SNP Links for Protein (Select 23111028) - SNP

Select item 14910002051.

rs1491000205 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:48121302 (GRCh38)
17:46198664 (GRCh37)
Canonical SPDI:: NC_000017.11:48121301:C:T
Gene:: SNX11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.48121302C>T, NC_000017.10:g.46198664C>T, XM_005257262.4:c.583C>T, XM_005257262.3:c.583C>T, XM_005257262.2:c.583C>T, XM_005257262.1:c.583C>T, XM_005257260.4:c.607C>T, XM_005257260.3:c.607C>T, XM_005257260.2:c.607C>T, XM_005257260.1:c.607C>T, XM_011524697.3:c.607C>T, XM_011524697.2:c.607C>T, XM_011524697.1:c.607C>T, NM_013323.3:c.607C>T, NM_013323.2:c.607C>T, NM_152244.2:c.607C>T, NM_152244.1:c.607C>T, NM_001330320.2:c.583C>T, NM_001330320.1:c.583C>T, XM_024450736.2:c.388C>T, XM_024450736.1:c.388C>T, XM_047435873.1:c.583C>T, XP_005257319.1:p.His195Tyr, XP_005257317.1:p.His203Tyr, XP_011522999.1:p.His203Tyr, NP_037455.2:p.His203Tyr, NP_689450.1:p.His203Tyr, NP_001317249.1:p.His195Tyr, XP_024306504.1:p.His130Tyr, XP_047291829.1:p.His195Tyr

Select item 14891335802.

rs1489133580 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:48121293 (GRCh38)
17:46198655 (GRCh37)
Canonical SPDI:: NC_000017.11:48121292:G:T
Gene:: SNX11 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.48121293G>T, NC_000017.10:g.46198655G>T, XM_005257262.4:c.574G>T, XM_005257262.3:c.574G>T, XM_005257262.2:c.574G>T, XM_005257262.1:c.574G>T, XM_005257260.4:c.598G>T, XM_005257260.3:c.598G>T, XM_005257260.2:c.598G>T, XM_005257260.1:c.598G>T, XM_011524697.3:c.598G>T, XM_011524697.2:c.598G>T, XM_011524697.1:c.598G>T, NM_013323.3:c.598G>T, NM_013323.2:c.598G>T, NM_152244.2:c.598G>T, NM_152244.1:c.598G>T, NM_001330320.2:c.574G>T, NM_001330320.1:c.574G>T, XM_024450736.2:c.379G>T, XM_024450736.1:c.379G>T, XM_047435873.1:c.574G>T, XP_005257319.1:p.Glu192Ter, XP_005257317.1:p.Glu200Ter, XP_011522999.1:p.Glu200Ter, NP_037455.2:p.Glu200Ter, NP_689450.1:p.Glu200Ter, NP_001317249.1:p.Glu192Ter, XP_024306504.1:p.Glu127Ter, XP_047291829.1:p.Glu192Ter

Select item 14798936313.

rs1479893631 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:48121309 (GRCh38)
17:46198671 (GRCh37)
Canonical SPDI:: NC_000017.11:48121308:A:T
Gene:: SNX11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.48121309A>T, NC_000017.10:g.46198671A>T, XM_005257262.4:c.590A>T, XM_005257262.3:c.590A>T, XM_005257262.2:c.590A>T, XM_005257262.1:c.590A>T, XM_005257260.4:c.614A>T, XM_005257260.3:c.614A>T, XM_005257260.2:c.614A>T, XM_005257260.1:c.614A>T, XM_011524697.3:c.614A>T, XM_011524697.2:c.614A>T, XM_011524697.1:c.614A>T, NM_013323.3:c.614A>T, NM_013323.2:c.614A>T, NM_152244.2:c.614A>T, NM_152244.1:c.614A>T, NM_001330320.2:c.590A>T, NM_001330320.1:c.590A>T, XM_024450736.2:c.395A>T, XM_024450736.1:c.395A>T, XM_047435873.1:c.590A>T, XP_005257319.1:p.Glu197Val, XP_005257317.1:p.Glu205Val, XP_011522999.1:p.Glu205Val, NP_037455.2:p.Glu205Val, NP_689450.1:p.Glu205Val, NP_001317249.1:p.Glu197Val, XP_024306504.1:p.Glu132Val, XP_047291829.1:p.Glu197Val

