SNP Links for Protein (Select 1062593964) - SNP

Links from Protein

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Select item 14906355441.

rs1490635544 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:38596273 (GRCh38)
9:38596270 (GRCh37)
Canonical SPDI:: NC_000009.12:38596272:A:G
Gene:: ANKRD18A (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)
G=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.38596273A>G, NC_000009.11:g.38596270A>G, NM_147195.4:c.1067T>C, NM_147195.3:c.1067T>C, NM_147195.2:c.1067T>C, XM_011517839.4:c.1067T>C, XM_011517839.3:c.1067T>C, XM_011517839.2:c.1067T>C, XM_011517839.1:c.1067T>C, XM_017014576.3:c.1253T>C, XM_017014576.2:c.1253T>C, XM_017014576.1:c.1253T>C, XM_024447483.2:c.1067T>C, XM_024447483.1:c.1067T>C, NM_001331100.2:c.1253T>C, NM_001331100.1:c.1253T>C, XM_024447479.2:c.1256T>C, XM_024447479.1:c.1256T>C, XM_024447480.2:c.1256T>C, XM_024447480.1:c.1256T>C, XM_024447481.2:c.1256T>C, XM_024447481.1:c.1256T>C, XM_024447482.2:c.1256T>C, XM_024447482.1:c.1256T>C, NP_671728.2:p.Ile356Thr, XP_011516141.1:p.Ile356Thr, XP_016870065.1:p.Ile418Thr, XP_024303251.1:p.Ile356Thr, NP_001318029.1:p.Ile418Thr, XP_024303247.1:p.Ile419Thr, XP_024303248.1:p.Ile419Thr, XP_024303249.1:p.Ile419Thr, XP_024303250.1:p.Ile419Thr

Select item 14896410742.

rs1489641074 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:38596139 (GRCh38)
9:38596136 (GRCh37)
Canonical SPDI:: NC_000009.12:38596138:G:A
Gene:: ANKRD18A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.38596139G>A, NC_000009.11:g.38596136G>A, NM_147195.4:c.1201C>T, NM_147195.3:c.1201C>T, NM_147195.2:c.1201C>T, XM_011517839.4:c.1201C>T, XM_011517839.3:c.1201C>T, XM_011517839.2:c.1201C>T, XM_011517839.1:c.1201C>T, XM_017014576.3:c.1387C>T, XM_017014576.2:c.1387C>T, XM_017014576.1:c.1387C>T, XM_024447483.2:c.1201C>T, XM_024447483.1:c.1201C>T, NM_001331100.2:c.1387C>T, NM_001331100.1:c.1387C>T, XM_024447479.2:c.1390C>T, XM_024447479.1:c.1390C>T, XM_024447480.2:c.1390C>T, XM_024447480.1:c.1390C>T, XM_024447481.2:c.1390C>T, XM_024447481.1:c.1390C>T, XM_024447482.2:c.1390C>T, XM_024447482.1:c.1390C>T

Select item 14894576273.

rs1489457627 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:38596161 (GRCh38)
9:38596158 (GRCh37)
Canonical SPDI:: NC_000009.12:38596160:A:G
Gene:: ANKRD18A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000009.12:g.38596161A>G, NC_000009.11:g.38596158A>G, NM_147195.4:c.1179T>C, NM_147195.3:c.1179T>C, NM_147195.2:c.1179T>C, XM_011517839.4:c.1179T>C, XM_011517839.3:c.1179T>C, XM_011517839.2:c.1179T>C, XM_011517839.1:c.1179T>C, XM_017014576.3:c.1365T>C, XM_017014576.2:c.1365T>C, XM_017014576.1:c.1365T>C, XM_024447483.2:c.1179T>C, XM_024447483.1:c.1179T>C, NM_001331100.2:c.1365T>C, NM_001331100.1:c.1365T>C, XM_024447479.2:c.1368T>C, XM_024447479.1:c.1368T>C, XM_024447480.2:c.1368T>C, XM_024447480.1:c.1368T>C, XM_024447481.2:c.1368T>C, XM_024447481.1:c.1368T>C, XM_024447482.2:c.1368T>C, XM_024447482.1:c.1368T>C

