SNP Links for Protein (Select 48762709) - SNP

Select item 14869757611.

rs1486975761 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 21:14546224 (GRCh38)
21:15918545 (GRCh37)
Canonical SPDI:: NC_000021.9:14546223:T:G
Gene:: SAMSN1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
G=0.00003/8 (TOPMED)
HGVS:: NC_000021.9:g.14546224T>G, NC_000021.8:g.15918545T>G, NM_022136.5:c.38A>C, NM_022136.4:c.38A>C, XM_011529684.3:c.-72A>C, XM_011529684.2:c.-72A>C, XM_011529684.1:c.-72A>C, XM_011529686.2:c.38A>C, XM_011529686.1:c.38A>C, NM_001286523.2:c.-294A>C, NM_001286523.1:c.-294A>C, XM_047440942.1:c.-72A>C, XM_011529685.1:c.38A>C, NP_071419.3:p.Glu13Ala, XP_011527988.1:p.Glu13Ala, XP_011527987.1:p.Glu13Ala

Select item 14856857182.

rs1485685718 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 21:14510446 (GRCh38)
21:15882767 (GRCh37)
Canonical SPDI:: NC_000021.9:14510445:C:G
Gene:: SAMSN1 (Varview), LOC124905053 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000026/7 (TOPMED)
HGVS:: NC_000021.9:g.14510446C>G, NC_000021.8:g.15882767C>G, NM_022136.5:c.425G>C, NM_022136.4:c.425G>C, XM_011529684.3:c.371G>C, XM_011529684.2:c.371G>C, XM_011529684.1:c.371G>C, XM_011529686.2:c.425G>C, XM_011529686.1:c.425G>C, NM_001256370.2:c.629G>C, NM_001256370.1:c.629G>C, NM_001286523.2:c.218G>C, NM_001286523.1:c.218G>C, NM_001395858.1:c.1409G>C, NM_001395857.1:c.1313G>C, XM_047440942.1:c.221G>C, XM_011529685.1:c.275G>C, NP_071419.3:p.Cys142Ser, XP_011527986.1:p.Cys124Ser, XP_011527988.1:p.Cys142Ser, NP_001243299.1:p.Cys210Ser, NP_001273452.1:p.Cys73Ser, NP_001382787.1:p.Cys470Ser, NP_001382786.1:p.Cys438Ser, XP_047296898.1:p.Cys74Ser, XP_011527987.1:p.Cys92Ser

Select item 14825623423.

rs1482562342 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:14510461 (GRCh38)
21:15882782 (GRCh37)
Canonical SPDI:: NC_000021.9:14510460:C:T
Gene:: SAMSN1 (Varview), LOC124905053 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000021.9:g.14510461C>T, NC_000021.8:g.15882782C>T, NM_022136.5:c.410G>A, NM_022136.4:c.410G>A, XM_011529684.3:c.356G>A, XM_011529684.2:c.356G>A, XM_011529684.1:c.356G>A, XM_011529686.2:c.410G>A, XM_011529686.1:c.410G>A, NM_001256370.2:c.614G>A, NM_001256370.1:c.614G>A, NM_001286523.2:c.203G>A, NM_001286523.1:c.203G>A, NM_001395858.1:c.1394G>A, NM_001395857.1:c.1298G>A, XM_047440942.1:c.206G>A, XM_011529685.1:c.260G>A, NP_071419.3:p.Ser137Asn, XP_011527986.1:p.Ser119Asn, XP_011527988.1:p.Ser137Asn, NP_001243299.1:p.Ser205Asn, NP_001273452.1:p.Ser68Asn, NP_001382787.1:p.Ser465Asn, NP_001382786.1:p.Ser433Asn, XP_047296898.1:p.Ser69Asn, XP_011527987.1:p.Ser87Asn

Select item 14800641734.

