SNP Links for Protein (Select 296317236) - SNP

Links from Protein

Items: 1 to 20 of 73

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Select item 14588918131.

rs1458891813 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:150795503 (GRCh38)
5:150175065 (GRCh37)
Canonical SPDI:: NC_000005.10:150795502:G:A
Gene:: SMIM3 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.150795503G>A, NC_000005.9:g.150175065G>A, NM_032947.5:c.63G>A, NM_032947.4:c.63G>A, NP_116565.3:p.Trp21Ter

Select item 14578257442.

rs1457825744 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:150795572 (GRCh38)
5:150175134 (GRCh37)
Canonical SPDI:: NC_000005.10:150795571:A:C
Gene:: SMIM3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000009/2 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.150795572A>C, NC_000005.9:g.150175134A>C, NM_032947.5:c.132A>C, NM_032947.4:c.132A>C

Select item 14445967883.

rs1444596788 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 5:150795613 (GRCh38)
5:150175175 (GRCh37)
Canonical SPDI:: NC_000005.10:150795612:G:A,NC_000005.10:150795612:G:T
Gene:: SMIM3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000006/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.150795613G>A, NC_000005.10:g.150795613G>T, NC_000005.9:g.150175175G>A, NC_000005.9:g.150175175G>T, NM_032947.5:c.173G>A, NM_032947.5:c.173G>T, NM_032947.4:c.173G>A, NM_032947.4:c.173G>T, NP_116565.3:p.Gly58Glu, NP_116565.3:p.Gly58Val

Select item 14279753694.

rs1427975369 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:150795621 (GRCh38)
5:150175183 (GRCh37)
Canonical SPDI:: NC_000005.10:150795620:T:C
Gene:: SMIM3 (Varview)
Functional Consequence:: terminator_codon_variant,stop_lost
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.150795621T>C, NC_000005.9:g.150175183T>C, NM_032947.5:c.181T>C, NM_032947.4:c.181T>C, NP_116565.3:p.Ter61Arg

Select item 14263285605.

rs1426328560 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 5:150795529 (GRCh38)
5:150175091 (GRCh37)
Canonical SPDI:: NC_000005.10:150795528:CC:C
Gene:: SMIM3 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.150795530del, NC_000005.9:g.150175092del, NM_032947.5:c.90del, NM_032947.4:c.90del, NP_116565.3:p.Ile31fs

Select item 14235237706.

rs1423523770 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 5:150795525 (GRCh38)
5:150175087 (GRCh37)
Canonical SPDI:: NC_000005.10:150795524:G:A,NC_000005.10:150795524:G:T
Gene:: SMIM3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000342/1 (KOREAN)
HGVS:: NC_000005.10:g.150795525G>A, NC_000005.10:g.150795525G>T, NC_000005.9:g.150175087G>A, NC_000005.9:g.150175087G>T, NM_032947.5:c.85G>A, NM_032947.5:c.85G>T, NM_032947.4:c.85G>A, NM_032947.4:c.85G>T, NP_116565.3:p.Ala29Thr, NP_116565.3:p.Ala29Ser

Select item 13921204607.

rs1392120460 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:150795616 (GRCh38)
5:150175178 (GRCh37)
Canonical SPDI:: NC_000005.10:150795615:C:T
Gene:: SMIM3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000013/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.150795616C>T, NC_000005.9:g.150175178C>T, NM_032947.5:c.176C>T, NM_032947.4:c.176C>T, NP_116565.3:p.Ala59Val

Select item 13655987668.

rs1365598766 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:150795507 (GRCh38)
5:150175069 (GRCh37)
Canonical SPDI:: NC_000005.10:150795506:A:G
Gene:: SMIM3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.150795507A>G, NC_000005.9:g.150175069A>G, NM_032947.5:c.67A>G, NM_032947.4:c.67A>G, NP_116565.3:p.Ile23Val

Select item 13651504769.

rs1365150476 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:150795446 (GRCh38)
5:150175008 (GRCh37)
Canonical SPDI:: NC_000005.10:150795445:T:C
Gene:: SMIM3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.150795446T>C, NC_000005.9:g.150175008T>C, NM_032947.5:c.6T>C, NM_032947.4:c.6T>C

Select item 132425106810.

rs1324251068 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:150795578 (GRCh38)
5:150175140 (GRCh37)
Canonical SPDI:: NC_000005.10:150795577:C:T
Gene:: SMIM3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000005.10:g.150795578C>T, NC_000005.9:g.150175140C>T, NM_032947.5:c.138C>T, NM_032947.4:c.138C>T