Select item 14883462074.

rs1488346207 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:38607469 (GRCh38)
9:38607466 (GRCh37)
Canonical SPDI:: NC_000009.12:38607468:A:G
Gene:: ANKRD18A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.38607469A>G, NC_000009.11:g.38607466A>G, NM_147195.4:c.765T>C, NM_147195.3:c.765T>C, NM_147195.2:c.765T>C, XM_011517839.4:c.765T>C, XM_011517839.3:c.765T>C, XM_011517839.2:c.765T>C, XM_011517839.1:c.765T>C, XM_017014576.3:c.765T>C, XM_017014576.2:c.765T>C, XM_017014576.1:c.765T>C, XM_024447483.2:c.765T>C, XM_024447483.1:c.765T>C, NM_001331100.2:c.765T>C, NM_001331100.1:c.765T>C, XM_024447479.2:c.765T>C, XM_024447479.1:c.765T>C, XM_024447480.2:c.765T>C, XM_024447480.1:c.765T>C, XM_024447481.2:c.765T>C, XM_024447481.1:c.765T>C, XM_024447482.2:c.765T>C, XM_024447482.1:c.765T>C

Select item 14878218235.

rs1487821823 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:38595581 (GRCh38)
9:38595578 (GRCh37)
Canonical SPDI:: NC_000009.12:38595580:C:A
Gene:: ANKRD18A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.38595581C>A, NC_000009.11:g.38595578C>A, NM_147195.4:c.1759G>T, NM_147195.3:c.1759G>T, NM_147195.2:c.1759G>T, XM_011517839.4:c.1759G>T, XM_011517839.3:c.1759G>T, XM_011517839.2:c.1759G>T, XM_011517839.1:c.1759G>T, XM_017014576.3:c.1945G>T, XM_017014576.2:c.1945G>T, XM_017014576.1:c.1945G>T, XM_024447483.2:c.1759G>T, XM_024447483.1:c.1759G>T, NM_001331100.2:c.1945G>T, NM_001331100.1:c.1945G>T, XM_024447479.2:c.1948G>T, XM_024447479.1:c.1948G>T, XM_024447480.2:c.1948G>T, XM_024447480.1:c.1948G>T, XM_024447481.2:c.1948G>T, XM_024447481.1:c.1948G>T, XM_024447482.2:c.1948G>T, XM_024447482.1:c.1948G>T, NP_671728.2:p.Asp587Tyr, XP_011516141.1:p.Asp587Tyr, XP_016870065.1:p.Asp649Tyr, XP_024303251.1:p.Asp587Tyr, NP_001318029.1:p.Asp649Tyr, XP_024303247.1:p.Asp650Tyr, XP_024303248.1:p.Asp650Tyr, XP_024303249.1:p.Asp650Tyr, XP_024303250.1:p.Asp650Tyr

Select item 14875338676.

rs1487533867 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:38595494 (GRCh38)
9:38595491 (GRCh37)
Canonical SPDI:: NC_000009.12:38595493:C:G
Gene:: ANKRD18A (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_000009.12:g.38595494C>G, NC_000009.11:g.38595491C>G, NM_147195.4:c.1846G>C, NM_147195.3:c.1846G>C, NM_147195.2:c.1846G>C, XM_011517839.4:c.1846G>C, XM_011517839.3:c.1846G>C, XM_011517839.2:c.1846G>C, XM_011517839.1:c.1846G>C, XM_017014576.3:c.2032G>C, XM_017014576.2:c.2032G>C, XM_017014576.1:c.2032G>C, XM_024447483.2:c.1846G>C, XM_024447483.1:c.1846G>C, NM_001331100.2:c.2032G>C, NM_001331100.1:c.2032G>C, XM_024447479.2:c.2035G>C, XM_024447479.1:c.2035G>C, XM_024447480.2:c.2035G>C, XM_024447480.1:c.2035G>C, XM_024447481.2:c.2035G>C, XM_024447481.1:c.2035G>C, XM_024447482.2:c.2035G>C, XM_024447482.1:c.2035G>C, NP_671728.2:p.Glu616Gln, XP_011516141.1:p.Glu616Gln, XP_016870065.1:p.Glu678Gln, XP_024303251.1:p.Glu616Gln, NP_001318029.1:p.Glu678Gln, XP_024303247.1:p.Glu679Gln, XP_024303248.1:p.Glu679Gln, XP_024303249.1:p.Glu679Gln, XP_024303250.1:p.Glu679Gln

