SNP Links for Protein (Select 110224452) - SNP

Links from Protein

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Select item 14906243101.

rs1490624310 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:34237481 (GRCh38)
15:34529682 (GRCh37)
Canonical SPDI:: NC_000015.10:34237480:T:C
Gene:: SLC12A6 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.34237481T>C, NC_000015.9:g.34529682T>C, NG_007951.1:g.105584A>G, NM_001042496.2:c.2845A>G, NM_001042496.1:c.2845A>G, NM_001042494.2:c.2695A>G, NM_001042494.1:c.2695A>G, NM_133647.2:c.2872A>G, NM_133647.1:c.2872A>G, NM_001042497.2:c.2827A>G, NM_001042497.1:c.2827A>G, NM_001042495.2:c.2695A>G, NM_001042495.1:c.2695A>G, NM_005135.2:c.2719A>G, NM_001365088.1:c.2872A>G, XM_006720793.5:c.2725A>G, XM_006720793.4:c.2725A>G, XM_006720793.3:c.2725A>G, XM_006720793.2:c.2725A>G, XM_006720793.1:c.2725A>G, XR_931960.4:n.3208A>G, XR_931960.3:n.4122A>G, XR_931960.2:n.3918A>G, XR_931960.1:n.2878A>G, XM_047433396.1:c.2572A>G, NP_001035961.1:p.Lys949Glu, NP_001035959.1:p.Lys899Glu, NP_598408.1:p.Lys958Glu, NP_001035962.1:p.Lys943Glu, NP_001035960.1:p.Lys899Glu, NP_005126.1:p.Lys907Glu, NP_001352017.1:p.Lys958Glu, XP_006720856.1:p.Lys909Glu, XP_047289352.1:p.Lys858Glu

Select item 14900852272.

rs1490085227 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 15:34242204 (GRCh38)
15:34534405 (GRCh37)
Canonical SPDI:: NC_000015.10:34242203:C:G
Gene:: SLC12A6 (Varview), LOC124903461 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.34242204C>G, NC_000015.9:g.34534405C>G, NG_007951.1:g.100861G>C, NM_001042496.2:c.2033G>C, NM_001042496.1:c.2033G>C, NM_001042494.2:c.1883G>C, NM_001042494.1:c.1883G>C, NM_133647.2:c.2060G>C, NM_133647.1:c.2060G>C, NM_001042497.2:c.2015G>C, NM_001042497.1:c.2015G>C, NM_001042495.2:c.1883G>C, NM_001042495.1:c.1883G>C, NM_005135.2:c.1907G>C, NM_001365088.1:c.2060G>C, XM_006720793.5:c.1913G>C, XM_006720793.4:c.1913G>C, XM_006720793.3:c.1913G>C, XM_006720793.2:c.1913G>C, XM_006720793.1:c.1913G>C, XR_931960.4:n.2396G>C, XR_931960.3:n.3310G>C, XR_931960.2:n.3106G>C, XR_931960.1:n.2066G>C, XM_047433396.1:c.1760G>C, NP_001035961.1:p.Gly678Ala, NP_001035959.1:p.Gly628Ala, NP_598408.1:p.Gly687Ala, NP_001035962.1:p.Gly672Ala, NP_001035960.1:p.Gly628Ala, NP_005126.1:p.Gly636Ala, NP_001352017.1:p.Gly687Ala, XP_006720856.1:p.Gly638Ala, XP_047289352.1:p.Gly587Ala

Select item 14889750043.

