SNP Links for Protein (Select 56243551) - SNP

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Links from Protein

Items: 1 to 20 of 338

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Select item 14900321991.

rs1490032199 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:38144282 (GRCh38)
8:38001800 (GRCh37)
Canonical SPDI:: NC_000008.11:38144281:G:T
Gene:: STAR (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.38144282G>T, NC_000008.10:g.38001800G>T, NG_011827.1:g.11801C>A, NM_000349.3:c.849C>A, NM_000349.2:c.849C>A, NM_001007243.1:c.795C>A

Select item 14899864102.

rs1489986410 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:38148283 (GRCh38)
8:38005801 (GRCh37)
Canonical SPDI:: NC_000008.11:38148282:A:G
Gene:: STAR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.38148283A>G, NC_000008.10:g.38005801A>G, NG_011827.1:g.7800T>C, NM_000349.3:c.223T>C, NM_000349.2:c.223T>C, NM_001007243.1:c.223T>C, NP_000340.2:p.Tyr75His

Select item 14871244263.

rs1487124426 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 8:38146117 (GRCh38)
8:38003635 (GRCh37)
Canonical SPDI:: NC_000008.11:38146116:T:A,NC_000008.11:38146116:T:C
Gene:: STAR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.38146117T>A, NC_000008.11:g.38146117T>C, NC_000008.10:g.38003635T>A, NC_000008.10:g.38003635T>C, NG_011827.1:g.9966A>T, NG_011827.1:g.9966A>G, NM_000349.3:c.496A>T, NM_000349.3:c.496A>G, NM_000349.2:c.496A>T, NM_000349.2:c.496A>G, NP_000340.2:p.Ile166Phe, NP_000340.2:p.Ile166Val

Select item 14870109524.

rs1487010952 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:38148702 (GRCh38)
8:38006220 (GRCh37)
Canonical SPDI:: NC_000008.11:38148701:G:A
Gene:: STAR (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.38148702G>A, NC_000008.10:g.38006220G>A, NG_011827.1:g.7381C>T, NM_000349.3:c.117C>T, NM_000349.2:c.117C>T, NM_001007243.1:c.117C>T

Select item 14862308175.

rs1486230817 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:38150769 (GRCh38)
8:38008287 (GRCh37)
Canonical SPDI:: NC_000008.11:38150768:A:G
Gene:: STAR (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_000008.11:g.38150769A>G, NC_000008.10:g.38008287A>G, NG_011827.1:g.5314T>C, NM_000349.3:c.50T>C, NM_000349.2:c.50T>C, NM_001007243.1:c.50T>C, NP_000340.2:p.Met17Thr

Select item 14773417806.

rs1477341780 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 8:38148213 (GRCh38)
8:38005731 (GRCh37)
Canonical SPDI:: NC_000008.11:38148212:T:A
Gene:: STAR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
T=0.5/1 (SGDP_PRJ)
HGVS:: NC_000008.11:g.38148213T>A, NC_000008.10:g.38005731T>A, NG_011827.1:g.7870A>T, NM_000349.3:c.293A>T, NM_000349.2:c.293A>T, NM_001007243.1:c.293A>T, NP_000340.2:p.Lys98Met

Select item 14772803537.

rs1477280353 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:38145307 (GRCh38)
8:38002825 (GRCh37)
Canonical SPDI:: NC_000008.11:38145306:T:G
Gene:: STAR (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_000008.11:g.38145307T>G, NC_000008.10:g.38002825T>G, NG_011827.1:g.10776A>C, NM_000349.3:c.659A>C, NM_000349.2:c.659A>C, NM_001007243.1:c.605A>C, NP_000340.2:p.His220Pro

Select item 14753272638.

rs1475327263 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:38148266 (GRCh38)
8:38005784 (GRCh37)
Canonical SPDI:: NC_000008.11:38148265:C:T
Gene:: STAR (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.38148266C>T, NC_000008.10:g.38005784C>T, NG_011827.1:g.7817G>A, NM_000349.3:c.240G>A, NM_000349.2:c.240G>A, NM_001007243.1:c.240G>A

Select item 14708653939.

rs1470865393 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 8:38148745 (GRCh38)
8:38006263 (GRCh37)
Canonical SPDI:: NC_000008.11:38148744:T:A
Gene:: STAR (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.38148745T>A, NC_000008.10:g.38006263T>A, NG_011827.1:g.7338A>T, NM_000349.3:c.74A>T, NM_000349.2:c.74A>T, NM_001007243.1:c.74A>T, NP_000340.2:p.Gln25Leu

Select item 146766471910.

rs1467664719 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:38146430 (GRCh38)
8:38003948 (GRCh37)
Canonical SPDI:: NC_000008.11:38146429:C:T
Gene:: STAR (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign
HGVS:: NC_000008.11:g.38146430C>T, NC_000008.10:g.38003948C>T, NG_011827.1:g.9653G>A, NM_000349.3:c.324G>A, NM_000349.2:c.324G>A, NM_001007243.1:c.324G>A

