SNP Links for Protein (Select 28416940) - SNP

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Links from Protein

Items: 1 to 20 of 246

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Select item 14904671341.

rs1490467134 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTAC [Show Flanks]
Chromosome:: 7:66995361 (GRCh38)
7:66460349 (GRCh37)
Canonical SPDI:: NC_000007.14:66995361:CGTAC:CGTACGTAC
Gene:: SBDS (Varview), TYW1 (Varview)
Functional Consequence:: frameshift_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGTACGTAC=0./0 (ALFA)
CGTA=0.000004/1 (TOPMED)
CGTA=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.66995363_66995366dup, NC_000007.13:g.66460350_66460353dup, NG_033069.1:g.3559_3562dup, NG_007277.1:g.5237_5240dup, NM_016038.4:c.53_56dup, NM_016038.3:c.53_56dup, NM_016038.2:c.53_56dup, NP_057122.2:p.Met20fs

Select item 14889482862.

rs1488948286 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:66991182 (GRCh38)
7:66456169 (GRCh37)
Canonical SPDI:: NC_000007.14:66991181:C:T
Gene:: SBDS (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000007.14:g.66991182C>T, NC_000007.13:g.66456169C>T, NG_007277.1:g.9420G>A, NM_016038.4:c.579G>A, NM_016038.3:c.579G>A, NM_016038.2:c.579G>A

Select item 14870607563.

rs1487060756 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:66995360 (GRCh38)
7:66460347 (GRCh37)
Canonical SPDI:: NC_000007.14:66995359:T:G
Gene:: SBDS (Varview), TYW1 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.66995360T>G, NC_000007.13:g.66460347T>G, NG_033069.1:g.3556T>G, NG_007277.1:g.5242A>C, NM_016038.4:c.58A>C, NM_016038.3:c.58A>C, NM_016038.2:c.58A>C, NP_057122.2:p.Met20Leu

Select item 14836610824.

rs1483661082 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:66993400 (GRCh38)
7:66458387 (GRCh37)
Canonical SPDI:: NC_000007.14:66993399:T:C
Gene:: SBDS (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000007.14:g.66993400T>C, NC_000007.13:g.66458387T>C, NG_033069.1:g.1596T>C, NG_007277.1:g.7202A>G, NM_016038.4:c.276A>G, NM_016038.3:c.276A>G, NM_016038.2:c.276A>G

Select item 14808722565.

rs1480872256 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:66994238 (GRCh38)
7:66459225 (GRCh37)
Canonical SPDI:: NC_000007.14:66994237:C:G
Gene:: SBDS (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.66994238C>G, NC_000007.13:g.66459225C>G, NG_033069.1:g.2434C>G, NG_007277.1:g.6364G>C, NM_016038.4:c.232G>C, NM_016038.3:c.232G>C, NM_016038.2:c.232G>C, NP_057122.2:p.Asp78His

Select item 14768999186.

rs1476899918 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:66988376 (GRCh38)
7:66453363 (GRCh37)
Canonical SPDI:: NC_000007.14:66988375:C:A
Gene:: SBDS (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.66988376C>A, NC_000007.13:g.66453363C>A, NG_007277.1:g.12226G>T, NM_016038.4:c.748G>T, NM_016038.3:c.748G>T, NM_016038.2:c.748G>T, NP_057122.2:p.Glu250Ter

Select item 14763766377.

rs1476376637 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 7:66995399 (GRCh38)
7:66460386 (GRCh37)
Canonical SPDI:: NC_000007.14:66995398:T:A,NC_000007.14:66995398:T:C
Gene:: SBDS (Varview), TYW1 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.66995399T>A, NC_000007.14:g.66995399T>C, NC_000007.13:g.66460386T>A, NC_000007.13:g.66460386T>C, NG_033069.1:g.3595T>A, NG_033069.1:g.3595T>C, NG_007277.1:g.5203A>T, NG_007277.1:g.5203A>G, NM_016038.4:c.19A>T, NM_016038.4:c.19A>G, NM_016038.3:c.19A>T, NM_016038.3:c.19A>G, NM_016038.2:c.19A>T, NM_016038.2:c.19A>G, NP_057122.2:p.Thr7Ser, NP_057122.2:p.Thr7Ala

Select item 14738754018.

rs1473875401 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:66994248 (GRCh38)
7:66459235 (GRCh37)
Canonical SPDI:: NC_000007.14:66994247:C:T
Gene:: SBDS (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000106/2 (TOMMO)
HGVS:: NC_000007.14:g.66994248C>T, NC_000007.13:g.66459235C>T, NG_033069.1:g.2444C>T, NG_007277.1:g.6354G>A, NM_016038.4:c.222G>A, NM_016038.3:c.222G>A, NM_016038.2:c.222G>A

Select item 14731473069.

rs1473147306 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:66993323 (GRCh38)
7:66458310 (GRCh37)
Canonical SPDI:: NC_000007.14:66993322:T:A
Gene:: SBDS (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.66993323T>A, NC_000007.13:g.66458310T>A, NG_033069.1:g.1519T>A, NG_007277.1:g.7279A>T, NM_016038.4:c.353A>T, NM_016038.3:c.353A>T, NM_016038.2:c.353A>T, NP_057122.2:p.Lys118Ile

Select item 147279938010.

rs1472799380 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:66993218 (GRCh38)
7:66458205 (GRCh37)
Canonical SPDI:: NC_000007.14:66993217:T:C
Gene:: SBDS (Varview)
Functional Consequence:: missense_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_000007.14:g.66993218T>C, NC_000007.13:g.66458205T>C, NG_033069.1:g.1414T>C, NG_007277.1:g.7384A>G, NM_016038.4:c.458A>G, NM_016038.3:c.458A>G, NM_016038.2:c.458A>G, NP_057122.2:p.Gln153Arg