Select item 14872416297.

rs1487241629 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:38604269 (GRCh38)
9:38604266 (GRCh37)
Canonical SPDI:: NC_000009.12:38604268:G:C
Gene:: ANKRD18A (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.38604269G>C, NC_000009.11:g.38604266G>C, XM_017014576.3:c.881C>G, XM_017014576.2:c.881C>G, XM_017014576.1:c.881C>G, NM_001331100.2:c.881C>G, NM_001331100.1:c.881C>G, XM_024447479.2:c.881C>G, XM_024447479.1:c.881C>G, XM_024447480.2:c.881C>G, XM_024447480.1:c.881C>G, XM_024447481.2:c.881C>G, XM_024447481.1:c.881C>G, XM_024447482.2:c.881C>G, XM_024447482.1:c.881C>G, XP_016870065.1:p.Ser294Cys, NP_001318029.1:p.Ser294Cys, XP_024303247.1:p.Ser294Cys, XP_024303248.1:p.Ser294Cys, XP_024303249.1:p.Ser294Cys, XP_024303250.1:p.Ser294Cys

Select item 14870457618.

rs1487045761 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 9:38620118 (GRCh38)
9:38620115 (GRCh37)
Canonical SPDI:: NC_000009.12:38620117:G:C,NC_000009.12:38620117:G:T
Gene:: FAM201A (Varview), ANKRD18A (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,synonymous_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000084/1 (ALFA)
C=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.38620118G>C, NC_000009.12:g.38620118G>T, NC_000009.11:g.38620115G>C, NC_000009.11:g.38620115G>T, NM_147195.4:c.168C>G, NM_147195.4:c.168C>A, NM_147195.3:c.168C>G, NM_147195.3:c.168C>A, NM_147195.2:c.168C>G, NM_147195.2:c.168C>A, XM_011517839.4:c.168C>G, XM_011517839.4:c.168C>A, XM_011517839.3:c.168C>G, XM_011517839.3:c.168C>A, XM_011517839.2:c.168C>G, XM_011517839.2:c.168C>A, XM_011517839.1:c.168C>G, XM_011517839.1:c.168C>A, XM_017014576.3:c.168C>G, XM_017014576.3:c.168C>A, XM_017014576.2:c.168C>G, XM_017014576.2:c.168C>A, XM_017014576.1:c.168C>G, XM_017014576.1:c.168C>A, XM_024447483.2:c.168C>G, XM_024447483.2:c.168C>A, XM_024447483.1:c.168C>G, XM_024447483.1:c.168C>A, NM_001331100.2:c.168C>G, NM_001331100.2:c.168C>A, NM_001331100.1:c.168C>G, NM_001331100.1:c.168C>A, XM_024447479.2:c.168C>G, XM_024447479.2:c.168C>A, XM_024447479.1:c.168C>G, XM_024447479.1:c.168C>A, XM_024447480.2:c.168C>G, XM_024447480.2:c.168C>A, XM_024447480.1:c.168C>G, XM_024447480.1:c.168C>A, XM_024447481.2:c.168C>G, XM_024447481.2:c.168C>A, XM_024447481.1:c.168C>G, XM_024447481.1:c.168C>A, XM_024447482.2:c.168C>G, XM_024447482.2:c.168C>A, XM_024447482.1:c.168C>G, XM_024447482.1:c.168C>A

Select item 14864890569.

