SNP Links for Protein (Select 1018443164) - SNP

Select item 14716339681.

rs1471633968 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:175526648 (GRCh38)
5:174953651 (GRCh37)
Canonical SPDI:: NC_000005.10:175526647:G:C
Gene:: SFXN1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000005.10:g.175526648G>C, NC_000005.9:g.174953651G>C, NM_022754.7:c.883G>C, NM_022754.6:c.883G>C, NM_022754.5:c.883G>C, NM_001322977.2:c.883G>C, NM_001322977.1:c.883G>C, NM_001322982.2:c.700G>C, NM_001322982.1:c.700G>C, NM_001322978.2:c.700G>C, NM_001322978.1:c.700G>C, NM_001322981.2:c.755G>C, NM_001322981.1:c.755G>C, NM_001322980.2:c.755G>C, NM_001322980.1:c.755G>C, NP_073591.2:p.Val295Leu, NP_001309906.1:p.Val295Leu, NP_001309911.1:p.Val234Leu, NP_001309907.1:p.Val234Leu, NP_001309910.1:p.Cys252Ser, NP_001309909.1:p.Cys252Ser

Select item 14708857672.

rs1470885767 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 5:175512124 (GRCh38)
5:174939127 (GRCh37)
Canonical SPDI:: NC_000005.10:175512123:T:C,NC_000005.10:175512123:T:G
Gene:: SFXN1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.175512124T>C, NC_000005.10:g.175512124T>G, NC_000005.9:g.174939127T>C, NC_000005.9:g.174939127T>G, NM_022754.7:c.524T>C, NM_022754.7:c.524T>G, NM_022754.6:c.524T>C, NM_022754.6:c.524T>G, NM_022754.5:c.524T>C, NM_022754.5:c.524T>G, NM_001322977.2:c.524T>C, NM_001322977.2:c.524T>G, NM_001322977.1:c.524T>C, NM_001322977.1:c.524T>G, NM_001322982.2:c.341T>C, NM_001322982.2:c.341T>G, NM_001322982.1:c.341T>C, NM_001322982.1:c.341T>G, NM_001322978.2:c.341T>C, NM_001322978.2:c.341T>G, NM_001322978.1:c.341T>C, NM_001322978.1:c.341T>G, NM_001322981.2:c.524T>C, NM_001322981.2:c.524T>G, NM_001322981.1:c.524T>C, NM_001322981.1:c.524T>G, NM_001322980.2:c.524T>C, NM_001322980.2:c.524T>G, NM_001322980.1:c.524T>C, NM_001322980.1:c.524T>G, NM_001322983.2:c.524T>C, NM_001322983.2:c.524T>G, NM_001322983.1:c.524T>C, NM_001322983.1:c.524T>G, NP_073591.2:p.Leu175Pro, NP_073591.2:p.Leu175Arg, NP_001309906.1:p.Leu175Pro, NP_001309906.1:p.Leu175Arg, NP_001309911.1:p.Leu114Pro, NP_001309911.1:p.Leu114Arg, NP_001309907.1:p.Leu114Pro, NP_001309907.1:p.Leu114Arg, NP_001309910.1:p.Leu175Pro, NP_001309910.1:p.Leu175Arg, NP_001309909.1:p.Leu175Pro, NP_001309909.1:p.Leu175Arg, NP_001309912.1:p.Leu175Pro, NP_001309912.1:p.Leu175Arg

Select item 14695918273.

