 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:71384003 (GRCh38)
16:71417906 (GRCh37)
Canonical SPDI:: NC_000016.10:71384002:T:C
Gene:: CALB2 (Varview), LOC105371332 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.71384003T>C, NC_000016.9:g.71417906T>C, NW_013171813.1:g.251500T>C, NM_001740.5:c.511T>C, NM_001740.4:c.511T>C, NM_007088.4:c.511T>C, NM_007088.3:c.511T>C, NR_027910.3:n.581T>C, NR_027910.2:n.591T>C, NM_007087.2:c.511T>C, NM_007087.1:c.511T>C

Select item 14820847383.

rs1482084738 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:71377722 (GRCh38)
16:71411625 (GRCh37)
Canonical SPDI:: NC_000016.10:71377721:T:C
Gene:: CALB2 (Varview), LOC105371332 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000014/2 (GnomAD)
C=0.000023/6 (TOPMED)
HGVS:: NC_000016.10:g.71377722T>C, NC_000016.9:g.71411625T>C, NW_013171813.1:g.245219T>C, NM_001740.5:c.317T>C, NM_001740.4:c.317T>C, NM_007088.4:c.317T>C, NM_007088.3:c.317T>C, NR_027910.3:n.387T>C, NR_027910.2:n.397T>C, NM_007087.2:c.317T>C, NM_007087.1:c.317T>C, NP_001731.2:p.Val106Ala, NP_009019.1:p.Val106Ala

Select item 14804885894.

rs1480488589 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 16:71374800 (GRCh38)
16:71408704 (GRCh37)
Canonical SPDI:: NC_000016.10:71374800:T:TT
Gene:: CALB2 (Varview), LOC105371332 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.71374801dup, NC_000016.9:g.71408704dup, NW_013171813.1:g.242298dup, NM_001740.5:c.228dup, NM_001740.4:c.228dup, NM_007088.4:c.228dup, NM_007088.3:c.228dup, NR_027910.3:n.298dup, NR_027910.2:n.308dup, NM_007087.2:c.228dup, NM_007087.1:c.228dup, NP_001731.2:p.Lys77Ter, NP_009019.1:p.Lys77Ter

Select item 14768803915.

rs1476880391 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:71384022 (GRCh38)
16:71417925 (GRCh37)
Canonical SPDI:: NC_000016.10:71384021:C:T
Gene:: CALB2 (Varview), LOC105371332 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_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_000016.10:g.71384022C>T, NC_000016.9:g.71417925C>T, NW_013171813.1:g.251519C>T, NM_001740.5:c.530C>T, NM_001740.4:c.530C>T, NM_007088.4:c.530C>T, NM_007088.3:c.530C>T, NR_027910.3:n.600C>T, NR_027910.2:n.610C>T, NM_007087.2:c.530C>T, NM_007087.1:c.530C>T, NP_001731.2:p.Ser177Phe, NP_009019.1:p.Ser177Phe

Select item 14759188706.

rs1475918870 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:71372209 (GRCh38)
16:71406112 (GRCh37)
Canonical SPDI:: NC_000016.10:71372208:G:T
Gene:: CALB2 (Varview), LOC105371332 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.71372209G>T, NC_000016.9:g.71406112G>T, NW_013171813.1:g.239706G>T, NM_001740.5:c.151G>T, NM_001740.4:c.151G>T, NM_007088.4:c.151G>T, NM_007088.3:c.151G>T, NR_027910.3:n.221G>T, NR_027910.2:n.231G>T, NM_007087.2:c.151G>T, NM_007087.1:c.151G>T, NP_001731.2:p.Ala51Ser, NP_009019.1:p.Ala51Ser

Select item 14755311657.

rs1475531165 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:71372218 (GRCh38)
16:71406121 (GRCh37)
Canonical SPDI:: NC_000016.10:71372217:G:A
Gene:: CALB2 (Varview), LOC105371332 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.71372218G>A, NC_000016.9:g.71406121G>A, NW_013171813.1:g.239715G>A, NM_001740.5:c.160G>A, NM_001740.4:c.160G>A, NM_007088.4:c.160G>A, NM_007088.3:c.160G>A, NR_027910.3:n.230G>A, NR_027910.2:n.240G>A, NM_007087.2:c.160G>A, NM_007087.1:c.160G>A, NP_001731.2:p.Gly54Ser, NP_009019.1:p.Gly54Ser

Select item 14734592758.

rs1473459275 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 16:71382746 (GRCh38)
16:71416649 (GRCh37)
Canonical SPDI:: NC_000016.10:71382745:A:C
Gene:: CALB2 (Varview), LOC105371332 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.71382746A>C, NC_000016.9:g.71416649A>C, NW_013171813.1:g.250243A>C, NM_001740.5:c.370A>C, NM_001740.4:c.370A>C, NM_007088.4:c.370A>C, NM_007088.3:c.370A>C, NR_027910.3:n.440A>C, NR_027910.2:n.450A>C, NM_007087.2:c.370A>C, NM_007087.1:c.370A>C, NP_001731.2:p.Ser124Arg, NP_009019.1:p.Ser124Arg