rs1488975004 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 15:34236185 (GRCh38)
15:34528386 (GRCh37)
Canonical SPDI:: NC_000015.10:34236184:T:A
Gene:: SLC12A6 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.34236185T>A, NC_000015.9:g.34528386T>A, NG_007951.1:g.106880A>T, NM_001042496.2:c.3030A>T, NM_001042496.1:c.3030A>T, NM_001042494.2:c.2880A>T, NM_001042494.1:c.2880A>T, NM_133647.2:c.3057A>T, NM_133647.1:c.3057A>T, NM_001042497.2:c.3012A>T, NM_001042497.1:c.3012A>T, NM_001042495.2:c.2880A>T, NM_001042495.1:c.2880A>T, NM_005135.2:c.2904A>T, NM_001365088.1:c.3057A>T, XM_006720793.5:c.2910A>T, XM_006720793.4:c.2910A>T, XM_006720793.3:c.2910A>T, XM_006720793.2:c.2910A>T, XM_006720793.1:c.2910A>T, XR_931960.4:n.3422A>T, XR_931960.3:n.4336A>T, XR_931960.2:n.4132A>T, XR_931960.1:n.3092A>T, XM_047433396.1:c.2757A>T, NP_001035961.1:p.Lys1010Asn, NP_001035959.1:p.Lys960Asn, NP_598408.1:p.Lys1019Asn, NP_001035962.1:p.Lys1004Asn, NP_001035960.1:p.Lys960Asn, NP_005126.1:p.Lys968Asn, NP_001352017.1:p.Lys1019Asn, XP_006720856.1:p.Lys970Asn, XP_047289352.1:p.Lys919Asn

Select item 14863663354.

rs1486366335 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:34254577 (GRCh38)
15:34546778 (GRCh37)
Canonical SPDI:: NC_000015.10:34254576:G:A
Gene:: SLC12A6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.34254577G>A, NC_000015.9:g.34546778G>A, NG_007951.1:g.88488C>T, NM_001042496.2:c.862C>T, NM_001042496.1:c.862C>T, NM_001042494.2:c.712C>T, NM_001042494.1:c.712C>T, NM_133647.2:c.889C>T, NM_133647.1:c.889C>T, NM_001042497.2:c.844C>T, NM_001042497.1:c.844C>T, NM_001042495.2:c.712C>T, NM_001042495.1:c.712C>T, NM_005135.2:c.736C>T, NM_001365088.1:c.889C>T, XM_006720793.5:c.742C>T, XM_006720793.4:c.742C>T, XM_006720793.3:c.742C>T, XM_006720793.2:c.742C>T, XM_006720793.1:c.742C>T, XR_931960.4:n.1225C>T, XR_931960.3:n.2139C>T, XR_931960.2:n.1935C>T, XR_931960.1:n.895C>T, XM_011522269.4:c.889C>T, XM_011522269.3:c.889C>T, XM_011522269.2:c.889C>T, XM_011522269.1:c.889C>T, XM_047433396.1:c.589C>T, NP_001035961.1:p.Pro288Ser, NP_001035959.1:p.Pro238Ser, NP_598408.1:p.Pro297Ser, NP_001035962.1:p.Pro282Ser, NP_001035960.1:p.Pro238Ser, NP_005126.1:p.Pro246Ser, NP_001352017.1:p.Pro297Ser, XP_006720856.1:p.Pro248Ser, XP_011520571.1:p.Pro297Ser, XP_047289352.1:p.Pro197Ser

Select item 14863042715.

rs1486304271 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:34258892 (GRCh38)
15:34551093 (GRCh37)
Canonical SPDI:: NC_000015.10:34258891:T:C
Gene:: SLC12A6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.34258892T>C, NC_000015.9:g.34551093T>C, NG_007951.1:g.84173A>G, NM_001042496.2:c.437A>G, NM_001042496.1:c.437A>G, NM_001042494.2:c.287A>G, NM_001042494.1:c.287A>G, NM_133647.2:c.464A>G, NM_133647.1:c.464A>G, NM_001042497.2:c.419A>G, NM_001042497.1:c.419A>G, NM_001042495.2:c.287A>G, NM_001042495.1:c.287A>G, NM_005135.2:c.311A>G, NM_001365088.1:c.464A>G, XM_006720793.5:c.464A>G, XM_006720793.4:c.464A>G, XM_006720793.3:c.464A>G, XM_006720793.2:c.464A>G, XM_006720793.1:c.464A>G, XR_931960.4:n.800A>G, XR_931960.3:n.1714A>G, XR_931960.2:n.1510A>G, XR_931960.1:n.470A>G, XM_011522269.4:c.464A>G, XM_011522269.3:c.464A>G, XM_011522269.2:c.464A>G, XM_011522269.1:c.464A>G, XM_047433396.1:c.311A>G, NP_001035961.1:p.Asn146Ser, NP_001035959.1:p.Asn96Ser, NP_598408.1:p.Asn155Ser, NP_001035962.1:p.Asn140Ser, NP_001035960.1:p.Asn96Ser, NP_005126.1:p.Asn104Ser, NP_001352017.1:p.Asn155Ser, XP_006720856.1:p.Asn155Ser, XP_011520571.1:p.Asn155Ser, XP_047289352.1:p.Asn104Ser