rs1469591827 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 5:175513531 (GRCh38)
5:174940534 (GRCh37)
Canonical SPDI:: NC_000005.10:175513530:C:G,NC_000005.10:175513530:C:T
Gene:: SFXN1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000005.10:g.175513531C>G, NC_000005.10:g.175513531C>T, NC_000005.9:g.174940534C>G, NC_000005.9:g.174940534C>T, NM_022754.7:c.665C>G, NM_022754.7:c.665C>T, NM_022754.6:c.665C>G, NM_022754.6:c.665C>T, NM_022754.5:c.665C>G, NM_022754.5:c.665C>T, NM_001322977.2:c.665C>G, NM_001322977.2:c.665C>T, NM_001322977.1:c.665C>G, NM_001322977.1:c.665C>T, NM_001322982.2:c.482C>G, NM_001322982.2:c.482C>T, NM_001322982.1:c.482C>G, NM_001322982.1:c.482C>T, NM_001322978.2:c.482C>G, NM_001322978.2:c.482C>T, NM_001322978.1:c.482C>G, NM_001322978.1:c.482C>T, NM_001322983.2:c.665C>G, NM_001322983.2:c.665C>T, NM_001322983.1:c.665C>G, NM_001322983.1:c.665C>T, NP_073591.2:p.Ala222Gly, NP_073591.2:p.Ala222Val, NP_001309906.1:p.Ala222Gly, NP_001309906.1:p.Ala222Val, NP_001309911.1:p.Ala161Gly, NP_001309911.1:p.Ala161Val, NP_001309907.1:p.Ala161Gly, NP_001309907.1:p.Ala161Val, NP_001309912.1:p.Ala222Gly, NP_001309912.1:p.Ala222Val

Select item 14684973224.

rs1468497322 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:175509122 (GRCh38)
5:174936125 (GRCh37)
Canonical SPDI:: NC_000005.10:175509121:G:A
Gene:: SFXN1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000005.10:g.175509122G>A, NC_000005.9:g.174936125G>A, NM_022754.7:c.255G>A, NM_022754.6:c.255G>A, NM_022754.5:c.255G>A, NM_001322977.2:c.255G>A, NM_001322977.1:c.255G>A, NM_001322982.2:c.72G>A, NM_001322982.1:c.72G>A, NM_001322978.2:c.72G>A, NM_001322978.1:c.72G>A, NM_001322981.2:c.255G>A, NM_001322981.1:c.255G>A, NM_001322980.2:c.255G>A, NM_001322980.1:c.255G>A, NM_001322983.2:c.255G>A, NM_001322983.1:c.255G>A

Select item 14660736905.

rs1466073690 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:175510192 (GRCh38)
5:174937195 (GRCh37)
Canonical SPDI:: NC_000005.10:175510191:C:T
Gene:: SFXN1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.175510192C>T, NC_000005.9:g.174937195C>T, NM_022754.7:c.419C>T, NM_022754.6:c.419C>T, NM_022754.5:c.419C>T, NM_001322977.2:c.419C>T, NM_001322977.1:c.419C>T, NM_001322982.2:c.236C>T, NM_001322982.1:c.236C>T, NM_001322978.2:c.236C>T, NM_001322978.1:c.236C>T, NM_001322981.2:c.419C>T, NM_001322981.1:c.419C>T, NM_001322980.2:c.419C>T, NM_001322980.1:c.419C>T, NM_001322983.2:c.419C>T, NM_001322983.1:c.419C>T, NP_073591.2:p.Ala140Val, NP_001309906.1:p.Ala140Val, NP_001309911.1:p.Ala79Val, NP_001309907.1:p.Ala79Val, NP_001309910.1:p.Ala140Val, NP_001309909.1:p.Ala140Val, NP_001309912.1:p.Ala140Val

Select item 14598704556.

rs1459870455 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:175510172 (GRCh38)
5:174937175 (GRCh37)
Canonical SPDI:: NC_000005.10:175510171:C:T
Gene:: SFXN1 (Varview)
Functional Consequence:: synonymous_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.175510172C>T, NC_000005.9:g.174937175C>T, NM_022754.7:c.399C>T, NM_022754.6:c.399C>T, NM_022754.5:c.399C>T, NM_001322977.2:c.399C>T, NM_001322977.1:c.399C>T, NM_001322982.2:c.216C>T, NM_001322982.1:c.216C>T, NM_001322978.2:c.216C>T, NM_001322978.1:c.216C>T, NM_001322981.2:c.399C>T, NM_001322981.1:c.399C>T, NM_001322980.2:c.399C>T, NM_001322980.1:c.399C>T, NM_001322983.2:c.399C>T, NM_001322983.1:c.399C>T

