SNP Links for Protein (Select 4506919) - SNP

Links from Protein

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Select item 14903344901.

rs1490334490 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:80220227 (GRCh38)
17:78194026 (GRCh37)
Canonical SPDI:: NC_000017.11:80220226:G:A
Gene:: SGSH (Varview), SLC26A11 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,non_coding_transcript_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.80220227G>A, NC_000017.10:g.78194026G>A, NG_008229.1:g.5174C>T, NM_000199.5:c.87C>T, NM_000199.4:c.87C>T, NM_000199.3:c.87C>T, NM_001352921.3:c.87C>T, NM_001352921.2:c.87C>T, NM_001352921.1:c.87C>T, NM_001352922.2:c.87C>T, NM_001352922.1:c.87C>T, NR_148201.2:n.107C>T, NR_148201.1:n.174C>T, XR_934532.3:n.107C>T, XR_934532.2:n.107C>T, XR_934532.1:n.107C>T, XR_001752590.2:n.107C>T, XR_001752590.1:n.107C>T, XM_011525126.2:c.87C>T, XM_011525126.1:c.87C>T, XR_007065415.1:n.107C>T, XR_007065423.1:n.107C>T, XR_007065417.1:n.107C>T, XR_007065418.1:n.107C>T, XR_007065404.1:n.107C>T, XR_007065409.1:n.107C>T, XR_007065421.1:n.107C>T, XR_007065422.1:n.107C>T, XR_007065420.1:n.107C>T, XR_007065419.1:n.107C>T, XR_007065407.1:n.107C>T, XR_007065414.1:n.107C>T, XR_007065405.1:n.107C>T, XR_007065408.1:n.107C>T, XR_007065416.1:n.107C>T, XR_007065406.1:n.107C>T, XR_007065424.1:n.107C>T, XR_007065403.1:n.107C>T, XR_007065410.1:n.107C>T, XR_007065413.1:n.107C>T, XR_007065411.1:n.107C>T, XR_007065402.1:n.107C>T, XR_007065412.1:n.107C>T, XR_001752585.1:n.107C>T, XR_007065401.1:n.107C>T

Select item 14884229692.

rs1488422969 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:80213847 (GRCh38)
17:78187646 (GRCh37)
Canonical SPDI:: NC_000017.11:80213846:G:A
Gene:: SGSH (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Clinical significance:: likely-benign
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.80213847G>A, NC_000017.10:g.78187646G>A, NG_008229.1:g.11554C>T, NM_000199.5:c.702C>T, NM_000199.4:c.702C>T, NM_000199.3:c.702C>T, NM_001352921.3:c.702C>T, NM_001352921.2:c.702C>T, NM_001352921.1:c.702C>T, NM_001352922.2:c.702C>T, NM_001352922.1:c.702C>T, NR_148201.2:n.616C>T, NR_148201.1:n.683C>T, XR_934532.3:n.722C>T, XR_934532.2:n.722C>T, XR_934532.1:n.722C>T, XR_001752590.2:n.722C>T, XR_001752590.1:n.722C>T, XM_011525126.2:c.702C>T, XM_011525126.1:c.702C>T, XR_007065415.1:n.722C>T, XR_007065423.1:n.722C>T, XR_007065417.1:n.722C>T, XR_007065418.1:n.722C>T, XR_007065404.1:n.722C>T, XR_007065409.1:n.722C>T, XR_007065421.1:n.722C>T, XR_007065422.1:n.722C>T, XR_007065420.1:n.722C>T, XR_007065419.1:n.722C>T, XR_007065407.1:n.722C>T, XR_007065414.1:n.722C>T, XR_007065405.1:n.722C>T, XR_007065408.1:n.722C>T, XR_007065416.1:n.722C>T, XR_007065406.1:n.722C>T, XR_007065424.1:n.722C>T, XR_007065403.1:n.722C>T, XR_007065410.1:n.722C>T, XR_007065413.1:n.722C>T, XR_007065411.1:n.722C>T, XR_007065402.1:n.722C>T, XR_007065412.1:n.722C>T, XR_001752585.1:n.722C>T, XR_007065401.1:n.722C>T

Select item 14869187163.

rs1486918716 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:80210637 (GRCh38)
17:78184436 (GRCh37)
Canonical SPDI:: NC_000017.11:80210636:T:G
Gene:: SGSH (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.80210637T>G, NC_000017.10:g.78184436T>G, NG_032778.1:g.45646T>G, NG_008229.1:g.14764A>C, NM_000199.5:c.1324A>C, NM_000199.4:c.1324A>C, NM_000199.3:c.1324A>C, NM_001352921.3:c.*411A>C, NM_001352921.2:c.*411A>C, NM_001352921.1:c.*411A>C, NM_001352922.2:c.*374A>C, NM_001352922.1:c.*374A>C, NR_148201.2:n.1238A>C, NR_148201.1:n.1305A>C, XR_934532.3:n.1546A>C, XM_011525126.2:c.*544A>C, XR_007065402.1:n.1722A>C, XR_001752585.1:n.1344A>C, XR_007065401.1:n.1344A>C, NP_000190.1:p.Ser442Arg

