SNP Links for Protein (Select 153792461) - SNP

Links from Protein

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Select item 14898966771.

rs1489896677 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:6765767 (GRCh38)
7:6805398 (GRCh37)
Canonical SPDI:: NC_000007.14:6765766:T:C
Gene:: RSPH10B2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/1 (GnomAD)
HGVS:: NC_000007.14:g.6765767T>C, NC_000007.13:g.6805398T>C, XM_006715766.3:c.635T>C, XM_006715766.2:c.635T>C, XM_006715766.1:c.635T>C, XM_024446908.2:c.635T>C, XM_024446908.1:c.635T>C, XM_024446903.2:c.635T>C, XM_024446903.1:c.635T>C, XM_024446904.2:c.635T>C, XM_024446904.1:c.635T>C, XM_024446905.2:c.635T>C, XM_024446905.1:c.635T>C, XM_011515491.2:c.635T>C, XM_011515491.1:c.635T>C, XM_024446902.2:c.635T>C, XM_024446902.1:c.635T>C, NM_001099697.2:c.635T>C, NM_001099697.1:c.635T>C, XM_011515493.2:c.635T>C, XM_011515493.1:c.635T>C, XM_024446906.2:c.635T>C, XM_024446906.1:c.635T>C, XM_047420782.1:c.635T>C, XM_047420783.1:c.635T>C, XP_006715829.1:p.Ile212Thr, XP_024302676.1:p.Ile212Thr, XP_024302671.1:p.Ile212Thr, XP_024302672.1:p.Ile212Thr, XP_024302673.1:p.Ile212Thr, XP_011513793.1:p.Ile212Thr, XP_024302670.1:p.Ile212Thr, NP_001093167.1:p.Ile212Thr, XP_011513795.1:p.Ile212Thr, XP_024302674.1:p.Ile212Thr, XP_047276738.1:p.Ile212Thr, XP_047276739.1:p.Ile212Thr

Select item 14892778092.

rs1489277809 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:6765744 (GRCh38)
7:6805375 (GRCh37)
Canonical SPDI:: NC_000007.14:6765743:C:T
Gene:: RSPH10B2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000036/1 (TOMMO)
HGVS:: NC_000007.14:g.6765744C>T, NC_000007.13:g.6805375C>T, XM_006715766.3:c.612C>T, XM_006715766.2:c.612C>T, XM_006715766.1:c.612C>T, XM_024446908.2:c.612C>T, XM_024446908.1:c.612C>T, XM_024446903.2:c.612C>T, XM_024446903.1:c.612C>T, XM_024446904.2:c.612C>T, XM_024446904.1:c.612C>T, XM_024446905.2:c.612C>T, XM_024446905.1:c.612C>T, XM_011515491.2:c.612C>T, XM_011515491.1:c.612C>T, XM_024446902.2:c.612C>T, XM_024446902.1:c.612C>T, NM_001099697.2:c.612C>T, NM_001099697.1:c.612C>T, XM_011515493.2:c.612C>T, XM_011515493.1:c.612C>T, XM_024446906.2:c.612C>T, XM_024446906.1:c.612C>T, XM_047420782.1:c.612C>T, XM_047420783.1:c.612C>T

Select item 14889698693.

rs1488969869 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:6764065 (GRCh38)
7:6803696 (GRCh37)
Canonical SPDI:: NC_000007.14:6764064:C:T
Gene:: RSPH10B2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.6764065C>T, NC_000007.13:g.6803696C>T, XM_005249833.5:c.-17C>T, XM_005249833.4:c.-17C>T, XM_005249833.3:c.-17C>T, XM_005249833.2:c.-17C>T, XM_005249833.1:c.-17C>T, XM_006715766.3:c.537C>T, XM_006715766.2:c.537C>T, XM_006715766.1:c.537C>T, XM_024446908.2:c.537C>T, XM_024446908.1:c.537C>T, XM_024446903.2:c.537C>T, XM_024446903.1:c.537C>T, XM_024446904.2:c.537C>T, XM_024446904.1:c.537C>T, XM_024446905.2:c.537C>T, XM_024446905.1:c.537C>T, XM_011515491.2:c.537C>T, XM_011515491.1:c.537C>T, XM_024446902.2:c.537C>T, XM_024446902.1:c.537C>T, NM_001099697.2:c.537C>T, NM_001099697.1:c.537C>T, XM_011515493.2:c.537C>T, XM_011515493.1:c.537C>T, XM_024446906.2:c.537C>T, XM_024446906.1:c.537C>T, XM_047420782.1:c.537C>T, XM_047420783.1:c.537C>T, XM_047420784.1:c.-17C>T