Select item 14597886707.

rs1459788670 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 5:175513556 (GRCh38)
5:174940559 (GRCh37)
Canonical SPDI:: NC_000005.10:175513555:C:G,NC_000005.10:175513555:C:T
Gene:: SFXN1 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.175513556C>G, NC_000005.10:g.175513556C>T, NC_000005.9:g.174940559C>G, NC_000005.9:g.174940559C>T, NM_022754.7:c.690C>G, NM_022754.7:c.690C>T, NM_022754.6:c.690C>G, NM_022754.6:c.690C>T, NM_022754.5:c.690C>G, NM_022754.5:c.690C>T, NM_001322977.2:c.690C>G, NM_001322977.2:c.690C>T, NM_001322977.1:c.690C>G, NM_001322977.1:c.690C>T, NM_001322982.2:c.507C>G, NM_001322982.2:c.507C>T, NM_001322982.1:c.507C>G, NM_001322982.1:c.507C>T, NM_001322978.2:c.507C>G, NM_001322978.2:c.507C>T, NM_001322978.1:c.507C>G, NM_001322978.1:c.507C>T, NM_001322983.2:c.690C>G, NM_001322983.2:c.690C>T, NM_001322983.1:c.690C>G, NM_001322983.1:c.690C>T

Select item 14589750148.

rs1458975014 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:175511490 (GRCh38)
5:174938493 (GRCh37)
Canonical SPDI:: NC_000005.10:175511489:C:T
Gene:: SFXN1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.175511490C>T, NC_000005.9:g.174938493C>T, NM_022754.7:c.474C>T, NM_022754.6:c.474C>T, NM_022754.5:c.474C>T, NM_001322977.2:c.474C>T, NM_001322977.1:c.474C>T, NM_001322982.2:c.291C>T, NM_001322982.1:c.291C>T, NM_001322978.2:c.291C>T, NM_001322978.1:c.291C>T, NM_001322981.2:c.474C>T, NM_001322981.1:c.474C>T, NM_001322980.2:c.474C>T, NM_001322980.1:c.474C>T, NM_001322983.2:c.474C>T, NM_001322983.1:c.474C>T

Select item 14576702779.

rs1457670277 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 5:175509088 (GRCh38)
5:174936091 (GRCh37)
Canonical SPDI:: NC_000005.10:175509087:T:C,NC_000005.10:175509087:T:G
Gene:: SFXN1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.175509088T>C, NC_000005.10:g.175509088T>G, NC_000005.9:g.174936091T>C, NC_000005.9:g.174936091T>G, NM_022754.7:c.221T>C, NM_022754.7:c.221T>G, NM_022754.6:c.221T>C, NM_022754.6:c.221T>G, NM_022754.5:c.221T>C, NM_022754.5:c.221T>G, NM_001322977.2:c.221T>C, NM_001322977.2:c.221T>G, NM_001322977.1:c.221T>C, NM_001322977.1:c.221T>G, NM_001322982.2:c.38T>C, NM_001322982.2:c.38T>G, NM_001322982.1:c.38T>C, NM_001322982.1:c.38T>G, NM_001322978.2:c.38T>C, NM_001322978.2:c.38T>G, NM_001322978.1:c.38T>C, NM_001322978.1:c.38T>G, NM_001322981.2:c.221T>C, NM_001322981.2:c.221T>G, NM_001322981.1:c.221T>C, NM_001322981.1:c.221T>G, NM_001322980.2:c.221T>C, NM_001322980.2:c.221T>G, NM_001322980.1:c.221T>C, NM_001322980.1:c.221T>G, NM_001322983.2:c.221T>C, NM_001322983.2:c.221T>G, NM_001322983.1:c.221T>C, NM_001322983.1:c.221T>G, NP_073591.2:p.Ile74Thr, NP_073591.2:p.Ile74Ser, NP_001309906.1:p.Ile74Thr, NP_001309906.1:p.Ile74Ser, NP_001309911.1:p.Ile13Thr, NP_001309911.1:p.Ile13Ser, NP_001309907.1:p.Ile13Thr, NP_001309907.1:p.Ile13Ser, NP_001309910.1:p.Ile74Thr, NP_001309910.1:p.Ile74Ser, NP_001309909.1:p.Ile74Thr, NP_001309909.1:p.Ile74Ser, NP_001309912.1:p.Ile74Thr, NP_001309912.1:p.Ile74Ser

