SNP Links for Protein (Select 89363026) - SNP

Links from Protein

Items: 1 to 20 of 250

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Select item 14846684291.

rs1484668429 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:3781275 (GRCh38)
20:3761922 (GRCh37)
Canonical SPDI:: NC_000020.11:3781274:C:T
Gene:: SPEF1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000020.11:g.3781275C>T, NC_000020.10:g.3761922C>T, NG_060728.1:g.34C>T, NM_015417.5:c.13G>A, NM_015417.4:c.13G>A, NP_056232.2:p.Val5Met

Select item 14782708162.

rs1478270816 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 20:3778218 (GRCh38)
20:3758865 (GRCh37)
Canonical SPDI:: NC_000020.11:3778217:C:A
Gene:: SPEF1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.00001/2 (GnomAD_exomes)
HGVS:: NC_000020.11:g.3778218C>A, NC_000020.10:g.3758865C>A, NM_015417.5:c.705G>T, NM_015417.4:c.705G>T, NP_056232.2:p.Gln235His

Select item 14678537873.

rs1467853787 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:3779240 (GRCh38)
20:3759887 (GRCh37)
Canonical SPDI:: NC_000020.11:3779239:C:T
Gene:: SPEF1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000020.11:g.3779240C>T, NC_000020.10:g.3759887C>T, NM_015417.5:c.334G>A, NM_015417.4:c.334G>A, NP_056232.2:p.Glu112Lys

Select item 14672893934.

rs1467289393 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:3778512 (GRCh38)
20:3759159 (GRCh37)
Canonical SPDI:: NC_000020.11:3778511:G:A
Gene:: SPEF1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000020.11:g.3778512G>A, NC_000020.10:g.3759159G>A, NM_015417.5:c.512C>T, NM_015417.4:c.512C>T, NP_056232.2:p.Ala171Val

Select item 14616421385.

rs1461642138 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:3778787 (GRCh38)
20:3759434 (GRCh37)
Canonical SPDI:: NC_000020.11:3778786:T:C
Gene:: SPEF1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.3778787T>C, NC_000020.10:g.3759434T>C, NM_015417.5:c.438A>G, NM_015417.4:c.438A>G

Select item 14612225166.

rs1461222516 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:3779263 (GRCh38)
20:3759910 (GRCh37)
Canonical SPDI:: NC_000020.11:3779262:A:G
Gene:: SPEF1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.00005/1 (ALFA)
HGVS:: NC_000020.11:g.3779263A>G, NC_000020.10:g.3759910A>G, NM_015417.5:c.311T>C, NM_015417.4:c.311T>C, NP_056232.2:p.Leu104Pro

Select item 14584548037.

rs1458454803 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:3778799 (GRCh38)
20:3759446 (GRCh37)
Canonical SPDI:: NC_000020.11:3778798:G:T
Gene:: SPEF1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.3778799G>T, NC_000020.10:g.3759446G>T, NM_015417.5:c.426C>A, NM_015417.4:c.426C>A

Select item 14514074398.

rs1451407439 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 20:3778263 (GRCh38)
20:3758910 (GRCh37)
Canonical SPDI:: NC_000020.11:3778262:C:G,NC_000020.11:3778262:C:T
Gene:: SPEF1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000020.11:g.3778263C>G, NC_000020.11:g.3778263C>T, NC_000020.10:g.3758910C>G, NC_000020.10:g.3758910C>T, NM_015417.5:c.660G>C, NM_015417.5:c.660G>A, NM_015417.4:c.660G>C, NM_015417.4:c.660G>A

Select item 14478244729.

rs1447824472 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:3778761 (GRCh38)
20:3759408 (GRCh37)
Canonical SPDI:: NC_000020.11:3778760:C:G
Gene:: SPEF1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.3778761C>G, NC_000020.10:g.3759408C>G, NM_015417.5:c.464G>C, NM_015417.4:c.464G>C, NP_056232.2:p.Gly155Ala

Select item 144739060010.

rs1447390600 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:3779738 (GRCh38)
20:3760385 (GRCh37)
Canonical SPDI:: NC_000020.11:3779737:C:G
Gene:: SPEF1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000020.11:g.3779738C>G, NC_000020.10:g.3760385C>G, NM_015417.5:c.147G>C, NM_015417.4:c.147G>C, NP_056232.2:p.Lys49Asn

