SNP Links for Protein (Select 18254456) - SNP

Links from Protein

Items: 1 to 20 of 353

<< First< Prev

Page of 18

Next >Last >>

Select item 14868002991.

rs1486800299 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 21:42477361 (GRCh38)
21:43897471 (GRCh37)
Canonical SPDI:: NC_000021.9:42477360:C:A
Gene:: RSPH1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000021.9:g.42477361C>A, NC_000021.8:g.43897471C>A, NG_034257.1:g.23994G>T, NM_080860.4:c.657G>T, NM_080860.3:c.657G>T, NM_080860.2:c.657G>T, NM_001286506.2:c.543G>T, NM_001286506.1:c.543G>T, XM_005261208.3:c.450G>T, XM_005261208.2:c.450G>T, XM_005261208.1:c.450G>T, XM_011529786.2:c.585G>T, XM_011529786.1:c.585G>T

Select item 14834129522.

rs1483412952 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 21:42475914 (GRCh38)
21:43896024 (GRCh37)
Canonical SPDI:: NC_000021.9:42475913:G:C
Gene:: RSPH1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000021.9:g.42475914G>C, NC_000021.8:g.43896024G>C, NG_034257.1:g.25441C>G, NM_080860.4:c.861C>G, NM_080860.3:c.861C>G, NM_080860.2:c.861C>G, NM_001286506.2:c.747C>G, NM_001286506.1:c.747C>G, XM_005261208.3:c.654C>G, XM_005261208.2:c.654C>G, XM_005261208.1:c.654C>G, XM_011529786.2:c.789C>G, XM_011529786.1:c.789C>G

Select item 14831583673.

rs1483158367 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 21:42485754 (GRCh38)
21:43905864 (GRCh37)
Canonical SPDI:: NC_000021.9:42485753:C:G,NC_000021.9:42485753:C:T
Gene:: RSPH1 (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)
HGVS:: NC_000021.9:g.42485754C>G, NC_000021.9:g.42485754C>T, NC_000021.8:g.43905864C>G, NC_000021.8:g.43905864C>T, NG_034257.1:g.15601G>C, NG_034257.1:g.15601G>A, NM_080860.4:c.416G>C, NM_080860.4:c.416G>A, NM_080860.3:c.416G>C, NM_080860.3:c.416G>A, NM_080860.2:c.416G>C, NM_080860.2:c.416G>A, NM_001286506.2:c.302G>C, NM_001286506.2:c.302G>A, NM_001286506.1:c.302G>C, NM_001286506.1:c.302G>A, XM_005261208.3:c.209G>C, XM_005261208.3:c.209G>A, XM_005261208.2:c.209G>C, XM_005261208.2:c.209G>A, XM_005261208.1:c.209G>C, XM_005261208.1:c.209G>A, XM_011529786.2:c.416G>C, XM_011529786.2:c.416G>A, XM_011529786.1:c.416G>C, XM_011529786.1:c.416G>A, NP_543136.1:p.Gly139Ala, NP_543136.1:p.Gly139Asp, NP_001273435.1:p.Gly101Ala, NP_001273435.1:p.Gly101Asp, XP_005261265.1:p.Gly70Ala, XP_005261265.1:p.Gly70Asp, XP_011528088.1:p.Gly139Ala, XP_011528088.1:p.Gly139Asp

Select item 14815470344.

rs1481547034 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:42475931 (GRCh38)
21:43896041 (GRCh37)
Canonical SPDI:: NC_000021.9:42475930:C:T
Gene:: RSPH1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.42475931C>T, NC_000021.8:g.43896041C>T, NG_034257.1:g.25424G>A, NM_080860.4:c.844G>A, NM_080860.3:c.844G>A, NM_080860.2:c.844G>A, NM_001286506.2:c.730G>A, NM_001286506.1:c.730G>A, XM_005261208.3:c.637G>A, XM_005261208.2:c.637G>A, XM_005261208.1:c.637G>A, XM_011529786.2:c.772G>A, XM_011529786.1:c.772G>A, NP_543136.1:p.Asp282Asn, NP_001273435.1:p.Asp244Asn, XP_005261265.1:p.Asp213Asn, XP_011528088.1:p.Asp258Asn

Select item 14790352635.

