SNP Links for Protein (Select 530422196) - SNP

Links from Protein

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Select item 14872548621.

rs1487254862 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: X:85379262 (GRCh38)
X:84634267 (GRCh37)
Canonical SPDI:: NC_000023.11:85379261:C:A,NC_000023.11:85379261:C:T
Gene:: POF1B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
A=0.000005/1 (GnomAD_exomes)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.85379262C>A, NC_000023.11:g.85379262C>T, NC_000023.10:g.84634267C>A, NC_000023.10:g.84634267C>T, NG_016358.2:g.5403G>T, NG_016358.2:g.5403G>A, NG_016358.1:g.5482G>T, NG_016358.1:g.5482G>A, NM_024921.4:c.193G>T, NM_024921.4:c.193G>A, NM_024921.3:c.193G>T, NM_024921.3:c.193G>A, NM_001307940.2:c.193G>T, NM_001307940.2:c.193G>A, NM_001307940.1:c.193G>T, NM_001307940.1:c.193G>A, XM_005262203.5:c.193G>T, XM_005262203.5:c.193G>A, XM_005262203.4:c.193G>T, XM_005262203.4:c.193G>A, XM_005262203.3:c.193G>T, XM_005262203.3:c.193G>A, XM_005262203.2:c.193G>T, XM_005262203.2:c.193G>A, XM_005262203.1:c.193G>T, XM_005262203.1:c.193G>A, NP_079197.3:p.Ala65Ser, NP_079197.3:p.Ala65Thr, NP_001294869.1:p.Ala65Ser, NP_001294869.1:p.Ala65Thr, XP_005262260.1:p.Ala65Ser, XP_005262260.1:p.Ala65Thr

Select item 14859485362.

rs1485948536 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:85306319 (GRCh38)
X:84561325 (GRCh37)
Canonical SPDI:: NC_000023.11:85306318:G:T
Gene:: POF1B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.85306319G>T, NC_000023.10:g.84561325G>T, NG_016358.2:g.78346C>A, NG_016358.1:g.78424C>A, NM_024921.4:c.1179C>A, NM_024921.3:c.1179C>A, NM_001307940.2:c.1179C>A, NM_001307940.1:c.1179C>A, XM_005262203.5:c.1134C>A, XM_005262203.4:c.1134C>A, XM_005262203.3:c.1134C>A, XM_005262203.2:c.1134C>A, XM_005262203.1:c.1134C>A, NP_079197.3:p.Asp393Glu, NP_001294869.1:p.Asp393Glu, XP_005262260.1:p.Asp378Glu

Select item 14819900083.

rs1481990008 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:85351365 (GRCh38)
X:84606371 (GRCh37)
Canonical SPDI:: NC_000023.11:85351364:C:T
Gene:: POF1B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.85351365C>T, NC_000023.10:g.84606371C>T, NG_016358.2:g.33300G>A, NG_016358.1:g.33378G>A, NM_024921.4:c.525G>A, NM_024921.3:c.525G>A, NM_001307940.2:c.525G>A, NM_001307940.1:c.525G>A, XM_005262203.5:c.525G>A, XM_005262203.4:c.525G>A, XM_005262203.3:c.525G>A, XM_005262203.2:c.525G>A, XM_005262203.1:c.525G>A

Select item 14815616814.

rs1481561681 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:85331023 (GRCh38)
X:84586029 (GRCh37)
Canonical SPDI:: NC_000023.11:85331022:C:T
Gene:: POF1B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.85331023C>T, NC_000023.10:g.84586029C>T, NG_016358.2:g.53642G>A, NG_016358.1:g.53720G>A, NM_024921.4:c.780G>A, NM_024921.3:c.780G>A, NM_001307940.2:c.780G>A, NM_001307940.1:c.780G>A, XM_005262203.5:c.735G>A, XM_005262203.4:c.735G>A, XM_005262203.3:c.735G>A, XM_005262203.2:c.735G>A, XM_005262203.1:c.735G>A

Select item 14797261945.

rs1479726194 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:85330984 (GRCh38)
X:84585990 (GRCh37)
Canonical SPDI:: NC_000023.11:85330983:G:A
Gene:: POF1B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000023.11:g.85330984G>A, NC_000023.10:g.84585990G>A, NG_016358.2:g.53681C>T, NG_016358.1:g.53759C>T, NM_024921.4:c.819C>T, NM_024921.3:c.819C>T, NM_001307940.2:c.819C>T, NM_001307940.1:c.819C>T, XM_005262203.5:c.774C>T, XM_005262203.4:c.774C>T, XM_005262203.3:c.774C>T, XM_005262203.2:c.774C>T, XM_005262203.1:c.774C>T