Select item 146393345811.

rs1463933458 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:38146014 (GRCh38)
8:38003532 (GRCh37)
Canonical SPDI:: NC_000008.11:38146013:G:A
Gene:: STAR (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.38146014G>A, NC_000008.10:g.38003532G>A, NG_011827.1:g.10069C>T, NM_000349.3:c.599C>T, NM_000349.2:c.599C>T, NM_001007243.1:c.545C>T, NP_000340.2:p.Ala200Val

Select item 146209595812.

rs1462095958 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:38146342 (GRCh38)
8:38003860 (GRCh37)
Canonical SPDI:: NC_000008.11:38146341:C:T
Gene:: STAR (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000084/1 (ALFA)
T=0.000012/3 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
T=0.000026/7 (TOPMED)
HGVS:: NC_000008.11:g.38146342C>T, NC_000008.10:g.38003860C>T, NG_011827.1:g.9741G>A, NM_000349.3:c.412G>A, NM_000349.2:c.412G>A, NM_001007243.1:c.412G>A, NP_000340.2:p.Val138Met

Select item 146007793413.

rs1460077934 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:38145243 (GRCh38)
8:38002761 (GRCh37)
Canonical SPDI:: NC_000008.11:38145242:C:T
Gene:: STAR (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.38145243C>T, NC_000008.10:g.38002761C>T, NG_011827.1:g.10840G>A, NM_000349.3:c.723G>A, NM_000349.2:c.723G>A, NM_001007243.1:c.669G>A, NP_000340.2:p.Trp241Ter

Select item 145846504914.

rs1458465049 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:38146044 (GRCh38)
8:38003562 (GRCh37)
Canonical SPDI:: NC_000008.11:38146043:G:A
Gene:: STAR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000008.11:g.38146044G>A, NC_000008.10:g.38003562G>A, NG_011827.1:g.10039C>T, NM_000349.3:c.569C>T, NM_000349.2:c.569C>T, NM_001007243.1:c.515C>T, NP_000340.2:p.Ala190Val

Select item 145186218515.

rs1451862185 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:38146019 (GRCh38)
8:38003537 (GRCh37)
Canonical SPDI:: NC_000008.11:38146018:C:G
Gene:: STAR (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.38146019C>G, NC_000008.10:g.38003537C>G, NG_011827.1:g.10064G>C, NM_000349.3:c.594G>C, NM_000349.2:c.594G>C, NM_001007243.1:c.540G>C

Select item 144942324916.

rs1449423249 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 8:38146347 (GRCh38)
8:38003865 (GRCh37)
Canonical SPDI:: NC_000008.11:38146346:T:
Gene:: STAR (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.38146347del, NC_000008.10:g.38003865del, NG_011827.1:g.9736del, NM_000349.3:c.407del, NM_000349.2:c.407del, NM_001007243.1:c.407del, NP_000340.2:p.Glu136fs

Select item 144636221417.

rs1446362214 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:38145292 (GRCh38)
8:38002810 (GRCh37)
Canonical SPDI:: NC_000008.11:38145291:A:G
Gene:: STAR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000012/3 (GnomAD_exomes)
G=0.00003/8 (TOPMED)
G=0.000043/6 (GnomAD)
HGVS:: NC_000008.11:g.38145292A>G, NC_000008.10:g.38002810A>G, NG_011827.1:g.10791T>C, NM_000349.3:c.674T>C, NM_000349.2:c.674T>C, NM_001007243.1:c.620T>C, NP_000340.2:p.Met225Thr

Select item 144144688118.

rs1441446881 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:38148236 (GRCh38)
8:38005754 (GRCh37)
Canonical SPDI:: NC_000008.11:38148235:A:G
Gene:: STAR (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.0002/1 (ALFA)
G=0.0002/1 (Estonian)
HGVS:: NC_000008.11:g.38148236A>G, NC_000008.10:g.38005754A>G, NG_011827.1:g.7847T>C, NM_000349.3:c.270T>C, NM_000349.2:c.270T>C, NM_001007243.1:c.270T>C

Select item 144086000019.

rs1440860000 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:38145989 (GRCh38)
8:38003507 (GRCh37)
Canonical SPDI:: NC_000008.11:38145988:G:A
Gene:: STAR (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000008.11:g.38145989G>A, NC_000008.10:g.38003507G>A, NG_011827.1:g.10094C>T, NM_000349.3:c.624C>T, NM_000349.2:c.624C>T, NM_001007243.1:c.570C>T

Select item 143945142620.

rs1439451426 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:38148305 (GRCh38)
8:38005823 (GRCh37)
Canonical SPDI:: NC_000008.11:38148304:G:A
Gene:: STAR (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.38148305G>A, NC_000008.10:g.38005823G>A, NG_011827.1:g.7778C>T, NM_000349.3:c.201C>T, NM_000349.2:c.201C>T, NM_001007243.1:c.201C>T

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