Select item 14754579464.

rs1475457946 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:48121283 (GRCh38)
17:46198645 (GRCh37)
Canonical SPDI:: NC_000017.11:48121282:T:C
Gene:: SNX11 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.48121283T>C, NC_000017.10:g.46198645T>C, XM_005257262.4:c.564T>C, XM_005257262.3:c.564T>C, XM_005257262.2:c.564T>C, XM_005257262.1:c.564T>C, XM_005257260.4:c.588T>C, XM_005257260.3:c.588T>C, XM_005257260.2:c.588T>C, XM_005257260.1:c.588T>C, XM_011524697.3:c.588T>C, XM_011524697.2:c.588T>C, XM_011524697.1:c.588T>C, NM_013323.3:c.588T>C, NM_013323.2:c.588T>C, NM_152244.2:c.588T>C, NM_152244.1:c.588T>C, NM_001330320.2:c.564T>C, NM_001330320.1:c.564T>C, XM_024450736.2:c.369T>C, XM_024450736.1:c.369T>C, XM_047435873.1:c.564T>C

Select item 14747492305.

rs1474749230 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 17:48119161 (GRCh38)
17:46196523 (GRCh37)
Canonical SPDI:: NC_000017.11:48119160:C:A,NC_000017.11:48119160:C:G
Gene:: SNX11 (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=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.48119161C>A, NC_000017.11:g.48119161C>G, NC_000017.10:g.46196523C>A, NC_000017.10:g.46196523C>G, XM_005257262.4:c.490C>A, XM_005257262.4:c.490C>G, XM_005257262.3:c.490C>A, XM_005257262.3:c.490C>G, XM_005257262.2:c.490C>A, XM_005257262.2:c.490C>G, XM_005257262.1:c.490C>A, XM_005257262.1:c.490C>G, XM_005257260.4:c.514C>A, XM_005257260.4:c.514C>G, XM_005257260.3:c.514C>A, XM_005257260.3:c.514C>G, XM_005257260.2:c.514C>A, XM_005257260.2:c.514C>G, XM_005257260.1:c.514C>A, XM_005257260.1:c.514C>G, XM_011524697.3:c.514C>A, XM_011524697.3:c.514C>G, XM_011524697.2:c.514C>A, XM_011524697.2:c.514C>G, XM_011524697.1:c.514C>A, XM_011524697.1:c.514C>G, NM_013323.3:c.514C>A, NM_013323.3:c.514C>G, NM_013323.2:c.514C>A, NM_013323.2:c.514C>G, NM_152244.2:c.514C>A, NM_152244.2:c.514C>G, NM_152244.1:c.514C>A, NM_152244.1:c.514C>G, NM_001330320.2:c.490C>A, NM_001330320.2:c.490C>G, NM_001330320.1:c.490C>A, NM_001330320.1:c.490C>G, XM_024450736.2:c.295C>A, XM_024450736.2:c.295C>G, XM_024450736.1:c.295C>A, XM_024450736.1:c.295C>G, XM_047435873.1:c.490C>A, XM_047435873.1:c.490C>G, XP_005257319.1:p.Leu164Met, XP_005257319.1:p.Leu164Val, XP_005257317.1:p.Leu172Met, XP_005257317.1:p.Leu172Val, XP_011522999.1:p.Leu172Met, XP_011522999.1:p.Leu172Val, NP_037455.2:p.Leu172Met, NP_037455.2:p.Leu172Val, NP_689450.1:p.Leu172Met, NP_689450.1:p.Leu172Val, NP_001317249.1:p.Leu164Met, NP_001317249.1:p.Leu164Val, XP_024306504.1:p.Leu99Met, XP_024306504.1:p.Leu99Val, XP_047291829.1:p.Leu164Met, XP_047291829.1:p.Leu164Val

Select item 14722122926.