rs1479035263 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 21:42493010 (GRCh38)
21:43913120 (GRCh37)
Canonical SPDI:: NC_000021.9:42493009:C:A
Gene:: RSPH1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.42493010C>A, NC_000021.8:g.43913120C>A, NG_034257.1:g.8345G>T, NM_080860.4:c.124G>T, NM_080860.3:c.124G>T, NM_080860.2:c.124G>T, NG_081884.1:g.751C>A, XM_011529786.2:c.124G>T, XM_011529786.1:c.124G>T, NP_543136.1:p.Asp42Tyr, XP_011528088.1:p.Asp42Tyr

Select item 14772708126.

rs1477270812 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:42477405 (GRCh38)
21:43897515 (GRCh37)
Canonical SPDI:: NC_000021.9:42477404:C:T
Gene:: RSPH1 (Varview)
Functional Consequence:: missense_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_000021.9:g.42477405C>T, NC_000021.8:g.43897515C>T, NG_034257.1:g.23950G>A, NM_080860.4:c.613G>A, NM_080860.3:c.613G>A, NM_080860.2:c.613G>A, NM_001286506.2:c.499G>A, NM_001286506.1:c.499G>A, XM_005261208.3:c.406G>A, XM_005261208.2:c.406G>A, XM_005261208.1:c.406G>A, XM_011529786.2:c.541G>A, XM_011529786.1:c.541G>A, NP_543136.1:p.Val205Ile, NP_001273435.1:p.Val167Ile, XP_005261265.1:p.Val136Ile, XP_011528088.1:p.Val181Ile

Select item 14767484967.

rs1476748496 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 21:42477440 (GRCh38)
21:43897550 (GRCh37)
Canonical SPDI:: NC_000021.9:42477439:C:
Gene:: RSPH1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.42477440del, NC_000021.8:g.43897550del, NG_034257.1:g.23915del, NM_080860.4:c.578del, NM_080860.3:c.578del, NM_080860.2:c.578del, NM_001286506.2:c.464del, NM_001286506.1:c.464del, XM_005261208.3:c.371del, XM_005261208.2:c.371del, XM_005261208.1:c.371del, XM_011529786.2:c.506del, XM_011529786.1:c.506del, NP_543136.1:p.Arg193fs, NP_001273435.1:p.Arg155fs, XP_005261265.1:p.Arg124fs, XP_011528088.1:p.Arg169fs

Select item 14717977158.

rs1471797715 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 21:42485774 (GRCh38)
21:43905884 (GRCh37)
Canonical SPDI:: NC_000021.9:42485773:C:A
Gene:: RSPH1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000021.9:g.42485774C>A, NC_000021.8:g.43905884C>A, NG_034257.1:g.15581G>T, NM_080860.4:c.396G>T, NM_080860.3:c.396G>T, NM_080860.2:c.396G>T, NM_001286506.2:c.282G>T, NM_001286506.1:c.282G>T, XM_005261208.3:c.189G>T, XM_005261208.2:c.189G>T, XM_005261208.1:c.189G>T, XM_011529786.2:c.396G>T, XM_011529786.1:c.396G>T, NP_543136.1:p.Glu132Asp, NP_001273435.1:p.Glu94Asp, XP_005261265.1:p.Glu63Asp, XP_011528088.1:p.Glu132Asp

Select item 14709822699.

rs1470982269 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:42482700 (GRCh38)
21:43902810 (GRCh37)
Canonical SPDI:: NC_000021.9:42482699:G:A
Gene:: RSPH1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
HGVS:: NC_000021.9:g.42482700G>A, NC_000021.8:g.43902810G>A, NG_034257.1:g.18655C>T, NM_080860.4:c.510C>T, NM_080860.3:c.510C>T, NM_080860.2:c.510C>T, NM_001286506.2:c.396C>T, NM_001286506.1:c.396C>T, XM_005261208.3:c.303C>T, XM_005261208.2:c.303C>T, XM_005261208.1:c.303C>T

Select item 146490408510.

rs1464904085 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 21:42475909 (GRCh38)
21:43896019 (GRCh37)
Canonical SPDI:: NC_000021.9:42475908:T:A
Gene:: RSPH1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.42475909T>A, NC_000021.8:g.43896019T>A, NG_034257.1:g.25446A>T, NM_080860.4:c.866A>T, NM_080860.3:c.866A>T, NM_080860.2:c.866A>T, NM_001286506.2:c.752A>T, NM_001286506.1:c.752A>T, XM_005261208.3:c.659A>T, XM_005261208.2:c.659A>T, XM_005261208.1:c.659A>T, XM_011529786.2:c.794A>T, XM_011529786.1:c.794A>T, NP_543136.1:p.Asp289Val, NP_001273435.1:p.Asp251Val, XP_005261265.1:p.Asp220Val, XP_011528088.1:p.Asp265Val