Select item 14862983936.

rs1486298393 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 15:34256254 (GRCh38)
15:34548455 (GRCh37)
Canonical SPDI:: NC_000015.10:34256253:G:C
Gene:: SLC12A6 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.34256254G>C, NC_000015.9:g.34548455G>C, NG_007951.1:g.86811C>G, NM_001042496.2:c.693C>G, NM_001042496.1:c.693C>G, NM_001042494.2:c.543C>G, NM_001042494.1:c.543C>G, NM_133647.2:c.720C>G, NM_133647.1:c.720C>G, NM_001042497.2:c.675C>G, NM_001042497.1:c.675C>G, NM_001042495.2:c.543C>G, NM_001042495.1:c.543C>G, NM_005135.2:c.567C>G, NM_001365088.1:c.720C>G, XM_006720793.5:c.573C>G, XM_006720793.4:c.573C>G, XM_006720793.3:c.573C>G, XM_006720793.2:c.573C>G, XM_006720793.1:c.573C>G, XR_931960.4:n.1056C>G, XR_931960.3:n.1970C>G, XR_931960.2:n.1766C>G, XR_931960.1:n.726C>G, XM_011522269.4:c.720C>G, XM_011522269.3:c.720C>G, XM_011522269.2:c.720C>G, XM_011522269.1:c.720C>G, XM_047433396.1:c.420C>G

Select item 14852862907.

rs1485286290 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:34336486 (GRCh38)
15:34628687 (GRCh37)
Canonical SPDI:: NC_000015.10:34336485:C:T
Gene:: SLC12A6 (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.34336486C>T, NC_000015.9:g.34628687C>T, NG_007951.1:g.6579G>A, NM_001042496.2:c.168G>A, NM_001042496.1:c.168G>A, NM_001042494.2:c.18G>A, NM_001042494.1:c.18G>A, NM_133647.2:c.195G>A, NM_133647.1:c.195G>A, NM_001042497.2:c.195G>A, NM_001042497.1:c.195G>A, NM_001042495.2:c.18G>A, NM_001042495.1:c.18G>A, NM_001365088.1:c.195G>A, NW_025791798.1:g.75227C>T, XM_006720793.5:c.195G>A, XM_006720793.4:c.195G>A, XM_006720793.3:c.195G>A, XM_006720793.2:c.195G>A, XM_006720793.1:c.195G>A, XR_931960.4:n.531G>A, XR_931960.3:n.1445G>A, XR_931960.2:n.1241G>A, XR_931960.1:n.201G>A, XM_011522269.4:c.195G>A, XM_011522269.3:c.195G>A, XM_011522269.2:c.195G>A, XM_011522269.1:c.195G>A

Select item 14847742908.

rs1484774290 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:34244063 (GRCh38)
15:34536264 (GRCh37)
Canonical SPDI:: NC_000015.10:34244062:G:A
Gene:: SLC12A6 (Varview), LOC124903461 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.34244063G>A, NC_000015.9:g.34536264G>A, NG_007951.1:g.99002C>T, NM_001042496.2:c.1926C>T, NM_001042496.1:c.1926C>T, NM_001042494.2:c.1776C>T, NM_001042494.1:c.1776C>T, NM_133647.2:c.1953C>T, NM_133647.1:c.1953C>T, NM_001042497.2:c.1908C>T, NM_001042497.1:c.1908C>T, NM_001042495.2:c.1776C>T, NM_001042495.1:c.1776C>T, NM_005135.2:c.1800C>T, NM_001365088.1:c.1953C>T, XM_006720793.5:c.1806C>T, XM_006720793.4:c.1806C>T, XM_006720793.3:c.1806C>T, XM_006720793.2:c.1806C>T, XM_006720793.1:c.1806C>T, XR_931960.4:n.2289C>T, XR_931960.3:n.3203C>T, XR_931960.2:n.2999C>T, XR_931960.1:n.1959C>T, XM_011522269.4:c.1953C>T, XM_011522269.3:c.1953C>T, XM_011522269.2:c.1953C>T, XM_011522269.1:c.1953C>T, XM_047433396.1:c.1653C>T

