SNP Links for Protein (Select 11527402) - SNP

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Links from Protein

Items: 1 to 20 of 240

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Select item 14902897591.

rs1490289759 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 13:48258187 (GRCh38)
13:48832323 (GRCh37)
Canonical SPDI:: NC_000013.11:48258186:C:A,NC_000013.11:48258186:C:G
Gene:: ITM2B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000013.11:g.48258187C>A, NC_000013.11:g.48258187C>G, NC_000013.10:g.48832323C>A, NC_000013.10:g.48832323C>G, NG_013069.2:g.30576C>A, NG_013069.2:g.30576C>G, NM_021999.5:c.515C>A, NM_021999.5:c.515C>G, NM_021999.4:c.515C>A, NM_021999.4:c.515C>G, NP_068839.1:p.Ser172Tyr, NP_068839.1:p.Ser172Cys

Select item 14901945172.

rs1490194517 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 13:48256236 (GRCh38)
13:48830373 (GRCh37)
Canonical SPDI:: NC_000013.11:48256236::T
Gene:: ITM2B (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.48256236_48256237insT, NC_000013.10:g.48830372_48830373insT, NG_013069.2:g.28625_28626insT, NM_021999.5:c.306_307insT, NM_021999.4:c.306_307insT, NP_068839.1:p.Pro103fs

Select item 14891641453.

rs1489164145 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 13:48253924 (GRCh38)
13:48828060 (GRCh37)
Canonical SPDI:: NC_000013.11:48253923:T:A,NC_000013.11:48253923:T:C
Gene:: ITM2B (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000013.11:g.48253924T>A, NC_000013.11:g.48253924T>C, NC_000013.10:g.48828060T>A, NC_000013.10:g.48828060T>C, NG_013069.2:g.26313T>A, NG_013069.2:g.26313T>C, NM_021999.5:c.234T>A, NM_021999.5:c.234T>C, NM_021999.4:c.234T>A, NM_021999.4:c.234T>C, NP_068839.1:p.Tyr78Ter

Select item 14819568714.

rs1481956871 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 13:48253829 (GRCh38)
13:48827965 (GRCh37)
Canonical SPDI:: NC_000013.11:48253828:G:A,NC_000013.11:48253828:G:C
Gene:: ITM2B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.48253829G>A, NC_000013.11:g.48253829G>C, NC_000013.10:g.48827965G>A, NC_000013.10:g.48827965G>C, NG_013069.2:g.26218G>A, NG_013069.2:g.26218G>C, NM_021999.5:c.139G>A, NM_021999.5:c.139G>C, NM_021999.4:c.139G>A, NM_021999.4:c.139G>C, NP_068839.1:p.Val47Ile, NP_068839.1:p.Val47Leu

Select item 14791807085.

rs1479180708 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 13:48233449 (GRCh38)
13:48807585 (GRCh37)
Canonical SPDI:: NC_000013.11:48233448:C:A,NC_000013.11:48233448:C:T
Gene:: ITM2B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.48233449C>A, NC_000013.11:g.48233449C>T, NC_000013.10:g.48807585C>A, NC_000013.10:g.48807585C>T, NG_013069.2:g.5838C>A, NG_013069.2:g.5838C>T, NM_021999.5:c.89C>A, NM_021999.5:c.89C>T, NM_021999.4:c.89C>A, NM_021999.4:c.89C>T, NP_068839.1:p.Pro30His, NP_068839.1:p.Pro30Leu

Select item 14742010246.

rs1474201024 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:48233382 (GRCh38)
13:48807518 (GRCh37)
Canonical SPDI:: NC_000013.11:48233381:T:C
Gene:: ITM2B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000013.11:g.48233382T>C, NC_000013.10:g.48807518T>C, NG_013069.2:g.5771T>C, NM_021999.5:c.22T>C, NM_021999.4:c.22T>C, NP_068839.1:p.Ser8Pro

Select item 14729025277.

rs1472902527 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 13:48258827 (GRCh38)
13:48832963 (GRCh37)
Canonical SPDI:: NC_000013.11:48258826:A:C
Gene:: ITM2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000013.11:g.48258827A>C, NC_000013.10:g.48832963A>C, NG_013069.2:g.31216A>C, NM_021999.5:c.595A>C, NM_021999.4:c.595A>C, NP_068839.1:p.Ile199Leu

Select item 14711069368.

rs1471106936 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 13:48258870 (GRCh38)
13:48833006 (GRCh37)
Canonical SPDI:: NC_000013.11:48258869:A:T
Gene:: ITM2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.48258870A>T, NC_000013.10:g.48833006A>T, NG_013069.2:g.31259A>T, NM_021999.5:c.638A>T, NM_021999.4:c.638A>T, NP_068839.1:p.Asp213Val

Select item 14542113369.

rs1454211336 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:48233450 (GRCh38)
13:48807586 (GRCh37)
Canonical SPDI:: NC_000013.11:48233449:C:T
Gene:: ITM2B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000042/6 (GnomAD_exomes)
T=0.000562/1 (Korea1K)
HGVS:: NC_000013.11:g.48233450C>T, NC_000013.10:g.48807586C>T, NG_013069.2:g.5839C>T, NM_021999.5:c.90C>T, NM_021999.4:c.90C>T

Select item 145275227210.