Select item 14886871504.

rs1488687150 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:6764044 (GRCh38)
7:6803675 (GRCh37)
Canonical SPDI:: NC_000007.14:6764043:C:T
Gene:: RSPH10B2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000007.14:g.6764044C>T, NC_000007.13:g.6803675C>T, XM_005249833.5:c.-38C>T, XM_005249833.4:c.-38C>T, XM_005249833.3:c.-38C>T, XM_005249833.2:c.-38C>T, XM_005249833.1:c.-38C>T, XM_006715766.3:c.516C>T, XM_006715766.2:c.516C>T, XM_006715766.1:c.516C>T, XM_024446908.2:c.516C>T, XM_024446908.1:c.516C>T, XM_024446903.2:c.516C>T, XM_024446903.1:c.516C>T, XM_024446904.2:c.516C>T, XM_024446904.1:c.516C>T, XM_024446905.2:c.516C>T, XM_024446905.1:c.516C>T, XM_011515491.2:c.516C>T, XM_011515491.1:c.516C>T, XM_024446902.2:c.516C>T, XM_024446902.1:c.516C>T, NM_001099697.2:c.516C>T, NM_001099697.1:c.516C>T, XM_011515493.2:c.516C>T, XM_011515493.1:c.516C>T, XM_024446906.2:c.516C>T, XM_024446906.1:c.516C>T, XM_047420782.1:c.516C>T, XM_047420783.1:c.516C>T, XM_047420784.1:c.-38C>T

Select item 14854253495.

rs1485425349 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:6796692 (GRCh38)
7:6836323 (GRCh37)
Canonical SPDI:: NC_000007.14:6796691:A:G
Gene:: RSPH10B2 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.6796692A>G, NC_000007.13:g.6836323A>G, XM_005249833.5:c.1734A>G, XM_005249833.4:c.1734A>G, XM_005249833.3:c.1734A>G, XM_005249833.2:c.1734A>G, XM_005249833.1:c.1734A>G, XM_006715766.3:c.2373A>G, XM_006715766.2:c.2373A>G, XM_006715766.1:c.2373A>G, XM_024446903.2:c.2358A>G, XM_024446903.1:c.2358A>G, XM_024446904.2:c.2178A>G, XM_024446904.1:c.2178A>G, XM_024446905.2:c.2163A>G, XM_024446905.1:c.2163A>G, XM_011515491.2:c.2373A>G, XM_011515491.1:c.2373A>G, XM_024446902.2:c.2373A>G, XM_024446902.1:c.2373A>G, NM_001099697.2:c.2358A>G, NM_001099697.1:c.2358A>G, XM_011515493.2:c.2373A>G, XM_011515493.1:c.2373A>G, XM_047420782.1:c.2373A>G, XM_047420783.1:c.2163A>G, XM_047420784.1:c.1719A>G

Select item 14833565456.

rs1483356545 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:6757885 (GRCh38)
7:6797516 (GRCh37)
Canonical SPDI:: NC_000007.14:6757884:G:C
Gene:: RSPH10B2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.0017/3 (Korea1K)
HGVS:: NC_000007.14:g.6757885G>C, NC_000007.13:g.6797516G>C, XM_006715766.3:c.208G>C, XM_006715766.2:c.208G>C, XM_006715766.1:c.208G>C, XM_024446908.2:c.208G>C, XM_024446908.1:c.208G>C, XM_024446903.2:c.208G>C, XM_024446903.1:c.208G>C, XM_024446904.2:c.208G>C, XM_024446904.1:c.208G>C, XM_024446905.2:c.208G>C, XM_024446905.1:c.208G>C, XM_011515491.2:c.208G>C, XM_011515491.1:c.208G>C, XM_024446902.2:c.208G>C, XM_024446902.1:c.208G>C, NM_001099697.2:c.208G>C, NM_001099697.1:c.208G>C, XM_011515493.2:c.208G>C, XM_011515493.1:c.208G>C, XM_024446906.2:c.208G>C, XM_024446906.1:c.208G>C, XM_047420782.1:c.208G>C, XM_047420783.1:c.208G>C, XP_006715829.1:p.Ala70Pro, XP_024302676.1:p.Ala70Pro, XP_024302671.1:p.Ala70Pro, XP_024302672.1:p.Ala70Pro, XP_024302673.1:p.Ala70Pro, XP_011513793.1:p.Ala70Pro, XP_024302670.1:p.Ala70Pro, NP_001093167.1:p.Ala70Pro, XP_011513795.1:p.Ala70Pro, XP_024302674.1:p.Ala70Pro, XP_047276738.1:p.Ala70Pro, XP_047276739.1:p.Ala70Pro