Select item 14832413239.

rs1483241323 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:34239061 (GRCh38)
15:34531262 (GRCh37)
Canonical SPDI:: NC_000015.10:34239060:A:G
Gene:: SLC12A6 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.34239061A>G, NC_000015.9:g.34531262A>G, NG_007951.1:g.104004T>C, NM_001042496.2:c.2509T>C, NM_001042496.1:c.2509T>C, NM_001042494.2:c.2359T>C, NM_001042494.1:c.2359T>C, NM_133647.2:c.2536T>C, NM_133647.1:c.2536T>C, NM_001042497.2:c.2491T>C, NM_001042497.1:c.2491T>C, NM_001042495.2:c.2359T>C, NM_001042495.1:c.2359T>C, NM_005135.2:c.2383T>C, NM_001365088.1:c.2536T>C, XM_006720793.5:c.2389T>C, XM_006720793.4:c.2389T>C, XM_006720793.3:c.2389T>C, XM_006720793.2:c.2389T>C, XM_006720793.1:c.2389T>C, XR_931960.4:n.2872T>C, XR_931960.3:n.3786T>C, XR_931960.2:n.3582T>C, XR_931960.1:n.2542T>C, XM_047433396.1:c.2236T>C, NP_001035961.1:p.Cys837Arg, NP_001035959.1:p.Cys787Arg, NP_598408.1:p.Cys846Arg, NP_001035962.1:p.Cys831Arg, NP_001035960.1:p.Cys787Arg, NP_005126.1:p.Cys795Arg, NP_001352017.1:p.Cys846Arg, XP_006720856.1:p.Cys797Arg, XP_047289352.1:p.Cys746Arg

Select item 148308342710.

rs1483083427 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 15:34252377 (GRCh38)
15:34544578 (GRCh37)
Canonical SPDI:: NC_000015.10:34252376:T:G
Gene:: SLC12A6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_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_000015.10:g.34252377T>G, NC_000015.9:g.34544578T>G, NG_007951.1:g.90688A>C, NM_001042496.2:c.1099A>C, NM_001042496.1:c.1099A>C, NM_001042494.2:c.949A>C, NM_001042494.1:c.949A>C, NM_133647.2:c.1126A>C, NM_133647.1:c.1126A>C, NM_001042497.2:c.1081A>C, NM_001042497.1:c.1081A>C, NM_001042495.2:c.949A>C, NM_001042495.1:c.949A>C, NM_005135.2:c.973A>C, NM_001365088.1:c.1126A>C, XM_006720793.5:c.979A>C, XM_006720793.4:c.979A>C, XM_006720793.3:c.979A>C, XM_006720793.2:c.979A>C, XM_006720793.1:c.979A>C, XR_931960.4:n.1462A>C, XR_931960.3:n.2376A>C, XR_931960.2:n.2172A>C, XR_931960.1:n.1132A>C, XM_011522269.4:c.1126A>C, XM_011522269.3:c.1126A>C, XM_011522269.2:c.1126A>C, XM_011522269.1:c.1126A>C, XM_047433396.1:c.826A>C, NP_001035961.1:p.Met367Leu, NP_001035959.1:p.Met317Leu, NP_598408.1:p.Met376Leu, NP_001035962.1:p.Met361Leu, NP_001035960.1:p.Met317Leu, NP_005126.1:p.Met325Leu, NP_001352017.1:p.Met376Leu, XP_006720856.1:p.Met327Leu, XP_011520571.1:p.Met376Leu, XP_047289352.1:p.Met276Leu