Select item 145369960810.

rs1453699608 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 5:175521958 (GRCh38)
5:174948961 (GRCh37)
Canonical SPDI:: NC_000005.10:175521957:G:A,NC_000005.10:175521957:G:T
Gene:: SFXN1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.175521958G>A, NC_000005.10:g.175521958G>T, NC_000005.9:g.174948961G>A, NC_000005.9:g.174948961G>T, NM_022754.7:c.814G>A, NM_022754.7:c.814G>T, NM_022754.6:c.814G>A, NM_022754.6:c.814G>T, NM_022754.5:c.814G>A, NM_022754.5:c.814G>T, NM_001322977.2:c.814G>A, NM_001322977.2:c.814G>T, NM_001322977.1:c.814G>A, NM_001322977.1:c.814G>T, NM_001322982.2:c.631G>A, NM_001322982.2:c.631G>T, NM_001322982.1:c.631G>A, NM_001322982.1:c.631G>T, NM_001322978.2:c.631G>A, NM_001322978.2:c.631G>T, NM_001322978.1:c.631G>A, NM_001322978.1:c.631G>T, NM_001322981.2:c.686G>A, NM_001322981.2:c.686G>T, NM_001322981.1:c.686G>A, NM_001322981.1:c.686G>T, NM_001322980.2:c.686G>A, NM_001322980.2:c.686G>T, NM_001322980.1:c.686G>A, NM_001322980.1:c.686G>T, NP_073591.2:p.Val272Ile, NP_073591.2:p.Val272Phe, NP_001309906.1:p.Val272Ile, NP_001309906.1:p.Val272Phe, NP_001309911.1:p.Val211Ile, NP_001309911.1:p.Val211Phe, NP_001309907.1:p.Val211Ile, NP_001309907.1:p.Val211Phe, NP_001309910.1:p.Ser229Asn, NP_001309910.1:p.Ser229Ile, NP_001309909.1:p.Ser229Asn, NP_001309909.1:p.Ser229Ile

Select item 145291248611.

rs1452912486 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:175509150 (GRCh38)
5:174936153 (GRCh37)
Canonical SPDI:: NC_000005.10:175509149:G:A
Gene:: SFXN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.175509150G>A, NC_000005.9:g.174936153G>A, NM_022754.7:c.283G>A, NM_022754.6:c.283G>A, NM_022754.5:c.283G>A, NM_001322977.2:c.283G>A, NM_001322977.1:c.283G>A, NM_001322982.2:c.100G>A, NM_001322982.1:c.100G>A, NM_001322978.2:c.100G>A, NM_001322978.1:c.100G>A, NM_001322981.2:c.283G>A, NM_001322981.1:c.283G>A, NM_001322980.2:c.283G>A, NM_001322980.1:c.283G>A, NM_001322983.2:c.283G>A, NM_001322983.1:c.283G>A, NP_073591.2:p.Ala95Thr, NP_001309906.1:p.Ala95Thr, NP_001309911.1:p.Ala34Thr, NP_001309907.1:p.Ala34Thr, NP_001309910.1:p.Ala95Thr, NP_001309909.1:p.Ala95Thr, NP_001309912.1:p.Ala95Thr