Select item 144430333611.

rs1444303336 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:3779726 (GRCh38)
20:3760373 (GRCh37)
Canonical SPDI:: NC_000020.11:3779725:C:T
Gene:: SPEF1 (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=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.3779726C>T, NC_000020.10:g.3760373C>T, NM_015417.5:c.159G>A, NM_015417.4:c.159G>A, NP_056232.2:p.Met53Ile

Select item 143342470412.

rs1433424704 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 20:3778970 (GRCh38)
20:3759617 (GRCh37)
Canonical SPDI:: NC_000020.11:3778969:G:A,NC_000020.11:3778969:G:T
Gene:: SPEF1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000020.11:g.3778970G>A, NC_000020.11:g.3778970G>T, NC_000020.10:g.3759617G>A, NC_000020.10:g.3759617G>T, NM_015417.5:c.399C>T, NM_015417.5:c.399C>A, NM_015417.4:c.399C>T, NM_015417.4:c.399C>A

Select item 143309322413.

rs1433093224 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:3778221 (GRCh38)
20:3758868 (GRCh37)
Canonical SPDI:: NC_000020.11:3778220:C:T
Gene:: SPEF1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000020.11:g.3778221C>T, NC_000020.10:g.3758868C>T, NM_015417.5:c.702G>A, NM_015417.4:c.702G>A

Select item 142255552514.

rs1422555525 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:3778501 (GRCh38)
20:3759148 (GRCh37)
Canonical SPDI:: NC_000020.11:3778500:C:G
Gene:: SPEF1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.3778501C>G, NC_000020.10:g.3759148C>G, NM_015417.5:c.523G>C, NM_015417.4:c.523G>C, NP_056232.2:p.Ala175Pro

Select item 142166364915.

rs1421663649 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:3778293 (GRCh38)
20:3758940 (GRCh37)
Canonical SPDI:: NC_000020.11:3778292:C:G
Gene:: SPEF1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.3778293C>G, NC_000020.10:g.3758940C>G, NM_015417.5:c.630G>C, NM_015417.4:c.630G>C

Select item 141991748516.

rs1419917485 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:3781209 (GRCh38)
20:3761856 (GRCh37)
Canonical SPDI:: NC_000020.11:3781208:G:T
Gene:: SPEF1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000020.11:g.3781209G>T, NC_000020.10:g.3761856G>T, NM_015417.5:c.79C>A, NM_015417.4:c.79C>A

Select item 141666375617.

rs1416663756 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:3779287 (GRCh38)
20:3759934 (GRCh37)
Canonical SPDI:: NC_000020.11:3779286:G:A
Gene:: SPEF1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.3779287G>A, NC_000020.10:g.3759934G>A, NM_015417.5:c.287C>T, NM_015417.4:c.287C>T, NP_056232.2:p.Ala96Val

Select item 141608985618.

rs1416089856 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:3779319 (GRCh38)
20:3759966 (GRCh37)
Canonical SPDI:: NC_000020.11:3779318:C:T
Gene:: SPEF1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.3779319C>T, NC_000020.10:g.3759966C>T, NM_015417.5:c.255G>A, NM_015417.4:c.255G>A

Select item 141600498019.

rs1416004980 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 20:3779668 (GRCh38)
20:3760315 (GRCh37)
Canonical SPDI:: NC_000020.11:3779667:T:A
Gene:: SPEF1 (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_000020.11:g.3779668T>A, NC_000020.10:g.3760315T>A, NM_015417.5:c.217A>T, NM_015417.4:c.217A>T, NP_056232.2:p.Asn73Tyr

Select item 141584979120.

rs1415849791 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 20:3778486 (GRCh38)
20:3759133 (GRCh37)
Canonical SPDI:: NC_000020.11:3778485:G:A,NC_000020.11:3778485:G:T
Gene:: SPEF1 (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_000020.11:g.3778486G>A, NC_000020.11:g.3778486G>T, NC_000020.10:g.3759133G>A, NC_000020.10:g.3759133G>T, NM_015417.5:c.538C>T, NM_015417.5:c.538C>A, NM_015417.4:c.538C>T, NM_015417.4:c.538C>A, NP_056232.2:p.Pro180Ser, NP_056232.2:p.Pro180Thr

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