Select item 148171067911.

rs1481710679 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:34240677 (GRCh38)
15:34532878 (GRCh37)
Canonical SPDI:: NC_000015.10:34240676:G:A
Gene:: SLC12A6 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
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_000015.10:g.34240677G>A, NC_000015.9:g.34532878G>A, NG_007951.1:g.102388C>T, NM_001042496.2:c.2393C>T, NM_001042496.1:c.2393C>T, NM_001042494.2:c.2243C>T, NM_001042494.1:c.2243C>T, NM_133647.2:c.2420C>T, NM_133647.1:c.2420C>T, NM_001042497.2:c.2375C>T, NM_001042497.1:c.2375C>T, NM_001042495.2:c.2243C>T, NM_001042495.1:c.2243C>T, NM_005135.2:c.2267C>T, NM_001365088.1:c.2420C>T, XM_006720793.5:c.2273C>T, XM_006720793.4:c.2273C>T, XM_006720793.3:c.2273C>T, XM_006720793.2:c.2273C>T, XM_006720793.1:c.2273C>T, XR_931960.4:n.2756C>T, XR_931960.3:n.3670C>T, XR_931960.2:n.3466C>T, XR_931960.1:n.2426C>T, XM_047433396.1:c.2120C>T, NP_001035961.1:p.Ala798Val, NP_001035959.1:p.Ala748Val, NP_598408.1:p.Ala807Val, NP_001035962.1:p.Ala792Val, NP_001035960.1:p.Ala748Val, NP_005126.1:p.Ala756Val, NP_001352017.1:p.Ala807Val, XP_006720856.1:p.Ala758Val, XP_047289352.1:p.Ala707Val

Select item 148154050312.

rs1481540503 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 15:34250333 (GRCh38)
15:34542534 (GRCh37)
Canonical SPDI:: NC_000015.10:34250332:AAAAA:AAAA
Gene:: SLC12A6 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,frameshift_variant
Clinical significance:: pathogenic
Validated:: by frequency,by alfa
MAF:: AAAA=0./0 (ALFA)
HGVS:: NC_000015.10:g.34250337del, NC_000015.9:g.34542538del, NG_007951.1:g.92732del, NM_001042496.2:c.1587del, NM_001042496.1:c.1587del, NM_001042494.2:c.1437del, NM_001042494.1:c.1437del, NM_133647.2:c.1614del, NM_133647.1:c.1614del, NM_001042497.2:c.1569del, NM_001042497.1:c.1569del, NM_001042495.2:c.1437del, NM_001042495.1:c.1437del, NM_005135.2:c.1461del, NM_001365088.1:c.1614del, XM_006720793.5:c.1467del, XM_006720793.4:c.1467del, XM_006720793.3:c.1467del, XM_006720793.2:c.1467del, XM_006720793.1:c.1467del, XR_931960.4:n.1950del, XR_931960.3:n.2864del, XR_931960.2:n.2660del, XR_931960.1:n.1620del, XM_011522269.4:c.1614del, XM_011522269.3:c.1614del, XM_011522269.2:c.1614del, XM_011522269.1:c.1614del, XM_047433396.1:c.1314del, NP_001035961.1:p.Phe529fs, NP_001035959.1:p.Phe479fs, NP_598408.1:p.Phe538fs, NP_001035962.1:p.Phe523fs, NP_001035960.1:p.Phe479fs, NP_005126.1:p.Phe487fs, NP_001352017.1:p.Phe538fs, XP_006720856.1:p.Phe489fs, XP_011520571.1:p.Phe538fs, XP_047289352.1:p.Phe438fs

Select item 148121281213.