Select item 146405523311.

rs1464055233 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:66994220 (GRCh38)
7:66459207 (GRCh37)
Canonical SPDI:: NC_000007.14:66994219:A:G
Gene:: SBDS (Varview)
Functional Consequence:: missense_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_000007.14:g.66994220A>G, NC_000007.13:g.66459207A>G, NG_033069.1:g.2416A>G, NG_007277.1:g.6382T>C, NM_016038.4:c.250T>C, NM_016038.3:c.250T>C, NM_016038.2:c.250T>C, NP_057122.2:p.Cys84Arg

Select item 146113421212.

rs1461134212 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:66995303 (GRCh38)
7:66460290 (GRCh37)
Canonical SPDI:: NC_000007.14:66995302:A:G
Gene:: SBDS (Varview), TYW1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.66995303A>G, NC_000007.13:g.66460290A>G, NG_033069.1:g.3499A>G, NG_007277.1:g.5299T>C, NM_016038.4:c.115T>C, NM_016038.3:c.115T>C, NM_016038.2:c.115T>C, NP_057122.2:p.Trp39Arg

Select item 145824643313.

rs1458246433 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:66994253 (GRCh38)
7:66459240 (GRCh37)
Canonical SPDI:: NC_000007.14:66994252:T:G
Gene:: SBDS (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000007.14:g.66994253T>G, NC_000007.13:g.66459240T>G, NG_033069.1:g.2449T>G, NG_007277.1:g.6349A>C, NM_016038.4:c.217A>C, NM_016038.3:c.217A>C, NM_016038.2:c.217A>C, NP_057122.2:p.Ser73Arg

Select item 145546541714.

rs1455465417 [Homo sapiens]

Variant type:: DELINS
Alleles:: AACT>- [Show Flanks]
Chromosome:: 7:66991144 (GRCh38)
7:66456131 (GRCh37)
Canonical SPDI:: NC_000007.14:66991141:CTAACT:CT
Gene:: SBDS (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.66991144_66991147del, NC_000007.13:g.66456131_66456134del, NG_007277.1:g.9457_9460del, NM_016038.4:c.616_619del, NM_016038.3:c.616_619del, NM_016038.2:c.616_619del, NP_057122.2:p.Leu206fs

Select item 145449357915.

rs1454493579 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:66993358 (GRCh38)
7:66458345 (GRCh37)
Canonical SPDI:: NC_000007.14:66993357:C:G
Gene:: SBDS (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000071/1 (TOMMO)
HGVS:: NC_000007.14:g.66993358C>G, NC_000007.13:g.66458345C>G, NG_033069.1:g.1554C>G, NG_007277.1:g.7244G>C, NM_016038.4:c.318G>C, NM_016038.3:c.318G>C, NM_016038.2:c.318G>C, NP_057122.2:p.Gln106His

Select item 144101686516.

rs1441016865 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:66995316 (GRCh38)
7:66460303 (GRCh37)
Canonical SPDI:: NC_000007.14:66995315:G:C
Gene:: SBDS (Varview), TYW1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.66995316G>C, NC_000007.13:g.66460303G>C, NG_033069.1:g.3512G>C, NG_007277.1:g.5286C>G, NM_016038.4:c.102C>G, NM_016038.3:c.102C>G, NM_016038.2:c.102C>G, NP_057122.2:p.Asn34Lys

Select item 144054781917.

rs1440547819 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCT>- [Show Flanks]
Chromosome:: 7:66988390 (GRCh38)
7:66453377 (GRCh37)
Canonical SPDI:: NC_000007.14:66988387:CTCCT:CT
Gene:: SBDS (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CT=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.66988390_66988392del, NC_000007.13:g.66453377_66453379del, NG_007277.1:g.12212_12214del, NM_016038.4:c.734_736del, NM_016038.3:c.734_736del, NM_016038.2:c.734_736del, NP_057122.2:p.Gly245del

Select item 143947796618.

rs1439477966 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:66991171 (GRCh38)
7:66456158 (GRCh37)
Canonical SPDI:: NC_000007.14:66991170:A:G
Gene:: SBDS (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0./0 (Korea1K)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.66991171A>G, NC_000007.13:g.66456158A>G, NG_007277.1:g.9431T>C, NM_016038.4:c.590T>C, NM_016038.3:c.590T>C, NM_016038.2:c.590T>C, NP_057122.2:p.Ile197Thr

Select item 143746162519.

rs1437461625 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:66988397 (GRCh38)
7:66453384 (GRCh37)
Canonical SPDI:: NC_000007.14:66988396:C:T
Gene:: SBDS (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.66988397C>T, NC_000007.13:g.66453384C>T, NG_007277.1:g.12205G>A, NM_016038.4:c.727G>A, NM_016038.3:c.727G>A, NM_016038.2:c.727G>A, NP_057122.2:p.Glu243Lys

Select item 143533059920.

rs1435330599 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:66988475 (GRCh38)
7:66453462 (GRCh37)
Canonical SPDI:: NC_000007.14:66988474:A:T
Gene:: SBDS (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.66988475A>T, NC_000007.13:g.66453462A>T, NG_007277.1:g.12127T>A, NM_016038.4:c.649T>A, NM_016038.3:c.649T>A, NM_016038.2:c.649T>A, NP_057122.2:p.Phe217Ile

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