Select item 130874019211.

rs1308740192 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:150795574 (GRCh38)
5:150175136 (GRCh37)
Canonical SPDI:: NC_000005.10:150795573:T:G
Gene:: SMIM3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000005/1 (GnomAD_exomes)
G=0.000029/4 (GnomAD)
G=0.000102/27 (TOPMED)
HGVS:: NC_000005.10:g.150795574T>G, NC_000005.9:g.150175136T>G, NM_032947.5:c.134T>G, NM_032947.4:c.134T>G, NP_116565.3:p.Val45Gly

Select item 130352931512.

rs1303529315 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:150795454 (GRCh38)
5:150175016 (GRCh37)
Canonical SPDI:: NC_000005.10:150795453:G:A
Gene:: SMIM3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.150795454G>A, NC_000005.9:g.150175016G>A, NM_032947.5:c.14G>A, NM_032947.4:c.14G>A, NP_116565.3:p.Ser5Asn

Select item 127627848313.

rs1276278483 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:150795562 (GRCh38)
5:150175124 (GRCh37)
Canonical SPDI:: NC_000005.10:150795561:C:T
Gene:: SMIM3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000005.10:g.150795562C>T, NC_000005.9:g.150175124C>T, NM_032947.5:c.122C>T, NM_032947.4:c.122C>T, NP_116565.3:p.Pro41Leu

Select item 126721312614.

rs1267213126 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:150795539 (GRCh38)
5:150175101 (GRCh37)
Canonical SPDI:: NC_000005.10:150795538:C:G
Gene:: SMIM3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.150795539C>G, NC_000005.9:g.150175101C>G, NM_032947.5:c.99C>G, NM_032947.4:c.99C>G, NP_116565.3:p.Ile33Met

Select item 123200894515.

rs1232008945 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 5:150795602 (GRCh38)
5:150175164 (GRCh37)
Canonical SPDI:: NC_000005.10:150795601:G:A,NC_000005.10:150795601:G:T
Gene:: SMIM3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.150795602G>A, NC_000005.10:g.150795602G>T, NC_000005.9:g.150175164G>A, NC_000005.9:g.150175164G>T, NM_032947.5:c.162G>A, NM_032947.5:c.162G>T, NM_032947.4:c.162G>A, NM_032947.4:c.162G>T

Select item 121449374116.

rs1214493741 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:150795463 (GRCh38)
5:150175025 (GRCh37)
Canonical SPDI:: NC_000005.10:150795462:C:G
Gene:: SMIM3 (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_000005.10:g.150795463C>G, NC_000005.9:g.150175025C>G, NM_032947.5:c.23C>G, NM_032947.4:c.23C>G, NP_116565.3:p.Pro8Arg

Select item 119752956317.

rs1197529563 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGATATCTGGGTTATTGTCCT>- [Show Flanks]
Chromosome:: 5:150795494 (GRCh38)
5:150175056 (GRCh37)
Canonical SPDI:: NC_000005.10:150795489:TCCTGGATATCTGGGTTATTGTCCT:TCCT
Gene:: SMIM3 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.150795494_150795514del, NC_000005.9:g.150175056_150175076del, NM_032947.5:c.54_74del, NM_032947.4:c.54_74del, NP_116565.3:p.Asp19_Leu25del

Select item 119166637618.

rs1191666376 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:150795483 (GRCh38)
5:150175045 (GRCh37)
Canonical SPDI:: NC_000005.10:150795482:A:G
Gene:: SMIM3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.150795483A>G, NC_000005.9:g.150175045A>G, NM_032947.5:c.43A>G, NM_032947.4:c.43A>G, NP_116565.3:p.Lys15Glu

Select item 118528672719.

rs1185286727 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:150795612 (GRCh38)
5:150175174 (GRCh37)
Canonical SPDI:: NC_000005.10:150795611:G:A
Gene:: SMIM3 (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_000005.10:g.150795612G>A, NC_000005.9:g.150175174G>A, NM_032947.5:c.172G>A, NM_032947.4:c.172G>A, NP_116565.3:p.Gly58Arg

Select item 116971369620.

rs1169713696 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:150795614 (GRCh38)
5:150175176 (GRCh37)
Canonical SPDI:: NC_000005.10:150795613:G:A
Gene:: SMIM3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.150795614G>A, NC_000005.9:g.150175176G>A, NM_032947.5:c.174G>A, NM_032947.4:c.174G>A

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