rs1452752272 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:48256233 (GRCh38)
13:48830369 (GRCh37)
Canonical SPDI:: NC_000013.11:48256232:T:C
Gene:: ITM2B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.48256233T>C, NC_000013.10:g.48830369T>C, NG_013069.2:g.28622T>C, NM_021999.5:c.303T>C, NM_021999.4:c.303T>C

Select item 145207946411.

rs1452079464 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:48256217 (GRCh38)
13:48830353 (GRCh37)
Canonical SPDI:: NC_000013.11:48256216:A:G
Gene:: ITM2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000031/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.48256217A>G, NC_000013.10:g.48830353A>G, NG_013069.2:g.28606A>G, NM_021999.5:c.287A>G, NM_021999.4:c.287A>G, NP_068839.1:p.Asp96Gly

Select item 145057591212.

rs1450575912 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:48233459 (GRCh38)
13:48807595 (GRCh37)
Canonical SPDI:: NC_000013.11:48233458:C:T
Gene:: ITM2B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000094/1 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000013.11:g.48233459C>T, NC_000013.10:g.48807595C>T, NG_013069.2:g.5848C>T, NM_021999.5:c.99C>T, NM_021999.4:c.99C>T

Select item 145052539713.

rs1450525397 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 13:48233400 (GRCh38)
13:48807536 (GRCh37)
Canonical SPDI:: NC_000013.11:48233399:G:A,NC_000013.11:48233399:G:T
Gene:: ITM2B (Varview)
Functional Consequence:: missense_variant,stop_gained,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.00004/1 (TOMMO)
HGVS:: NC_000013.11:g.48233400G>A, NC_000013.11:g.48233400G>T, NC_000013.10:g.48807536G>A, NC_000013.10:g.48807536G>T, NG_013069.2:g.5789G>A, NG_013069.2:g.5789G>T, NM_021999.5:c.40G>A, NM_021999.5:c.40G>T, NM_021999.4:c.40G>A, NM_021999.4:c.40G>T, NP_068839.1:p.Glu14Lys, NP_068839.1:p.Glu14Ter

Select item 145045987514.

rs1450459875 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 13:48258885 (GRCh38)
13:48833021 (GRCh37)
Canonical SPDI:: NC_000013.11:48258884:T:A,NC_000013.11:48258884:T:G
Gene:: ITM2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.48258885T>A, NC_000013.11:g.48258885T>G, NC_000013.10:g.48833021T>A, NC_000013.10:g.48833021T>G, NG_013069.2:g.31274T>A, NG_013069.2:g.31274T>G, NM_021999.5:c.653T>A, NM_021999.5:c.653T>G, NM_021999.4:c.653T>A, NM_021999.4:c.653T>G, NP_068839.1:p.Phe218Tyr, NP_068839.1:p.Phe218Cys

Select item 144859463115.

rs1448594631 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 13:48258175 (GRCh38)
13:48832311 (GRCh37)
Canonical SPDI:: NC_000013.11:48258174:C:G
Gene:: ITM2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000142/2 (ALFA)
G=0.000019/5 (TOPMED)
HGVS:: NC_000013.11:g.48258175C>G, NC_000013.10:g.48832311C>G, NG_013069.2:g.30564C>G, NM_021999.5:c.503C>G, NM_021999.4:c.503C>G, NP_068839.1:p.Pro168Arg

Select item 144446449516.

rs1444464495 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:48233436 (GRCh38)
13:48807572 (GRCh37)
Canonical SPDI:: NC_000013.11:48233435:G:A
Gene:: ITM2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.48233436G>A, NC_000013.10:g.48807572G>A, NG_013069.2:g.5825G>A, NM_021999.5:c.76G>A, NM_021999.4:c.76G>A, NP_068839.1:p.Ala26Thr

Select item 144346391517.

rs1443463915 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 13:48258830 (GRCh38)
13:48832966 (GRCh37)
Canonical SPDI:: NC_000013.11:48258829:C:G
Gene:: ITM2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000013.11:g.48258830C>G, NC_000013.10:g.48832966C>G, NG_013069.2:g.31219C>G, NM_021999.5:c.598C>G, NM_021999.4:c.598C>G, NP_068839.1:p.His200Asp

Select item 144127970518.

rs1441279705 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 13:48233384 (GRCh38)
13:48807520 (GRCh37)
Canonical SPDI:: NC_000013.11:48233383:C:G
Gene:: ITM2B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.0014/4 (KOREAN)
HGVS:: NC_000013.11:g.48233384C>G, NC_000013.10:g.48807520C>G, NG_013069.2:g.5773C>G, NM_021999.5:c.24C>G, NM_021999.4:c.24C>G

Select item 143030205619.

rs1430302056 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:48258157 (GRCh38)
13:48832293 (GRCh37)
Canonical SPDI:: NC_000013.11:48258156:A:G
Gene:: ITM2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.48258157A>G, NC_000013.10:g.48832293A>G, NG_013069.2:g.30546A>G, NM_021999.5:c.485A>G, NM_021999.4:c.485A>G, NP_068839.1:p.Asp162Gly

Select item 142800706820.

rs1428007068 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 13:48261210 (GRCh38)
13:48835346 (GRCh37)
Canonical SPDI:: NC_000013.11:48261209:T:G
Gene:: ITM2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.48261210T>G, NC_000013.10:g.48835346T>G, NG_013069.2:g.33599T>G, NM_021999.5:c.787T>G, NM_021999.4:c.787T>G, NP_068839.1:p.Leu263Val

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