rs1486489056 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 9:38596265 (GRCh38)
9:38596262 (GRCh37)
Canonical SPDI:: NC_000009.12:38596264:T:A
Gene:: ANKRD18A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000014/2 (GnomAD_exomes)
HGVS:: NC_000009.12:g.38596265T>A, NC_000009.11:g.38596262T>A, NM_147195.4:c.1075A>T, NM_147195.3:c.1075A>T, NM_147195.2:c.1075A>T, XM_011517839.4:c.1075A>T, XM_011517839.3:c.1075A>T, XM_011517839.2:c.1075A>T, XM_011517839.1:c.1075A>T, XM_017014576.3:c.1261A>T, XM_017014576.2:c.1261A>T, XM_017014576.1:c.1261A>T, XM_024447483.2:c.1075A>T, XM_024447483.1:c.1075A>T, NM_001331100.2:c.1261A>T, NM_001331100.1:c.1261A>T, XM_024447479.2:c.1264A>T, XM_024447479.1:c.1264A>T, XM_024447480.2:c.1264A>T, XM_024447480.1:c.1264A>T, XM_024447481.2:c.1264A>T, XM_024447481.1:c.1264A>T, XM_024447482.2:c.1264A>T, XM_024447482.1:c.1264A>T, NP_671728.2:p.Ile359Phe, XP_011516141.1:p.Ile359Phe, XP_016870065.1:p.Ile421Phe, XP_024303251.1:p.Ile359Phe, NP_001318029.1:p.Ile421Phe, XP_024303247.1:p.Ile422Phe, XP_024303248.1:p.Ile422Phe, XP_024303249.1:p.Ile422Phe, XP_024303250.1:p.Ile422Phe

Select item 148565982310.

rs1485659823 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 9:38620122 (GRCh38)
9:38620119 (GRCh37)
Canonical SPDI:: NC_000009.12:38620121:G:A,NC_000009.12:38620121:G:T
Gene:: FAM201A (Varview), ANKRD18A (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000094/1 (ALFA)
T=0.000006/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.38620122G>A, NC_000009.12:g.38620122G>T, NC_000009.11:g.38620119G>A, NC_000009.11:g.38620119G>T, NM_147195.4:c.164C>T, NM_147195.4:c.164C>A, NM_147195.3:c.164C>T, NM_147195.3:c.164C>A, NM_147195.2:c.164C>T, NM_147195.2:c.164C>A, XM_011517839.4:c.164C>T, XM_011517839.4:c.164C>A, XM_011517839.3:c.164C>T, XM_011517839.3:c.164C>A, XM_011517839.2:c.164C>T, XM_011517839.2:c.164C>A, XM_011517839.1:c.164C>T, XM_011517839.1:c.164C>A, XM_017014576.3:c.164C>T, XM_017014576.3:c.164C>A, XM_017014576.2:c.164C>T, XM_017014576.2:c.164C>A, XM_017014576.1:c.164C>T, XM_017014576.1:c.164C>A, XM_024447483.2:c.164C>T, XM_024447483.2:c.164C>A, XM_024447483.1:c.164C>T, XM_024447483.1:c.164C>A, NM_001331100.2:c.164C>T, NM_001331100.2:c.164C>A, NM_001331100.1:c.164C>T, NM_001331100.1:c.164C>A, XM_024447479.2:c.164C>T, XM_024447479.2:c.164C>A, XM_024447479.1:c.164C>T, XM_024447479.1:c.164C>A, XM_024447480.2:c.164C>T, XM_024447480.2:c.164C>A, XM_024447480.1:c.164C>T, XM_024447480.1:c.164C>A, XM_024447481.2:c.164C>T, XM_024447481.2:c.164C>A, XM_024447481.1:c.164C>T, XM_024447481.1:c.164C>A, XM_024447482.2:c.164C>T, XM_024447482.2:c.164C>A, XM_024447482.1:c.164C>T, XM_024447482.1:c.164C>A, NP_671728.2:p.Thr55Met, NP_671728.2:p.Thr55Lys, XP_011516141.1:p.Thr55Met, XP_011516141.1:p.Thr55Lys, XP_016870065.1:p.Thr55Met, XP_016870065.1:p.Thr55Lys, XP_024303251.1:p.Thr55Met, XP_024303251.1:p.Thr55Lys, NP_001318029.1:p.Thr55Met, NP_001318029.1:p.Thr55Lys, XP_024303247.1:p.Thr55Met, XP_024303247.1:p.Thr55Lys, XP_024303248.1:p.Thr55Met, XP_024303248.1:p.Thr55Lys, XP_024303249.1:p.Thr55Met, XP_024303249.1:p.Thr55Lys, XP_024303250.1:p.Thr55Met, XP_024303250.1:p.Thr55Lys