rs1480064173 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 21:14510379 (GRCh38)
21:15882700 (GRCh37)
Canonical SPDI:: NC_000021.9:14510378:G:A,NC_000021.9:14510378:G:C
Gene:: SAMSN1 (Varview), LOC124905053 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000021.9:g.14510379G>A, NC_000021.9:g.14510379G>C, NC_000021.8:g.15882700G>A, NC_000021.8:g.15882700G>C, NM_022136.5:c.492C>T, NM_022136.5:c.492C>G, NM_022136.4:c.492C>T, NM_022136.4:c.492C>G, XM_011529684.3:c.438C>T, XM_011529684.3:c.438C>G, XM_011529684.2:c.438C>T, XM_011529684.2:c.438C>G, XM_011529684.1:c.438C>T, XM_011529684.1:c.438C>G, XM_011529686.2:c.492C>T, XM_011529686.2:c.492C>G, XM_011529686.1:c.492C>T, XM_011529686.1:c.492C>G, NM_001256370.2:c.696C>T, NM_001256370.2:c.696C>G, NM_001256370.1:c.696C>T, NM_001256370.1:c.696C>G, NM_001286523.2:c.285C>T, NM_001286523.2:c.285C>G, NM_001286523.1:c.285C>T, NM_001286523.1:c.285C>G, NM_001395858.1:c.1476C>T, NM_001395858.1:c.1476C>G, NM_001395857.1:c.1380C>T, NM_001395857.1:c.1380C>G, XM_047440942.1:c.288C>T, XM_047440942.1:c.288C>G, XM_011529685.1:c.342C>T, XM_011529685.1:c.342C>G, NP_071419.3:p.Phe164Leu, XP_011527986.1:p.Phe146Leu, XP_011527988.1:p.Phe164Leu, NP_001243299.1:p.Phe232Leu, NP_001273452.1:p.Phe95Leu, NP_001382787.1:p.Phe492Leu, NP_001382786.1:p.Phe460Leu, XP_047296898.1:p.Phe96Leu, XP_011527987.1:p.Phe114Leu

Select item 14794031795.

rs1479403179 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 21:14485947 (GRCh38)
21:15858268 (GRCh37)
Canonical SPDI:: NC_000021.9:14485946:C:A
Gene:: SAMSN1 (Varview), LOC124905053 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.14485947C>A, NC_000021.8:g.15858268C>A, NM_022136.5:c.1087G>T, NM_022136.4:c.1087G>T, XM_011529684.3:c.1033G>T, XM_011529684.2:c.1033G>T, XM_011529684.1:c.1033G>T, NM_001256370.2:c.1291G>T, NM_001256370.1:c.1291G>T, NM_001286523.2:c.880G>T, NM_001286523.1:c.880G>T, NM_001395858.1:c.2071G>T, NM_001395857.1:c.1975G>T, XM_047440942.1:c.883G>T, XM_011529685.1:c.937G>T, NP_071419.3:p.Val363Leu, XP_011527986.1:p.Val345Leu, NP_001243299.1:p.Val431Leu, NP_001273452.1:p.Val294Leu, NP_001382787.1:p.Val691Leu, NP_001382786.1:p.Val659Leu, XP_047296898.1:p.Val295Leu, XP_011527987.1:p.Val313Leu

Select item 14784152286.

rs1478415228 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 21:14498564 (GRCh38)
21:15870885 (GRCh37)
Canonical SPDI:: NC_000021.9:14498563:C:G
Gene:: SAMSN1 (Varview), LOC124905053 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.14498564C>G, NC_000021.8:g.15870885C>G, NM_022136.5:c.797G>C, NM_022136.4:c.797G>C, XM_011529684.3:c.743G>C, XM_011529684.2:c.743G>C, XM_011529684.1:c.743G>C, XM_011529686.2:c.797G>C, XM_011529686.1:c.797G>C, NM_001256370.2:c.1001G>C, NM_001256370.1:c.1001G>C, NM_001286523.2:c.590G>C, NM_001286523.1:c.590G>C, NM_001395858.1:c.1781G>C, NM_001395857.1:c.1685G>C, XM_047440942.1:c.593G>C, XM_011529685.1:c.647G>C, NP_071419.3:p.Gly266Ala, XP_011527986.1:p.Gly248Ala, XP_011527988.1:p.Gly266Ala, NP_001243299.1:p.Gly334Ala, NP_001273452.1:p.Gly197Ala, NP_001382787.1:p.Gly594Ala, NP_001382786.1:p.Gly562Ala, XP_047296898.1:p.Gly198Ala, XP_011527987.1:p.Gly216Ala