Select item 14856363194.

rs1485636319 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:80220252 (GRCh38)
17:78194051 (GRCh37)
Canonical SPDI:: NC_000017.11:80220251:C:T
Gene:: SGSH (Varview), SLC26A11 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,non_coding_transcript_variant,missense_variant,upstream_transcript_variant
Validated:: by cluster
HGVS:: NC_000017.11:g.80220252C>T, NC_000017.10:g.78194051C>T, NG_008229.1:g.5149G>A, NM_000199.5:c.62G>A, NM_000199.4:c.62G>A, NM_000199.3:c.62G>A, NM_001352921.3:c.62G>A, NM_001352921.2:c.62G>A, NM_001352921.1:c.62G>A, NM_001352922.2:c.62G>A, NM_001352922.1:c.62G>A, NR_148201.2:n.82G>A, NR_148201.1:n.149G>A, XR_934532.3:n.82G>A, XR_934532.2:n.82G>A, XR_934532.1:n.82G>A, XR_001752590.2:n.82G>A, XR_001752590.1:n.82G>A, XM_011525126.2:c.62G>A, XM_011525126.1:c.62G>A, XR_007065415.1:n.82G>A, XR_007065423.1:n.82G>A, XR_007065417.1:n.82G>A, XR_007065418.1:n.82G>A, XR_007065404.1:n.82G>A, XR_007065409.1:n.82G>A, XR_007065421.1:n.82G>A, XR_007065422.1:n.82G>A, XR_007065420.1:n.82G>A, XR_007065419.1:n.82G>A, XR_007065407.1:n.82G>A, XR_007065414.1:n.82G>A, XR_007065405.1:n.82G>A, XR_007065408.1:n.82G>A, XR_007065416.1:n.82G>A, XR_007065406.1:n.82G>A, XR_007065424.1:n.82G>A, XR_007065403.1:n.82G>A, XR_007065410.1:n.82G>A, XR_007065413.1:n.82G>A, XR_007065411.1:n.82G>A, XR_007065402.1:n.82G>A, XR_007065412.1:n.82G>A, XR_001752585.1:n.82G>A, XR_007065401.1:n.82G>A, NP_000190.1:p.Arg21His, NP_001339850.1:p.Arg21His, NP_001339851.1:p.Arg21His, XP_011523428.1:p.Arg21His

Select item 14846489125.

rs1484648912 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CG [Show Flanks]
Chromosome:: 17:80210718 (GRCh38)
17:78184518 (GRCh37)
Canonical SPDI:: NC_000017.11:80210718:GCG:GCGCG
Gene:: SGSH (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant,3_prime_UTR_variant
Clinical significance:: pathogenic
Validated:: by frequency,by alfa
MAF:: GCGCG=0./0 (ALFA)
GC=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.80210720_80210721dup, NC_000017.10:g.78184519_78184520dup, NG_032778.1:g.45729_45730dup, NG_008229.1:g.14681_14682dup, NM_000199.5:c.1241_1242dup, NM_000199.4:c.1241_1242dup, NM_000199.3:c.1241_1242dup, NM_001352921.3:c.*328_*329dup, NM_001352921.2:c.*328_*329dup, NM_001352921.1:c.*328_*329dup, NM_001352922.2:c.*291_*292dup, NM_001352922.1:c.*291_*292dup, NR_148201.2:n.1155_1156dup, NR_148201.1:n.1222_1223dup, XR_934532.3:n.1463_1464dup, XM_011525126.2:c.*461_*462dup, XR_007065402.1:n.1639_1640dup, XR_001752585.1:n.1261_1262dup, XR_007065401.1:n.1261_1262dup, NP_000190.1:p.Thr415fs

Select item 14819861866.