Select item 145628284811.

rs1456282848 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:42492782 (GRCh38)
21:43912892 (GRCh37)
Canonical SPDI:: NC_000021.9:42492781:A:G
Gene:: RSPH1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000021.9:g.42492782A>G, NC_000021.8:g.43912892A>G, NG_034257.1:g.8573T>C, NM_080860.4:c.250T>C, NM_080860.3:c.250T>C, NM_080860.2:c.250T>C, NM_001286506.2:c.136T>C, NM_001286506.1:c.136T>C, NG_081884.1:g.523A>G, XM_011529786.2:c.250T>C, XM_011529786.1:c.250T>C, NP_543136.1:p.Tyr84His, NP_001273435.1:p.Tyr46His, XP_011528088.1:p.Tyr84His

Select item 145580591812.

rs1455805918 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:42477375 (GRCh38)
21:43897485 (GRCh37)
Canonical SPDI:: NC_000021.9:42477374:T:C
Gene:: RSPH1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000051/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000021.9:g.42477375T>C, NC_000021.8:g.43897485T>C, NG_034257.1:g.23980A>G, NM_080860.4:c.643A>G, NM_080860.3:c.643A>G, NM_080860.2:c.643A>G, NM_001286506.2:c.529A>G, NM_001286506.1:c.529A>G, XM_005261208.3:c.436A>G, XM_005261208.2:c.436A>G, XM_005261208.1:c.436A>G, XM_011529786.2:c.571A>G, XM_011529786.1:c.571A>G, NP_543136.1:p.Thr215Ala, NP_001273435.1:p.Thr177Ala, XP_005261265.1:p.Thr146Ala, XP_011528088.1:p.Thr191Ala

Select item 145398638013.

rs1453986380 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:42472843 (GRCh38)
21:43892953 (GRCh37)
Canonical SPDI:: NC_000021.9:42472842:G:A
Gene:: RSPH1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000028/1 (ALFA)
A=0.00003/8 (TOPMED)
HGVS:: NC_000021.9:g.42472843G>A, NC_000021.8:g.43892953G>A, NG_034257.1:g.28512C>T, NM_080860.4:c.905C>T, NM_080860.3:c.905C>T, NM_080860.2:c.905C>T, NM_001286506.2:c.791C>T, NM_001286506.1:c.791C>T, XM_005261208.3:c.698C>T, XM_005261208.2:c.698C>T, XM_005261208.1:c.698C>T, XM_011529786.2:c.833C>T, XM_011529786.1:c.833C>T, NP_543136.1:p.Thr302Ile, NP_001273435.1:p.Thr264Ile, XP_005261265.1:p.Thr233Ile, XP_011528088.1:p.Thr278Ile

Select item 145023546814.

rs1450235468 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:42493076 (GRCh38)
21:43913186 (GRCh37)
Canonical SPDI:: NC_000021.9:42493075:A:G
Gene:: RSPH1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_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_000021.9:g.42493076A>G, NC_000021.8:g.43913186A>G, NG_034257.1:g.8279T>C, NM_080860.4:c.58T>C, NM_080860.3:c.58T>C, NM_080860.2:c.58T>C, NG_081884.1:g.817A>G, XM_011529786.2:c.58T>C, XM_011529786.1:c.58T>C, NP_543136.1:p.Tyr20His, XP_011528088.1:p.Tyr20His

Select item 144743410815.

rs1447434108 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 21:42475944 (GRCh38)
21:43896054 (GRCh37)
Canonical SPDI:: NC_000021.9:42475943:C:G
Gene:: RSPH1 (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_000021.9:g.42475944C>G, NC_000021.8:g.43896054C>G, NG_034257.1:g.25411G>C, NM_080860.4:c.831G>C, NM_080860.3:c.831G>C, NM_080860.2:c.831G>C, NM_001286506.2:c.717G>C, NM_001286506.1:c.717G>C, XM_005261208.3:c.624G>C, XM_005261208.2:c.624G>C, XM_005261208.1:c.624G>C, XM_011529786.2:c.759G>C, XM_011529786.1:c.759G>C, NP_543136.1:p.Glu277Asp, NP_001273435.1:p.Glu239Asp, XP_005261265.1:p.Glu208Asp, XP_011528088.1:p.Glu253Asp