Select item 14768840797.

rs1476884079 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 21:14516992 (GRCh38)
21:15889313 (GRCh37)
Canonical SPDI:: NC_000021.9:14516991:G:C
Gene:: SAMSN1 (Varview), LOC124905053 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,stop_gained,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.14516992G>C, NC_000021.8:g.15889313G>C, NM_022136.5:c.179C>G, NM_022136.4:c.179C>G, XM_011529684.3:c.125C>G, XM_011529684.2:c.125C>G, XM_011529684.1:c.125C>G, XM_011529686.2:c.179C>G, XM_011529686.1:c.179C>G, NM_001256370.2:c.383C>G, NM_001256370.1:c.383C>G, NM_001286523.2:c.-29C>G, NM_001286523.1:c.-29C>G, NM_001395858.1:c.1163C>G, NM_001395857.1:c.1067C>G, NP_071419.3:p.Ser60Ter, XP_011527986.1:p.Ser42Ter, XP_011527988.1:p.Ser60Ter, NP_001243299.1:p.Ser128Ter, NP_001382787.1:p.Ser388Ter, NP_001382786.1:p.Ser356Ter

Select item 14726992128.

rs1472699212 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:14500551 (GRCh38)
21:15872872 (GRCh37)
Canonical SPDI:: NC_000021.9:14500550:A:G
Gene:: SAMSN1 (Varview), LOC124905053 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_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_000021.9:g.14500551A>G, NC_000021.8:g.15872872A>G, NM_022136.5:c.746T>C, NM_022136.4:c.746T>C, XM_011529684.3:c.692T>C, XM_011529684.2:c.692T>C, XM_011529684.1:c.692T>C, XM_011529686.2:c.746T>C, XM_011529686.1:c.746T>C, NM_001256370.2:c.950T>C, NM_001256370.1:c.950T>C, NM_001286523.2:c.539T>C, NM_001286523.1:c.539T>C, NM_001395858.1:c.1730T>C, NM_001395857.1:c.1634T>C, XM_047440942.1:c.542T>C, XM_011529685.1:c.596T>C, NP_071419.3:p.Phe249Ser, XP_011527986.1:p.Phe231Ser, XP_011527988.1:p.Phe249Ser, NP_001243299.1:p.Phe317Ser, NP_001273452.1:p.Phe180Ser, NP_001382787.1:p.Phe577Ser, NP_001382786.1:p.Phe545Ser, XP_047296898.1:p.Phe181Ser, XP_011527987.1:p.Phe199Ser

Select item 14721251129.

rs1472125112 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:14521213 (GRCh38)
21:15893534 (GRCh37)
Canonical SPDI:: NC_000021.9:14521212:G:A
Gene:: SAMSN1 (Varview), LOC124905053 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.14521213G>A, NC_000021.8:g.15893534G>A, NM_022136.5:c.66C>T, NM_022136.4:c.66C>T, XM_011529684.3:c.12C>T, XM_011529684.2:c.12C>T, XM_011529684.1:c.12C>T, XM_011529686.2:c.66C>T, XM_011529686.1:c.66C>T, NM_001256370.2:c.270C>T, NM_001256370.1:c.270C>T, NM_001286523.2:c.-142C>T, NM_001286523.1:c.-142C>T, NM_001395858.1:c.1050C>T, NM_001395857.1:c.954C>T, XM_047440942.1:c.12C>T, XM_011529685.1:c.66C>T

Select item 147135377510.

