SNP Links for Protein (Select 1145521972) - SNP

Links from Protein

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Select item 14893694351.

rs1489369435 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:82264695 (GRCh38)
15:82557036 (GRCh37)
Canonical SPDI:: NC_000015.10:82264694:C:T
Gene:: EFL1 (Varview), SAXO2 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.82264695C>T, NC_000015.9:g.82557036C>T, NM_001348705.2:c.131C>T, NM_001348705.1:c.131C>T, NR_145959.2:n.218C>T, NR_145959.1:n.225C>T, NR_145958.2:n.138C>T, NR_145958.1:n.145C>T, NP_001335634.1:p.Thr44Ile

Select item 14870128222.

rs1487012822 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 15:82264773 (GRCh38)
15:82557114 (GRCh37)
Canonical SPDI:: NC_000015.10:82264772:G:T
Gene:: SAXO2 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000015.10:g.82264773G>T, NC_000015.9:g.82557114G>T, NM_001348705.2:c.209G>T, NM_001348705.1:c.209G>T, NR_145959.2:n.296G>T, NR_145959.1:n.303G>T, NR_145958.2:n.216G>T, NR_145958.1:n.223G>T, NP_001335634.1:p.Cys70Phe

Select item 14844046533.

rs1484404653 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 15:82263180 (GRCh38)
15:82555521 (GRCh37)
Canonical SPDI:: NC_000015.10:82263179:C:G,NC_000015.10:82263179:C:T
Gene:: EFL1 (Varview), SAXO2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000015.10:g.82263180C>G, NC_000015.10:g.82263180C>T, NC_000015.9:g.82555521C>G, NC_000015.9:g.82555521C>T, XM_024449902.2:c.20C>G, XM_024449902.2:c.20C>T, XM_024449902.1:c.20C>G, XM_024449902.1:c.20C>T, NM_001348700.2:c.-97C>G, NM_001348700.2:c.-97C>T, NM_001348700.1:c.-97C>G, NM_001348700.1:c.-97C>T, NM_001348702.2:c.-153C>G, NM_001348702.2:c.-153C>T, NM_001348702.1:c.-153C>G, NM_001348702.1:c.-153C>T, NM_001348701.2:c.-97C>G, NM_001348701.2:c.-97C>T, NM_001348701.1:c.-97C>G, NM_001348701.1:c.-97C>T, NM_001348704.2:c.20C>G, NM_001348704.2:c.20C>T, NM_001348704.1:c.20C>G, NM_001348704.1:c.20C>T, NM_001348705.2:c.20C>G, NM_001348705.2:c.20C>T, NM_001348705.1:c.20C>G, NM_001348705.1:c.20C>T, XM_047432398.1:c.20C>G, XM_047432398.1:c.20C>T, XP_024305670.1:p.Pro7Arg, XP_024305670.1:p.Pro7Leu, NP_001335633.1:p.Pro7Arg, NP_001335633.1:p.Pro7Leu, NP_001335634.1:p.Pro7Arg, NP_001335634.1:p.Pro7Leu, XP_047288354.1:p.Pro7Arg, XP_047288354.1:p.Pro7Leu

Select item 14837753204.

rs1483775320 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:82264846 (GRCh38)
15:82557187 (GRCh37)
Canonical SPDI:: NC_000015.10:82264845:A:C
Gene:: SAXO2 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000035/1 (TOMMO)
HGVS:: NC_000015.10:g.82264846A>C, NC_000015.9:g.82557187A>C, NM_001348705.2:c.282A>C, NM_001348705.1:c.282A>C, NR_145959.2:n.369A>C, NR_145959.1:n.376A>C, NR_145958.2:n.289A>C, NR_145958.1:n.296A>C

Select item 14754293635.

rs1475429363 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:82264733 (GRCh38)
15:82557074 (GRCh37)
Canonical SPDI:: NC_000015.10:82264732:A:C
Gene:: EFL1 (Varview), SAXO2 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,synonymous_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000015.10:g.82264733A>C, NC_000015.9:g.82557074A>C, NM_001348705.2:c.169A>C, NM_001348705.1:c.169A>C, NR_145959.2:n.256A>C, NR_145959.1:n.263A>C, NR_145958.2:n.176A>C, NR_145958.1:n.183A>C

Select item 14617101276.

rs1461710127 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:82264849 (GRCh38)
15:82557190 (GRCh37)
Canonical SPDI:: NC_000015.10:82264848:A:G
Gene:: SAXO2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.82264849A>G, NC_000015.9:g.82557190A>G, NM_001348705.2:c.285A>G, NM_001348705.1:c.285A>G, NR_145959.2:n.372A>G, NR_145959.1:n.379A>G, NR_145958.2:n.292A>G, NR_145958.1:n.299A>G

Select item 14603328247.

rs1460332824 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:82263431 (GRCh38)
15:82555772 (GRCh37)
Canonical SPDI:: NC_000015.10:82263430:A:C
Gene:: EFL1 (Varview), SAXO2 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,missense_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.82263431A>C, NC_000015.9:g.82555772A>C, NM_001348705.2:c.101A>C, NM_001348705.1:c.101A>C, NR_145959.2:n.188A>C, NR_145959.1:n.195A>C, NP_001335634.1:p.Glu34Ala

Select item 14348020528.

rs1434802052 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:82263438 (GRCh38)
15:82555779 (GRCh37)
Canonical SPDI:: NC_000015.10:82263437:A:G
Gene:: EFL1 (Varview), SAXO2 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,2KB_upstream_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)
G=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.82263438A>G, NC_000015.9:g.82555779A>G, NM_001348705.2:c.108A>G, NM_001348705.1:c.108A>G, NR_145959.2:n.195A>G, NR_145959.1:n.202A>G