Select item 14781569616.

rs1478156961 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:85306264 (GRCh38)
X:84561270 (GRCh37)
Canonical SPDI:: NC_000023.11:85306263:G:A
Gene:: POF1B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.85306264G>A, NC_000023.10:g.84561270G>A, NG_016358.2:g.78401C>T, NG_016358.1:g.78479C>T, NM_024921.4:c.1234C>T, NM_024921.3:c.1234C>T, NM_001307940.2:c.1234C>T, NM_001307940.1:c.1234C>T, XM_005262203.5:c.1189C>T, XM_005262203.4:c.1189C>T, XM_005262203.3:c.1189C>T, XM_005262203.2:c.1189C>T, XM_005262203.1:c.1189C>T

Select item 14771143337.

rs1477114333 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:85379316 (GRCh38)
X:84634321 (GRCh37)
Canonical SPDI:: NC_000023.11:85379315:C:T
Gene:: POF1B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.85379316C>T, NC_000023.10:g.84634321C>T, NG_016358.2:g.5349G>A, NG_016358.1:g.5428G>A, NM_024921.4:c.139G>A, NM_024921.3:c.139G>A, NM_001307940.2:c.139G>A, NM_001307940.1:c.139G>A, XM_005262203.5:c.139G>A, XM_005262203.4:c.139G>A, XM_005262203.3:c.139G>A, XM_005262203.2:c.139G>A, XM_005262203.1:c.139G>A, NP_079197.3:p.Val47Ile, NP_001294869.1:p.Val47Ile, XP_005262260.1:p.Val47Ile

Select item 14744387928.

rs1474438792 [Homo sapiens]

Variant type:: DEL
Alleles:: TAGGA>- [Show Flanks]
Chromosome:: X:85351431 (GRCh38)
X:84606437 (GRCh37)
Canonical SPDI:: NC_000023.11:85351430:TAGGA:
Gene:: POF1B (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.85351431_85351435del, NC_000023.10:g.84606437_84606441del, NG_016358.2:g.33230_33234del, NG_016358.1:g.33308_33312del, NM_024921.4:c.455_459del, NM_024921.3:c.455_459del, NM_001307940.2:c.455_459del, NM_001307940.1:c.455_459del, XM_005262203.5:c.455_459del, XM_005262203.4:c.455_459del, XM_005262203.3:c.455_459del, XM_005262203.2:c.455_459del, XM_005262203.1:c.455_459del, NP_079197.3:p.Gln151_Phe152insTer, NP_001294869.1:p.Gln151_Phe152insTer, XP_005262260.1:p.Gln151_Phe152insTer

Select item 14710716299.

rs1471071629 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:85351403 (GRCh38)
X:84606409 (GRCh37)
Canonical SPDI:: NC_000023.11:85351402:T:G
Gene:: POF1B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000084/1 (ALFA)
G=0.000008/2 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.85351403T>G, NC_000023.10:g.84606409T>G, NG_016358.2:g.33262A>C, NG_016358.1:g.33340A>C, NM_024921.4:c.487A>C, NM_024921.3:c.487A>C, NM_001307940.2:c.487A>C, NM_001307940.1:c.487A>C, XM_005262203.5:c.487A>C, XM_005262203.4:c.487A>C, XM_005262203.3:c.487A>C, XM_005262203.2:c.487A>C, XM_005262203.1:c.487A>C, NP_079197.3:p.Asn163His, NP_001294869.1:p.Asn163His, XP_005262260.1:p.Asn163His

Select item 146940213710.

rs1469402137 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:85379363 (GRCh38)
X:84634368 (GRCh37)
Canonical SPDI:: NC_000023.11:85379362:T:C
Gene:: POF1B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000011/2 (GnomAD_exomes)
HGVS:: NC_000023.11:g.85379363T>C, NC_000023.10:g.84634368T>C, NG_016358.2:g.5302A>G, NG_016358.1:g.5381A>G, NM_024921.4:c.92A>G, NM_024921.3:c.92A>G, NM_001307940.2:c.92A>G, NM_001307940.1:c.92A>G, XM_005262203.5:c.92A>G, XM_005262203.4:c.92A>G, XM_005262203.3:c.92A>G, XM_005262203.2:c.92A>G, XM_005262203.1:c.92A>G, NP_079197.3:p.His31Arg, NP_001294869.1:p.His31Arg, XP_005262260.1:p.His31Arg