rs1471353775 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:14516986 (GRCh38)
21:15889307 (GRCh37)
Canonical SPDI:: NC_000021.9:14516985:T:C
Gene:: SAMSN1 (Varview), LOC124905053 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.14516986T>C, NC_000021.8:g.15889307T>C, NM_022136.5:c.185A>G, NM_022136.4:c.185A>G, XM_011529684.3:c.131A>G, XM_011529684.2:c.131A>G, XM_011529684.1:c.131A>G, XM_011529686.2:c.185A>G, XM_011529686.1:c.185A>G, NM_001256370.2:c.389A>G, NM_001256370.1:c.389A>G, NM_001286523.2:c.-23A>G, NM_001286523.1:c.-23A>G, NM_001395858.1:c.1169A>G, NM_001395857.1:c.1073A>G, NP_071419.3:p.Asn62Ser, XP_011527986.1:p.Asn44Ser, XP_011527988.1:p.Asn62Ser, NP_001243299.1:p.Asn130Ser, NP_001382787.1:p.Asn390Ser, NP_001382786.1:p.Asn358Ser

Select item 146978616811.

rs1469786168 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 21:14486024 (GRCh38)
21:15858345 (GRCh37)
Canonical SPDI:: NC_000021.9:14486023:T:C,NC_000021.9:14486023:T:G
Gene:: SAMSN1 (Varview), LOC124905053 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000021.9:g.14486024T>C, NC_000021.9:g.14486024T>G, NC_000021.8:g.15858345T>C, NC_000021.8:g.15858345T>G, NM_022136.5:c.1010A>G, NM_022136.5:c.1010A>C, NM_022136.4:c.1010A>G, NM_022136.4:c.1010A>C, XM_011529684.3:c.956A>G, XM_011529684.3:c.956A>C, XM_011529684.2:c.956A>G, XM_011529684.2:c.956A>C, XM_011529684.1:c.956A>G, XM_011529684.1:c.956A>C, NM_001256370.2:c.1214A>G, NM_001256370.2:c.1214A>C, NM_001256370.1:c.1214A>G, NM_001256370.1:c.1214A>C, NM_001286523.2:c.803A>G, NM_001286523.2:c.803A>C, NM_001286523.1:c.803A>G, NM_001286523.1:c.803A>C, NM_001395858.1:c.1994A>G, NM_001395858.1:c.1994A>C, NM_001395857.1:c.1898A>G, NM_001395857.1:c.1898A>C, XM_047440942.1:c.806A>G, XM_047440942.1:c.806A>C, XM_011529685.1:c.860A>G, XM_011529685.1:c.860A>C, NP_071419.3:p.Asp337Gly, NP_071419.3:p.Asp337Ala, XP_011527986.1:p.Asp319Gly, XP_011527986.1:p.Asp319Ala, NP_001243299.1:p.Asp405Gly, NP_001243299.1:p.Asp405Ala, NP_001273452.1:p.Asp268Gly, NP_001273452.1:p.Asp268Ala, NP_001382787.1:p.Asp665Gly, NP_001382787.1:p.Asp665Ala, NP_001382786.1:p.Asp633Gly, NP_001382786.1:p.Asp633Ala, XP_047296898.1:p.Asp269Gly, XP_047296898.1:p.Asp269Ala, XP_011527987.1:p.Asp287Gly, XP_011527987.1:p.Asp287Ala

Select item 146926189612.