Select item 14821845327.

rs1482184532 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:6764054 (GRCh38)
7:6803685 (GRCh37)
Canonical SPDI:: NC_000007.14:6764053:C:T
Gene:: RSPH10B2 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.00005/1 (ALFA)
HGVS:: NC_000007.14:g.6764054C>T, NC_000007.13:g.6803685C>T, XM_005249833.5:c.-28C>T, XM_005249833.4:c.-28C>T, XM_005249833.3:c.-28C>T, XM_005249833.2:c.-28C>T, XM_005249833.1:c.-28C>T, XM_006715766.3:c.526C>T, XM_006715766.2:c.526C>T, XM_006715766.1:c.526C>T, XM_024446908.2:c.526C>T, XM_024446908.1:c.526C>T, XM_024446903.2:c.526C>T, XM_024446903.1:c.526C>T, XM_024446904.2:c.526C>T, XM_024446904.1:c.526C>T, XM_024446905.2:c.526C>T, XM_024446905.1:c.526C>T, XM_011515491.2:c.526C>T, XM_011515491.1:c.526C>T, XM_024446902.2:c.526C>T, XM_024446902.1:c.526C>T, NM_001099697.2:c.526C>T, NM_001099697.1:c.526C>T, XM_011515493.2:c.526C>T, XM_011515493.1:c.526C>T, XM_024446906.2:c.526C>T, XM_024446906.1:c.526C>T, XM_047420782.1:c.526C>T, XM_047420783.1:c.526C>T, XM_047420784.1:c.-28C>T, XP_006715829.1:p.Pro176Ser, XP_024302676.1:p.Pro176Ser, XP_024302671.1:p.Pro176Ser, XP_024302672.1:p.Pro176Ser, XP_024302673.1:p.Pro176Ser, XP_011513793.1:p.Pro176Ser, XP_024302670.1:p.Pro176Ser, NP_001093167.1:p.Pro176Ser, XP_011513795.1:p.Pro176Ser, XP_024302674.1:p.Pro176Ser, XP_047276738.1:p.Pro176Ser, XP_047276739.1:p.Pro176Ser

Select item 14813473238.

rs1481347323 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:6757698 (GRCh38)
7:6797329 (GRCh37)
Canonical SPDI:: NC_000007.14:6757697:A:C
Gene:: RSPH10B2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000008/1 (GnomAD)
HGVS:: NC_000007.14:g.6757698A>C, NC_000007.13:g.6797329A>C, XM_006715766.3:c.21A>C, XM_006715766.2:c.21A>C, XM_006715766.1:c.21A>C, XM_024446908.2:c.21A>C, XM_024446908.1:c.21A>C, XM_024446903.2:c.21A>C, XM_024446903.1:c.21A>C, XM_024446904.2:c.21A>C, XM_024446904.1:c.21A>C, XM_024446905.2:c.21A>C, XM_024446905.1:c.21A>C, XM_011515491.2:c.21A>C, XM_011515491.1:c.21A>C, XM_024446902.2:c.21A>C, XM_024446902.1:c.21A>C, NM_001099697.2:c.21A>C, NM_001099697.1:c.21A>C, XM_011515493.2:c.21A>C, XM_011515493.1:c.21A>C, XM_024446906.2:c.21A>C, XM_024446906.1:c.21A>C, XM_047420782.1:c.21A>C, XM_047420783.1:c.21A>C, XP_006715829.1:p.Lys7Asn, XP_024302676.1:p.Lys7Asn, XP_024302671.1:p.Lys7Asn, XP_024302672.1:p.Lys7Asn, XP_024302673.1:p.Lys7Asn, XP_011513793.1:p.Lys7Asn, XP_024302670.1:p.Lys7Asn, NP_001093167.1:p.Lys7Asn, XP_011513795.1:p.Lys7Asn, XP_024302674.1:p.Lys7Asn, XP_047276738.1:p.Lys7Asn, XP_047276739.1:p.Lys7Asn

Select item 14811094889.

