SNP Links for Protein (Select 190358548) - SNP

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Links from Protein

Items: 1 to 20 of 119

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Select item 14903308601.

rs1490330860 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:47977442 (GRCh38)
19:48480699 (GRCh37)
Canonical SPDI:: NC_000019.10:47977441:T:C
Gene:: BSPH1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.47977442T>C, NC_000019.9:g.48480699T>C, NM_001128326.2:c.187A>G, XM_017026118.1:c.187A>G, NP_001121798.1:p.Lys63Glu, XP_016881607.1:p.Lys63Glu

Select item 14861359502.

rs1486135950 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:47992010 (GRCh38)
19:48495267 (GRCh37)
Canonical SPDI:: NC_000019.10:47992009:T:G
Gene:: BSPH1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000013/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.47992010T>G, NC_000019.9:g.48495267T>G, NM_001128326.2:c.72A>C, XM_017026118.1:c.72A>C, NP_001121798.1:p.Leu24Phe, XP_016881607.1:p.Leu24Phe

Select item 14828622463.

rs1482862246 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAT>- [Show Flanks]
Chromosome:: 19:47980932 (GRCh38)
19:48484189 (GRCh37)
Canonical SPDI:: NC_000019.10:47980927:TGATGAT:TGAT
Gene:: BSPH1 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: TGAT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.47980929GAT[1], NC_000019.9:g.48484186GAT[1], NM_001128326.2:c.82TCA[1], XM_017026118.1:c.82TCA[1], NP_001121798.1:p.Ser29del, XP_016881607.1:p.Ser29del

Select item 14821309294.

rs1482130929 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:47979590 (GRCh38)
19:48482847 (GRCh37)
Canonical SPDI:: NC_000019.10:47979589:G:T
Gene:: BSPH1 (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_000019.10:g.47979590G>T, NC_000019.9:g.48482847G>T, NM_001128326.2:c.104C>A, XM_017026118.1:c.104C>A, NP_001121798.1:p.Thr35Asn, XP_016881607.1:p.Thr35Asn

Select item 14726855015.

rs1472685501 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 19:47977385 (GRCh38)
19:48480642 (GRCh37)
Canonical SPDI:: NC_000019.10:47977384:AAAA:AAA
Gene:: BSPH1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.47977388del, NC_000019.9:g.48480645del, NM_001128326.2:c.244del, XM_017026118.1:c.244del, NP_001121798.1:p.Cys82fs, XP_016881607.1:p.Cys82fs

Select item 14699663966.

rs1469966396 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:47976819 (GRCh38)
19:48480076 (GRCh37)
Canonical SPDI:: NC_000019.10:47976818:G:A
Gene:: BSPH1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000023/6 (TOPMED)
A=0.000026/4 (GnomAD_exomes)
A=0.000043/6 (GnomAD)
HGVS:: NC_000019.10:g.47976819G>A, NC_000019.9:g.48480076G>A, NM_001128326.2:c.292C>T, XM_017026118.1:c.292C>T, NP_001121798.1:p.Arg98Cys, XP_016881607.1:p.Arg98Cys

Select item 14658544767.

rs1465854476 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:47976767 (GRCh38)
19:48480024 (GRCh37)
Canonical SPDI:: NC_000019.10:47976766:C:A,NC_000019.10:47976766:C:T
Gene:: BSPH1 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000029/4 (GnomAD)
HGVS:: NC_000019.10:g.47976767C>A, NC_000019.10:g.47976767C>T, NC_000019.9:g.48480024C>A, NC_000019.9:g.48480024C>T, NM_001128326.2:c.344G>T, NM_001128326.2:c.344G>A, XM_017026118.1:c.344G>T, XM_017026118.1:c.344G>A, NP_001121798.1:p.Trp115Leu, NP_001121798.1:p.Trp115Ter, XP_016881607.1:p.Trp115Leu, XP_016881607.1:p.Trp115Ter

Select item 14619255808.

rs1461925580 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:47976781 (GRCh38)
19:48480038 (GRCh37)
Canonical SPDI:: NC_000019.10:47976780:T:C
Gene:: BSPH1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.47976781T>C, NC_000019.9:g.48480038T>C, NM_001128326.2:c.330A>G, XM_017026118.1:c.330A>G

Select item 14611879629.

rs1461187962 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTTTTTTTT [Show Flanks]
Chromosome:: 19:47976783 (GRCh38)
19:48480041 (GRCh37)
Canonical SPDI:: NC_000019.10:47976783:TT:TTTTTTTTTTT
Gene:: BSPH1 (Varview)
Functional Consequence:: inframe_insertion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0.00015/2 (ALFA)
TTTTTTTTT=0.00022/1 (Estonian)
HGVS:: NC_000019.10:g.47976785_47976786insTTTTTTTTT, NC_000019.9:g.48480042_48480043insTTTTTTTTT, NM_001128326.2:c.327_328insAAAAAAAAA, XM_017026118.1:c.327_328insAAAAAAAAA, NP_001121798.1:p.Ala110_Phe111insLysLysLys, XP_016881607.1:p.Ala110_Phe111insLysLysLys