rs1469261896 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 21:14500666 (GRCh38)
21:15872987 (GRCh37)
Canonical SPDI:: NC_000021.9:14500665:C:A,NC_000021.9:14500665:C:T
Gene:: SAMSN1 (Varview), LOC124905053 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000021.9:g.14500666C>A, NC_000021.9:g.14500666C>T, NC_000021.8:g.15872987C>A, NC_000021.8:g.15872987C>T, NM_022136.5:c.631G>T, NM_022136.5:c.631G>A, NM_022136.4:c.631G>T, NM_022136.4:c.631G>A, XM_011529684.3:c.577G>T, XM_011529684.3:c.577G>A, XM_011529684.2:c.577G>T, XM_011529684.2:c.577G>A, XM_011529684.1:c.577G>T, XM_011529684.1:c.577G>A, XM_011529686.2:c.631G>T, XM_011529686.2:c.631G>A, XM_011529686.1:c.631G>T, XM_011529686.1:c.631G>A, NM_001256370.2:c.835G>T, NM_001256370.2:c.835G>A, NM_001256370.1:c.835G>T, NM_001256370.1:c.835G>A, NM_001286523.2:c.424G>T, NM_001286523.2:c.424G>A, NM_001286523.1:c.424G>T, NM_001286523.1:c.424G>A, NM_001395858.1:c.1615G>T, NM_001395858.1:c.1615G>A, NM_001395857.1:c.1519G>T, NM_001395857.1:c.1519G>A, XM_047440942.1:c.427G>T, XM_047440942.1:c.427G>A, XM_011529685.1:c.481G>T, XM_011529685.1:c.481G>A, NP_071419.3:p.Val211Leu, NP_071419.3:p.Val211Met, XP_011527986.1:p.Val193Leu, XP_011527986.1:p.Val193Met, XP_011527988.1:p.Val211Leu, XP_011527988.1:p.Val211Met, NP_001243299.1:p.Val279Leu, NP_001243299.1:p.Val279Met, NP_001273452.1:p.Val142Leu, NP_001273452.1:p.Val142Met, NP_001382787.1:p.Val539Leu, NP_001382787.1:p.Val539Met, NP_001382786.1:p.Val507Leu, NP_001382786.1:p.Val507Met, XP_047296898.1:p.Val143Leu, XP_047296898.1:p.Val143Met, XP_011527987.1:p.Val161Leu, XP_011527987.1:p.Val161Met

Select item 146734503813.

rs1467345038 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:14500667 (GRCh38)
21:15872988 (GRCh37)
Canonical SPDI:: NC_000021.9:14500666:T:C
Gene:: SAMSN1 (Varview), LOC124905053 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.14500667T>C, NC_000021.8:g.15872988T>C, NM_022136.5:c.630A>G, NM_022136.4:c.630A>G, XM_011529684.3:c.576A>G, XM_011529684.2:c.576A>G, XM_011529684.1:c.576A>G, XM_011529686.2:c.630A>G, XM_011529686.1:c.630A>G, NM_001256370.2:c.834A>G, NM_001256370.1:c.834A>G, NM_001286523.2:c.423A>G, NM_001286523.1:c.423A>G, NM_001395858.1:c.1614A>G, NM_001395857.1:c.1518A>G, XM_047440942.1:c.426A>G, XM_011529685.1:c.480A>G

Select item 146120888214.

rs1461208882 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:14512485 (GRCh38)
21:15884806 (GRCh37)
Canonical SPDI:: NC_000021.9:14512484:C:T
Gene:: SAMSN1 (Varview), LOC124905053 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000021.9:g.14512485C>T, NC_000021.8:g.15884806C>T, NM_022136.5:c.368G>A, NM_022136.4:c.368G>A, XM_011529684.3:c.314G>A, XM_011529684.2:c.314G>A, XM_011529684.1:c.314G>A, XM_011529686.2:c.368G>A, XM_011529686.1:c.368G>A, NM_001256370.2:c.572G>A, NM_001256370.1:c.572G>A, NM_001286523.2:c.161G>A, NM_001286523.1:c.161G>A, NM_001395858.1:c.1352G>A, NM_001395857.1:c.1256G>A, XM_047440942.1:c.164G>A, XM_011529685.1:c.218G>A, NP_071419.3:p.Ser123Asn, XP_011527986.1:p.Ser105Asn, XP_011527988.1:p.Ser123Asn, NP_001243299.1:p.Ser191Asn, NP_001273452.1:p.Ser54Asn, NP_001382787.1:p.Ser451Asn, NP_001382786.1:p.Ser419Asn, XP_047296898.1:p.Ser55Asn, XP_011527987.1:p.Ser73Asn