rs1481212812 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:34245711 (GRCh38)
15:34537912 (GRCh37)
Canonical SPDI:: NC_000015.10:34245710:G:A
Gene:: SLC12A6 (Varview), LOC124903461 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000015.10:g.34245711G>A, NC_000015.9:g.34537912G>A, NG_007951.1:g.97354C>T, NM_001042496.2:c.1779C>T, NM_001042496.1:c.1779C>T, NM_001042494.2:c.1629C>T, NM_001042494.1:c.1629C>T, NM_133647.2:c.1806C>T, NM_133647.1:c.1806C>T, NM_001042497.2:c.1761C>T, NM_001042497.1:c.1761C>T, NM_001042495.2:c.1629C>T, NM_001042495.1:c.1629C>T, NM_005135.2:c.1653C>T, NM_001365088.1:c.1806C>T, XM_006720793.5:c.1659C>T, XM_006720793.4:c.1659C>T, XM_006720793.3:c.1659C>T, XM_006720793.2:c.1659C>T, XM_006720793.1:c.1659C>T, XR_931960.4:n.2142C>T, XR_931960.3:n.3056C>T, XR_931960.2:n.2852C>T, XR_931960.1:n.1812C>T, XM_011522269.4:c.1806C>T, XM_011522269.3:c.1806C>T, XM_011522269.2:c.1806C>T, XM_011522269.1:c.1806C>T, XM_047433396.1:c.1506C>T, XR_007064576.1:n.1276G>A

Select item 148083407914.

rs1480834079 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:34240683 (GRCh38)
15:34532884 (GRCh37)
Canonical SPDI:: NC_000015.10:34240682:C:T
Gene:: SLC12A6 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
HGVS:: NC_000015.10:g.34240683C>T, NC_000015.9:g.34532884C>T, NG_007951.1:g.102382G>A, NM_001042496.2:c.2387G>A, NM_001042496.1:c.2387G>A, NM_001042494.2:c.2237G>A, NM_001042494.1:c.2237G>A, NM_133647.2:c.2414G>A, NM_133647.1:c.2414G>A, NM_001042497.2:c.2369G>A, NM_001042497.1:c.2369G>A, NM_001042495.2:c.2237G>A, NM_001042495.1:c.2237G>A, NM_005135.2:c.2261G>A, NM_001365088.1:c.2414G>A, XM_006720793.5:c.2267G>A, XM_006720793.4:c.2267G>A, XM_006720793.3:c.2267G>A, XM_006720793.2:c.2267G>A, XM_006720793.1:c.2267G>A, XR_931960.4:n.2750G>A, XR_931960.3:n.3664G>A, XR_931960.2:n.3460G>A, XR_931960.1:n.2420G>A, XM_047433396.1:c.2114G>A, NP_001035961.1:p.Gly796Asp, NP_001035959.1:p.Gly746Asp, NP_598408.1:p.Gly805Asp, NP_001035962.1:p.Gly790Asp, NP_001035960.1:p.Gly746Asp, NP_005126.1:p.Gly754Asp, NP_001352017.1:p.Gly805Asp, XP_006720856.1:p.Gly756Asp, XP_047289352.1:p.Gly705Asp

Select item 148082954815.

rs1480829548 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:34238349 (GRCh38)
15:34530550 (GRCh37)
Canonical SPDI:: NC_000015.10:34238348:G:A
Gene:: SLC12A6 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.34238349G>A, NC_000015.9:g.34530550G>A, NG_007951.1:g.104716C>T, NM_001042496.2:c.2658C>T, NM_001042496.1:c.2658C>T, NM_001042494.2:c.2508C>T, NM_001042494.1:c.2508C>T, NM_133647.2:c.2685C>T, NM_133647.1:c.2685C>T, NM_001042497.2:c.2640C>T, NM_001042497.1:c.2640C>T, NM_001042495.2:c.2508C>T, NM_001042495.1:c.2508C>T, NM_005135.2:c.2532C>T, NM_001365088.1:c.2685C>T, XM_006720793.5:c.2538C>T, XM_006720793.4:c.2538C>T, XM_006720793.3:c.2538C>T, XM_006720793.2:c.2538C>T, XM_006720793.1:c.2538C>T, XR_931960.4:n.3021C>T, XR_931960.3:n.3935C>T, XR_931960.2:n.3731C>T, XR_931960.1:n.2691C>T, XM_047433396.1:c.2385C>T

Select item 148076529416.

