SNP Links for Protein (Select 20070125) - SNP

Links from Protein

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Select item 14908930641.

rs1490893064 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:81846467 (GRCh38)
17:79804343 (GRCh37)
Canonical SPDI:: NC_000017.11:81846466:T:C
Gene:: P4HB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.81846467T>C, NC_000017.10:g.79804343T>C, NG_042033.1:g.19202A>G, NM_000918.4:c.1018A>G, NM_000918.3:c.1018A>G, NP_000909.2:p.Thr340Ala

Select item 14908826302.

rs1490882630 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:81845652 (GRCh38)
17:79803528 (GRCh37)
Canonical SPDI:: NC_000017.11:81845651:G:C
Gene:: P4HB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.81845652G>C, NC_000017.10:g.79803528G>C, NG_042033.1:g.20017C>G, NM_000918.4:c.1268C>G, NM_000918.3:c.1268C>G, NP_000909.2:p.Ala423Gly

Select item 14897490073.

rs1489749007 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:81845948 (GRCh38)
17:79803824 (GRCh37)
Canonical SPDI:: NC_000017.11:81845947:T:A
Gene:: P4HB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.81845948T>A, NC_000017.10:g.79803824T>A, NG_042033.1:g.19721A>T, NM_000918.4:c.1100A>T, NM_000918.3:c.1100A>T, NP_000909.2:p.Gln367Leu

Select item 14887508784.

rs1488750878 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:81845931 (GRCh38)
17:79803807 (GRCh37)
Canonical SPDI:: NC_000017.11:81845930:C:A
Gene:: P4HB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000017.11:g.81845931C>A, NC_000017.10:g.79803807C>A, NG_042033.1:g.19738G>T, NM_000918.4:c.1117G>T, NM_000918.3:c.1117G>T, NP_000909.2:p.Val373Phe

Select item 14877432635.

rs1487743263 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:81844027 (GRCh38)
17:79801903 (GRCh37)
Canonical SPDI:: NC_000017.11:81844026:C:T
Gene:: P4HB (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000017.11:g.81844027C>T, NC_000017.10:g.79801903C>T, NG_042033.1:g.21642G>A, NM_000918.4:c.1512G>A, NM_000918.3:c.1512G>A

Select item 14864717566.

rs1486471756 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:81847071 (GRCh38)
17:79804947 (GRCh37)
Canonical SPDI:: NC_000017.11:81847070:G:A
Gene:: P4HB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.81847071G>A, NC_000017.10:g.79804947G>A, NG_042033.1:g.18598C>T, NM_000918.4:c.731C>T, NM_000918.3:c.731C>T, NP_000909.2:p.Thr244Ile

Select item 14858258377.

rs1485825837 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:81855533 (GRCh38)
17:79813409 (GRCh37)
Canonical SPDI:: NC_000017.11:81855532:C:T
Gene:: P4HB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000017.11:g.81855533C>T, NC_000017.10:g.79813409C>T, NG_042033.1:g.10136G>A, NM_000918.4:c.406G>A, NM_000918.3:c.406G>A, NP_000909.2:p.Ala136Thr

Select item 14848046388.

rs1484804638 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 17:81844019 (GRCh38)
17:79801896 (GRCh37)
Canonical SPDI:: NC_000017.11:81844019:C:CC
Gene:: P4HB (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.81844020dup, NC_000017.10:g.79801896dup, NG_042033.1:g.21649dup, NM_000918.4:c.1519dup, NM_000918.3:c.1519dup, NP_000909.2:p.Glu507fs

Select item 14845197459.

rs1484519745 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:81860411 (GRCh38)
17:79818287 (GRCh37)
Canonical SPDI:: NC_000017.11:81860410:C:T
Gene:: P4HB (Varview), LOC124904086 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000015/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.81860411C>T, NC_000017.10:g.79818287C>T, NG_042033.1:g.5258G>A, NM_000918.4:c.61G>A, NM_000918.3:c.61G>A, NP_000909.2:p.Glu21Lys

Select item 148404898710.

rs1484048987 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:81860423 (GRCh38)
17:79818299 (GRCh37)
Canonical SPDI:: NC_000017.11:81860422:C:T
Gene:: P4HB (Varview), LOC124904086 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000017.11:g.81860423C>T, NC_000017.10:g.79818299C>T, NG_042033.1:g.5246G>A, NM_000918.4:c.49G>A, NM_000918.3:c.49G>A, NP_000909.2:p.Ala17Thr

Select item 148132926911.

rs1481329269 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:81845897 (GRCh38)
17:79803773 (GRCh37)
Canonical SPDI:: NC_000017.11:81845896:T:A
Gene:: P4HB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000017.11:g.81845897T>A, NC_000017.10:g.79803773T>A, NG_042033.1:g.19772A>T, NM_000918.4:c.1151A>T, NM_000918.3:c.1151A>T, NP_000909.2:p.Glu384Val

Select item 148044520112.

rs1480445201 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:81860449 (GRCh38)
17:79818325 (GRCh37)
Canonical SPDI:: NC_000017.11:81860448:C:T
Gene:: P4HB (Varview), LOC124904086 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000017.11:g.81860449C>T, NC_000017.10:g.79818325C>T, NG_042033.1:g.5220G>A, NM_000918.4:c.23G>A, NM_000918.3:c.23G>A, NP_000909.2:p.Cys8Tyr

Select item 147702413013.

rs1477024130 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:81846507 (GRCh38)
17:79804383 (GRCh37)
Canonical SPDI:: NC_000017.11:81846506:C:T
Gene:: P4HB (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
T=0.000034/9 (TOPMED)
HGVS:: NC_000017.11:g.81846507C>T, NC_000017.10:g.79804383C>T, NG_042033.1:g.19162G>A, NM_000918.4:c.978G>A, NM_000918.3:c.978G>A

Select item 147549210814.

rs1475492108 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:81847319 (GRCh38)
17:79805195 (GRCh37)
Canonical SPDI:: NC_000017.11:81847318:C:T
Gene:: P4HB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.81847319C>T, NC_000017.10:g.79805195C>T, NG_042033.1:g.18350G>A, NM_000918.4:c.653G>A, NM_000918.3:c.653G>A, NP_000909.2:p.Gly218Glu

Select item 147454673815.

rs1474546738 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:81860428 (GRCh38)
17:79818304 (GRCh37)
Canonical SPDI:: NC_000017.11:81860427:A:C
Gene:: P4HB (Varview), LOC124904086 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.00002/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.81860428A>C, NC_000017.10:g.79818304A>C, NG_042033.1:g.5241T>G, NM_000918.4:c.44T>G, NM_000918.3:c.44T>G, NP_000909.2:p.Val15Gly

Select item 147228555716.

rs1472285557 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:81847293 (GRCh38)
17:79805169 (GRCh37)
Canonical SPDI:: NC_000017.11:81847292:C:T
Gene:: P4HB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.81847293C>T, NC_000017.10:g.79805169C>T, NG_042033.1:g.18376G>A, NM_000918.4:c.679G>A, NM_000918.3:c.679G>A, NP_000909.2:p.Asp227Asn

Select item 147094662717.

rs1470946627 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:81847247 (GRCh38)
17:79805123 (GRCh37)
Canonical SPDI:: NC_000017.11:81847246:T:C
Gene:: P4HB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.81847247T>C, NC_000017.10:g.79805123T>C, NG_042033.1:g.18422A>G, NM_000918.4:c.725A>G, NM_000918.3:c.725A>G, NP_000909.2:p.Glu242Gly

Select item 146668411818.

rs1466684118 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:81845209 (GRCh38)
17:79803085 (GRCh37)
Canonical SPDI:: NC_000017.11:81845208:G:A
Gene:: P4HB (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)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.81845209G>A, NC_000017.10:g.79803085G>A, NG_042033.1:g.20460C>T, NM_000918.4:c.1381C>T, NM_000918.3:c.1381C>T, NP_000909.2:p.Arg461Cys

Select item 146540989519.

rs1465409895 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:81855554 (GRCh38)
17:79813430 (GRCh37)
Canonical SPDI:: NC_000017.11:81855553:G:A
Gene:: P4HB (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.81855554G>A, NC_000017.10:g.79813430G>A, NG_042033.1:g.10115C>T, NM_000918.4:c.385C>T, NM_000918.3:c.385C>T

Select item 146510676020.

rs1465106760 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:81845692 (GRCh38)
17:79803568 (GRCh37)
Canonical SPDI:: NC_000017.11:81845691:G:A
Gene:: P4HB (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.81845692G>A, NC_000017.10:g.79803568G>A, NG_042033.1:g.19977C>T, NM_000918.4:c.1228C>T, NM_000918.3:c.1228C>T

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