rs1481109488 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:6771659 (GRCh38)
7:6811290 (GRCh37)
Canonical SPDI:: NC_000007.14:6771658:C:T
Gene:: RSPH10B2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00002/1 (GnomAD)
HGVS:: NC_000007.14:g.6771659C>T, NC_000007.13:g.6811290C>T, XM_005249833.5:c.446C>T, XM_005249833.4:c.446C>T, XM_005249833.3:c.446C>T, XM_005249833.2:c.446C>T, XM_005249833.1:c.446C>T, XM_006715766.3:c.1085C>T, XM_006715766.2:c.1085C>T, XM_006715766.1:c.1085C>T, XM_024446908.2:c.1085C>T, XM_024446908.1:c.1085C>T, XM_024446903.2:c.1070C>T, XM_024446903.1:c.1070C>T, XM_024446904.2:c.1085C>T, XM_024446904.1:c.1085C>T, XM_024446905.2:c.1070C>T, XM_024446905.1:c.1070C>T, XM_011515491.2:c.1085C>T, XM_011515491.1:c.1085C>T, XM_024446902.2:c.1085C>T, XM_024446902.1:c.1085C>T, NM_001099697.2:c.1070C>T, NM_001099697.1:c.1070C>T, XM_011515493.2:c.1085C>T, XM_011515493.1:c.1085C>T, XM_024446906.2:c.1085C>T, XM_024446906.1:c.1085C>T, XM_047420782.1:c.1085C>T, XM_047420783.1:c.1070C>T, XM_047420784.1:c.431C>T, XP_005249890.1:p.Ser149Leu, XP_006715829.1:p.Ser362Leu, XP_024302676.1:p.Ser362Leu, XP_024302671.1:p.Ser357Leu, XP_024302672.1:p.Ser362Leu, XP_024302673.1:p.Ser357Leu, XP_011513793.1:p.Ser362Leu, XP_024302670.1:p.Ser362Leu, NP_001093167.1:p.Ser357Leu, XP_011513795.1:p.Ser362Leu, XP_024302674.1:p.Ser362Leu, XP_047276738.1:p.Ser362Leu, XP_047276739.1:p.Ser357Leu, XP_047276740.1:p.Ser144Leu

Select item 148023423310.

rs1480234233 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:6757825 (GRCh38)
7:6797456 (GRCh37)
Canonical SPDI:: NC_000007.14:6757824:A:G
Gene:: RSPH10B2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000007.14:g.6757825A>G, NC_000007.13:g.6797456A>G, XM_006715766.3:c.148A>G, XM_006715766.2:c.148A>G, XM_006715766.1:c.148A>G, XM_024446908.2:c.148A>G, XM_024446908.1:c.148A>G, XM_024446903.2:c.148A>G, XM_024446903.1:c.148A>G, XM_024446904.2:c.148A>G, XM_024446904.1:c.148A>G, XM_024446905.2:c.148A>G, XM_024446905.1:c.148A>G, XM_011515491.2:c.148A>G, XM_011515491.1:c.148A>G, XM_024446902.2:c.148A>G, XM_024446902.1:c.148A>G, NM_001099697.2:c.148A>G, NM_001099697.1:c.148A>G, XM_011515493.2:c.148A>G, XM_011515493.1:c.148A>G, XM_024446906.2:c.148A>G, XM_024446906.1:c.148A>G, XM_047420782.1:c.148A>G, XM_047420783.1:c.148A>G, XP_006715829.1:p.Met50Val, XP_024302676.1:p.Met50Val, XP_024302671.1:p.Met50Val, XP_024302672.1:p.Met50Val, XP_024302673.1:p.Met50Val, XP_011513793.1:p.Met50Val, XP_024302670.1:p.Met50Val, NP_001093167.1:p.Met50Val, XP_011513795.1:p.Met50Val, XP_024302674.1:p.Met50Val, XP_047276738.1:p.Met50Val, XP_047276739.1:p.Met50Val

Select item 148012047911.

rs1480120479 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:6789660 (GRCh38)
7:6829291 (GRCh37)
Canonical SPDI:: NC_000007.14:6789659:C:A
Gene:: RSPH10B2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.001/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.6789660C>A, NC_000007.13:g.6829291C>A, XM_005249833.5:c.1416C>A, XM_005249833.4:c.1416C>A, XM_005249833.3:c.1416C>A, XM_005249833.2:c.1416C>A, XM_005249833.1:c.1416C>A, XM_006715766.3:c.2055C>A, XM_006715766.2:c.2055C>A, XM_006715766.1:c.2055C>A, XM_024446903.2:c.2040C>A, XM_024446903.1:c.2040C>A, XM_024446904.2:c.1860C>A, XM_024446904.1:c.1860C>A, XM_024446905.2:c.1845C>A, XM_024446905.1:c.1845C>A, XM_011515491.2:c.2055C>A, XM_011515491.1:c.2055C>A, XM_024446902.2:c.2055C>A, XM_024446902.1:c.2055C>A, NM_001099697.2:c.2040C>A, NM_001099697.1:c.2040C>A, XM_011515493.2:c.2055C>A, XM_011515493.1:c.2055C>A, XM_024446906.2:c.2055C>A, XM_024446906.1:c.2055C>A, XM_047420782.1:c.2055C>A, XM_047420783.1:c.1845C>A, XM_047420784.1:c.1401C>A