rs1472212292 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:48121392 (GRCh38)
17:46198754 (GRCh37)
Canonical SPDI:: NC_000017.11:48121391:G:T
Gene:: SNX11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.48121392G>T, NC_000017.10:g.46198754G>T, XM_005257262.4:c.673G>T, XM_005257262.3:c.673G>T, XM_005257262.2:c.673G>T, XM_005257262.1:c.673G>T, XM_005257260.4:c.697G>T, XM_005257260.3:c.697G>T, XM_005257260.2:c.697G>T, XM_005257260.1:c.697G>T, XM_011524697.3:c.697G>T, XM_011524697.2:c.697G>T, XM_011524697.1:c.697G>T, NM_013323.3:c.697G>T, NM_013323.2:c.697G>T, NM_152244.2:c.697G>T, NM_152244.1:c.697G>T, NM_001330320.2:c.673G>T, NM_001330320.1:c.673G>T, XM_024450736.2:c.478G>T, XM_024450736.1:c.478G>T, XM_047435873.1:c.673G>T, XP_005257319.1:p.Asp225Tyr, XP_005257317.1:p.Asp233Tyr, XP_011522999.1:p.Asp233Tyr, NP_037455.2:p.Asp233Tyr, NP_689450.1:p.Asp233Tyr, NP_001317249.1:p.Asp225Tyr, XP_024306504.1:p.Asp160Tyr, XP_047291829.1:p.Asp225Tyr

Select item 14717237747.

rs1471723774 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:48119185 (GRCh38)
17:46196547 (GRCh37)
Canonical SPDI:: NC_000017.11:48119184:A:G
Gene:: SNX11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.48119185A>G, NC_000017.10:g.46196547A>G, XM_005257262.4:c.514A>G, XM_005257262.3:c.514A>G, XM_005257262.2:c.514A>G, XM_005257262.1:c.514A>G, XM_005257260.4:c.538A>G, XM_005257260.3:c.538A>G, XM_005257260.2:c.538A>G, XM_005257260.1:c.538A>G, XM_011524697.3:c.538A>G, XM_011524697.2:c.538A>G, XM_011524697.1:c.538A>G, NM_013323.3:c.538A>G, NM_013323.2:c.538A>G, NM_152244.2:c.538A>G, NM_152244.1:c.538A>G, NM_001330320.2:c.514A>G, NM_001330320.1:c.514A>G, XM_024450736.2:c.319A>G, XM_024450736.1:c.319A>G, XM_047435873.1:c.514A>G, XP_005257319.1:p.Ser172Gly, XP_005257317.1:p.Ser180Gly, XP_011522999.1:p.Ser180Gly, NP_037455.2:p.Ser180Gly, NP_689450.1:p.Ser180Gly, NP_001317249.1:p.Ser172Gly, XP_024306504.1:p.Ser107Gly, XP_047291829.1:p.Ser172Gly

Select item 14614541358.

rs1461454135 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:48112060 (GRCh38)
17:46189422 (GRCh37)
Canonical SPDI:: NC_000017.11:48112059:G:A
Gene:: SNX11 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.48112060G>A, NC_000017.10:g.46189422G>A, XM_005257262.4:c.-34G>A, XM_005257262.3:c.-34G>A, XM_005257262.2:c.-34G>A, XM_005257262.1:c.-34G>A, XM_005257260.4:c.17G>A, XM_005257260.3:c.17G>A, XM_005257260.2:c.17G>A, XM_005257260.1:c.17G>A, XM_011524697.3:c.17G>A, XM_011524697.2:c.17G>A, XM_011524697.1:c.17G>A, NM_013323.3:c.17G>A, NM_013323.2:c.17G>A, NM_152244.2:c.17G>A, NM_152244.1:c.17G>A, NM_001330320.2:c.-34G>A, NM_001330320.1:c.-34G>A, XM_047435873.1:c.-34G>A, XP_005257317.1:p.Arg6Lys, XP_011522999.1:p.Arg6Lys, NP_037455.2:p.Arg6Lys, NP_689450.1:p.Arg6Lys

Select item 14611202269.

rs1461120226 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:48119144 (GRCh38)
17:46196506 (GRCh37)
Canonical SPDI:: NC_000017.11:48119143:G:C
Gene:: SNX11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.48119144G>C, NC_000017.10:g.46196506G>C, XM_005257262.4:c.473G>C, XM_005257262.3:c.473G>C, XM_005257262.2:c.473G>C, XM_005257262.1:c.473G>C, XM_005257260.4:c.497G>C, XM_005257260.3:c.497G>C, XM_005257260.2:c.497G>C, XM_005257260.1:c.497G>C, XM_011524697.3:c.497G>C, XM_011524697.2:c.497G>C, XM_011524697.1:c.497G>C, NM_013323.3:c.497G>C, NM_013323.2:c.497G>C, NM_152244.2:c.497G>C, NM_152244.1:c.497G>C, NM_001330320.2:c.473G>C, NM_001330320.1:c.473G>C, XM_024450736.2:c.278G>C, XM_024450736.1:c.278G>C, XM_047435873.1:c.473G>C, XP_005257319.1:p.Arg158Thr, XP_005257317.1:p.Arg166Thr, XP_011522999.1:p.Arg166Thr, NP_037455.2:p.Arg166Thr, NP_689450.1:p.Arg166Thr, NP_001317249.1:p.Arg158Thr, XP_024306504.1:p.Arg93Thr, XP_047291829.1:p.Arg158Thr

Select item 145421125310.

rs1454211253 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:48118978 (GRCh38)
17:46196340 (GRCh37)
Canonical SPDI:: NC_000017.11:48118977:C:T
Gene:: SNX11 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.48118978C>T, NC_000017.10:g.46196340C>T, XM_005257262.4:c.307C>T, XM_005257262.3:c.307C>T, XM_005257262.2:c.307C>T, XM_005257262.1:c.307C>T, XM_005257260.4:c.331C>T, XM_005257260.3:c.331C>T, XM_005257260.2:c.331C>T, XM_005257260.1:c.331C>T, XM_011524697.3:c.331C>T, XM_011524697.2:c.331C>T, XM_011524697.1:c.331C>T, NM_013323.3:c.331C>T, NM_013323.2:c.331C>T, NM_152244.2:c.331C>T, NM_152244.1:c.331C>T, NM_001330320.2:c.307C>T, NM_001330320.1:c.307C>T, XM_024450736.2:c.112C>T, XM_024450736.1:c.112C>T, XM_047435873.1:c.307C>T

Select item 145053458611.

rs1450534586 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:48119174 (GRCh38)
17:46196536 (GRCh37)
Canonical SPDI:: NC_000017.11:48119173:A:G
Gene:: SNX11 (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=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.48119174A>G, NC_000017.10:g.46196536A>G, XM_005257262.4:c.503A>G, XM_005257262.3:c.503A>G, XM_005257262.2:c.503A>G, XM_005257262.1:c.503A>G, XM_005257260.4:c.527A>G, XM_005257260.3:c.527A>G, XM_005257260.2:c.527A>G, XM_005257260.1:c.527A>G, XM_011524697.3:c.527A>G, XM_011524697.2:c.527A>G, XM_011524697.1:c.527A>G, NM_013323.3:c.527A>G, NM_013323.2:c.527A>G, NM_152244.2:c.527A>G, NM_152244.1:c.527A>G, NM_001330320.2:c.503A>G, NM_001330320.1:c.503A>G, XM_024450736.2:c.308A>G, XM_024450736.1:c.308A>G, XM_047435873.1:c.503A>G, XP_005257319.1:p.Asp168Gly, XP_005257317.1:p.Asp176Gly, XP_011522999.1:p.Asp176Gly, NP_037455.2:p.Asp176Gly, NP_689450.1:p.Asp176Gly, NP_001317249.1:p.Asp168Gly, XP_024306504.1:p.Asp103Gly, XP_047291829.1:p.Asp168Gly

Select item 143378819112.

rs1433788191 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:48118736 (GRCh38)
17:46196098 (GRCh37)
Canonical SPDI:: NC_000017.11:48118735:T:C
Gene:: SNX11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.48118736T>C, NC_000017.10:g.46196098T>C, XM_005257262.4:c.239T>C, XM_005257262.3:c.239T>C, XM_005257262.2:c.239T>C, XM_005257262.1:c.239T>C, XM_005257260.4:c.263T>C, XM_005257260.3:c.263T>C, XM_005257260.2:c.263T>C, XM_005257260.1:c.263T>C, XM_011524697.3:c.263T>C, XM_011524697.2:c.263T>C, XM_011524697.1:c.263T>C, NM_013323.3:c.263T>C, NM_013323.2:c.263T>C, NM_152244.2:c.263T>C, NM_152244.1:c.263T>C, NM_001330320.2:c.239T>C, NM_001330320.1:c.239T>C, XM_024450736.2:c.44T>C, XM_024450736.1:c.44T>C, XM_047435873.1:c.239T>C, XP_005257319.1:p.Phe80Ser, XP_005257317.1:p.Phe88Ser, XP_011522999.1:p.Phe88Ser, NP_037455.2:p.Phe88Ser, NP_689450.1:p.Phe88Ser, NP_001317249.1:p.Phe80Ser, XP_024306504.1:p.Phe15Ser, XP_047291829.1:p.Phe80Ser

Select item 143004298313.

rs1430042983 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:48118739 (GRCh38)
17:46196101 (GRCh37)
Canonical SPDI:: NC_000017.11:48118738:T:C
Gene:: SNX11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.48118739T>C, NC_000017.10:g.46196101T>C, XM_005257262.4:c.242T>C, XM_005257262.3:c.242T>C, XM_005257262.2:c.242T>C, XM_005257262.1:c.242T>C, XM_005257260.4:c.266T>C, XM_005257260.3:c.266T>C, XM_005257260.2:c.266T>C, XM_005257260.1:c.266T>C, XM_011524697.3:c.266T>C, XM_011524697.2:c.266T>C, XM_011524697.1:c.266T>C, NM_013323.3:c.266T>C, NM_013323.2:c.266T>C, NM_152244.2:c.266T>C, NM_152244.1:c.266T>C, NM_001330320.2:c.242T>C, NM_001330320.1:c.242T>C, XM_024450736.2:c.47T>C, XM_024450736.1:c.47T>C, XM_047435873.1:c.242T>C, XP_005257319.1:p.Phe81Ser, XP_005257317.1:p.Phe89Ser, XP_011522999.1:p.Phe89Ser, NP_037455.2:p.Phe89Ser, NP_689450.1:p.Phe89Ser, NP_001317249.1:p.Phe81Ser, XP_024306504.1:p.Phe16Ser, XP_047291829.1:p.Phe81Ser

Select item 142653150914.

rs1426531509 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:48119114 (GRCh38)
17:46196476 (GRCh37)
Canonical SPDI:: NC_000017.11:48119113:T:C
Gene:: SNX11 (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=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.48119114T>C, NC_000017.10:g.46196476T>C, XM_005257262.4:c.443T>C, XM_005257262.3:c.443T>C, XM_005257262.2:c.443T>C, XM_005257262.1:c.443T>C, XM_005257260.4:c.467T>C, XM_005257260.3:c.467T>C, XM_005257260.2:c.467T>C, XM_005257260.1:c.467T>C, XM_011524697.3:c.467T>C, XM_011524697.2:c.467T>C, XM_011524697.1:c.467T>C, NM_013323.3:c.467T>C, NM_013323.2:c.467T>C, NM_152244.2:c.467T>C, NM_152244.1:c.467T>C, NM_001330320.2:c.443T>C, NM_001330320.1:c.443T>C, XM_024450736.2:c.248T>C, XM_024450736.1:c.248T>C, XM_047435873.1:c.443T>C, XP_005257319.1:p.Met148Thr, XP_005257317.1:p.Met156Thr, XP_011522999.1:p.Met156Thr, NP_037455.2:p.Met156Thr, NP_689450.1:p.Met156Thr, NP_001317249.1:p.Met148Thr, XP_024306504.1:p.Met83Thr, XP_047291829.1:p.Met148Thr

Select item 142113582615.