rs1480765294 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:34241252 (GRCh38)
15:34533453 (GRCh37)
Canonical SPDI:: NC_000015.10:34241251:G:A
Gene:: SLC12A6 (Varview), LOC124903461 (Varview)
Functional Consequence:: 3_prime_UTR_variant,2KB_upstream_variant,missense_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.34241252G>A, NC_000015.9:g.34533453G>A, NG_007951.1:g.101813C>T, NM_001042496.2:c.2221C>T, NM_001042496.1:c.2221C>T, NM_001042494.2:c.2071C>T, NM_001042494.1:c.2071C>T, NM_133647.2:c.2248C>T, NM_133647.1:c.2248C>T, NM_001042497.2:c.2203C>T, NM_001042497.1:c.2203C>T, NM_001042495.2:c.2071C>T, NM_001042495.1:c.2071C>T, NM_005135.2:c.2095C>T, NM_001365088.1:c.2248C>T, XM_006720793.5:c.2101C>T, XM_006720793.4:c.2101C>T, XM_006720793.3:c.2101C>T, XM_006720793.2:c.2101C>T, XM_006720793.1:c.2101C>T, XR_931960.4:n.2584C>T, XR_931960.3:n.3498C>T, XR_931960.2:n.3294C>T, XR_931960.1:n.2254C>T, XM_011522269.4:c.*85C>T, XM_011522269.1:c.*85C>T, XM_047433396.1:c.1948C>T, NP_001035961.1:p.Pro741Ser, NP_001035959.1:p.Pro691Ser, NP_598408.1:p.Pro750Ser, NP_001035962.1:p.Pro735Ser, NP_001035960.1:p.Pro691Ser, NP_005126.1:p.Pro699Ser, NP_001352017.1:p.Pro750Ser, XP_006720856.1:p.Pro701Ser, XP_047289352.1:p.Pro650Ser

Select item 147953780717.

rs1479537807 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 15:34239053 (GRCh38)
15:34531254 (GRCh37)
Canonical SPDI:: NC_000015.10:34239052:AA:A
Gene:: SLC12A6 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,frameshift_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0.000084/1 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.34239054del, NC_000015.9:g.34531255del, NG_007951.1:g.104012del, NM_001042496.2:c.2517del, NM_001042496.1:c.2517del, NM_001042494.2:c.2367del, NM_001042494.1:c.2367del, NM_133647.2:c.2544del, NM_133647.1:c.2544del, NM_001042497.2:c.2499del, NM_001042497.1:c.2499del, NM_001042495.2:c.2367del, NM_001042495.1:c.2367del, NM_005135.2:c.2391del, NM_001365088.1:c.2544del, XM_006720793.5:c.2397del, XM_006720793.4:c.2397del, XM_006720793.3:c.2397del, XM_006720793.2:c.2397del, XM_006720793.1:c.2397del, XR_931960.4:n.2880del, XR_931960.3:n.3794del, XR_931960.2:n.3590del, XR_931960.1:n.2550del, XM_047433396.1:c.2244del, NP_001035961.1:p.Gly841fs, NP_001035959.1:p.Gly791fs, NP_598408.1:p.Gly850fs, NP_001035962.1:p.Gly835fs, NP_001035960.1:p.Gly791fs, NP_005126.1:p.Gly799fs, NP_001352017.1:p.Gly850fs, XP_006720856.1:p.Gly801fs, XP_047289352.1:p.Gly750fs

Select item 147878604918.