Select item 147930223612.

rs1479302236 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:6798542 (GRCh38)
7:6838173 (GRCh37)
Canonical SPDI:: NC_000007.14:6798541:A:G
Gene:: CCZ1B (Varview), RSPH10B2 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,stop_lost,terminator_codon_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000007.14:g.6798542A>G, NC_000007.13:g.6838173A>G, XM_005249833.5:c.1988A>G, XM_005249833.4:c.1988A>G, XM_005249833.3:c.1988A>G, XM_005249833.2:c.1988A>G, XM_005249833.1:c.1988A>G, XM_006715766.3:c.2627A>G, XM_006715766.2:c.2627A>G, XM_006715766.1:c.2627A>G, XM_024446903.2:c.2612A>G, XM_024446903.1:c.2612A>G, XM_024446904.2:c.2432A>G, XM_024446904.1:c.2432A>G, XM_024446905.2:c.2417A>G, XM_024446905.1:c.2417A>G, XM_011515491.2:c.2627A>G, XM_011515491.1:c.2627A>G, XM_024446902.2:c.2627A>G, XM_024446902.1:c.2627A>G, NM_001099697.2:c.2612A>G, NM_001099697.1:c.2612A>G, XM_011515493.2:c.2627A>G, XM_011515493.1:c.2627A>G, XM_047420782.1:c.2627A>G, XM_047420783.1:c.2417A>G, XM_047420784.1:c.1973A>G, XP_005249890.1:p.Ter663Trp, XP_006715829.1:p.Ter876Trp, XP_024302671.1:p.Ter871Trp, XP_024302672.1:p.Ter811Trp, XP_024302673.1:p.Ter806Trp, XP_011513793.1:p.Ter876Trp, XP_024302670.1:p.Ter876Trp, NP_001093167.1:p.Ter871Trp, XP_011513795.1:p.Ter876Trp, XP_047276738.1:p.Ter876Trp, XP_047276739.1:p.Ter806Trp, XP_047276740.1:p.Ter658Trp

Select item 147902645113.

rs1479026451 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:6771691 (GRCh38)
7:6811322 (GRCh37)
Canonical SPDI:: NC_000007.14:6771690:G:A
Gene:: RSPH10B2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000007.14:g.6771691G>A, NC_000007.13:g.6811322G>A, XM_005249833.5:c.478G>A, XM_005249833.4:c.478G>A, XM_005249833.3:c.478G>A, XM_005249833.2:c.478G>A, XM_005249833.1:c.478G>A, XM_006715766.3:c.1117G>A, XM_006715766.2:c.1117G>A, XM_006715766.1:c.1117G>A, XM_024446908.2:c.1117G>A, XM_024446908.1:c.1117G>A, XM_024446903.2:c.1102G>A, XM_024446903.1:c.1102G>A, XM_024446904.2:c.1117G>A, XM_024446904.1:c.1117G>A, XM_024446905.2:c.1102G>A, XM_024446905.1:c.1102G>A, XM_011515491.2:c.1117G>A, XM_011515491.1:c.1117G>A, XM_024446902.2:c.1117G>A, XM_024446902.1:c.1117G>A, NM_001099697.2:c.1102G>A, NM_001099697.1:c.1102G>A, XM_011515493.2:c.1117G>A, XM_011515493.1:c.1117G>A, XM_024446906.2:c.1117G>A, XM_024446906.1:c.1117G>A, XM_047420782.1:c.1117G>A, XM_047420783.1:c.1102G>A, XM_047420784.1:c.463G>A, XP_005249890.1:p.Glu160Lys, XP_006715829.1:p.Glu373Lys, XP_024302676.1:p.Glu373Lys, XP_024302671.1:p.Glu368Lys, XP_024302672.1:p.Glu373Lys, XP_024302673.1:p.Glu368Lys, XP_011513793.1:p.Glu373Lys, XP_024302670.1:p.Glu373Lys, NP_001093167.1:p.Glu368Lys, XP_011513795.1:p.Glu373Lys, XP_024302674.1:p.Glu373Lys, XP_047276738.1:p.Glu373Lys, XP_047276739.1:p.Glu368Lys, XP_047276740.1:p.Glu155Lys

Select item 147896525814.