rs1421135826 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:48112596 (GRCh38)
17:46189958 (GRCh37)
Canonical SPDI:: NC_000017.11:48112595:A:G
Gene:: SNX11 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.00011/2 (TOMMO)
HGVS:: NC_000017.11:g.48112596A>G, NC_000017.10:g.46189958A>G, XM_005257262.4:c.41A>G, XM_005257262.3:c.41A>G, XM_005257262.2:c.41A>G, XM_005257262.1:c.41A>G, XM_005257260.4:c.65A>G, XM_005257260.3:c.65A>G, XM_005257260.2:c.65A>G, XM_005257260.1:c.65A>G, XM_011524697.3:c.65A>G, XM_011524697.2:c.65A>G, XM_011524697.1:c.65A>G, NM_013323.3:c.65A>G, NM_013323.2:c.65A>G, NM_152244.2:c.65A>G, NM_152244.1:c.65A>G, NM_001330320.2:c.41A>G, NM_001330320.1:c.41A>G, XM_047435873.1:c.41A>G, XP_005257319.1:p.Gln14Arg, XP_005257317.1:p.Gln22Arg, XP_011522999.1:p.Gln22Arg, NP_037455.2:p.Gln22Arg, NP_689450.1:p.Gln22Arg, NP_001317249.1:p.Gln14Arg, XP_047291829.1:p.Gln14Arg

Select item 139814825916.

rs1398148259 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:48121454 (GRCh38)
17:46198816 (GRCh37)
Canonical SPDI:: NC_000017.11:48121453:A:G
Gene:: SNX11 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.48121454A>G, NC_000017.10:g.46198816A>G, XM_005257262.4:c.735A>G, XM_005257262.3:c.735A>G, XM_005257262.2:c.735A>G, XM_005257262.1:c.735A>G, XM_005257260.4:c.759A>G, XM_005257260.3:c.759A>G, XM_005257260.2:c.759A>G, XM_005257260.1:c.759A>G, XM_011524697.3:c.759A>G, XM_011524697.2:c.759A>G, XM_011524697.1:c.759A>G, NM_013323.3:c.759A>G, NM_013323.2:c.759A>G, NM_152244.2:c.759A>G, NM_152244.1:c.759A>G, NM_001330320.2:c.735A>G, NM_001330320.1:c.735A>G, XM_024450736.2:c.540A>G, XM_024450736.1:c.540A>G, XM_047435873.1:c.735A>G

Select item 139745257317.

rs1397452573 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 17:48121460 (GRCh38)
17:46198822 (GRCh37)
Canonical SPDI:: NC_000017.11:48121459:T:C,NC_000017.11:48121459:T:G
Gene:: SNX11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
G=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.48121460T>C, NC_000017.11:g.48121460T>G, NC_000017.10:g.46198822T>C, NC_000017.10:g.46198822T>G, XM_005257262.4:c.741T>C, XM_005257262.4:c.741T>G, XM_005257262.3:c.741T>C, XM_005257262.3:c.741T>G, XM_005257262.2:c.741T>C, XM_005257262.2:c.741T>G, XM_005257262.1:c.741T>C, XM_005257262.1:c.741T>G, XM_005257260.4:c.765T>C, XM_005257260.4:c.765T>G, XM_005257260.3:c.765T>C, XM_005257260.3:c.765T>G, XM_005257260.2:c.765T>C, XM_005257260.2:c.765T>G, XM_005257260.1:c.765T>C, XM_005257260.1:c.765T>G, XM_011524697.3:c.765T>C, XM_011524697.3:c.765T>G, XM_011524697.2:c.765T>C, XM_011524697.2:c.765T>G, XM_011524697.1:c.765T>C, XM_011524697.1:c.765T>G, NM_013323.3:c.765T>C, NM_013323.3:c.765T>G, NM_013323.2:c.765T>C, NM_013323.2:c.765T>G, NM_152244.2:c.765T>C, NM_152244.2:c.765T>G, NM_152244.1:c.765T>C, NM_152244.1:c.765T>G, NM_001330320.2:c.741T>C, NM_001330320.2:c.741T>G, NM_001330320.1:c.741T>C, NM_001330320.1:c.741T>G, XM_024450736.2:c.546T>C, XM_024450736.2:c.546T>G, XM_024450736.1:c.546T>C, XM_024450736.1:c.546T>G, XM_047435873.1:c.741T>C, XM_047435873.1:c.741T>G, XP_005257319.1:p.His247Gln, XP_005257317.1:p.His255Gln, XP_011522999.1:p.His255Gln, NP_037455.2:p.His255Gln, NP_689450.1:p.His255Gln, NP_001317249.1:p.His247Gln, XP_024306504.1:p.His182Gln, XP_047291829.1:p.His247Gln