Select item 145280440012.

rs1452804400 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:175509184 (GRCh38)
5:174936187 (GRCh37)
Canonical SPDI:: NC_000005.10:175509183:G:C
Gene:: SFXN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.175509184G>C, NC_000005.9:g.174936187G>C, NM_022754.7:c.317G>C, NM_022754.6:c.317G>C, NM_022754.5:c.317G>C, NM_001322977.2:c.317G>C, NM_001322977.1:c.317G>C, NM_001322982.2:c.134G>C, NM_001322982.1:c.134G>C, NM_001322978.2:c.134G>C, NM_001322978.1:c.134G>C, NM_001322981.2:c.317G>C, NM_001322981.1:c.317G>C, NM_001322980.2:c.317G>C, NM_001322980.1:c.317G>C, NM_001322983.2:c.317G>C, NM_001322983.1:c.317G>C, NP_073591.2:p.Cys106Ser, NP_001309906.1:p.Cys106Ser, NP_001309911.1:p.Cys45Ser, NP_001309907.1:p.Cys45Ser, NP_001309910.1:p.Cys106Ser, NP_001309909.1:p.Cys106Ser, NP_001309912.1:p.Cys106Ser

Select item 145093198413.

rs1450931984 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:175510152 (GRCh38)
5:174937155 (GRCh37)
Canonical SPDI:: NC_000005.10:175510151:T:C
Gene:: SFXN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.175510152T>C, NC_000005.9:g.174937155T>C, NM_022754.7:c.379T>C, NM_022754.6:c.379T>C, NM_022754.5:c.379T>C, NM_001322977.2:c.379T>C, NM_001322977.1:c.379T>C, NM_001322982.2:c.196T>C, NM_001322982.1:c.196T>C, NM_001322978.2:c.196T>C, NM_001322978.1:c.196T>C, NM_001322981.2:c.379T>C, NM_001322981.1:c.379T>C, NM_001322980.2:c.379T>C, NM_001322980.1:c.379T>C, NM_001322983.2:c.379T>C, NM_001322983.1:c.379T>C, NP_073591.2:p.Phe127Leu, NP_001309906.1:p.Phe127Leu, NP_001309911.1:p.Phe66Leu, NP_001309907.1:p.Phe66Leu, NP_001309910.1:p.Phe127Leu, NP_001309909.1:p.Phe127Leu, NP_001309912.1:p.Phe127Leu

Select item 145007720314.

rs1450077203 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:175513528 (GRCh38)
5:174940531 (GRCh37)
Canonical SPDI:: NC_000005.10:175513527:C:T
Gene:: SFXN1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.175513528C>T, NC_000005.9:g.174940531C>T, NM_022754.7:c.662C>T, NM_022754.6:c.662C>T, NM_022754.5:c.662C>T, NM_001322977.2:c.662C>T, NM_001322977.1:c.662C>T, NM_001322982.2:c.479C>T, NM_001322982.1:c.479C>T, NM_001322978.2:c.479C>T, NM_001322978.1:c.479C>T, NM_001322983.2:c.662C>T, NM_001322983.1:c.662C>T, NP_073591.2:p.Ala221Val, NP_001309906.1:p.Ala221Val, NP_001309911.1:p.Ala160Val, NP_001309907.1:p.Ala160Val, NP_001309912.1:p.Ala221Val

Select item 144871342515.

rs1448713425 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:175513579 (GRCh38)
5:174940582 (GRCh37)
Canonical SPDI:: NC_000005.10:175513578:C:G
Gene:: SFXN1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.175513579C>G, NC_000005.9:g.174940582C>G, NM_022754.7:c.713C>G, NM_022754.6:c.713C>G, NM_022754.5:c.713C>G, NM_001322977.2:c.713C>G, NM_001322977.1:c.713C>G, NM_001322982.2:c.530C>G, NM_001322982.1:c.530C>G, NM_001322978.2:c.530C>G, NM_001322978.1:c.530C>G, NM_001322983.2:c.713C>G, NM_001322983.1:c.713C>G, NP_073591.2:p.Ala238Gly, NP_001309906.1:p.Ala238Gly, NP_001309911.1:p.Ala177Gly, NP_001309907.1:p.Ala177Gly, NP_001309912.1:p.Ala238Gly