Select item 144559675816.

rs1445596758 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 21:42492770 (GRCh38)
21:43912880 (GRCh37)
Canonical SPDI:: NC_000021.9:42492769:A:
Gene:: RSPH1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,intron_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.42492770del, NC_000021.8:g.43912880del, NG_034257.1:g.8585del, NM_080860.4:c.262del, NM_080860.3:c.262del, NM_080860.2:c.262del, NM_001286506.2:c.148del, NM_001286506.1:c.148del, NG_081884.1:g.511del, XM_011529786.2:c.262del, XM_011529786.1:c.262del, NP_543136.1:p.Ser88fs, NP_001273435.1:p.Ser50fs, XP_011528088.1:p.Ser88fs

Select item 143456442317.

rs1434564423 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:42486452 (GRCh38)
21:43906562 (GRCh37)
Canonical SPDI:: NC_000021.9:42486451:G:A
Gene:: RSPH1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000021.9:g.42486452G>A, NC_000021.8:g.43906562G>A, NG_034257.1:g.14903C>T, NM_080860.4:c.284C>T, NM_080860.3:c.284C>T, NM_080860.2:c.284C>T, NM_001286506.2:c.170C>T, NM_001286506.1:c.170C>T, XM_005261208.3:c.77C>T, XM_005261208.2:c.77C>T, XM_005261208.1:c.77C>T, XM_011529786.2:c.284C>T, XM_011529786.1:c.284C>T, NP_543136.1:p.Ala95Val, NP_001273435.1:p.Ala57Val, XP_005261265.1:p.Ala26Val, XP_011528088.1:p.Ala95Val

Select item 143012531818.

rs1430125318 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:42477315 (GRCh38)
21:43897425 (GRCh37)
Canonical SPDI:: NC_000021.9:42477314:C:T
Gene:: RSPH1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.42477315C>T, NC_000021.8:g.43897425C>T, NG_034257.1:g.24040G>A, NM_080860.4:c.703G>A, NM_080860.3:c.703G>A, NM_080860.2:c.703G>A, NM_001286506.2:c.589G>A, NM_001286506.1:c.589G>A, XM_005261208.3:c.496G>A, XM_005261208.2:c.496G>A, XM_005261208.1:c.496G>A, XM_011529786.2:c.631G>A, XM_011529786.1:c.631G>A, NP_543136.1:p.Gly235Ser, NP_001273435.1:p.Gly197Ser, XP_005261265.1:p.Gly166Ser, XP_011528088.1:p.Gly211Ser

Select item 143009384119.

rs1430093841 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:42482699 (GRCh38)
21:43902809 (GRCh37)
Canonical SPDI:: NC_000021.9:42482698:G:A
Gene:: RSPH1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.42482699G>A, NC_000021.8:g.43902809G>A, NG_034257.1:g.18656C>T, NM_080860.4:c.511C>T, NM_080860.3:c.511C>T, NM_080860.2:c.511C>T, NM_001286506.2:c.397C>T, NM_001286506.1:c.397C>T, XM_005261208.3:c.304C>T, XM_005261208.2:c.304C>T, XM_005261208.1:c.304C>T, NP_543136.1:p.Pro171Ser, NP_001273435.1:p.Pro133Ser, XP_005261265.1:p.Pro102Ser

Select item 142892330820.

rs1428923308 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 21:42496140 (GRCh38)
21:43916250 (GRCh37)
Canonical SPDI:: NC_000021.9:42496139:T:G
Gene:: RSPH1 (Varview), RSPH1-DT (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.42496140T>G, NC_000021.8:g.43916250T>G, NG_033931.1:g.1509T>G, NG_034257.1:g.5215A>C, NM_080860.4:c.47A>C, NM_080860.3:c.47A>C, NM_080860.2:c.47A>C, NM_001286506.2:c.47A>C, NM_001286506.1:c.47A>C, XM_005261208.3:c.47A>C, XM_005261208.2:c.47A>C, XM_005261208.1:c.47A>C, XM_011529786.2:c.47A>C, XM_011529786.1:c.47A>C, NP_543136.1:p.Asp16Ala, NP_001273435.1:p.Asp16Ala, XP_005261265.1:p.Asp16Ala, XP_011528088.1:p.Asp16Ala

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 353

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity