SNP Links for Protein (Select 123701900) - SNP

Links from Protein

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Select item 14906499281.

rs1490649928 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCT>- [Show Flanks]
Chromosome:: 5:1065316 (GRCh38)
5:1065431 (GRCh37)
Canonical SPDI:: NC_000005.10:1065311:TCCTCCT:TCCT
Gene:: SLC12A7 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: TCCT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.1065313CCT[1], NC_000005.9:g.1065428CCT[1], NT_187548.1:g.83452CCT[1], XM_005248231.4:c.2403GGA[1], XM_005248231.3:c.2403GGA[1], XM_005248231.2:c.2403GGA[1], XM_005248231.1:c.2403GGA[1], XM_011513939.4:c.2394GGA[1], XM_011513939.3:c.2394GGA[1], XM_011513939.2:c.2394GGA[1], XM_011513939.1:c.2394GGA[1], XM_011513940.3:c.2361GGA[1], XM_011513940.2:c.2361GGA[1], XM_011513940.1:c.2361GGA[1], XM_011513941.3:c.2472GGA[1], XM_011513941.2:c.2472GGA[1], XM_011513941.1:c.2199GGA[1], NM_006598.3:c.2403GGA[1], NM_006598.2:c.2403GGA[1], XM_017008958.2:c.2199GGA[1], XM_017008958.1:c.2199GGA[1], XM_047416640.1:c.2199GGA[1], XR_007058569.1:n.2475GGA[1], XR_007058570.1:n.2475GGA[1], XR_007058571.1:n.2475GGA[1], XP_005248288.1:p.Glu802del, XP_011512241.1:p.Glu799del, XP_011512242.1:p.Glu788del, XP_011512243.2:p.Glu825del, NP_006589.2:p.Glu802del, XP_016864447.1:p.Glu734del, XP_047272596.1:p.Glu734del

Select item 14877315342.

rs1487731534 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:1073640 (GRCh38)
5:1073755 (GRCh37)
Canonical SPDI:: NC_000005.10:1073639:G:A
Gene:: SLC12A7 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.1073640G>A, NC_000005.9:g.1073755G>A, NT_187548.1:g.91467G>A, XM_005248231.4:c.2234C>T, XM_005248231.3:c.2234C>T, XM_005248231.2:c.2234C>T, XM_005248231.1:c.2234C>T, XM_011513939.4:c.2225C>T, XM_011513939.3:c.2225C>T, XM_011513939.2:c.2225C>T, XM_011513939.1:c.2225C>T, XM_011513940.3:c.2192C>T, XM_011513940.2:c.2192C>T, XM_011513940.1:c.2192C>T, XM_011513941.3:c.2303C>T, XM_011513941.2:c.2303C>T, XM_011513941.1:c.2030C>T, NM_006598.3:c.2234C>T, NM_006598.2:c.2234C>T, XM_017008958.2:c.2030C>T, XM_017008958.1:c.2030C>T, XM_047416640.1:c.2030C>T, XR_007058569.1:n.2306C>T, XR_007058570.1:n.2306C>T, XR_007058571.1:n.2306C>T, XP_005248288.1:p.Ala745Val, XP_011512241.1:p.Ala742Val, XP_011512242.1:p.Ala731Val, XP_011512243.2:p.Ala768Val, NP_006589.2:p.Ala745Val, XP_016864447.1:p.Ala677Val, XP_047272596.1:p.Ala677Val

Select item 14876800713.

rs1487680071 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>-,CC [Show Flanks]
Chromosome:: 5:1064159 (GRCh38)
5:1064274 (GRCh37)
Canonical SPDI:: NC_000005.10:1064158:CCCCC:CCCC,NC_000005.10:1064158:CCCCC:CCCCCC
Gene:: SLC12A7 (Varview), MIR4635 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,frameshift_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.1064163del, NC_000005.10:g.1064163dup, NC_000005.9:g.1064278del, NC_000005.9:g.1064278dup, NT_187548.1:g.82280del, NT_187548.1:g.82280dup, XM_005248231.4:c.2531del, XM_005248231.4:c.2531dup, XM_005248231.3:c.2531del, XM_005248231.3:c.2531dup, XM_005248231.2:c.2531del, XM_005248231.2:c.2531dup, XM_005248231.1:c.2531del, XM_005248231.1:c.2531dup, XM_011513939.4:c.2522del, XM_011513939.4:c.2522dup, XM_011513939.3:c.2522del, XM_011513939.3:c.2522dup, XM_011513939.2:c.2522del, XM_011513939.2:c.2522dup, XM_011513939.1:c.2522del, XM_011513939.1:c.2522dup, XM_011513940.3:c.2489del, XM_011513940.3:c.2489dup, XM_011513940.2:c.2489del, XM_011513940.2:c.2489dup, XM_011513940.1:c.2489del, XM_011513940.1:c.2489dup, XM_011513941.3:c.2600del, XM_011513941.3:c.2600dup, XM_011513941.2:c.2600del, XM_011513941.2:c.2600dup, XM_011513941.1:c.2327del, XM_011513941.1:c.2327dup, NM_006598.3:c.2531del, NM_006598.3:c.2531dup, NM_006598.2:c.2531del, NM_006598.2:c.2531dup, XM_017008958.2:c.2327del, XM_017008958.2:c.2327dup, XM_017008958.1:c.2327del, XM_017008958.1:c.2327dup, XM_047416640.1:c.2327del, XM_047416640.1:c.2327dup, XR_007058569.1:n.2603del, XR_007058569.1:n.2603dup, XR_007058570.1:n.2603del, XR_007058570.1:n.2603dup, XR_007058571.1:n.2603del, XR_007058571.1:n.2603dup, XP_005248288.1:p.Gly844fs, XP_005248288.1:p.His845fs, XP_011512241.1:p.Gly841fs, XP_011512241.1:p.His842fs, XP_011512242.1:p.Gly830fs, XP_011512242.1:p.His831fs, XP_011512243.2:p.Gly867fs, XP_011512243.2:p.His868fs, NP_006589.2:p.Gly844fs, NP_006589.2:p.His845fs, XP_016864447.1:p.Gly776fs, XP_016864447.1:p.His777fs, XP_047272596.1:p.Gly776fs, XP_047272596.1:p.His777fs

Select item 14875824214.

rs1487582421 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 5:1081604 (GRCh38)
5:1081719 (GRCh37)
Canonical SPDI:: NC_000005.10:1081603:C:A,NC_000005.10:1081603:C:G
Gene:: SLC12A7 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.1081604C>A, NC_000005.10:g.1081604C>G, NC_000005.9:g.1081719C>A, NC_000005.9:g.1081719C>G, NT_187548.1:g.99319C>A, NT_187548.1:g.99319C>G, XM_005248231.4:c.1270G>T, XM_005248231.4:c.1270G>C, XM_005248231.3:c.1270G>T, XM_005248231.3:c.1270G>C, XM_005248231.2:c.1270G>T, XM_005248231.2:c.1270G>C, XM_005248231.1:c.1270G>T, XM_005248231.1:c.1270G>C, XM_011513939.4:c.1261G>T, XM_011513939.4:c.1261G>C, XM_011513939.3:c.1261G>T, XM_011513939.3:c.1261G>C, XM_011513939.2:c.1261G>T, XM_011513939.2:c.1261G>C, XM_011513939.1:c.1261G>T, XM_011513939.1:c.1261G>C, XM_011513940.3:c.1228G>T, XM_011513940.3:c.1228G>C, XM_011513940.2:c.1228G>T, XM_011513940.2:c.1228G>C, XM_011513940.1:c.1228G>T, XM_011513940.1:c.1228G>C, XM_011513941.3:c.1339G>T, XM_011513941.3:c.1339G>C, XM_011513941.2:c.1339G>T, XM_011513941.2:c.1339G>C, XM_011513941.1:c.1066G>T, XM_011513941.1:c.1066G>C, NM_006598.3:c.1270G>T, NM_006598.3:c.1270G>C, NM_006598.2:c.1270G>T, NM_006598.2:c.1270G>C, XM_017008958.2:c.1066G>T, XM_017008958.2:c.1066G>C, XM_017008958.1:c.1066G>T, XM_017008958.1:c.1066G>C, XM_047416640.1:c.1066G>T, XM_047416640.1:c.1066G>C, XR_007058569.1:n.1342G>T, XR_007058569.1:n.1342G>C, XR_007058570.1:n.1342G>T, XR_007058570.1:n.1342G>C, XR_007058571.1:n.1342G>T, XR_007058571.1:n.1342G>C, XP_005248288.1:p.Val424Phe, XP_005248288.1:p.Val424Leu, XP_011512241.1:p.Val421Phe, XP_011512241.1:p.Val421Leu, XP_011512242.1:p.Val410Phe, XP_011512242.1:p.Val410Leu, XP_011512243.2:p.Val447Phe, XP_011512243.2:p.Val447Leu, NP_006589.2:p.Val424Phe, NP_006589.2:p.Val424Leu, XP_016864447.1:p.Val356Phe, XP_016864447.1:p.Val356Leu, XP_047272596.1:p.Val356Phe, XP_047272596.1:p.Val356Leu

Select item 14866955465.

rs1486695546 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 5:1085319 (GRCh38)
5:1085434 (GRCh37)
Canonical SPDI:: NC_000005.10:1085318:G:A,NC_000005.10:1085318:G:T
Gene:: SLC12A7 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
A=0.000018/2 (ExAC)
HGVS:: NC_000005.10:g.1085319G>A, NC_000005.10:g.1085319G>T, NC_000005.9:g.1085434G>A, NC_000005.9:g.1085434G>T, NT_187548.1:g.103035G>A, NT_187548.1:g.103035G>T, XM_005248231.4:c.830C>T, XM_005248231.4:c.830C>A, XM_005248231.3:c.830C>T, XM_005248231.3:c.830C>A, XM_005248231.2:c.830C>T, XM_005248231.2:c.830C>A, XM_005248231.1:c.830C>T, XM_005248231.1:c.830C>A, XM_011513939.4:c.821C>T, XM_011513939.4:c.821C>A, XM_011513939.3:c.821C>T, XM_011513939.3:c.821C>A, XM_011513939.2:c.821C>T, XM_011513939.2:c.821C>A, XM_011513939.1:c.821C>T, XM_011513939.1:c.821C>A, XM_011513940.3:c.788C>T, XM_011513940.3:c.788C>A, XM_011513940.2:c.788C>T, XM_011513940.2:c.788C>A, XM_011513940.1:c.788C>T, XM_011513940.1:c.788C>A, XM_011513941.3:c.899C>T, XM_011513941.3:c.899C>A, XM_011513941.2:c.899C>T, XM_011513941.2:c.899C>A, XM_011513941.1:c.626C>T, XM_011513941.1:c.626C>A, NM_006598.3:c.830C>T, NM_006598.3:c.830C>A, NM_006598.2:c.830C>T, NM_006598.2:c.830C>A, XM_017008958.2:c.626C>T, XM_017008958.2:c.626C>A, XM_017008958.1:c.626C>T, XM_017008958.1:c.626C>A, XM_047416640.1:c.626C>T, XM_047416640.1:c.626C>A, XR_007058569.1:n.902C>T, XR_007058569.1:n.902C>A, XR_007058570.1:n.902C>T, XR_007058570.1:n.902C>A, XR_007058571.1:n.902C>T, XR_007058571.1:n.902C>A, XP_005248288.1:p.Ala277Val, XP_005248288.1:p.Ala277Glu, XP_011512241.1:p.Ala274Val, XP_011512241.1:p.Ala274Glu, XP_011512242.1:p.Ala263Val, XP_011512242.1:p.Ala263Glu, XP_011512243.2:p.Ala300Val, XP_011512243.2:p.Ala300Glu, NP_006589.2:p.Ala277Val, NP_006589.2:p.Ala277Glu, XP_016864447.1:p.Ala209Val, XP_016864447.1:p.Ala209Glu, XP_047272596.1:p.Ala209Val, XP_047272596.1:p.Ala209Glu

Select item 14862645856.

rs1486264585 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:1073706 (GRCh38)
5:1073821 (GRCh37)
Canonical SPDI:: NC_000005.10:1073705:C:A
Gene:: SLC12A7 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.1073706C>A, NC_000005.9:g.1073821C>A, NT_187548.1:g.91533C>A, XM_005248231.4:c.2168G>T, XM_005248231.3:c.2168G>T, XM_005248231.2:c.2168G>T, XM_005248231.1:c.2168G>T, XM_011513939.4:c.2159G>T, XM_011513939.3:c.2159G>T, XM_011513939.2:c.2159G>T, XM_011513939.1:c.2159G>T, XM_011513940.3:c.2126G>T, XM_011513940.2:c.2126G>T, XM_011513940.1:c.2126G>T, XM_011513941.3:c.2237G>T, XM_011513941.2:c.2237G>T, XM_011513941.1:c.1964G>T, NM_006598.3:c.2168G>T, NM_006598.2:c.2168G>T, XM_017008958.2:c.1964G>T, XM_017008958.1:c.1964G>T, XM_047416640.1:c.1964G>T, XR_007058569.1:n.2240G>T, XR_007058570.1:n.2240G>T, XR_007058571.1:n.2240G>T, XP_005248288.1:p.Gly723Val, XP_011512241.1:p.Gly720Val, XP_011512242.1:p.Gly709Val, XP_011512243.2:p.Gly746Val, NP_006589.2:p.Gly723Val, XP_016864447.1:p.Gly655Val, XP_047272596.1:p.Gly655Val

Select item 14861784347.

rs1486178434 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCCGCCGCCGTCGGCGT>- [Show Flanks]
Chromosome:: 5:1111937 (GRCh38)
5:1112052 (GRCh37)
Canonical SPDI:: NC_000005.10:1111933:CGTCCCCGCCGCCGTCGGCGT:CGT
Gene:: SLC12A7 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,coding_sequence_variant,inframe_deletion,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.1111937_1111954del, NC_000005.9:g.1112052_1112069del, NT_187548.1:g.129619_129636del, XM_005248231.4:c.41_58del, XM_005248231.3:c.41_58del, XM_005248231.2:c.41_58del, XM_005248231.1:c.41_58del, NM_006598.3:c.41_58del, NM_006598.2:c.41_58del, XR_007058569.1:n.113_130del, XR_007058570.1:n.113_130del, XR_007058571.1:n.113_130del, XP_005248288.1:p.Ala14_Asp19del, NP_006589.2:p.Ala14_Asp19del

Select item 14855161958.

rs1485516195 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:1076227 (GRCh38)
5:1076342 (GRCh37)
Canonical SPDI:: NC_000005.10:1076226:G:A
Gene:: SLC12A7 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.1076227G>A, NC_000005.9:g.1076342G>A, NT_187548.1:g.94054G>A, XM_005248231.4:c.1758C>T, XM_005248231.3:c.1758C>T, XM_005248231.2:c.1758C>T, XM_005248231.1:c.1758C>T, XM_011513939.4:c.1749C>T, XM_011513939.3:c.1749C>T, XM_011513939.2:c.1749C>T, XM_011513939.1:c.1749C>T, XM_011513940.3:c.1716C>T, XM_011513940.2:c.1716C>T, XM_011513940.1:c.1716C>T, XM_011513941.3:c.1827C>T, XM_011513941.2:c.1827C>T, XM_011513941.1:c.1554C>T, NM_006598.3:c.1758C>T, NM_006598.2:c.1758C>T, XM_017008958.2:c.1554C>T, XM_017008958.1:c.1554C>T, XM_047416640.1:c.1554C>T, XR_007058569.1:n.1830C>T, XR_007058570.1:n.1830C>T, XR_007058571.1:n.1830C>T

Select item 14841442439.

rs1484144243 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 5:1065467 (GRCh38)
5:1065582 (GRCh37)
Canonical SPDI:: NC_000005.10:1065466:G:A,NC_000005.10:1065466:G:T
Gene:: SLC12A7 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.1065467G>A, NC_000005.10:g.1065467G>T, NC_000005.9:g.1065582G>A, NC_000005.9:g.1065582G>T, NT_187548.1:g.83606G>A, NT_187548.1:g.83606G>T, XM_005248231.4:c.2253C>T, XM_005248231.4:c.2253C>A, XM_005248231.3:c.2253C>T, XM_005248231.3:c.2253C>A, XM_005248231.2:c.2253C>T, XM_005248231.2:c.2253C>A, XM_005248231.1:c.2253C>T, XM_005248231.1:c.2253C>A, XM_011513939.4:c.2244C>T, XM_011513939.4:c.2244C>A, XM_011513939.3:c.2244C>T, XM_011513939.3:c.2244C>A, XM_011513939.2:c.2244C>T, XM_011513939.2:c.2244C>A, XM_011513939.1:c.2244C>T, XM_011513939.1:c.2244C>A, XM_011513940.3:c.2211C>T, XM_011513940.3:c.2211C>A, XM_011513940.2:c.2211C>T, XM_011513940.2:c.2211C>A, XM_011513940.1:c.2211C>T, XM_011513940.1:c.2211C>A, XM_011513941.3:c.2322C>T, XM_011513941.3:c.2322C>A, XM_011513941.2:c.2322C>T, XM_011513941.2:c.2322C>A, XM_011513941.1:c.2049C>T, XM_011513941.1:c.2049C>A, NM_006598.3:c.2253C>T, NM_006598.3:c.2253C>A, NM_006598.2:c.2253C>T, NM_006598.2:c.2253C>A, XM_017008958.2:c.2049C>T, XM_017008958.2:c.2049C>A, XM_017008958.1:c.2049C>T, XM_017008958.1:c.2049C>A, XM_047416640.1:c.2049C>T, XM_047416640.1:c.2049C>A, XR_007058569.1:n.2325C>T, XR_007058569.1:n.2325C>A, XR_007058570.1:n.2325C>T, XR_007058570.1:n.2325C>A, XR_007058571.1:n.2325C>T, XR_007058571.1:n.2325C>A

Select item 148246866510.

rs1482468665 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:1089034 (GRCh38)
5:1089149 (GRCh37)
Canonical SPDI:: NC_000005.10:1089033:C:T
Gene:: SLC12A7 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000008/2 (GnomAD_exomes)
T=0.000029/4 (GnomAD)
HGVS:: NC_000005.10:g.1089034C>T, NC_000005.9:g.1089149C>T, NT_187548.1:g.106716C>T, XM_005248231.4:c.437G>A, XM_005248231.3:c.437G>A, XM_005248231.2:c.437G>A, XM_005248231.1:c.437G>A, XM_011513939.4:c.428G>A, XM_011513939.3:c.428G>A, XM_011513939.2:c.428G>A, XM_011513939.1:c.428G>A, XM_011513940.3:c.395G>A, XM_011513940.2:c.395G>A, XM_011513940.1:c.395G>A, XM_011513941.3:c.506G>A, XM_011513941.2:c.506G>A, XM_011513941.1:c.233G>A, NM_006598.3:c.437G>A, NM_006598.2:c.437G>A, XM_017008958.2:c.233G>A, XM_017008958.1:c.233G>A, XM_047416640.1:c.233G>A, XR_007058569.1:n.509G>A, XR_007058570.1:n.509G>A, XR_007058571.1:n.509G>A, XP_005248288.1:p.Gly146Glu, XP_011512241.1:p.Gly143Glu, XP_011512242.1:p.Gly132Glu, XP_011512243.2:p.Gly169Glu, NP_006589.2:p.Gly146Glu, XP_016864447.1:p.Gly78Glu, XP_047272596.1:p.Gly78Glu

Select item 148172698011.

rs1481726980 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:1083902 (GRCh38)
5:1084017 (GRCh37)
Canonical SPDI:: NC_000005.10:1083901:G:C
Gene:: SLC12A7 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000049/2 (ALFA)
C=0.000012/3 (GnomAD_exomes)
C=0.000014/2 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000005.10:g.1083902G>C, NC_000005.9:g.1084017G>C, NT_187548.1:g.101618G>C, XM_005248231.4:c.972C>G, XM_005248231.3:c.972C>G, XM_005248231.2:c.972C>G, XM_005248231.1:c.972C>G, XM_011513939.4:c.963C>G, XM_011513939.3:c.963C>G, XM_011513939.2:c.963C>G, XM_011513939.1:c.963C>G, XM_011513940.3:c.930C>G, XM_011513940.2:c.930C>G, XM_011513940.1:c.930C>G, XM_011513941.3:c.1041C>G, XM_011513941.2:c.1041C>G, XM_011513941.1:c.768C>G, NM_006598.3:c.972C>G, NM_006598.2:c.972C>G, XM_017008958.2:c.768C>G, XM_017008958.1:c.768C>G, XM_047416640.1:c.768C>G, XR_007058569.1:n.1044C>G, XR_007058570.1:n.1044C>G, XR_007058571.1:n.1044C>G

Select item 147804215712.

rs1478042157 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:1076773 (GRCh38)
5:1076888 (GRCh37)
Canonical SPDI:: NC_000005.10:1076772:C:T
Gene:: SLC12A7 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.1076773C>T, NC_000005.9:g.1076888C>T, NT_187548.1:g.94600C>T, XM_005248231.4:c.1669G>A, XM_005248231.3:c.1669G>A, XM_005248231.2:c.1669G>A, XM_005248231.1:c.1669G>A, XM_011513939.4:c.1660G>A, XM_011513939.3:c.1660G>A, XM_011513939.2:c.1660G>A, XM_011513939.1:c.1660G>A, XM_011513940.3:c.1627G>A, XM_011513940.2:c.1627G>A, XM_011513940.1:c.1627G>A, XM_011513941.3:c.1738G>A, XM_011513941.2:c.1738G>A, XM_011513941.1:c.1465G>A, NM_006598.3:c.1669G>A, NM_006598.2:c.1669G>A, XM_017008958.2:c.1465G>A, XM_017008958.1:c.1465G>A, XM_047416640.1:c.1465G>A, XR_007058569.1:n.1741G>A, XR_007058570.1:n.1741G>A, XR_007058571.1:n.1741G>A, XP_005248288.1:p.Ala557Thr, XP_011512241.1:p.Ala554Thr, XP_011512242.1:p.Ala543Thr, XP_011512243.2:p.Ala580Thr, NP_006589.2:p.Ala557Thr, XP_016864447.1:p.Ala489Thr, XP_047272596.1:p.Ala489Thr

Select item 147802557113.

rs1478025571 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:1057495 (GRCh38)
5:1057610 (GRCh37)
Canonical SPDI:: NC_000005.10:1057494:A:C
Gene:: SLC12A7 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.1057495A>C, NC_000005.9:g.1057610A>C, NT_187548.1:g.76004A>C, XM_005248231.4:c.3002T>G, XM_005248231.3:c.3002T>G, XM_005248231.2:c.3002T>G, XM_005248231.1:c.3002T>G, XM_011513939.4:c.2993T>G, XM_011513939.3:c.2993T>G, XM_011513939.2:c.2993T>G, XM_011513939.1:c.2993T>G, XM_011513940.3:c.2960T>G, XM_011513940.2:c.2960T>G, XM_011513940.1:c.2960T>G, XM_011513941.3:c.3071T>G, XM_011513941.2:c.3071T>G, XM_011513941.1:c.2798T>G, NM_006598.3:c.3002T>G, NM_006598.2:c.3002T>G, XM_017008958.2:c.2798T>G, XM_017008958.1:c.2798T>G, XM_047416640.1:c.2798T>G, XP_005248288.1:p.Phe1001Cys, XP_011512241.1:p.Phe998Cys, XP_011512242.1:p.Phe987Cys, XP_011512243.2:p.Phe1024Cys, NP_006589.2:p.Phe1001Cys, XP_016864447.1:p.Phe933Cys, XP_047272596.1:p.Phe933Cys

Select item 147744332214.

rs1477443322 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:1078708 (GRCh38)
5:1078823 (GRCh37)
Canonical SPDI:: NC_000005.10:1078707:G:A
Gene:: SLC12A7 (Varview)
Functional Consequence:: non_coding_transcript_variant,stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.1078708G>A, NC_000005.9:g.1078823G>A, NT_187548.1:g.96537G>A, XM_005248231.4:c.1447C>T, XM_005248231.3:c.1447C>T, XM_005248231.2:c.1447C>T, XM_005248231.1:c.1447C>T, XM_011513939.4:c.1438C>T, XM_011513939.3:c.1438C>T, XM_011513939.2:c.1438C>T, XM_011513939.1:c.1438C>T, XM_011513940.3:c.1405C>T, XM_011513940.2:c.1405C>T, XM_011513940.1:c.1405C>T, XM_011513941.3:c.1516C>T, XM_011513941.2:c.1516C>T, XM_011513941.1:c.1243C>T, NM_006598.3:c.1447C>T, NM_006598.2:c.1447C>T, XM_017008958.2:c.1243C>T, XM_017008958.1:c.1243C>T, XM_047416640.1:c.1243C>T, XR_007058569.1:n.1519C>T, XR_007058570.1:n.1519C>T, XR_007058571.1:n.1519C>T, XP_005248288.1:p.Arg483Ter, XP_011512241.1:p.Arg480Ter, XP_011512242.1:p.Arg469Ter, XP_011512243.2:p.Arg506Ter, NP_006589.2:p.Arg483Ter, XP_016864447.1:p.Arg415Ter, XP_047272596.1:p.Arg415Ter

Select item 147607594715.

rs1476075947 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:1075391 (GRCh38)
5:1075506 (GRCh37)
Canonical SPDI:: NC_000005.10:1075390:G:A
Gene:: SLC12A7 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.1075391G>A, NC_000005.9:g.1075506G>A, NT_187548.1:g.93218G>A, XM_005248231.4:c.1947C>T, XM_005248231.3:c.1947C>T, XM_005248231.2:c.1947C>T, XM_005248231.1:c.1947C>T, XM_011513939.4:c.1938C>T, XM_011513939.3:c.1938C>T, XM_011513939.2:c.1938C>T, XM_011513939.1:c.1938C>T, XM_011513940.3:c.1905C>T, XM_011513940.2:c.1905C>T, XM_011513940.1:c.1905C>T, XM_011513941.3:c.2016C>T, XM_011513941.2:c.2016C>T, XM_011513941.1:c.1743C>T, NM_006598.3:c.1947C>T, NM_006598.2:c.1947C>T, XM_017008958.2:c.1743C>T, XM_017008958.1:c.1743C>T, XM_047416640.1:c.1743C>T, XR_007058569.1:n.2019C>T, XR_007058570.1:n.2019C>T, XR_007058571.1:n.2019C>T

Select item 147344492716.

rs1473444927 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 5:1076170 (GRCh38)
5:1076285 (GRCh37)
Canonical SPDI:: NC_000005.10:1076169:GGGGG:GGGG
Gene:: SLC12A7 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: GGGG=0.0001/1 (ALFA)
HGVS:: NC_000005.10:g.1076174del, NC_000005.9:g.1076289del, NT_187548.1:g.94001del, XM_005248231.4:c.1815del, XM_005248231.3:c.1815del, XM_005248231.2:c.1815del, XM_005248231.1:c.1815del, XM_011513939.4:c.1806del, XM_011513939.3:c.1806del, XM_011513939.2:c.1806del, XM_011513939.1:c.1806del, XM_011513940.3:c.1773del, XM_011513940.2:c.1773del, XM_011513940.1:c.1773del, XM_011513941.3:c.1884del, XM_011513941.2:c.1884del, XM_011513941.1:c.1611del, NM_006598.3:c.1815del, NM_006598.2:c.1815del, XM_017008958.2:c.1611del, XM_017008958.1:c.1611del, XM_047416640.1:c.1611del, XR_007058569.1:n.1887del, XR_007058570.1:n.1887del, XR_007058571.1:n.1887del, XP_005248288.1:p.Asn606fs, XP_011512241.1:p.Asn603fs, XP_011512242.1:p.Asn592fs, XP_011512243.2:p.Asn629fs, NP_006589.2:p.Asn606fs, XP_016864447.1:p.Asn538fs, XP_047272596.1:p.Asn538fs

Select item 147263562117.

rs1472635621 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:1074568 (GRCh38)
5:1074683 (GRCh37)
Canonical SPDI:: NC_000005.10:1074567:T:G
Gene:: SLC12A7 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.1074568T>G, NC_000005.9:g.1074683T>G, NT_187548.1:g.92395T>G, XM_005248231.4:c.2071A>C, XM_005248231.3:c.2071A>C, XM_005248231.2:c.2071A>C, XM_005248231.1:c.2071A>C, XM_011513939.4:c.2062A>C, XM_011513939.3:c.2062A>C, XM_011513939.2:c.2062A>C, XM_011513939.1:c.2062A>C, XM_011513940.3:c.2029A>C, XM_011513940.2:c.2029A>C, XM_011513940.1:c.2029A>C, XM_011513941.3:c.2140A>C, XM_011513941.2:c.2140A>C, XM_011513941.1:c.1867A>C, NM_006598.3:c.2071A>C, NM_006598.2:c.2071A>C, XM_017008958.2:c.1867A>C, XM_017008958.1:c.1867A>C, XM_047416640.1:c.1867A>C, XR_007058569.1:n.2143A>C, XR_007058570.1:n.2143A>C, XR_007058571.1:n.2143A>C

Select item 147116960018.

rs1471169600 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:1074625 (GRCh38)
5:1074740 (GRCh37)
Canonical SPDI:: NC_000005.10:1074624:C:T
Gene:: SLC12A7 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.1074625C>T, NC_000005.9:g.1074740C>T, NT_187548.1:g.92452C>T, XM_005248231.4:c.2014G>A, XM_005248231.3:c.2014G>A, XM_005248231.2:c.2014G>A, XM_005248231.1:c.2014G>A, XM_011513939.4:c.2005G>A, XM_011513939.3:c.2005G>A, XM_011513939.2:c.2005G>A, XM_011513939.1:c.2005G>A, XM_011513940.3:c.1972G>A, XM_011513940.2:c.1972G>A, XM_011513940.1:c.1972G>A, XM_011513941.3:c.2083G>A, XM_011513941.2:c.2083G>A, XM_011513941.1:c.1810G>A, NM_006598.3:c.2014G>A, NM_006598.2:c.2014G>A, XM_017008958.2:c.1810G>A, XM_017008958.1:c.1810G>A, XM_047416640.1:c.1810G>A, XR_007058569.1:n.2086G>A, XR_007058570.1:n.2086G>A, XR_007058571.1:n.2086G>A, XP_005248288.1:p.Ala672Thr, XP_011512241.1:p.Ala669Thr, XP_011512242.1:p.Ala658Thr, XP_011512243.2:p.Ala695Thr, NP_006589.2:p.Ala672Thr, XP_016864447.1:p.Ala604Thr, XP_047272596.1:p.Ala604Thr

Select item 146875312819.

rs1468753128 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 5:1076225 (GRCh38)
5:1076340 (GRCh37)
Canonical SPDI:: NC_000005.10:1076224:AT:
Gene:: SLC12A7 (Varview)
Functional Consequence:: frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.1076225_1076226del, NC_000005.9:g.1076340_1076341del, NT_187548.1:g.94052_94053del, XM_005248231.4:c.1759_1760del, XM_005248231.3:c.1759_1760del, XM_005248231.2:c.1759_1760del, XM_005248231.1:c.1759_1760del, XM_011513939.4:c.1750_1751del, XM_011513939.3:c.1750_1751del, XM_011513939.2:c.1750_1751del, XM_011513939.1:c.1750_1751del, XM_011513940.3:c.1717_1718del, XM_011513940.2:c.1717_1718del, XM_011513940.1:c.1717_1718del, XM_011513941.3:c.1828_1829del, XM_011513941.2:c.1828_1829del, XM_011513941.1:c.1555_1556del, NM_006598.3:c.1759_1760del, NM_006598.2:c.1759_1760del, XM_017008958.2:c.1555_1556del, XM_017008958.1:c.1555_1556del, XM_047416640.1:c.1555_1556del, XR_007058569.1:n.1831_1832del, XR_007058570.1:n.1831_1832del, XR_007058571.1:n.1831_1832del, XP_005248288.1:p.Met587fs, XP_011512241.1:p.Met584fs, XP_011512242.1:p.Met573fs, XP_011512243.2:p.Met610fs, NP_006589.2:p.Met587fs, XP_016864447.1:p.Met519fs, XP_047272596.1:p.Met519fs

Select item 146806509320.

rs1468065093 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:1079478 (GRCh38)
5:1079593 (GRCh37)
Canonical SPDI:: NC_000005.10:1079477:T:A
Gene:: SLC12A7 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.1079478T>A, NC_000005.9:g.1079593T>A, NT_187548.1:g.97307T>A, XM_005248231.4:c.1316A>T, XM_005248231.3:c.1316A>T, XM_005248231.2:c.1316A>T, XM_005248231.1:c.1316A>T, XM_011513939.4:c.1307A>T, XM_011513939.3:c.1307A>T, XM_011513939.2:c.1307A>T, XM_011513939.1:c.1307A>T, XM_011513940.3:c.1274A>T, XM_011513940.2:c.1274A>T, XM_011513940.1:c.1274A>T, XM_011513941.3:c.1385A>T, XM_011513941.2:c.1385A>T, XM_011513941.1:c.1112A>T, NM_006598.3:c.1316A>T, NM_006598.2:c.1316A>T, XM_017008958.2:c.1112A>T, XM_017008958.1:c.1112A>T, XM_047416640.1:c.1112A>T, XR_007058569.1:n.1388A>T, XR_007058570.1:n.1388A>T, XR_007058571.1:n.1388A>T, XP_005248288.1:p.Asn439Ile, XP_011512241.1:p.Asn436Ile, XP_011512242.1:p.Asn425Ile, XP_011512243.2:p.Asn462Ile, NP_006589.2:p.Asn439Ile, XP_016864447.1:p.Asn371Ile, XP_047272596.1:p.Asn371Ile

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