SNP Links for Protein (Select 7661820) - SNP

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Links from Protein

Items: 1 to 20 of 150

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Select item 14796690621.

rs1479669062 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:55819351 (GRCh38)
12:56213135 (GRCh37)
Canonical SPDI:: NC_000012.12:55819350:G:C
Gene:: ORMDL2 (Varview), SARNP (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,missense_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_000012.12:g.55819351G>C, NC_000012.11:g.56213135G>C, NM_014182.5:c.184G>C, NM_014182.4:c.184G>C, NP_054901.1:p.Val62Leu

Select item 14729628832.

rs1472962883 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:55819422 (GRCh38)
12:56213206 (GRCh37)
Canonical SPDI:: NC_000012.12:55819421:C:T
Gene:: ORMDL2 (Varview), SARNP (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.55819422C>T, NC_000012.11:g.56213206C>T, NM_014182.5:c.255C>T, NM_014182.4:c.255C>T

Select item 14651454253.

rs1465145425 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:55819388 (GRCh38)
12:56213172 (GRCh37)
Canonical SPDI:: NC_000012.12:55819387:C:A
Gene:: ORMDL2 (Varview), SARNP (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.55819388C>A, NC_000012.11:g.56213172C>A, NM_014182.5:c.221C>A, NM_014182.4:c.221C>A, NP_054901.1:p.Thr74Asn

Select item 14489443694.

rs1448944369 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 12:55819371 (GRCh38)
12:56213156 (GRCh37)
Canonical SPDI:: NC_000012.12:55819371:GGG:GGGG
Gene:: ORMDL2 (Varview), SARNP (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGG=0.000087/2 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
G=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000012.12:g.55819374dup, NC_000012.11:g.56213158dup, NM_014182.5:c.207dup, NM_014182.4:c.207dup, NP_054901.1:p.Thr70fs

Select item 14408132375.

rs1440813237 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:55820279 (GRCh38)
12:56214063 (GRCh37)
Canonical SPDI:: NC_000012.12:55820278:T:C
Gene:: ORMDL2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000012.12:g.55820279T>C, NC_000012.11:g.56214063T>C, NM_014182.5:c.346T>C, NM_014182.4:c.346T>C, NP_054901.1:p.Tyr116His

Select item 14330805796.

rs1433080579 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:55820310 (GRCh38)
12:56214094 (GRCh37)
Canonical SPDI:: NC_000012.12:55820309:T:C
Gene:: ORMDL2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.55820310T>C, NC_000012.11:g.56214094T>C, NM_014182.5:c.377T>C, NM_014182.4:c.377T>C, NP_054901.1:p.Ile126Thr

Select item 14263837727.

rs1426383772 [Homo sapiens]

Variant type:: DELINS
Alleles:: GC>- [Show Flanks]
Chromosome:: 12:55819463 (GRCh38)
12:56213247 (GRCh37)
Canonical SPDI:: NC_000012.12:55819461:CGC:C
Gene:: ORMDL2 (Varview), SARNP (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.55819463_55819464del, NC_000012.11:g.56213247_56213248del, NM_014182.5:c.296_297del, NM_014182.4:c.296_297del, NP_054901.1:p.Arg99fs

Select item 14246397268.

rs1424639726 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:55820377 (GRCh38)
12:56214161 (GRCh37)
Canonical SPDI:: NC_000012.12:55820376:T:C
Gene:: ORMDL2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.55820377T>C, NC_000012.11:g.56214161T>C, NM_014182.5:c.444T>C, NM_014182.4:c.444T>C

Select item 14233219409.

rs1423321940 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 12:55819109 (GRCh38)
12:56212893 (GRCh37)
Canonical SPDI:: NC_000012.12:55819108:T:
Gene:: ORMDL2 (Varview), SARNP (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000012.12:g.55819109del, NC_000012.11:g.56212893del, NM_014182.5:c.110del, NM_014182.4:c.110del, NP_054901.1:p.Leu37fs

Select item 141548350310.

rs1415483503 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:55819386 (GRCh38)
12:56213170 (GRCh37)
Canonical SPDI:: NC_000012.12:55819385:G:A
Gene:: ORMDL2 (Varview), SARNP (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.55819386G>A, NC_000012.11:g.56213170G>A, NM_014182.5:c.219G>A, NM_014182.4:c.219G>A

Select item 141339169311.