rs1478786049 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:34260969 (GRCh38)
15:34553170 (GRCh37)
Canonical SPDI:: NC_000015.10:34260968:T:C
Gene:: SLC12A6 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.34260969T>C, NC_000015.9:g.34553170T>C, NG_007951.1:g.82096A>G, NM_001042496.2:c.341A>G, NM_001042496.1:c.341A>G, NM_001042494.2:c.191A>G, NM_001042494.1:c.191A>G, NM_133647.2:c.368A>G, NM_133647.1:c.368A>G, NM_001042497.2:c.323A>G, NM_001042497.1:c.323A>G, NM_001042495.2:c.191A>G, NM_001042495.1:c.191A>G, NM_005135.2:c.215A>G, NM_001365088.1:c.368A>G, XM_006720793.5:c.368A>G, XM_006720793.4:c.368A>G, XM_006720793.3:c.368A>G, XM_006720793.2:c.368A>G, XM_006720793.1:c.368A>G, XR_931960.4:n.704A>G, XR_931960.3:n.1618A>G, XR_931960.2:n.1414A>G, XR_931960.1:n.374A>G, XM_011522269.4:c.368A>G, XM_011522269.3:c.368A>G, XM_011522269.2:c.368A>G, XM_011522269.1:c.368A>G, XM_047433396.1:c.215A>G, NP_001035961.1:p.Glu114Gly, NP_001035959.1:p.Glu64Gly, NP_598408.1:p.Glu123Gly, NP_001035962.1:p.Glu108Gly, NP_001035960.1:p.Glu64Gly, NP_005126.1:p.Glu72Gly, NP_001352017.1:p.Glu123Gly, XP_006720856.1:p.Glu123Gly, XP_011520571.1:p.Glu123Gly, XP_047289352.1:p.Glu72Gly

Select item 147758647219.

rs1477586472 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:34233971 (GRCh38)
15:34526172 (GRCh37)
Canonical SPDI:: NC_000015.10:34233970:G:A
Gene:: SLC12A6 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.34233971G>A, NC_000015.9:g.34526172G>A, NG_007951.1:g.109094C>T, NM_001042496.2:c.3336C>T, NM_001042496.1:c.3336C>T, NM_001042494.2:c.3186C>T, NM_001042494.1:c.3186C>T, NM_133647.2:c.3363C>T, NM_133647.1:c.3363C>T, NM_001042497.2:c.3318C>T, NM_001042497.1:c.3318C>T, NM_001042495.2:c.3186C>T, NM_001042495.1:c.3186C>T, NM_005135.2:c.3210C>T, NM_001365088.1:c.3363C>T, XM_006720793.5:c.3216C>T, XM_006720793.4:c.3216C>T, XM_006720793.3:c.3216C>T, XM_006720793.2:c.3216C>T, XM_006720793.1:c.3216C>T, XM_047433396.1:c.3063C>T

Select item 147728714320.

rs1477287143 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:34250913 (GRCh38)
15:34543114 (GRCh37)
Canonical SPDI:: NC_000015.10:34250912:A:C
Gene:: SLC12A6 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000015.10:g.34250913A>C, NC_000015.9:g.34543114A>C, NG_007951.1:g.92152T>G, NM_001042496.2:c.1451T>G, NM_001042496.1:c.1451T>G, NM_001042494.2:c.1301T>G, NM_001042494.1:c.1301T>G, NM_133647.2:c.1478T>G, NM_133647.1:c.1478T>G, NM_001042497.2:c.1433T>G, NM_001042497.1:c.1433T>G, NM_001042495.2:c.1301T>G, NM_001042495.1:c.1301T>G, NM_005135.2:c.1325T>G, NM_001365088.1:c.1478T>G, XM_006720793.5:c.1331T>G, XM_006720793.4:c.1331T>G, XM_006720793.3:c.1331T>G, XM_006720793.2:c.1331T>G, XM_006720793.1:c.1331T>G, XR_931960.4:n.1814T>G, XR_931960.3:n.2728T>G, XR_931960.2:n.2524T>G, XR_931960.1:n.1484T>G, XM_011522269.4:c.1478T>G, XM_011522269.3:c.1478T>G, XM_011522269.2:c.1478T>G, XM_011522269.1:c.1478T>G, XM_047433396.1:c.1178T>G, NP_001035961.1:p.Phe484Cys, NP_001035959.1:p.Phe434Cys, NP_598408.1:p.Phe493Cys, NP_001035962.1:p.Phe478Cys, NP_001035960.1:p.Phe434Cys, NP_005126.1:p.Phe442Cys, NP_001352017.1:p.Phe493Cys, XP_006720856.1:p.Phe444Cys, XP_011520571.1:p.Phe493Cys, XP_047289352.1:p.Phe393Cys

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