Select item 14730223759.

rs1473022375 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:71374763 (GRCh38)
16:71408666 (GRCh37)
Canonical SPDI:: NC_000016.10:71374762:T:C
Gene:: CALB2 (Varview), LOC105371332 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_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_000016.10:g.71374763T>C, NC_000016.9:g.71408666T>C, NW_013171813.1:g.242260T>C, NM_001740.5:c.190T>C, NM_001740.4:c.190T>C, NM_007088.4:c.190T>C, NM_007088.3:c.190T>C, NR_027910.3:n.260T>C, NR_027910.2:n.270T>C, NM_007087.2:c.190T>C, NM_007087.1:c.190T>C, NP_001731.2:p.Phe64Leu, NP_009019.1:p.Phe64Leu

Select item 147203726410.

rs1472037264 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:71372226 (GRCh38)
16:71406129 (GRCh37)
Canonical SPDI:: NC_000016.10:71372225:C:T
Gene:: CALB2 (Varview), LOC105371332 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.71372226C>T, NC_000016.9:g.71406129C>T, NW_013171813.1:g.239723C>T, NM_001740.5:c.168C>T, NM_001740.4:c.168C>T, NM_007088.4:c.168C>T, NM_007088.3:c.168C>T, NR_027910.3:n.238C>T, NR_027910.2:n.248C>T, NM_007087.2:c.168C>T, NM_007087.1:c.168C>T

Select item 146570106511.

rs1465701065 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:71383991 (GRCh38)
16:71417894 (GRCh37)
Canonical SPDI:: NC_000016.10:71383990:G:A
Gene:: CALB2 (Varview), LOC105371332 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,non_coding_transcript_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0./0 (KOREAN)
A=0.000021/3 (GnomAD)
A=0.000038/10 (TOPMED)
G=0.5/2 (SGDP_PRJ)
HGVS:: NC_000016.10:g.71383991G>A, NC_000016.9:g.71417894G>A, NW_013171813.1:g.251488G>A, NM_001740.5:c.499G>A, NM_001740.4:c.499G>A, NM_007088.4:c.499G>A, NM_007088.3:c.499G>A, NR_027910.3:n.569G>A, NR_027910.2:n.579G>A, NM_007087.2:c.499G>A, NM_007087.1:c.499G>A, NP_001731.2:p.Gly167Arg, NP_009019.1:p.Gly167Arg

Select item 145762359812.

rs1457623598 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:71374824 (GRCh38)
16:71408727 (GRCh37)
Canonical SPDI:: NC_000016.10:71374823:A:G
Gene:: CALB2 (Varview), LOC105371332 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.71374824A>G, NC_000016.9:g.71408727A>G, NW_013171813.1:g.242321A>G, NM_001740.5:c.251A>G, NM_001740.4:c.251A>G, NM_007088.4:c.251A>G, NM_007088.3:c.251A>G, NR_027910.3:n.321A>G, NR_027910.2:n.331A>G, NM_007087.2:c.251A>G, NM_007087.1:c.251A>G, NP_001731.2:p.Glu84Gly, NP_009019.1:p.Glu84Gly

Select item 145720034213.

rs1457200342 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 16:71382756 (GRCh38)
16:71416659 (GRCh37)
Canonical SPDI:: NC_000016.10:71382755:T:A,NC_000016.10:71382755:T:C
Gene:: CALB2 (Varview), LOC105371332 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.71382756T>A, NC_000016.10:g.71382756T>C, NC_000016.9:g.71416659T>A, NC_000016.9:g.71416659T>C, NW_013171813.1:g.250253T>A, NW_013171813.1:g.250253T>C, NM_001740.5:c.380T>A, NM_001740.5:c.380T>C, NM_001740.4:c.380T>A, NM_001740.4:c.380T>C, NM_007088.4:c.380T>A, NM_007088.4:c.380T>C, NM_007088.3:c.380T>A, NM_007088.3:c.380T>C, NR_027910.3:n.450T>A, NR_027910.3:n.450T>C, NR_027910.2:n.460T>A, NR_027910.2:n.460T>C, NM_007087.2:c.380T>A, NM_007087.2:c.380T>C, NM_007087.1:c.380T>A, NM_007087.1:c.380T>C, NP_001731.2:p.Ile127Asn, NP_001731.2:p.Ile127Thr, NP_009019.1:p.Ile127Asn, NP_009019.1:p.Ile127Thr

Select item 145612272914.