rs1413391693 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 12:55820332 (GRCh38)
12:56214116 (GRCh37)
Canonical SPDI:: NC_000012.12:55820331:T:C,NC_000012.12:55820331:T:G
Gene:: ORMDL2 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000066/1 (ALFA)
C=0.000004/1 (TOPMED)
G=0.000223/1 (Estonian)
HGVS:: NC_000012.12:g.55820332T>C, NC_000012.12:g.55820332T>G, NC_000012.11:g.56214116T>C, NC_000012.11:g.56214116T>G, NM_014182.5:c.399T>C, NM_014182.5:c.399T>G, NM_014182.4:c.399T>C, NM_014182.4:c.399T>G, NP_054901.1:p.Ser133Arg

Select item 141291856812.

rs1412918568 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:55819016 (GRCh38)
12:56212800 (GRCh37)
Canonical SPDI:: NC_000012.12:55819015:C:G
Gene:: ORMDL2 (Varview), SARNP (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
HGVS:: NC_000012.12:g.55819016C>G, NC_000012.11:g.56212800C>G, NM_014182.5:c.17C>G, NM_014182.4:c.17C>G, NP_054901.1:p.Ala6Gly

Select item 141169674513.

rs1411696745 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:55820378 (GRCh38)
12:56214162 (GRCh37)
Canonical SPDI:: NC_000012.12:55820377:G:A
Gene:: ORMDL2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.55820378G>A, NC_000012.11:g.56214162G>A, NM_014182.5:c.445G>A, NM_014182.4:c.445G>A, NP_054901.1:p.Gly149Ser

Select item 140645469414.

rs1406454694 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:55820287 (GRCh38)
12:56214071 (GRCh37)
Canonical SPDI:: NC_000012.12:55820286:G:A
Gene:: ORMDL2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000012.12:g.55820287G>A, NC_000012.11:g.56214071G>A, NM_014182.5:c.354G>A, NM_014182.4:c.354G>A

Select item 140170906815.

rs1401709068 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:55819400 (GRCh38)
12:56213184 (GRCh37)
Canonical SPDI:: NC_000012.12:55819399:G:A
Gene:: ORMDL2 (Varview), SARNP (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000012.12:g.55819400G>A, NC_000012.11:g.56213184G>A, NM_014182.5:c.233G>A, NM_014182.4:c.233G>A, NP_054901.1:p.Gly78Glu

Select item 138531839316.

rs1385318393 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:55819469 (GRCh38)
12:56213253 (GRCh37)
Canonical SPDI:: NC_000012.12:55819468:T:G
Gene:: ORMDL2 (Varview), SARNP (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,2KB_upstream_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)
HGVS:: NC_000012.12:g.55819469T>G, NC_000012.11:g.56213253T>G, NM_014182.5:c.302T>G, NM_014182.4:c.302T>G, NP_054901.1:p.Phe101Cys

Select item 138193164717.

rs1381931647 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 12:55819487 (GRCh38)
12:56213271 (GRCh37)
Canonical SPDI:: NC_000012.12:55819486:T:C,NC_000012.12:55819486:T:G
Gene:: ORMDL2 (Varview), SARNP (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.55819487T>C, NC_000012.12:g.55819487T>G, NC_000012.11:g.56213271T>C, NC_000012.11:g.56213271T>G, NM_014182.5:c.320T>C, NM_014182.5:c.320T>G, NM_014182.4:c.320T>C, NM_014182.4:c.320T>G, NP_054901.1:p.Ile107Thr, NP_054901.1:p.Ile107Ser

Select item 137767437218.

rs1377674372 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:55819488 (GRCh38)
12:56213272 (GRCh37)
Canonical SPDI:: NC_000012.12:55819487:T:C
Gene:: ORMDL2 (Varview), SARNP (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.55819488T>C, NC_000012.11:g.56213272T>C, NM_014182.5:c.321T>C, NM_014182.4:c.321T>C

Select item 137664804919.

rs1376648049 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 12:55819364 (GRCh38)
12:56213148 (GRCh37)
Canonical SPDI:: NC_000012.12:55819363:C:
Gene:: ORMDL2 (Varview), SARNP (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,frameshift_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.55819364del, NC_000012.11:g.56213148del, NM_014182.5:c.197del, NM_014182.4:c.197del, NP_054901.1:p.Thr66fs

Select item 136011397020.

rs1360113970 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:55819486 (GRCh38)
12:56213270 (GRCh37)
Canonical SPDI:: NC_000012.12:55819485:A:C
Gene:: ORMDL2 (Varview), SARNP (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.55819486A>C, NC_000012.11:g.56213270A>C, NM_014182.5:c.319A>C, NM_014182.4:c.319A>C, NP_054901.1:p.Ile107Leu

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