Select item 146870095811.

rs1468700958 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:85303476 (GRCh38)
X:84558482 (GRCh37)
Canonical SPDI:: NC_000023.11:85303475:A:G
Gene:: POF1B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.85303476A>G, NC_000023.10:g.84558482A>G, NG_016358.2:g.81189T>C, NG_016358.1:g.81267T>C, NM_024921.4:c.1579T>C, NM_024921.3:c.1579T>C, NM_001307940.2:c.1579T>C, NM_001307940.1:c.1579T>C, XM_005262203.5:c.1534T>C, XM_005262203.4:c.1534T>C, XM_005262203.3:c.1534T>C, XM_005262203.2:c.1534T>C, XM_005262203.1:c.1534T>C

Select item 146846724812.

rs1468467248 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:85307196 (GRCh38)
X:84562202 (GRCh37)
Canonical SPDI:: NC_000023.11:85307195:C:G
Gene:: POF1B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.85307196C>G, NC_000023.10:g.84562202C>G, NG_016358.2:g.77469G>C, NG_016358.1:g.77547G>C, NM_024921.4:c.1131G>C, NM_024921.3:c.1131G>C, NM_001307940.2:c.1131G>C, NM_001307940.1:c.1131G>C, XM_005262203.5:c.1086G>C, XM_005262203.4:c.1086G>C, XM_005262203.3:c.1086G>C, XM_005262203.2:c.1086G>C, XM_005262203.1:c.1086G>C, NP_079197.3:p.Leu377Phe, NP_001294869.1:p.Leu377Phe, XP_005262260.1:p.Leu362Phe

Select item 146728298913.

rs1467282989 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:85379216 (GRCh38)
X:84634221 (GRCh37)
Canonical SPDI:: NC_000023.11:85379215:G:A
Gene:: POF1B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.85379216G>A, NC_000023.10:g.84634221G>A, NG_016358.2:g.5449C>T, NG_016358.1:g.5528C>T, NM_024921.4:c.239C>T, NM_024921.3:c.239C>T, NM_001307940.2:c.239C>T, NM_001307940.1:c.239C>T, XM_005262203.5:c.239C>T, XM_005262203.4:c.239C>T, XM_005262203.3:c.239C>T, XM_005262203.2:c.239C>T, XM_005262203.1:c.239C>T, NP_079197.3:p.Thr80Ile, NP_001294869.1:p.Thr80Ile, XP_005262260.1:p.Thr80Ile

Select item 146584392014.

rs1465843920 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:85282310 (GRCh38)
X:84537316 (GRCh37)
Canonical SPDI:: NC_000023.11:85282309:T:C
Gene:: POF1B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.85282310T>C, NC_000023.10:g.84537316T>C, NG_016358.2:g.102355A>G, NG_016358.1:g.102433A>G, NM_024921.4:c.1657A>G, NM_024921.3:c.1657A>G, NM_001307940.2:c.1657A>G, NM_001307940.1:c.1657A>G, XM_005262203.5:c.1612A>G, XM_005262203.4:c.1612A>G, XM_005262203.3:c.1612A>G, XM_005262203.2:c.1612A>G, XM_005262203.1:c.1612A>G, NP_079197.3:p.Thr553Ala, NP_001294869.1:p.Thr553Ala, XP_005262260.1:p.Thr538Ala

Select item 146172679115.

rs1461726791 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:85306225 (GRCh38)
X:84561231 (GRCh37)
Canonical SPDI:: NC_000023.11:85306224:A:G
Gene:: POF1B (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_000023.11:g.85306225A>G, NC_000023.10:g.84561231A>G, NG_016358.2:g.78440T>C, NG_016358.1:g.78518T>C, NM_024921.4:c.1273T>C, NM_024921.3:c.1273T>C, NM_001307940.2:c.1273T>C, NM_001307940.1:c.1273T>C, XM_005262203.5:c.1228T>C, XM_005262203.4:c.1228T>C, XM_005262203.3:c.1228T>C, XM_005262203.2:c.1228T>C, XM_005262203.1:c.1228T>C, NP_079197.3:p.Cys425Arg, NP_001294869.1:p.Cys425Arg, XP_005262260.1:p.Cys410Arg