Select item 139124119718.

rs1391241197 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:48113360 (GRCh38)
17:46190722 (GRCh37)
Canonical SPDI:: NC_000017.11:48113359:C:T
Gene:: SNX11 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.48113360C>T, NC_000017.10:g.46190722C>T, XM_005257262.4:c.165C>T, XM_005257262.3:c.165C>T, XM_005257262.2:c.165C>T, XM_005257262.1:c.165C>T, XM_005257260.4:c.189C>T, XM_005257260.3:c.189C>T, XM_005257260.2:c.189C>T, XM_005257260.1:c.189C>T, XM_011524697.3:c.189C>T, XM_011524697.2:c.189C>T, XM_011524697.1:c.189C>T, NM_013323.3:c.189C>T, NM_013323.2:c.189C>T, NM_152244.2:c.189C>T, NM_152244.1:c.189C>T, NM_001330320.2:c.165C>T, NM_001330320.1:c.165C>T, XM_024450736.2:c.-29C>T, XM_024450736.1:c.-29C>T, XM_047435873.1:c.165C>T

Select item 138965955519.

rs1389659555 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:48118786 (GRCh38)
17:46196148 (GRCh37)
Canonical SPDI:: NC_000017.11:48118785:C:T
Gene:: SNX11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.48118786C>T, NC_000017.10:g.46196148C>T, XM_005257262.4:c.289C>T, XM_005257262.3:c.289C>T, XM_005257262.2:c.289C>T, XM_005257262.1:c.289C>T, XM_005257260.4:c.313C>T, XM_005257260.3:c.313C>T, XM_005257260.2:c.313C>T, XM_005257260.1:c.313C>T, XM_011524697.3:c.313C>T, XM_011524697.2:c.313C>T, XM_011524697.1:c.313C>T, NM_013323.3:c.313C>T, NM_013323.2:c.313C>T, NM_152244.2:c.313C>T, NM_152244.1:c.313C>T, NM_001330320.2:c.289C>T, NM_001330320.1:c.289C>T, XM_024450736.2:c.94C>T, XM_024450736.1:c.94C>T, XM_047435873.1:c.289C>T, XP_005257319.1:p.His97Tyr, XP_005257317.1:p.His105Tyr, XP_011522999.1:p.His105Tyr, NP_037455.2:p.His105Tyr, NP_689450.1:p.His105Tyr, NP_001317249.1:p.His97Tyr, XP_024306504.1:p.His32Tyr, XP_047291829.1:p.His97Tyr

Select item 138789990520.

rs1387899905 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:48118795 (GRCh38)
17:46196157 (GRCh37)
Canonical SPDI:: NC_000017.11:48118794:G:C
Gene:: SNX11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000016/4 (GnomAD_exomes)
C=0.000091/24 (TOPMED)
C=0.000114/16 (GnomAD)
HGVS:: NC_000017.11:g.48118795G>C, NC_000017.10:g.46196157G>C, XM_005257262.4:c.298G>C, XM_005257262.3:c.298G>C, XM_005257262.2:c.298G>C, XM_005257262.1:c.298G>C, XM_005257260.4:c.322G>C, XM_005257260.3:c.322G>C, XM_005257260.2:c.322G>C, XM_005257260.1:c.322G>C, XM_011524697.3:c.322G>C, XM_011524697.2:c.322G>C, XM_011524697.1:c.322G>C, NM_013323.3:c.322G>C, NM_013323.2:c.322G>C, NM_152244.2:c.322G>C, NM_152244.1:c.322G>C, NM_001330320.2:c.298G>C, NM_001330320.1:c.298G>C, XM_024450736.2:c.103G>C, XM_024450736.1:c.103G>C, XM_047435873.1:c.298G>C, XP_005257319.1:p.Glu100Gln, XP_005257317.1:p.Glu108Gln, XP_011522999.1:p.Glu108Gln, NP_037455.2:p.Glu108Gln, NP_689450.1:p.Glu108Gln, NP_001317249.1:p.Glu100Gln, XP_024306504.1:p.Glu35Gln, XP_047291829.1:p.Glu100Gln

dbSNP

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Result Filters

Validation Status

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Global MAF

Custom range

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Items: 1 to 20 of 252

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