rs1481986186 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:80212272 (GRCh38)
17:78186071 (GRCh37)
Canonical SPDI:: NC_000017.11:80212271:C:A,NC_000017.11:80212271:C:T
Gene:: SGSH (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.80212272C>A, NC_000017.11:g.80212272C>T, NC_000017.10:g.78186071C>A, NC_000017.10:g.78186071C>T, NG_008229.1:g.13129G>T, NG_008229.1:g.13129G>A, NM_000199.5:c.748G>T, NM_000199.5:c.748G>A, NM_000199.4:c.748G>T, NM_000199.4:c.748G>A, NM_000199.3:c.748G>T, NM_000199.3:c.748G>A, NM_001352921.3:c.748G>T, NM_001352921.3:c.748G>A, NM_001352921.2:c.748G>T, NM_001352921.2:c.748G>A, NM_001352921.1:c.748G>T, NM_001352921.1:c.748G>A, NM_001352922.2:c.748G>T, NM_001352922.2:c.748G>A, NM_001352922.1:c.748G>T, NM_001352922.1:c.748G>A, NR_148201.2:n.662G>T, NR_148201.2:n.662G>A, NR_148201.1:n.729G>T, NR_148201.1:n.729G>A, XR_934532.3:n.768G>T, XR_934532.3:n.768G>A, XR_934532.2:n.768G>T, XR_934532.2:n.768G>A, XR_934532.1:n.768G>T, XR_934532.1:n.768G>A, XR_001752590.2:n.768G>T, XR_001752590.2:n.768G>A, XR_001752590.1:n.768G>T, XR_001752590.1:n.768G>A, XM_011525126.2:c.748G>T, XM_011525126.2:c.748G>A, XM_011525126.1:c.748G>T, XM_011525126.1:c.748G>A, XR_007065415.1:n.768G>T, XR_007065415.1:n.768G>A, XR_007065423.1:n.768G>T, XR_007065423.1:n.768G>A, XR_007065417.1:n.768G>T, XR_007065417.1:n.768G>A, XR_007065418.1:n.768G>T, XR_007065418.1:n.768G>A, XR_007065404.1:n.768G>T, XR_007065404.1:n.768G>A, XR_007065409.1:n.768G>T, XR_007065409.1:n.768G>A, XR_007065421.1:n.768G>T, XR_007065421.1:n.768G>A, XR_007065422.1:n.768G>T, XR_007065422.1:n.768G>A, XR_007065420.1:n.768G>T, XR_007065420.1:n.768G>A, XR_007065419.1:n.768G>T, XR_007065419.1:n.768G>A, XR_007065407.1:n.768G>T, XR_007065407.1:n.768G>A, XR_007065414.1:n.768G>T, XR_007065414.1:n.768G>A, XR_007065405.1:n.768G>T, XR_007065405.1:n.768G>A, XR_007065408.1:n.768G>T, XR_007065408.1:n.768G>A, XR_007065416.1:n.768G>T, XR_007065416.1:n.768G>A, XR_007065406.1:n.768G>T, XR_007065406.1:n.768G>A, XR_007065424.1:n.768G>T, XR_007065424.1:n.768G>A, XR_007065403.1:n.768G>T, XR_007065403.1:n.768G>A, XR_007065410.1:n.768G>T, XR_007065410.1:n.768G>A, XR_007065413.1:n.768G>T, XR_007065413.1:n.768G>A, XR_007065411.1:n.768G>T, XR_007065411.1:n.768G>A, XR_007065402.1:n.768G>T, XR_007065402.1:n.768G>A, XR_007065412.1:n.768G>T, XR_007065412.1:n.768G>A, XR_001752585.1:n.768G>T, XR_001752585.1:n.768G>A, XR_007065401.1:n.768G>T, XR_007065401.1:n.768G>A, NP_000190.1:p.Val250Phe, NP_000190.1:p.Val250Ile, NP_001339850.1:p.Val250Phe, NP_001339850.1:p.Val250Ile, NP_001339851.1:p.Val250Phe, NP_001339851.1:p.Val250Ile, XP_011523428.1:p.Val250Phe, XP_011523428.1:p.Val250Ile

Select item 14798315307.

rs1479831530 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:80214673 (GRCh38)
17:78188472 (GRCh37)
Canonical SPDI:: NC_000017.11:80214672:G:A
Gene:: SGSH (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Clinical significance:: conflicting-interpretations-of-pathogenicity
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.80214673G>A, NC_000017.10:g.78188472G>A, NG_008229.1:g.10728C>T, NM_000199.5:c.448C>T, NM_000199.4:c.448C>T, NM_000199.3:c.448C>T, NM_001352921.3:c.448C>T, NM_001352921.2:c.448C>T, NM_001352921.1:c.448C>T, NM_001352922.2:c.448C>T, NM_001352922.1:c.448C>T, NR_148201.2:n.362C>T, NR_148201.1:n.429C>T, XR_934532.3:n.468C>T, XR_934532.2:n.468C>T, XR_934532.1:n.468C>T, XR_001752590.2:n.468C>T, XR_001752590.1:n.468C>T, XM_011525126.2:c.448C>T, XM_011525126.1:c.448C>T, XR_007065415.1:n.468C>T, XR_007065423.1:n.468C>T, XR_007065417.1:n.468C>T, XR_007065418.1:n.468C>T, XR_007065404.1:n.468C>T, XR_007065409.1:n.468C>T, XR_007065421.1:n.468C>T, XR_007065422.1:n.468C>T, XR_007065420.1:n.468C>T, XR_007065419.1:n.468C>T, XR_007065407.1:n.468C>T, XR_007065414.1:n.468C>T, XR_007065405.1:n.468C>T, XR_007065408.1:n.468C>T, XR_007065416.1:n.468C>T, XR_007065406.1:n.468C>T, XR_007065424.1:n.468C>T, XR_007065403.1:n.468C>T, XR_007065410.1:n.468C>T, XR_007065413.1:n.468C>T, XR_007065411.1:n.468C>T, XR_007065402.1:n.468C>T, XR_007065412.1:n.468C>T, XR_001752585.1:n.468C>T, XR_007065401.1:n.468C>T, NP_000190.1:p.Arg150Trp, NP_001339850.1:p.Arg150Trp, NP_001339851.1:p.Arg150Trp, XP_011523428.1:p.Arg150Trp

Select item 14794562898.

rs1479456289 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:80215121 (GRCh38)
17:78188920 (GRCh37)
Canonical SPDI:: NC_000017.11:80215120:G:A,NC_000017.11:80215120:G:T
Gene:: SGSH (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,non_coding_transcript_variant,intron_variant,synonymous_variant
Clinical significance:: likely-pathogenic,likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.80215121G>A, NC_000017.11:g.80215121G>T, NC_000017.10:g.78188920G>A, NC_000017.10:g.78188920G>T, NG_008229.1:g.10280C>T, NG_008229.1:g.10280C>A, NM_000199.5:c.267C>T, NM_000199.5:c.267C>A, NM_000199.4:c.267C>T, NM_000199.4:c.267C>A, NM_000199.3:c.267C>T, NM_000199.3:c.267C>A, NM_001352921.3:c.267C>T, NM_001352921.3:c.267C>A, NM_001352921.2:c.267C>T, NM_001352921.2:c.267C>A, NM_001352921.1:c.267C>T, NM_001352921.1:c.267C>A, NM_001352922.2:c.267C>T, NM_001352922.2:c.267C>A, NM_001352922.1:c.267C>T, NM_001352922.1:c.267C>A, XR_934532.3:n.287C>T, XR_934532.3:n.287C>A, XR_934532.2:n.287C>T, XR_934532.2:n.287C>A, XR_934532.1:n.287C>T, XR_934532.1:n.287C>A, XR_001752590.2:n.287C>T, XR_001752590.2:n.287C>A, XR_001752590.1:n.287C>T, XR_001752590.1:n.287C>A, XM_011525126.2:c.267C>T, XM_011525126.2:c.267C>A, XM_011525126.1:c.267C>T, XM_011525126.1:c.267C>A, XR_007065415.1:n.287C>T, XR_007065415.1:n.287C>A, XR_007065423.1:n.287C>T, XR_007065423.1:n.287C>A, XR_007065417.1:n.287C>T, XR_007065417.1:n.287C>A, XR_007065418.1:n.287C>T, XR_007065418.1:n.287C>A, XR_007065404.1:n.287C>T, XR_007065404.1:n.287C>A, XR_007065409.1:n.287C>T, XR_007065409.1:n.287C>A, XR_007065421.1:n.287C>T, XR_007065421.1:n.287C>A, XR_007065422.1:n.287C>T, XR_007065422.1:n.287C>A, XR_007065420.1:n.287C>T, XR_007065420.1:n.287C>A, XR_007065419.1:n.287C>T, XR_007065419.1:n.287C>A, XR_007065407.1:n.287C>T, XR_007065407.1:n.287C>A, XR_007065414.1:n.287C>T, XR_007065414.1:n.287C>A, XR_007065405.1:n.287C>T, XR_007065405.1:n.287C>A, XR_007065408.1:n.287C>T, XR_007065408.1:n.287C>A, XR_007065416.1:n.287C>T, XR_007065416.1:n.287C>A, XR_007065406.1:n.287C>T, XR_007065406.1:n.287C>A, XR_007065424.1:n.287C>T, XR_007065424.1:n.287C>A, XR_007065403.1:n.287C>T, XR_007065403.1:n.287C>A, XR_007065410.1:n.287C>T, XR_007065410.1:n.287C>A, XR_007065413.1:n.287C>T, XR_007065413.1:n.287C>A, XR_007065411.1:n.287C>T, XR_007065411.1:n.287C>A, XR_007065402.1:n.287C>T, XR_007065402.1:n.287C>A, XR_007065412.1:n.287C>T, XR_007065412.1:n.287C>A, XR_001752585.1:n.287C>T, XR_001752585.1:n.287C>A, XR_007065401.1:n.287C>T, XR_007065401.1:n.287C>A, NP_000190.1:p.Tyr89Ter, NP_001339850.1:p.Tyr89Ter, NP_001339851.1:p.Tyr89Ter, XP_011523428.1:p.Tyr89Ter

Select item 14787998159.

rs1478799815 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:80220261 (GRCh38)
17:78194060 (GRCh37)
Canonical SPDI:: NC_000017.11:80220260:C:T
Gene:: SGSH (Varview), SLC26A11 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,non_coding_transcript_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.80220261C>T, NC_000017.10:g.78194060C>T, NG_008229.1:g.5140G>A, NM_000199.5:c.53G>A, NM_000199.4:c.53G>A, NM_000199.3:c.53G>A, NM_001352921.3:c.53G>A, NM_001352921.2:c.53G>A, NM_001352921.1:c.53G>A, NM_001352922.2:c.53G>A, NM_001352922.1:c.53G>A, NR_148201.2:n.73G>A, NR_148201.1:n.140G>A, XR_934532.3:n.73G>A, XR_934532.2:n.73G>A, XR_934532.1:n.73G>A, XR_001752590.2:n.73G>A, XR_001752590.1:n.73G>A, XM_011525126.2:c.53G>A, XM_011525126.1:c.53G>A, XR_007065415.1:n.73G>A, XR_007065423.1:n.73G>A, XR_007065417.1:n.73G>A, XR_007065418.1:n.73G>A, XR_007065404.1:n.73G>A, XR_007065409.1:n.73G>A, XR_007065421.1:n.73G>A, XR_007065422.1:n.73G>A, XR_007065420.1:n.73G>A, XR_007065419.1:n.73G>A, XR_007065407.1:n.73G>A, XR_007065414.1:n.73G>A, XR_007065405.1:n.73G>A, XR_007065408.1:n.73G>A, XR_007065416.1:n.73G>A, XR_007065406.1:n.73G>A, XR_007065424.1:n.73G>A, XR_007065403.1:n.73G>A, XR_007065410.1:n.73G>A, XR_007065413.1:n.73G>A, XR_007065411.1:n.73G>A, XR_007065402.1:n.73G>A, XR_007065412.1:n.73G>A, XR_001752585.1:n.73G>A, XR_007065401.1:n.73G>A, NP_000190.1:p.Cys18Tyr, NP_001339850.1:p.Cys18Tyr, NP_001339851.1:p.Cys18Tyr, XP_011523428.1:p.Cys18Tyr

Select item 147588894810.

rs1475888948 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:80214241 (GRCh38)
17:78188040 (GRCh37)
Canonical SPDI:: NC_000017.11:80214240:G:A
Gene:: SGSH (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.80214241G>A, NC_000017.10:g.78188040G>A, NG_008229.1:g.11160C>T, NM_000199.5:c.594C>T, NM_000199.4:c.594C>T, NM_000199.3:c.594C>T, NM_001352921.3:c.594C>T, NM_001352921.2:c.594C>T, NM_001352921.1:c.594C>T, NM_001352922.2:c.594C>T, NM_001352922.1:c.594C>T, NR_148201.2:n.508C>T, NR_148201.1:n.575C>T, XR_934532.3:n.614C>T, XR_934532.2:n.614C>T, XR_934532.1:n.614C>T, XR_001752590.2:n.614C>T, XR_001752590.1:n.614C>T, XM_011525126.2:c.594C>T, XM_011525126.1:c.594C>T, XR_007065415.1:n.614C>T, XR_007065423.1:n.614C>T, XR_007065417.1:n.614C>T, XR_007065418.1:n.614C>T, XR_007065404.1:n.614C>T, XR_007065409.1:n.614C>T, XR_007065421.1:n.614C>T, XR_007065422.1:n.614C>T, XR_007065420.1:n.614C>T, XR_007065419.1:n.614C>T, XR_007065407.1:n.614C>T, XR_007065414.1:n.614C>T, XR_007065405.1:n.614C>T, XR_007065408.1:n.614C>T, XR_007065416.1:n.614C>T, XR_007065406.1:n.614C>T, XR_007065424.1:n.614C>T, XR_007065403.1:n.614C>T, XR_007065410.1:n.614C>T, XR_007065413.1:n.614C>T, XR_007065411.1:n.614C>T, XR_007065402.1:n.614C>T, XR_007065412.1:n.614C>T, XR_001752585.1:n.614C>T, XR_007065401.1:n.614C>T

Select item 147473865311.

rs1474738653 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:80210666 (GRCh38)
17:78184465 (GRCh37)
Canonical SPDI:: NC_000017.11:80210665:T:C
Gene:: SGSH (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.80210666T>C, NC_000017.10:g.78184465T>C, NG_032778.1:g.45675T>C, NG_008229.1:g.14735A>G, NM_000199.5:c.1295A>G, NM_000199.4:c.1295A>G, NM_000199.3:c.1295A>G, NM_001352921.3:c.*382A>G, NM_001352921.2:c.*382A>G, NM_001352921.1:c.*382A>G, NM_001352922.2:c.*345A>G, NM_001352922.1:c.*345A>G, NR_148201.2:n.1209A>G, NR_148201.1:n.1276A>G, XR_934532.3:n.1517A>G, XM_011525126.2:c.*515A>G, XR_007065402.1:n.1693A>G, XR_001752585.1:n.1315A>G, XR_007065401.1:n.1315A>G, NP_000190.1:p.Tyr432Cys

Select item 147455614512.

rs1474556145 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:80210523 (GRCh38)
17:78184322 (GRCh37)
Canonical SPDI:: NC_000017.11:80210522:C:A
Gene:: SGSH (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,3_prime_UTR_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: A=0.0002/1 (ALFA)
HGVS:: NC_000017.11:g.80210523C>A, NC_000017.10:g.78184322C>A, NG_032778.1:g.45532C>A, NG_008229.1:g.14878G>T, NM_000199.5:c.1438G>T, NM_000199.4:c.1438G>T, NM_000199.3:c.1438G>T, NM_001352921.3:c.*525G>T, NM_001352921.2:c.*525G>T, NM_001352921.1:c.*525G>T, NM_001352922.2:c.*488G>T, NM_001352922.1:c.*488G>T, NR_148201.2:n.1352G>T, NR_148201.1:n.1419G>T, XR_934532.3:n.1660G>T, XM_011525126.2:c.*658G>T, XR_007065402.1:n.1836G>T, XR_001752585.1:n.1458G>T, XR_007065401.1:n.1458G>T, NP_000190.1:p.Val480Leu

Select item 147334464613.

rs1473344646 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:80212218 (GRCh38)
17:78186017 (GRCh37)
Canonical SPDI:: NC_000017.11:80212217:C:G
Gene:: SGSH (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.80212218C>G, NC_000017.10:g.78186017C>G, NG_008229.1:g.13183G>C, NM_000199.5:c.802G>C, NM_000199.4:c.802G>C, NM_000199.3:c.802G>C, NM_001352921.3:c.802G>C, NM_001352921.2:c.802G>C, NM_001352921.1:c.802G>C, NM_001352922.2:c.802G>C, NM_001352922.1:c.802G>C, NR_148201.2:n.716G>C, NR_148201.1:n.783G>C, XR_934532.3:n.822G>C, XR_934532.2:n.822G>C, XR_934532.1:n.822G>C, XR_001752590.2:n.822G>C, XR_001752590.1:n.822G>C, XM_011525126.2:c.802G>C, XM_011525126.1:c.802G>C, XR_007065415.1:n.822G>C, XR_007065423.1:n.822G>C, XR_007065417.1:n.822G>C, XR_007065418.1:n.822G>C, XR_007065404.1:n.822G>C, XR_007065409.1:n.822G>C, XR_007065421.1:n.822G>C, XR_007065422.1:n.822G>C, XR_007065420.1:n.822G>C, XR_007065419.1:n.822G>C, XR_007065407.1:n.822G>C, XR_007065414.1:n.822G>C, XR_007065405.1:n.822G>C, XR_007065408.1:n.822G>C, XR_007065416.1:n.822G>C, XR_007065406.1:n.822G>C, XR_007065424.1:n.822G>C, XR_007065403.1:n.822G>C, XR_007065410.1:n.822G>C, XR_007065413.1:n.822G>C, XR_007065411.1:n.822G>C, XR_007065402.1:n.822G>C, XR_007065412.1:n.822G>C, XR_001752585.1:n.822G>C, XR_007065401.1:n.822G>C, NP_000190.1:p.Val268Leu, NP_001339850.1:p.Val268Leu, NP_001339851.1:p.Val268Leu, XP_011523428.1:p.Val268Leu

Select item 147204655414.

rs1472046554 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:80213863 (GRCh38)
17:78187662 (GRCh37)
Canonical SPDI:: NC_000017.11:80213862:G:T
Gene:: SGSH (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_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_000017.11:g.80213863G>T, NC_000017.10:g.78187662G>T, NG_008229.1:g.11538C>A, NM_000199.5:c.686C>A, NM_000199.4:c.686C>A, NM_000199.3:c.686C>A, NM_001352921.3:c.686C>A, NM_001352921.2:c.686C>A, NM_001352921.1:c.686C>A, NM_001352922.2:c.686C>A, NM_001352922.1:c.686C>A, NR_148201.2:n.600C>A, NR_148201.1:n.667C>A, XR_934532.3:n.706C>A, XR_934532.2:n.706C>A, XR_934532.1:n.706C>A, XR_001752590.2:n.706C>A, XR_001752590.1:n.706C>A, XM_011525126.2:c.686C>A, XM_011525126.1:c.686C>A, XR_007065415.1:n.706C>A, XR_007065423.1:n.706C>A, XR_007065417.1:n.706C>A, XR_007065418.1:n.706C>A, XR_007065404.1:n.706C>A, XR_007065409.1:n.706C>A, XR_007065421.1:n.706C>A, XR_007065422.1:n.706C>A, XR_007065420.1:n.706C>A, XR_007065419.1:n.706C>A, XR_007065407.1:n.706C>A, XR_007065414.1:n.706C>A, XR_007065405.1:n.706C>A, XR_007065408.1:n.706C>A, XR_007065416.1:n.706C>A, XR_007065406.1:n.706C>A, XR_007065424.1:n.706C>A, XR_007065403.1:n.706C>A, XR_007065410.1:n.706C>A, XR_007065413.1:n.706C>A, XR_007065411.1:n.706C>A, XR_007065402.1:n.706C>A, XR_007065412.1:n.706C>A, XR_001752585.1:n.706C>A, XR_007065401.1:n.706C>A, NP_000190.1:p.Thr229Asn, NP_001339850.1:p.Thr229Asn, NP_001339851.1:p.Thr229Asn, XP_011523428.1:p.Thr229Asn

Select item 146764295715.

rs1467642957 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:80210484 (GRCh38)
17:78184283 (GRCh37)
Canonical SPDI:: NC_000017.11:80210483:G:A
Gene:: SGSH (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,3_prime_UTR_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.80210484G>A, NC_000017.10:g.78184283G>A, NG_032778.1:g.45493G>A, NG_008229.1:g.14917C>T, NM_000199.5:c.1477C>T, NM_000199.4:c.1477C>T, NM_000199.3:c.1477C>T, NM_001352921.3:c.*564C>T, NM_001352921.2:c.*564C>T, NM_001352921.1:c.*564C>T, NM_001352922.2:c.*527C>T, NM_001352922.1:c.*527C>T, NR_148201.2:n.1391C>T, NR_148201.1:n.1458C>T, XR_934532.3:n.1699C>T, XM_011525126.2:c.*697C>T, XR_007065402.1:n.1875C>T, XR_001752585.1:n.1497C>T, XR_007065401.1:n.1497C>T, NP_000190.1:p.Pro493Ser

Select item 146624591316.

rs1466245913 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 17:80210616 (GRCh38)
17:78184415 (GRCh37)
Canonical SPDI:: NC_000017.11:80210615:GGG:GG
Gene:: SGSH (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,intron_variant,frameshift_variant
Clinical significance:: pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.80210618del, NC_000017.10:g.78184417del, NG_032778.1:g.45627del, NG_008229.1:g.14785del, NM_000199.5:c.1345del, NM_000199.4:c.1345del, NM_000199.3:c.1345del, NM_001352921.3:c.*432del, NM_001352921.2:c.*432del, NM_001352921.1:c.*432del, NM_001352922.2:c.*395del, NM_001352922.1:c.*395del, NR_148201.2:n.1259del, NR_148201.1:n.1326del, XR_934532.3:n.1567del, XM_011525126.2:c.*565del, XR_007065402.1:n.1743del, XR_001752585.1:n.1365del, XR_007065401.1:n.1365del, NP_000190.1:p.Gln449fs

Select item 146619888417.

rs1466198884 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:80212079 (GRCh38)
17:78185878 (GRCh37)
Canonical SPDI:: NC_000017.11:80212078:C:T
Gene:: SGSH (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.80212079C>T, NC_000017.10:g.78185878C>T, NG_008229.1:g.13322G>A, NM_000199.5:c.941G>A, NM_000199.4:c.941G>A, NM_000199.3:c.941G>A, NM_001352921.3:c.941G>A, NM_001352921.2:c.941G>A, NM_001352921.1:c.941G>A, NM_001352922.2:c.941G>A, NM_001352922.1:c.941G>A, NR_148201.2:n.855G>A, NR_148201.1:n.922G>A, XR_934532.3:n.961G>A, XR_934532.2:n.961G>A, XR_934532.1:n.961G>A, XR_001752590.2:n.961G>A, XR_001752590.1:n.961G>A, XM_011525126.2:c.941G>A, XM_011525126.1:c.941G>A, XR_007065415.1:n.961G>A, XR_007065423.1:n.961G>A, XR_007065417.1:n.961G>A, XR_007065418.1:n.961G>A, XR_007065404.1:n.961G>A, XR_007065409.1:n.961G>A, XR_007065421.1:n.961G>A, XR_007065422.1:n.961G>A, XR_007065420.1:n.961G>A, XR_007065419.1:n.961G>A, XR_007065407.1:n.961G>A, XR_007065414.1:n.961G>A, XR_007065405.1:n.961G>A, XR_007065408.1:n.961G>A, XR_007065416.1:n.961G>A, XR_007065406.1:n.961G>A, XR_007065424.1:n.961G>A, XR_007065403.1:n.961G>A, XR_007065410.1:n.961G>A, XR_007065413.1:n.961G>A, XR_007065411.1:n.961G>A, XR_007065402.1:n.961G>A, XR_007065412.1:n.961G>A, XR_001752585.1:n.961G>A, XR_007065401.1:n.961G>A, NP_000190.1:p.Ser314Asn, NP_001339850.1:p.Ser314Asn, NP_001339851.1:p.Ser314Asn, XP_011523428.1:p.Ser314Asn

Select item 146478686618.

rs1464786866 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:80214230 (GRCh38)
17:78188029 (GRCh37)
Canonical SPDI:: NC_000017.11:80214229:C:T
Gene:: SGSH (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.80214230C>T, NC_000017.10:g.78188029C>T, NG_008229.1:g.11171G>A, NM_000199.5:c.605G>A, NM_000199.4:c.605G>A, NM_000199.3:c.605G>A, NM_001352921.3:c.605G>A, NM_001352921.2:c.605G>A, NM_001352921.1:c.605G>A, NM_001352922.2:c.605G>A, NM_001352922.1:c.605G>A, NR_148201.2:n.519G>A, NR_148201.1:n.586G>A, XR_934532.3:n.625G>A, XR_934532.2:n.625G>A, XR_934532.1:n.625G>A, XR_001752590.2:n.625G>A, XR_001752590.1:n.625G>A, XM_011525126.2:c.605G>A, XM_011525126.1:c.605G>A, XR_007065415.1:n.625G>A, XR_007065423.1:n.625G>A, XR_007065417.1:n.625G>A, XR_007065418.1:n.625G>A, XR_007065404.1:n.625G>A, XR_007065409.1:n.625G>A, XR_007065421.1:n.625G>A, XR_007065422.1:n.625G>A, XR_007065420.1:n.625G>A, XR_007065419.1:n.625G>A, XR_007065407.1:n.625G>A, XR_007065414.1:n.625G>A, XR_007065405.1:n.625G>A, XR_007065408.1:n.625G>A, XR_007065416.1:n.625G>A, XR_007065406.1:n.625G>A, XR_007065424.1:n.625G>A, XR_007065403.1:n.625G>A, XR_007065410.1:n.625G>A, XR_007065413.1:n.625G>A, XR_007065411.1:n.625G>A, XR_007065402.1:n.625G>A, XR_007065412.1:n.625G>A, XR_001752585.1:n.625G>A, XR_007065401.1:n.625G>A, NP_000190.1:p.Ser202Asn, NP_001339850.1:p.Ser202Asn, NP_001339851.1:p.Ser202Asn, XP_011523428.1:p.Ser202Asn

Select item 146188861519.

rs1461888615 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:80210741 (GRCh38)
17:78184540 (GRCh37)
Canonical SPDI:: NC_000017.11:80210740:G:A
Gene:: SGSH (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,3_prime_UTR_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.80210741G>A, NC_000017.10:g.78184540G>A, NG_032778.1:g.45750G>A, NG_008229.1:g.14660C>T, NM_000199.5:c.1220C>T, NM_000199.4:c.1220C>T, NM_000199.3:c.1220C>T, NM_001352921.3:c.*307C>T, NM_001352921.2:c.*307C>T, NM_001352921.1:c.*307C>T, NM_001352922.2:c.*270C>T, NM_001352922.1:c.*270C>T, NR_148201.2:n.1134C>T, NR_148201.1:n.1201C>T, XR_934532.3:n.1442C>T, XM_011525126.2:c.*440C>T, XR_007065402.1:n.1618C>T, XR_001752585.1:n.1240C>T, XR_007065401.1:n.1240C>T, NP_000190.1:p.Thr407Ile

Select item 146107618920.

rs1461076189 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:80210455 (GRCh38)
17:78184254 (GRCh37)
Canonical SPDI:: NC_000017.11:80210454:C:T
Gene:: SGSH (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,3_prime_UTR_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.80210455C>T, NC_000017.10:g.78184254C>T, NG_032778.1:g.45464C>T, NG_008229.1:g.14946G>A, NM_000199.5:c.1506G>A, NM_000199.4:c.1506G>A, NM_000199.3:c.1506G>A, NM_001352921.3:c.*593G>A, NM_001352921.2:c.*593G>A, NM_001352921.1:c.*593G>A, NM_001352922.2:c.*556G>A, NM_001352922.1:c.*556G>A, NR_148201.2:n.1420G>A, NR_148201.1:n.1487G>A, XR_934532.3:n.1728G>A, XM_011525126.2:c.*726G>A, XR_007065402.1:n.1904G>A, XR_001752585.1:n.1526G>A, XR_007065401.1:n.1526G>A

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