Select item 146160690516.

rs1461606905 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:85303439 (GRCh38)
X:84558445 (GRCh37)
Canonical SPDI:: NC_000023.11:85303438:G:C
Gene:: POF1B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (GnomAD)
C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.85303439G>C, NC_000023.10:g.84558445G>C, NG_016358.2:g.81226C>G, NG_016358.1:g.81304C>G, NM_024921.4:c.1616C>G, NM_024921.3:c.1616C>G, NM_001307940.2:c.1616C>G, NM_001307940.1:c.1616C>G, XM_005262203.5:c.1571C>G, XM_005262203.4:c.1571C>G, XM_005262203.3:c.1571C>G, XM_005262203.2:c.1571C>G, XM_005262203.1:c.1571C>G, NP_079197.3:p.Ser539Cys, NP_001294869.1:p.Ser539Cys, XP_005262260.1:p.Ser524Cys

Select item 145924201717.

rs1459242017 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:85307243 (GRCh38)
X:84562249 (GRCh37)
Canonical SPDI:: NC_000023.11:85307242:C:A
Gene:: POF1B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000142/2 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.85307243C>A, NC_000023.10:g.84562249C>A, NG_016358.2:g.77422G>T, NG_016358.1:g.77500G>T, NM_024921.4:c.1084G>T, NM_024921.3:c.1084G>T, NM_001307940.2:c.1084G>T, NM_001307940.1:c.1084G>T, XM_005262203.5:c.1039G>T, XM_005262203.4:c.1039G>T, XM_005262203.3:c.1039G>T, XM_005262203.2:c.1039G>T, XM_005262203.1:c.1039G>T, NP_079197.3:p.Asp362Tyr, NP_001294869.1:p.Asp362Tyr, XP_005262260.1:p.Asp347Tyr

Select item 145886132818.

rs1458861328 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:85345994 (GRCh38)
X:84601000 (GRCh37)
Canonical SPDI:: NC_000023.11:85345993:G:A
Gene:: POF1B (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000223/2 (ALFA)
A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.85345994G>A, NC_000023.10:g.84601000G>A, NG_016358.2:g.38671C>T, NG_016358.1:g.38749C>T, NM_024921.4:c.589C>T, NM_024921.3:c.589C>T, NM_001307940.2:c.589C>T, NM_001307940.1:c.589C>T, XM_005262203.5:c.544C>T, XM_005262203.4:c.544C>T, XM_005262203.3:c.544C>T, XM_005262203.2:c.544C>T, XM_005262203.1:c.544C>T, NP_079197.3:p.Gln197Ter, NP_001294869.1:p.Gln197Ter, XP_005262260.1:p.Gln182Ter

Select item 144955236919.

rs1449552369 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:85305820 (GRCh38)
X:84560826 (GRCh37)
Canonical SPDI:: NC_000023.11:85305819:C:G
Gene:: POF1B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.85305820C>G, NC_000023.10:g.84560826C>G, NG_016358.2:g.78845G>C, NG_016358.1:g.78923G>C, NM_024921.4:c.1408G>C, NM_024921.3:c.1408G>C, NM_001307940.2:c.1408G>C, NM_001307940.1:c.1408G>C, XM_005262203.5:c.1363G>C, XM_005262203.4:c.1363G>C, XM_005262203.3:c.1363G>C, XM_005262203.2:c.1363G>C, XM_005262203.1:c.1363G>C, NP_079197.3:p.Glu470Gln, NP_001294869.1:p.Glu470Gln, XP_005262260.1:p.Glu455Gln

Select item 144698046520.

rs1446980465 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:85304364 (GRCh38)
X:84559370 (GRCh37)
Canonical SPDI:: NC_000023.11:85304363:G:A
Gene:: POF1B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.85304364G>A, NC_000023.10:g.84559370G>A, NG_016358.2:g.80301C>T, NG_016358.1:g.80379C>T, NM_024921.4:c.1545C>T, NM_024921.3:c.1545C>T, NM_001307940.2:c.1545C>T, NM_001307940.1:c.1545C>T, XM_005262203.5:c.1500C>T, XM_005262203.4:c.1500C>T, XM_005262203.3:c.1500C>T, XM_005262203.2:c.1500C>T, XM_005262203.1:c.1500C>T

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