rs1478965258 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:6791956 (GRCh38)
7:6831587 (GRCh37)
Canonical SPDI:: NC_000007.14:6791955:A:G
Gene:: RSPH10B2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000007.14:g.6791956A>G, NC_000007.13:g.6831587A>G, XM_005249833.5:c.1568A>G, XM_005249833.4:c.1568A>G, XM_005249833.3:c.1568A>G, XM_005249833.2:c.1568A>G, XM_005249833.1:c.1568A>G, XM_006715766.3:c.2207A>G, XM_006715766.2:c.2207A>G, XM_006715766.1:c.2207A>G, XM_024446903.2:c.2192A>G, XM_024446903.1:c.2192A>G, XM_024446904.2:c.2012A>G, XM_024446904.1:c.2012A>G, XM_024446905.2:c.1997A>G, XM_024446905.1:c.1997A>G, XM_011515491.2:c.2207A>G, XM_011515491.1:c.2207A>G, XM_024446902.2:c.2207A>G, XM_024446902.1:c.2207A>G, NM_001099697.2:c.2192A>G, NM_001099697.1:c.2192A>G, XM_011515493.2:c.2207A>G, XM_011515493.1:c.2207A>G, XM_024446906.2:c.2207A>G, XM_024446906.1:c.2207A>G, XM_047420782.1:c.2207A>G, XM_047420783.1:c.1997A>G, XM_047420784.1:c.1553A>G, XP_005249890.1:p.Lys523Arg, XP_006715829.1:p.Lys736Arg, XP_024302671.1:p.Lys731Arg, XP_024302672.1:p.Lys671Arg, XP_024302673.1:p.Lys666Arg, XP_011513793.1:p.Lys736Arg, XP_024302670.1:p.Lys736Arg, NP_001093167.1:p.Lys731Arg, XP_011513795.1:p.Lys736Arg, XP_024302674.1:p.Lys736Arg, XP_047276738.1:p.Lys736Arg, XP_047276739.1:p.Lys666Arg, XP_047276740.1:p.Lys518Arg

Select item 147810398815.

rs1478103988 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:6798364 (GRCh38)
7:6837995 (GRCh37)
Canonical SPDI:: NC_000007.14:6798363:C:A
Gene:: RSPH10B2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000084/1 (ALFA)
A=0.000006/1 (GnomAD_exomes)
A=0.000032/3 (GnomAD)
HGVS:: NC_000007.14:g.6798364C>A, NC_000007.13:g.6837995C>A, XM_005249833.5:c.1810C>A, XM_005249833.4:c.1810C>A, XM_005249833.3:c.1810C>A, XM_005249833.2:c.1810C>A, XM_005249833.1:c.1810C>A, XM_006715766.3:c.2449C>A, XM_006715766.2:c.2449C>A, XM_006715766.1:c.2449C>A, XM_024446903.2:c.2434C>A, XM_024446903.1:c.2434C>A, XM_024446904.2:c.2254C>A, XM_024446904.1:c.2254C>A, XM_024446905.2:c.2239C>A, XM_024446905.1:c.2239C>A, XM_011515491.2:c.2449C>A, XM_011515491.1:c.2449C>A, XM_024446902.2:c.2449C>A, XM_024446902.1:c.2449C>A, NM_001099697.2:c.2434C>A, NM_001099697.1:c.2434C>A, XM_011515493.2:c.2449C>A, XM_011515493.1:c.2449C>A, XM_047420782.1:c.2449C>A, XM_047420783.1:c.2239C>A, XM_047420784.1:c.1795C>A, XP_005249890.1:p.Leu604Met, XP_006715829.1:p.Leu817Met, XP_024302671.1:p.Leu812Met, XP_024302672.1:p.Leu752Met, XP_024302673.1:p.Leu747Met, XP_011513793.1:p.Leu817Met, XP_024302670.1:p.Leu817Met, NP_001093167.1:p.Leu812Met, XP_011513795.1:p.Leu817Met, XP_047276738.1:p.Leu817Met, XP_047276739.1:p.Leu747Met, XP_047276740.1:p.Leu599Met

Select item 147370060816.