Select item 145760379915.

rs1457603799 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 21:14500639 (GRCh38)
21:15872960 (GRCh37)
Canonical SPDI:: NC_000021.9:14500638:C:A
Gene:: SAMSN1 (Varview), LOC124905053 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000071/1 (TOMMO)
HGVS:: NC_000021.9:g.14500639C>A, NC_000021.8:g.15872960C>A, NM_022136.5:c.658G>T, NM_022136.4:c.658G>T, XM_011529684.3:c.604G>T, XM_011529684.2:c.604G>T, XM_011529684.1:c.604G>T, XM_011529686.2:c.658G>T, XM_011529686.1:c.658G>T, NM_001256370.2:c.862G>T, NM_001256370.1:c.862G>T, NM_001286523.2:c.451G>T, NM_001286523.1:c.451G>T, NM_001395858.1:c.1642G>T, NM_001395857.1:c.1546G>T, XM_047440942.1:c.454G>T, XM_011529685.1:c.508G>T, NP_071419.3:p.Asp220Tyr, XP_011527986.1:p.Asp202Tyr, XP_011527988.1:p.Asp220Tyr, NP_001243299.1:p.Asp288Tyr, NP_001273452.1:p.Asp151Tyr, NP_001382787.1:p.Asp548Tyr, NP_001382786.1:p.Asp516Tyr, XP_047296898.1:p.Asp152Tyr, XP_011527987.1:p.Asp170Tyr

Select item 145745752916.

rs1457457529 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 21:14510437 (GRCh38)
21:15882758 (GRCh37)
Canonical SPDI:: NC_000021.9:14510436:C:A
Gene:: SAMSN1 (Varview), LOC124905053 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.14510437C>A, NC_000021.8:g.15882758C>A, NM_022136.5:c.434G>T, NM_022136.4:c.434G>T, XM_011529684.3:c.380G>T, XM_011529684.2:c.380G>T, XM_011529684.1:c.380G>T, XM_011529686.2:c.434G>T, XM_011529686.1:c.434G>T, NM_001256370.2:c.638G>T, NM_001256370.1:c.638G>T, NM_001286523.2:c.227G>T, NM_001286523.1:c.227G>T, NM_001395858.1:c.1418G>T, NM_001395857.1:c.1322G>T, XM_047440942.1:c.230G>T, XM_011529685.1:c.284G>T, NP_071419.3:p.Gly145Val, XP_011527986.1:p.Gly127Val, XP_011527988.1:p.Gly145Val, NP_001243299.1:p.Gly213Val, NP_001273452.1:p.Gly76Val, NP_001382787.1:p.Gly473Val, NP_001382786.1:p.Gly441Val, XP_047296898.1:p.Gly77Val, XP_011527987.1:p.Gly95Val

Select item 145157957317.

rs1451579573 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 21:14498516 (GRCh38)
21:15870837 (GRCh37)
Canonical SPDI:: NC_000021.9:14498515:A:T
Gene:: SAMSN1 (Varview), LOC124905053 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000021.9:g.14498516A>T, NC_000021.8:g.15870837A>T, NM_022136.5:c.845T>A, NM_022136.4:c.845T>A, XM_011529684.3:c.791T>A, XM_011529684.2:c.791T>A, XM_011529684.1:c.791T>A, XM_011529686.2:c.845T>A, XM_011529686.1:c.845T>A, NM_001256370.2:c.1049T>A, NM_001256370.1:c.1049T>A, NM_001286523.2:c.638T>A, NM_001286523.1:c.638T>A, NM_001395858.1:c.1829T>A, NM_001395857.1:c.1733T>A, XM_047440942.1:c.641T>A, XM_011529685.1:c.695T>A, NP_071419.3:p.Ile282Asn, XP_011527986.1:p.Ile264Asn, XP_011527988.1:p.Ile282Asn, NP_001243299.1:p.Ile350Asn, NP_001273452.1:p.Ile213Asn, NP_001382787.1:p.Ile610Asn, NP_001382786.1:p.Ile578Asn, XP_047296898.1:p.Ile214Asn, XP_011527987.1:p.Ile232Asn