Select item 148513868911.

rs1485138689 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:38607488 (GRCh38)
9:38607485 (GRCh37)
Canonical SPDI:: NC_000009.12:38607487:C:T
Gene:: ANKRD18A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000036/5 (GnomAD)
T=0.000051/6 (GnomAD_exomes)
HGVS:: NC_000009.12:g.38607488C>T, NC_000009.11:g.38607485C>T, NM_147195.4:c.746G>A, NM_147195.3:c.746G>A, NM_147195.2:c.746G>A, XM_011517839.4:c.746G>A, XM_011517839.3:c.746G>A, XM_011517839.2:c.746G>A, XM_011517839.1:c.746G>A, XM_017014576.3:c.746G>A, XM_017014576.2:c.746G>A, XM_017014576.1:c.746G>A, XM_024447483.2:c.746G>A, XM_024447483.1:c.746G>A, NM_001331100.2:c.746G>A, NM_001331100.1:c.746G>A, XM_024447479.2:c.746G>A, XM_024447479.1:c.746G>A, XM_024447480.2:c.746G>A, XM_024447480.1:c.746G>A, XM_024447481.2:c.746G>A, XM_024447481.1:c.746G>A, XM_024447482.2:c.746G>A, XM_024447482.1:c.746G>A, NP_671728.2:p.Arg249Gln, XP_011516141.1:p.Arg249Gln, XP_016870065.1:p.Arg249Gln, XP_024303251.1:p.Arg249Gln, NP_001318029.1:p.Arg249Gln, XP_024303247.1:p.Arg249Gln, XP_024303248.1:p.Arg249Gln, XP_024303249.1:p.Arg249Gln, XP_024303250.1:p.Arg249Gln

Select item 148505573612.

rs1485055736 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 9:38575599 (GRCh38)
9:38575596 (GRCh37)
Canonical SPDI:: NC_000009.12:38575598:C:G,NC_000009.12:38575598:C:T
Gene:: ANKRD18A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.38575599C>G, NC_000009.12:g.38575599C>T, NC_000009.11:g.38575596C>G, NC_000009.11:g.38575596C>T, NM_147195.4:c.2841G>C, NM_147195.4:c.2841G>A, NM_147195.3:c.2841G>C, NM_147195.3:c.2841G>A, NM_147195.2:c.2841G>C, NM_147195.2:c.2841G>A, XM_011517839.4:c.2841G>C, XM_011517839.4:c.2841G>A, XM_011517839.3:c.2841G>C, XM_011517839.3:c.2841G>A, XM_011517839.2:c.2841G>C, XM_011517839.2:c.2841G>A, XM_011517839.1:c.2841G>C, XM_011517839.1:c.2841G>A, XM_017014576.3:c.3027G>C, XM_017014576.3:c.3027G>A, XM_017014576.2:c.3027G>C, XM_017014576.2:c.3027G>A, XM_017014576.1:c.3027G>C, XM_017014576.1:c.3027G>A, XM_024447483.2:c.2841G>C, XM_024447483.2:c.2841G>A, XM_024447483.1:c.2841G>C, XM_024447483.1:c.2841G>A, NM_001331100.2:c.3027G>C, NM_001331100.2:c.3027G>A, NM_001331100.1:c.3027G>C, NM_001331100.1:c.3027G>A, XM_024447479.2:c.3030G>C, XM_024447479.2:c.3030G>A, XM_024447479.1:c.3030G>C, XM_024447479.1:c.3030G>A, XM_024447480.2:c.3030G>C, XM_024447480.2:c.3030G>A, XM_024447480.1:c.3030G>C, XM_024447480.1:c.3030G>A, XM_024447481.2:c.3030G>C, XM_024447481.2:c.3030G>A, XM_024447481.1:c.3030G>C, XM_024447481.1:c.3030G>A, XM_024447482.2:c.3030G>C, XM_024447482.2:c.3030G>A, XM_024447482.1:c.3030G>C, XM_024447482.1:c.3030G>A, NP_671728.2:p.Glu947Asp, XP_011516141.1:p.Glu947Asp, XP_016870065.1:p.Glu1009Asp, XP_024303251.1:p.Glu947Asp, NP_001318029.1:p.Glu1009Asp, XP_024303247.1:p.Glu1010Asp, XP_024303248.1:p.Glu1010Asp, XP_024303249.1:p.Glu1010Asp, XP_024303250.1:p.Glu1010Asp

Select item 148480586113.

rs1484805861 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:38611298 (GRCh38)
9:38611295 (GRCh37)
Canonical SPDI:: NC_000009.12:38611297:A:G
Gene:: ANKRD18A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (Korea1K)
G=0.000007/1 (GnomAD)
G=0.000008/1 (GnomAD_exomes)
G=0.00003/8 (TOPMED)
G=0.000142/2 (TOMMO)
G=0.000342/1 (KOREAN)
HGVS:: NC_000009.12:g.38611298A>G, NC_000009.11:g.38611295A>G, NM_147195.4:c.519T>C, NM_147195.3:c.519T>C, NM_147195.2:c.519T>C, XM_011517839.4:c.519T>C, XM_011517839.3:c.519T>C, XM_011517839.2:c.519T>C, XM_011517839.1:c.519T>C, XM_017014576.3:c.519T>C, XM_017014576.2:c.519T>C, XM_017014576.1:c.519T>C, XM_024447483.2:c.519T>C, XM_024447483.1:c.519T>C, NM_001331100.2:c.519T>C, NM_001331100.1:c.519T>C, XM_024447479.2:c.519T>C, XM_024447479.1:c.519T>C, XM_024447480.2:c.519T>C, XM_024447480.1:c.519T>C, XM_024447481.2:c.519T>C, XM_024447481.1:c.519T>C, XM_024447482.2:c.519T>C, XM_024447482.1:c.519T>C

Select item 148376803214.

rs1483768032 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:38595836 (GRCh38)
9:38595833 (GRCh37)
Canonical SPDI:: NC_000009.12:38595835:A:G
Gene:: ANKRD18A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0.0002/1 (ALFA)
HGVS:: NC_000009.12:g.38595836A>G, NC_000009.11:g.38595833A>G, NM_147195.4:c.1504T>C, NM_147195.3:c.1504T>C, NM_147195.2:c.1504T>C, XM_011517839.4:c.1504T>C, XM_011517839.3:c.1504T>C, XM_011517839.2:c.1504T>C, XM_011517839.1:c.1504T>C, XM_017014576.3:c.1690T>C, XM_017014576.2:c.1690T>C, XM_017014576.1:c.1690T>C, XM_024447483.2:c.1504T>C, XM_024447483.1:c.1504T>C, NM_001331100.2:c.1690T>C, NM_001331100.1:c.1690T>C, XM_024447479.2:c.1693T>C, XM_024447479.1:c.1693T>C, XM_024447480.2:c.1693T>C, XM_024447480.1:c.1693T>C, XM_024447481.2:c.1693T>C, XM_024447481.1:c.1693T>C, XM_024447482.2:c.1693T>C, XM_024447482.1:c.1693T>C

Select item 148240780015.

rs1482407800 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 9:38575544 (GRCh38)
9:38575541 (GRCh37)
Canonical SPDI:: NC_000009.12:38575543:T:G
Gene:: ANKRD18A (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=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.38575544T>G, NC_000009.11:g.38575541T>G, NM_147195.4:c.2896A>C, NM_147195.3:c.2896A>C, NM_147195.2:c.2896A>C, XM_011517839.4:c.2896A>C, XM_011517839.3:c.2896A>C, XM_011517839.2:c.2896A>C, XM_011517839.1:c.2896A>C, XM_017014576.3:c.3082A>C, XM_017014576.2:c.3082A>C, XM_017014576.1:c.3082A>C, XM_024447483.2:c.2896A>C, XM_024447483.1:c.2896A>C, NM_001331100.2:c.3082A>C, NM_001331100.1:c.3082A>C, XM_024447479.2:c.3085A>C, XM_024447479.1:c.3085A>C, XM_024447480.2:c.3085A>C, XM_024447480.1:c.3085A>C, XM_024447481.2:c.3085A>C, XM_024447481.1:c.3085A>C, XM_024447482.2:c.3085A>C, XM_024447482.1:c.3085A>C, NP_671728.2:p.Lys966Gln, XP_011516141.1:p.Lys966Gln, XP_016870065.1:p.Lys1028Gln, XP_024303251.1:p.Lys966Gln, NP_001318029.1:p.Lys1028Gln, XP_024303247.1:p.Lys1029Gln, XP_024303248.1:p.Lys1029Gln, XP_024303249.1:p.Lys1029Gln, XP_024303250.1:p.Lys1029Gln