rs1473700608 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:6766850 (GRCh38)
7:6806481 (GRCh37)
Canonical SPDI:: NC_000007.14:6766849:C:T
Gene:: RSPH10B2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000007.14:g.6766850C>T, NC_000007.13:g.6806481C>T, XM_005249833.5:c.114C>T, XM_005249833.4:c.114C>T, XM_005249833.3:c.114C>T, XM_005249833.2:c.114C>T, XM_005249833.1:c.114C>T, XM_006715766.3:c.753C>T, XM_006715766.2:c.753C>T, XM_006715766.1:c.753C>T, XM_024446908.2:c.753C>T, XM_024446908.1:c.753C>T, XM_024446903.2:c.753C>T, XM_024446903.1:c.753C>T, XM_024446904.2:c.753C>T, XM_024446904.1:c.753C>T, XM_024446905.2:c.753C>T, XM_024446905.1:c.753C>T, XM_011515491.2:c.753C>T, XM_011515491.1:c.753C>T, XM_024446902.2:c.753C>T, XM_024446902.1:c.753C>T, NM_001099697.2:c.753C>T, NM_001099697.1:c.753C>T, XM_011515493.2:c.753C>T, XM_011515493.1:c.753C>T, XM_024446906.2:c.753C>T, XM_024446906.1:c.753C>T, XM_047420782.1:c.753C>T, XM_047420783.1:c.753C>T, XM_047420784.1:c.114C>T

Select item 147361767317.

rs1473617673 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:6796703 (GRCh38)
7:6836334 (GRCh37)
Canonical SPDI:: NC_000007.14:6796702:A:T
Gene:: RSPH10B2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.6796703A>T, NC_000007.13:g.6836334A>T, XM_005249833.5:c.1745A>T, XM_005249833.4:c.1745A>T, XM_005249833.3:c.1745A>T, XM_005249833.2:c.1745A>T, XM_005249833.1:c.1745A>T, XM_006715766.3:c.2384A>T, XM_006715766.2:c.2384A>T, XM_006715766.1:c.2384A>T, XM_024446903.2:c.2369A>T, XM_024446903.1:c.2369A>T, XM_024446904.2:c.2189A>T, XM_024446904.1:c.2189A>T, XM_024446905.2:c.2174A>T, XM_024446905.1:c.2174A>T, XM_011515491.2:c.2384A>T, XM_011515491.1:c.2384A>T, XM_024446902.2:c.2384A>T, XM_024446902.1:c.2384A>T, NM_001099697.2:c.2369A>T, NM_001099697.1:c.2369A>T, XM_011515493.2:c.2384A>T, XM_011515493.1:c.2384A>T, XM_047420782.1:c.2384A>T, XM_047420783.1:c.2174A>T, XM_047420784.1:c.1730A>T, XP_005249890.1:p.Asp582Val, XP_006715829.1:p.Asp795Val, XP_024302671.1:p.Asp790Val, XP_024302672.1:p.Asp730Val, XP_024302673.1:p.Asp725Val, XP_011513793.1:p.Asp795Val, XP_024302670.1:p.Asp795Val, NP_001093167.1:p.Asp790Val, XP_011513795.1:p.Asp795Val, XP_047276738.1:p.Asp795Val, XP_047276739.1:p.Asp725Val, XP_047276740.1:p.Asp577Val

Select item 147254993918.

rs1472549939 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:6768686 (GRCh38)
7:6808317 (GRCh37)
Canonical SPDI:: NC_000007.14:6768685:C:T
Gene:: RSPH10B2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00003/1 (GnomAD)
HGVS:: NC_000007.14:g.6768686C>T, NC_000007.13:g.6808317C>T, XM_005249833.5:c.238C>T, XM_005249833.4:c.238C>T, XM_005249833.3:c.238C>T, XM_005249833.2:c.238C>T, XM_005249833.1:c.238C>T, XM_006715766.3:c.877C>T, XM_006715766.2:c.877C>T, XM_006715766.1:c.877C>T, XM_024446908.2:c.877C>T, XM_024446908.1:c.877C>T, XM_024446903.2:c.877C>T, XM_024446903.1:c.877C>T, XM_024446904.2:c.877C>T, XM_024446904.1:c.877C>T, XM_024446905.2:c.877C>T, XM_024446905.1:c.877C>T, XM_011515491.2:c.877C>T, XM_011515491.1:c.877C>T, XM_024446902.2:c.877C>T, XM_024446902.1:c.877C>T, NM_001099697.2:c.877C>T, NM_001099697.1:c.877C>T, XM_011515493.2:c.877C>T, XM_011515493.1:c.877C>T, XM_024446906.2:c.877C>T, XM_024446906.1:c.877C>T, XM_047420782.1:c.877C>T, XM_047420783.1:c.877C>T, XM_047420784.1:c.238C>T, XP_005249890.1:p.Arg80Cys, XP_006715829.1:p.Arg293Cys, XP_024302676.1:p.Arg293Cys, XP_024302671.1:p.Arg293Cys, XP_024302672.1:p.Arg293Cys, XP_024302673.1:p.Arg293Cys, XP_011513793.1:p.Arg293Cys, XP_024302670.1:p.Arg293Cys, NP_001093167.1:p.Arg293Cys, XP_011513795.1:p.Arg293Cys, XP_024302674.1:p.Arg293Cys, XP_047276738.1:p.Arg293Cys, XP_047276739.1:p.Arg293Cys, XP_047276740.1:p.Arg80Cys