Select item 144750974416.

rs1447509744 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:175516658 (GRCh38)
5:174943661 (GRCh37)
Canonical SPDI:: NC_000005.10:175516657:T:C
Gene:: SFXN1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000035/1 (TOMMO)
HGVS:: NC_000005.10:g.175516658T>C, NC_000005.9:g.174943661T>C, NM_022754.7:c.769T>C, NM_022754.6:c.769T>C, NM_022754.5:c.769T>C, NM_001322977.2:c.769T>C, NM_001322977.1:c.769T>C, NM_001322982.2:c.586T>C, NM_001322982.1:c.586T>C, NM_001322978.2:c.586T>C, NM_001322978.1:c.586T>C, NM_001322981.2:c.641T>C, NM_001322981.1:c.641T>C, NM_001322980.2:c.641T>C, NM_001322980.1:c.641T>C, NP_001309910.1:p.Phe214Ser, NP_001309909.1:p.Phe214Ser

Select item 143979174817.

rs1439791748 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:175521950 (GRCh38)
5:174948953 (GRCh37)
Canonical SPDI:: NC_000005.10:175521949:T:C
Gene:: SFXN1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.175521950T>C, NC_000005.9:g.174948953T>C, NM_022754.7:c.806T>C, NM_022754.6:c.806T>C, NM_022754.5:c.806T>C, NM_001322977.2:c.806T>C, NM_001322977.1:c.806T>C, NM_001322982.2:c.623T>C, NM_001322982.1:c.623T>C, NM_001322978.2:c.623T>C, NM_001322978.1:c.623T>C, NM_001322981.2:c.678T>C, NM_001322981.1:c.678T>C, NM_001322980.2:c.678T>C, NM_001322980.1:c.678T>C, NP_073591.2:p.Val269Ala, NP_001309906.1:p.Val269Ala, NP_001309911.1:p.Val208Ala, NP_001309907.1:p.Val208Ala

Select item 143554247818.

rs1435542478 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 5:175512138 (GRCh38)
5:174939141 (GRCh37)
Canonical SPDI:: NC_000005.10:175512137:G:A,NC_000005.10:175512137:G:C,NC_000005.10:175512137:G:T
Gene:: SFXN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.175512138G>A, NC_000005.10:g.175512138G>C, NC_000005.10:g.175512138G>T, NC_000005.9:g.174939141G>A, NC_000005.9:g.174939141G>C, NC_000005.9:g.174939141G>T, NM_022754.7:c.538G>A, NM_022754.7:c.538G>C, NM_022754.7:c.538G>T, NM_022754.6:c.538G>A, NM_022754.6:c.538G>C, NM_022754.6:c.538G>T, NM_022754.5:c.538G>A, NM_022754.5:c.538G>C, NM_022754.5:c.538G>T, NM_001322977.2:c.538G>A, NM_001322977.2:c.538G>C, NM_001322977.2:c.538G>T, NM_001322977.1:c.538G>A, NM_001322977.1:c.538G>C, NM_001322977.1:c.538G>T, NM_001322982.2:c.355G>A, NM_001322982.2:c.355G>C, NM_001322982.2:c.355G>T, NM_001322982.1:c.355G>A, NM_001322982.1:c.355G>C, NM_001322982.1:c.355G>T, NM_001322978.2:c.355G>A, NM_001322978.2:c.355G>C, NM_001322978.2:c.355G>T, NM_001322978.1:c.355G>A, NM_001322978.1:c.355G>C, NM_001322978.1:c.355G>T, NM_001322981.2:c.538G>A, NM_001322981.2:c.538G>C, NM_001322981.2:c.538G>T, NM_001322981.1:c.538G>A, NM_001322981.1:c.538G>C, NM_001322981.1:c.538G>T, NM_001322980.2:c.538G>A, NM_001322980.2:c.538G>C, NM_001322980.2:c.538G>T, NM_001322980.1:c.538G>A, NM_001322980.1:c.538G>C, NM_001322980.1:c.538G>T, NM_001322983.2:c.538G>A, NM_001322983.2:c.538G>C, NM_001322983.2:c.538G>T, NM_001322983.1:c.538G>A, NM_001322983.1:c.538G>C, NM_001322983.1:c.538G>T, NP_073591.2:p.Val180Ile, NP_073591.2:p.Val180Leu, NP_073591.2:p.Val180Phe, NP_001309906.1:p.Val180Ile, NP_001309906.1:p.Val180Leu, NP_001309906.1:p.Val180Phe, NP_001309911.1:p.Val119Ile, NP_001309911.1:p.Val119Leu, NP_001309911.1:p.Val119Phe, NP_001309907.1:p.Val119Ile, NP_001309907.1:p.Val119Leu, NP_001309907.1:p.Val119Phe, NP_001309910.1:p.Val180Ile, NP_001309910.1:p.Val180Leu, NP_001309910.1:p.Val180Phe, NP_001309909.1:p.Val180Ile, NP_001309909.1:p.Val180Leu, NP_001309909.1:p.Val180Phe, NP_001309912.1:p.Val180Ile, NP_001309912.1:p.Val180Leu, NP_001309912.1:p.Val180Phe