Select item 148186563616.

rs1481865636 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 9:38596030 (GRCh38)
9:38596027 (GRCh37)
Canonical SPDI:: NC_000009.12:38596029:A:C
Gene:: ANKRD18A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.38596030A>C, NC_000009.11:g.38596027A>C, NM_147195.4:c.1310T>G, NM_147195.3:c.1310T>G, NM_147195.2:c.1310T>G, XM_011517839.4:c.1310T>G, XM_011517839.3:c.1310T>G, XM_011517839.2:c.1310T>G, XM_011517839.1:c.1310T>G, XM_017014576.3:c.1496T>G, XM_017014576.2:c.1496T>G, XM_017014576.1:c.1496T>G, XM_024447483.2:c.1310T>G, XM_024447483.1:c.1310T>G, NM_001331100.2:c.1496T>G, NM_001331100.1:c.1496T>G, XM_024447479.2:c.1499T>G, XM_024447479.1:c.1499T>G, XM_024447480.2:c.1499T>G, XM_024447480.1:c.1499T>G, XM_024447481.2:c.1499T>G, XM_024447481.1:c.1499T>G, XM_024447482.2:c.1499T>G, XM_024447482.1:c.1499T>G, NP_671728.2:p.Val437Gly, XP_011516141.1:p.Val437Gly, XP_016870065.1:p.Val499Gly, XP_024303251.1:p.Val437Gly, NP_001318029.1:p.Val499Gly, XP_024303247.1:p.Val500Gly, XP_024303248.1:p.Val500Gly, XP_024303249.1:p.Val500Gly, XP_024303250.1:p.Val500Gly

Select item 148132389717.

rs1481323897 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 9:38604888 (GRCh38)
9:38604885 (GRCh37)
Canonical SPDI:: NC_000009.12:38604887:A:T
Gene:: ANKRD18A (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000009.12:g.38604888A>T, NC_000009.11:g.38604885A>T, XM_017014576.3:c.837T>A, XM_017014576.2:c.837T>A, XM_017014576.1:c.837T>A, NM_001331100.2:c.837T>A, NM_001331100.1:c.837T>A, XM_024447479.2:c.837T>A, XM_024447479.1:c.837T>A, XM_024447480.2:c.837T>A, XM_024447480.1:c.837T>A, XM_024447481.2:c.837T>A, XM_024447481.1:c.837T>A, XM_024447482.2:c.837T>A, XM_024447482.1:c.837T>A, XP_016870065.1:p.Phe279Leu, NP_001318029.1:p.Phe279Leu, XP_024303247.1:p.Phe279Leu, XP_024303248.1:p.Phe279Leu, XP_024303249.1:p.Phe279Leu, XP_024303250.1:p.Phe279Leu

Select item 148021573218.