Select item 147248011919.

rs1472480119 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:6781351 (GRCh38)
7:6820982 (GRCh37)
Canonical SPDI:: NC_000007.14:6781350:C:T
Gene:: RSPH10B2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000084/1 (ALFA)
T=0.000009/1 (GnomAD)
HGVS:: NC_000007.14:g.6781351C>T, NC_000007.13:g.6820982C>T, XM_005249833.5:c.1009C>T, XM_005249833.4:c.1009C>T, XM_005249833.3:c.1009C>T, XM_005249833.2:c.1009C>T, XM_005249833.1:c.1009C>T, XM_006715766.3:c.1648C>T, XM_006715766.2:c.1648C>T, XM_006715766.1:c.1648C>T, XM_024446908.2:c.*8C>T, XM_024446908.1:c.*8C>T, XM_024446903.2:c.1633C>T, XM_024446903.1:c.1633C>T, XM_024446904.2:c.1453C>T, XM_024446904.1:c.1453C>T, XM_024446905.2:c.1438C>T, XM_024446905.1:c.1438C>T, XM_011515491.2:c.1648C>T, XM_011515491.1:c.1648C>T, XM_024446902.2:c.1648C>T, XM_024446902.1:c.1648C>T, NM_001099697.2:c.1633C>T, NM_001099697.1:c.1633C>T, XM_011515493.2:c.1648C>T, XM_011515493.1:c.1648C>T, XM_024446906.2:c.1648C>T, XM_024446906.1:c.1648C>T, XM_047420782.1:c.1648C>T, XM_047420783.1:c.1438C>T, XM_047420784.1:c.994C>T, XP_005249890.1:p.Arg337Trp, XP_006715829.1:p.Arg550Trp, XP_024302671.1:p.Arg545Trp, XP_024302672.1:p.Arg485Trp, XP_024302673.1:p.Arg480Trp, XP_011513793.1:p.Arg550Trp, XP_024302670.1:p.Arg550Trp, NP_001093167.1:p.Arg545Trp, XP_011513795.1:p.Arg550Trp, XP_024302674.1:p.Arg550Trp, XP_047276738.1:p.Arg550Trp, XP_047276739.1:p.Arg480Trp, XP_047276740.1:p.Arg332Trp

Select item 147093758220.

rs1470937582 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:6759142 (GRCh38)
7:6798773 (GRCh37)
Canonical SPDI:: NC_000007.14:6759141:G:T
Gene:: RSPH10B2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00008/1 (ALFA)
T=0.00009/5 (GnomAD)
HGVS:: NC_000007.14:g.6759142G>T, NC_000007.13:g.6798773G>T, XM_006715766.3:c.313G>T, XM_006715766.2:c.313G>T, XM_006715766.1:c.313G>T, XM_024446908.2:c.313G>T, XM_024446908.1:c.313G>T, XM_024446903.2:c.313G>T, XM_024446903.1:c.313G>T, XM_024446904.2:c.313G>T, XM_024446904.1:c.313G>T, XM_024446905.2:c.313G>T, XM_024446905.1:c.313G>T, XM_011515491.2:c.313G>T, XM_011515491.1:c.313G>T, XM_024446902.2:c.313G>T, XM_024446902.1:c.313G>T, NM_001099697.2:c.313G>T, NM_001099697.1:c.313G>T, XM_011515493.2:c.313G>T, XM_011515493.1:c.313G>T, XM_024446906.2:c.313G>T, XM_024446906.1:c.313G>T, XM_047420782.1:c.313G>T, XM_047420783.1:c.313G>T, XP_006715829.1:p.Gly105Cys, XP_024302676.1:p.Gly105Cys, XP_024302671.1:p.Gly105Cys, XP_024302672.1:p.Gly105Cys, XP_024302673.1:p.Gly105Cys, XP_011513793.1:p.Gly105Cys, XP_024302670.1:p.Gly105Cys, NP_001093167.1:p.Gly105Cys, XP_011513795.1:p.Gly105Cys, XP_024302674.1:p.Gly105Cys, XP_047276738.1:p.Gly105Cys, XP_047276739.1:p.Gly105Cys

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dbSNP

Result Filters

Clinical Significance

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