Select item 145596391410.

rs1455963914 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:47992070 (GRCh38)
19:48495327 (GRCh37)
Canonical SPDI:: NC_000019.10:47992069:C:G
Gene:: BSPH1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.47992070C>G, NC_000019.9:g.48495327C>G, NM_001128326.2:c.12G>C, XM_017026118.1:c.12G>C

Select item 145298718411.

rs1452987184 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:47976734 (GRCh38)
19:48479991 (GRCh37)
Canonical SPDI:: NC_000019.10:47976733:C:T
Gene:: BSPH1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000006/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000019.10:g.47976734C>T, NC_000019.9:g.48479991C>T, NM_001128326.2:c.377G>A, XM_017026118.1:c.377G>A, NP_001121798.1:p.Arg126Gln, XP_016881607.1:p.Arg126Gln

Select item 144611658612.

rs1446116586 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:47977404 (GRCh38)
19:48480661 (GRCh37)
Canonical SPDI:: NC_000019.10:47977403:G:A,NC_000019.10:47977403:G:T
Gene:: BSPH1 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
HGVS:: NC_000019.10:g.47977404G>A, NC_000019.10:g.47977404G>T, NC_000019.9:g.48480661G>A, NC_000019.9:g.48480661G>T, NM_001128326.2:c.225C>T, NM_001128326.2:c.225C>A, XM_017026118.1:c.225C>T, XM_017026118.1:c.225C>A, NP_001121798.1:p.Tyr75Ter, XP_016881607.1:p.Tyr75Ter

Select item 144440363113.

rs1444403631 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:47976808 (GRCh38)
19:48480065 (GRCh37)
Canonical SPDI:: NC_000019.10:47976807:G:C
Gene:: BSPH1 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000028/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.47976808G>C, NC_000019.9:g.48480065G>C, NM_001128326.2:c.303C>G, XM_017026118.1:c.303C>G, NP_001121798.1:p.Tyr101Ter, XP_016881607.1:p.Tyr101Ter

Select item 144042501914.

rs1440425019 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:47976774 (GRCh38)
19:48480031 (GRCh37)
Canonical SPDI:: NC_000019.10:47976773:T:C
Gene:: BSPH1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.47976774T>C, NC_000019.9:g.48480031T>C, NM_001128326.2:c.337A>G, XM_017026118.1:c.337A>G, NP_001121798.1:p.Lys113Glu, XP_016881607.1:p.Lys113Glu

Select item 142625209415.

rs1426252094 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:47976748 (GRCh38)
19:48480005 (GRCh37)
Canonical SPDI:: NC_000019.10:47976747:A:C
Gene:: BSPH1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.47976748A>C, NC_000019.9:g.48480005A>C, NM_001128326.2:c.363T>G, XM_017026118.1:c.363T>G, NP_001121798.1:p.Asn121Lys, XP_016881607.1:p.Asn121Lys

Select item 142400708816.

rs1424007088 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:47977495 (GRCh38)
19:48480752 (GRCh37)
Canonical SPDI:: NC_000019.10:47977494:C:G
Gene:: BSPH1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.47977495C>G, NC_000019.9:g.48480752C>G, NM_001128326.2:c.134G>C, XM_017026118.1:c.134G>C, NP_001121798.1:p.Cys45Ser, XP_016881607.1:p.Cys45Ser

Select item 142047180017.

rs1420471800 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:47977451 (GRCh38)
19:48480708 (GRCh37)
Canonical SPDI:: NC_000019.10:47977450:T:A
Gene:: BSPH1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.47977451T>A, NC_000019.9:g.48480708T>A, NM_001128326.2:c.178A>T, XM_017026118.1:c.178A>T, NP_001121798.1:p.Ile60Phe, XP_016881607.1:p.Ile60Phe

Select item 141797115818.

rs1417971158 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:47977464 (GRCh38)
19:48480721 (GRCh37)
Canonical SPDI:: NC_000019.10:47977463:T:G
Gene:: BSPH1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.47977464T>G, NC_000019.9:g.48480721T>G, NM_001128326.2:c.165A>C, XM_017026118.1:c.165A>C

Select item 141726044819.

rs1417260448 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:47977472 (GRCh38)
19:48480729 (GRCh37)
Canonical SPDI:: NC_000019.10:47977471:T:A
Gene:: BSPH1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000013/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.47977472T>A, NC_000019.9:g.48480729T>A, NM_001128326.2:c.157A>T, XM_017026118.1:c.157A>T, NP_001121798.1:p.Asn53Tyr, XP_016881607.1:p.Asn53Tyr

Select item 140851876020.

rs1408518760 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:47976720 (GRCh38)
19:48479977 (GRCh37)
Canonical SPDI:: NC_000019.10:47976719:A:T
Gene:: BSPH1 (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=0.000011/3 (TOPMED)
T=0.000013/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.47976720A>T, NC_000019.9:g.48479977A>T, NM_001128326.2:c.391T>A, XM_017026118.1:c.391T>A, NP_001121798.1:p.Cys131Ser, XP_016881607.1:p.Cys131Ser