rs1480215732 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:38577990 (GRCh38)
9:38577987 (GRCh37)
Canonical SPDI:: NC_000009.12:38577989:T:C
Gene:: ANKRD18A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000084/1 (ALFA)
C=0.000017/3 (GnomAD_exomes)
C=0.000026/7 (TOPMED)
C=0.000043/6 (GnomAD)
HGVS:: NC_000009.12:g.38577990T>C, NC_000009.11:g.38577987T>C, NM_147195.4:c.2406A>G, NM_147195.3:c.2406A>G, NM_147195.2:c.2406A>G, XM_011517839.4:c.2406A>G, XM_011517839.3:c.2406A>G, XM_011517839.2:c.2406A>G, XM_011517839.1:c.2406A>G, XM_017014576.3:c.2592A>G, XM_017014576.2:c.2592A>G, XM_017014576.1:c.2592A>G, XM_024447483.2:c.2406A>G, XM_024447483.1:c.2406A>G, NM_001331100.2:c.2592A>G, NM_001331100.1:c.2592A>G, XM_024447479.2:c.2595A>G, XM_024447479.1:c.2595A>G, XM_024447480.2:c.2595A>G, XM_024447480.1:c.2595A>G, XM_024447481.2:c.2595A>G, XM_024447481.1:c.2595A>G, XM_024447482.2:c.2595A>G, XM_024447482.1:c.2595A>G

Select item 147996068119.

rs1479960681 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 9:38616038 (GRCh38)
9:38616035 (GRCh37)
Canonical SPDI:: NC_000009.12:38616037:A:C,NC_000009.12:38616037:A:G
Gene:: ANKRD18A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.38616038A>C, NC_000009.12:g.38616038A>G, NC_000009.11:g.38616035A>C, NC_000009.11:g.38616035A>G, NM_147195.4:c.213T>G, NM_147195.4:c.213T>C, NM_147195.3:c.213T>G, NM_147195.3:c.213T>C, NM_147195.2:c.213T>G, NM_147195.2:c.213T>C, XM_011517839.4:c.213T>G, XM_011517839.4:c.213T>C, XM_011517839.3:c.213T>G, XM_011517839.3:c.213T>C, XM_011517839.2:c.213T>G, XM_011517839.2:c.213T>C, XM_011517839.1:c.213T>G, XM_011517839.1:c.213T>C, XM_017014576.3:c.213T>G, XM_017014576.3:c.213T>C, XM_017014576.2:c.213T>G, XM_017014576.2:c.213T>C, XM_017014576.1:c.213T>G, XM_017014576.1:c.213T>C, XM_024447483.2:c.213T>G, XM_024447483.2:c.213T>C, XM_024447483.1:c.213T>G, XM_024447483.1:c.213T>C, NM_001331100.2:c.213T>G, NM_001331100.2:c.213T>C, NM_001331100.1:c.213T>G, NM_001331100.1:c.213T>C, XM_024447479.2:c.213T>G, XM_024447479.2:c.213T>C, XM_024447479.1:c.213T>G, XM_024447479.1:c.213T>C, XM_024447480.2:c.213T>G, XM_024447480.2:c.213T>C, XM_024447480.1:c.213T>G, XM_024447480.1:c.213T>C, XM_024447481.2:c.213T>G, XM_024447481.2:c.213T>C, XM_024447481.1:c.213T>G, XM_024447481.1:c.213T>C, XM_024447482.2:c.213T>G, XM_024447482.2:c.213T>C, XM_024447482.1:c.213T>G, XM_024447482.1:c.213T>C

Select item 147932452220.

rs1479324522 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:38610275 (GRCh38)
9:38610272 (GRCh37)
Canonical SPDI:: NC_000009.12:38610274:T:C
Gene:: ANKRD18A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.38610275T>C, NC_000009.11:g.38610272T>C, NM_147195.4:c.738A>G, NM_147195.3:c.738A>G, NM_147195.2:c.738A>G, XM_011517839.4:c.738A>G, XM_011517839.3:c.738A>G, XM_011517839.2:c.738A>G, XM_011517839.1:c.738A>G, XM_017014576.3:c.738A>G, XM_017014576.2:c.738A>G, XM_017014576.1:c.738A>G, XM_024447483.2:c.738A>G, XM_024447483.1:c.738A>G, NM_001331100.2:c.738A>G, NM_001331100.1:c.738A>G, XM_024447479.2:c.738A>G, XM_024447479.1:c.738A>G, XM_024447480.2:c.738A>G, XM_024447480.1:c.738A>G, XM_024447481.2:c.738A>G, XM_024447481.1:c.738A>G, XM_024447482.2:c.738A>G, XM_024447482.1:c.738A>G

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