rs1456122729 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 16:71358853 (GRCh38)
16:71392756 (GRCh37)
Canonical SPDI:: NC_000016.10:71358852:TT:T
Gene:: CALB2 (Varview)
Functional Consequence:: non_coding_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.71358854del, NC_000016.9:g.71392757del, NW_013171813.1:g.226331del, NM_001740.5:c.62del, NM_001740.4:c.62del, NM_007088.4:c.62del, NM_007088.3:c.62del, NR_027910.3:n.132del, NR_027910.2:n.142del, NM_007087.2:c.62del, NM_007087.1:c.62del, NP_001731.2:p.Phe21fs, NP_009019.1:p.Phe21fs

Select item 144755256615.

rs1447552566 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:71358822 (GRCh38)
16:71392725 (GRCh37)
Canonical SPDI:: NC_000016.10:71358821:C:T
Gene:: CALB2 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.71358822C>T, NC_000016.9:g.71392725C>T, NW_013171813.1:g.226299C>T, NM_001740.5:c.30C>T, NM_001740.4:c.30C>T, NM_007088.4:c.30C>T, NM_007088.3:c.30C>T, NR_027910.3:n.100C>T, NR_027910.2:n.110C>T, NM_007087.2:c.30C>T, NM_007087.1:c.30C>T

Select item 144590810616.

rs1445908106 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:71382762 (GRCh38)
16:71416665 (GRCh37)
Canonical SPDI:: NC_000016.10:71382761:C:T
Gene:: CALB2 (Varview), LOC105371332 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000015/4 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000016.10:g.71382762C>T, NC_000016.9:g.71416665C>T, NW_013171813.1:g.250259C>T, NM_001740.5:c.386C>T, NM_001740.4:c.386C>T, NM_007088.4:c.386C>T, NM_007088.3:c.386C>T, NR_027910.3:n.456C>T, NR_027910.2:n.466C>T, NM_007087.2:c.386C>T, NM_007087.1:c.386C>T, NP_001731.2:p.Ala129Val, NP_009019.1:p.Ala129Val

Select item 144537980817.

rs1445379808 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:71374816 (GRCh38)
16:71408719 (GRCh37)
Canonical SPDI:: NC_000016.10:71374815:G:A
Gene:: CALB2 (Varview), LOC105371332 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000043/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.71374816G>A, NC_000016.9:g.71408719G>A, NW_013171813.1:g.242313G>A, NM_001740.5:c.243G>A, NM_001740.4:c.243G>A, NM_007088.4:c.243G>A, NM_007088.3:c.243G>A, NR_027910.3:n.313G>A, NR_027910.2:n.323G>A, NM_007087.2:c.243G>A, NM_007087.1:c.243G>A

Select item 142599235218.

rs1425992352 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:71358818 (GRCh38)
16:71392721 (GRCh37)
Canonical SPDI:: NC_000016.10:71358817:C:T
Gene:: CALB2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000017/4 (GnomAD_exomes)
T=0.000019/5 (TOPMED)
HGVS:: NC_000016.10:g.71358818C>T, NC_000016.9:g.71392721C>T, NW_013171813.1:g.226295C>T, NM_001740.5:c.26C>T, NM_001740.4:c.26C>T, NM_007088.4:c.26C>T, NM_007088.3:c.26C>T, NR_027910.3:n.96C>T, NR_027910.2:n.106C>T, NM_007087.2:c.26C>T, NM_007087.1:c.26C>T, NP_001731.2:p.Pro9Leu, NP_009019.1:p.Pro9Leu

Select item 142568138419.

rs1425681384 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:71384006 (GRCh38)
16:71417909 (GRCh37)
Canonical SPDI:: NC_000016.10:71384005:G:A
Gene:: CALB2 (Varview), LOC105371332 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000016.10:g.71384006G>A, NC_000016.9:g.71417909G>A, NW_013171813.1:g.251503G>A, NM_001740.5:c.514G>A, NM_001740.4:c.514G>A, NM_007088.4:c.514G>A, NM_007088.3:c.514G>A, NR_027910.3:n.584G>A, NR_027910.2:n.594G>A, NM_007087.2:c.514G>A, NM_007087.1:c.514G>A, NP_001731.2:p.Gly172Ser, NP_009019.1:p.Gly172Ser

Select item 141625266120.

rs1416252661 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 16:71374745 (GRCh38)
16:71408648 (GRCh37)
Canonical SPDI:: NC_000016.10:71374744:A:C
Gene:: CALB2 (Varview), LOC105371332 (Varview)
Functional Consequence:: missense_variant,intron_variant,non_coding_transcript_variant,coding_sequence_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_000016.10:g.71374745A>C, NC_000016.9:g.71408648A>C, NW_013171813.1:g.242242A>C, NM_001740.5:c.172A>C, NM_001740.4:c.172A>C, NM_007088.4:c.172A>C, NM_007088.3:c.172A>C, NR_027910.3:n.242A>C, NR_027910.2:n.252A>C, NM_007087.2:c.172A>C, NM_007087.1:c.172A>C, NP_001731.2:p.Met58Leu, NP_009019.1:p.Met58Leu

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