Select item 142921579419.

rs1429215794 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:175513572 (GRCh38)
5:174940575 (GRCh37)
Canonical SPDI:: NC_000005.10:175513571:A:G
Gene:: SFXN1 (Varview)
Functional Consequence:: missense_variant,intron_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)
HGVS:: NC_000005.10:g.175513572A>G, NC_000005.9:g.174940575A>G, NM_022754.7:c.706A>G, NM_022754.6:c.706A>G, NM_022754.5:c.706A>G, NM_001322977.2:c.706A>G, NM_001322977.1:c.706A>G, NM_001322982.2:c.523A>G, NM_001322982.1:c.523A>G, NM_001322978.2:c.523A>G, NM_001322978.1:c.523A>G, NM_001322983.2:c.706A>G, NM_001322983.1:c.706A>G, NP_073591.2:p.Met236Val, NP_001309906.1:p.Met236Val, NP_001309911.1:p.Met175Val, NP_001309907.1:p.Met175Val, NP_001309912.1:p.Met236Val

Select item 142852710120.

rs1428527101 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:175509087 (GRCh38)
5:174936090 (GRCh37)
Canonical SPDI:: NC_000005.10:175509086:A:G
Gene:: SFXN1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.175509087A>G, NC_000005.9:g.174936090A>G, NM_022754.7:c.220A>G, NM_022754.6:c.220A>G, NM_022754.5:c.220A>G, NM_001322977.2:c.220A>G, NM_001322977.1:c.220A>G, NM_001322982.2:c.37A>G, NM_001322982.1:c.37A>G, NM_001322978.2:c.37A>G, NM_001322978.1:c.37A>G, NM_001322981.2:c.220A>G, NM_001322981.1:c.220A>G, NM_001322980.2:c.220A>G, NM_001322980.1:c.220A>G, NM_001322983.2:c.220A>G, NM_001322983.1:c.220A>G, NP_073591.2:p.Ile74Val, NP_001309906.1:p.Ile74Val, NP_001309911.1:p.Ile13Val, NP_001309907.1:p.Ile13Val, NP_001309910.1:p.Ile74Val, NP_001309909.1:p.Ile74Val, NP_001309912.1:p.Ile74Val

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Result Filters

Validation Status

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Global MAF

Custom range

Additional filters

Display Settings:

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Items: 1 to 20 of 248

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