Select item 145132647618.

rs1451326476 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:14498506 (GRCh38)
21:15870827 (GRCh37)
Canonical SPDI:: NC_000021.9:14498505:A:G
Gene:: SAMSN1 (Varview), LOC124905053 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,intron_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_000021.9:g.14498506A>G, NC_000021.8:g.15870827A>G, NM_022136.5:c.855T>C, NM_022136.4:c.855T>C, XM_011529684.3:c.801T>C, XM_011529684.2:c.801T>C, XM_011529684.1:c.801T>C, XM_011529686.2:c.855T>C, XM_011529686.1:c.855T>C, NM_001256370.2:c.1059T>C, NM_001256370.1:c.1059T>C, NM_001286523.2:c.648T>C, NM_001286523.1:c.648T>C, NM_001395858.1:c.1839T>C, NM_001395857.1:c.1743T>C, XM_047440942.1:c.651T>C, XM_011529685.1:c.705T>C

Select item 144700977919.

rs1447009779 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:14521175 (GRCh38)
21:15893496 (GRCh37)
Canonical SPDI:: NC_000021.9:14521174:A:G
Gene:: SAMSN1 (Varview), LOC124905053 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000546/1 (Korea1K)
HGVS:: NC_000021.9:g.14521175A>G, NC_000021.8:g.15893496A>G, NM_022136.5:c.104T>C, NM_022136.4:c.104T>C, XM_011529684.3:c.50T>C, XM_011529684.2:c.50T>C, XM_011529684.1:c.50T>C, XM_011529686.2:c.104T>C, XM_011529686.1:c.104T>C, NM_001256370.2:c.308T>C, NM_001256370.1:c.308T>C, NM_001286523.2:c.-104T>C, NM_001286523.1:c.-104T>C, NM_001395858.1:c.1088T>C, NM_001395857.1:c.992T>C, XM_047440942.1:c.50T>C, XM_011529685.1:c.104T>C, NP_071419.3:p.Leu35Ser, XP_011527986.1:p.Leu17Ser, XP_011527988.1:p.Leu35Ser, NP_001243299.1:p.Leu103Ser, NP_001382787.1:p.Leu363Ser, NP_001382786.1:p.Leu331Ser, XP_047296898.1:p.Leu17Ser, XP_011527987.1:p.Leu35Ser

Select item 144270145320.

rs1442701453 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:14521172 (GRCh38)
21:15893493 (GRCh37)
Canonical SPDI:: NC_000021.9:14521171:G:A
Gene:: SAMSN1 (Varview), LOC124905053 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000021.9:g.14521172G>A, NC_000021.8:g.15893493G>A, NM_022136.5:c.107C>T, NM_022136.4:c.107C>T, XM_011529684.3:c.53C>T, XM_011529684.2:c.53C>T, XM_011529684.1:c.53C>T, XM_011529686.2:c.107C>T, XM_011529686.1:c.107C>T, NM_001256370.2:c.311C>T, NM_001256370.1:c.311C>T, NM_001286523.2:c.-101C>T, NM_001286523.1:c.-101C>T, NM_001395858.1:c.1091C>T, NM_001395857.1:c.995C>T, XM_047440942.1:c.53C>T, XM_011529685.1:c.107C>T, NP_071419.3:p.Ser36Leu, XP_011527986.1:p.Ser18Leu, XP_011527988.1:p.Ser36Leu, NP_001243299.1:p.Ser104Leu, NP_001382787.1:p.Ser364Leu, NP_001382786.1:p.Ser332Leu, XP_047296898.1:p.Ser18Leu, XP_011527987.1:p.Ser36Leu

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Result Filters

Validation Status

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Annotation

Global MAF

Custom range

Additional filters

Display Settings:

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Items: 1 to 20 of 374

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