Select item 14334360379.

rs1433436037 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 15:82263373 (GRCh38)
15:82555714 (GRCh37)
Canonical SPDI:: NC_000015.10:82263372:A:T
Gene:: EFL1 (Varview), SAXO2 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.82263373A>T, NC_000015.9:g.82555714A>T, NM_001348705.2:c.43A>T, NM_001348705.1:c.43A>T, NR_145959.2:n.130A>T, NR_145959.1:n.137A>T, NP_001335634.1:p.Ser15Cys

Select item 142946236710.

rs1429462367 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:82264842 (GRCh38)
15:82557183 (GRCh37)
Canonical SPDI:: NC_000015.10:82264841:C:T
Gene:: SAXO2 (Varview)
Functional Consequence:: missense_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.82264842C>T, NC_000015.9:g.82557183C>T, NM_001348705.2:c.278C>T, NM_001348705.1:c.278C>T, NR_145959.2:n.365C>T, NR_145959.1:n.372C>T, NR_145958.2:n.285C>T, NR_145958.1:n.292C>T, NP_001335634.1:p.Pro93Leu

Select item 141068495111.

rs1410684951 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 15:82264680 (GRCh38)
15:82557021 (GRCh37)
Canonical SPDI:: NC_000015.10:82264679:C:A,NC_000015.10:82264679:C:G
Gene:: EFL1 (Varview), SAXO2 (Varview)
Functional Consequence:: intron_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.82264680C>A, NC_000015.10:g.82264680C>G, NC_000015.9:g.82557021C>A, NC_000015.9:g.82557021C>G, NM_001348705.2:c.116C>A, NM_001348705.2:c.116C>G, NM_001348705.1:c.116C>A, NM_001348705.1:c.116C>G, NR_145959.2:n.203C>A, NR_145959.2:n.203C>G, NR_145959.1:n.210C>A, NR_145959.1:n.210C>G, NR_145958.2:n.123C>A, NR_145958.2:n.123C>G, NR_145958.1:n.130C>A, NR_145958.1:n.130C>G, NP_001335634.1:p.Thr39Asn, NP_001335634.1:p.Thr39Ser

Select item 140087838212.

rs1400878382 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:82263359 (GRCh38)
15:82555700 (GRCh37)
Canonical SPDI:: NC_000015.10:82263358:C:T
Gene:: EFL1 (Varview), SAXO2 (Varview)
Functional Consequence:: intron_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
T=0.000023/3 (GnomAD_exomes)
HGVS:: NC_000015.10:g.82263359C>T, NC_000015.9:g.82555700C>T, NM_001348705.2:c.29C>T, NM_001348705.1:c.29C>T, NR_145959.2:n.116C>T, NR_145959.1:n.123C>T, NP_001335634.1:p.Ala10Val

Select item 140002444213.

rs1400024442 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 15:82264723 (GRCh38)
15:82557064 (GRCh37)
Canonical SPDI:: NC_000015.10:82264722:A:G,NC_000015.10:82264722:A:T
Gene:: EFL1 (Varview), SAXO2 (Varview)
Functional Consequence:: intron_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000015.10:g.82264723A>G, NC_000015.10:g.82264723A>T, NC_000015.9:g.82557064A>G, NC_000015.9:g.82557064A>T, NM_001348705.2:c.159A>G, NM_001348705.2:c.159A>T, NM_001348705.1:c.159A>G, NM_001348705.1:c.159A>T, NR_145959.2:n.246A>G, NR_145959.2:n.246A>T, NR_145959.1:n.253A>G, NR_145959.1:n.253A>T, NR_145958.2:n.166A>G, NR_145958.2:n.166A>T, NR_145958.1:n.173A>G, NR_145958.1:n.173A>T, NP_001335634.1:p.Gln53His

Select item 139345360114.

rs1393453601 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 15:82264850 (GRCh38)
15:82557191 (GRCh37)
Canonical SPDI:: NC_000015.10:82264849:T:G
Gene:: SAXO2 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.82264850T>G, NC_000015.9:g.82557191T>G, NM_001348705.2:c.286T>G, NM_001348705.1:c.286T>G, NR_145959.2:n.373T>G, NR_145959.1:n.380T>G, NR_145958.2:n.293T>G, NR_145958.1:n.300T>G, NP_001335634.1:p.Cys96Gly

Select item 139156104915.

rs1391561049 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:82263410 (GRCh38)
15:82555751 (GRCh37)
Canonical SPDI:: NC_000015.10:82263409:T:C
Gene:: EFL1 (Varview), SAXO2 (Varview)
Functional Consequence:: intron_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.82263410T>C, NC_000015.9:g.82555751T>C, NM_001348705.2:c.80T>C, NM_001348705.1:c.80T>C, NR_145959.2:n.167T>C, NR_145959.1:n.174T>C, NP_001335634.1:p.Phe27Ser

Select item 139125229916.

rs1391252299 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:82263370 (GRCh38)
15:82555711 (GRCh37)
Canonical SPDI:: NC_000015.10:82263369:C:T
Gene:: EFL1 (Varview), SAXO2 (Varview)
Functional Consequence:: intron_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.82263370C>T, NC_000015.9:g.82555711C>T, NM_001348705.2:c.40C>T, NM_001348705.1:c.40C>T, NR_145959.2:n.127C>T, NR_145959.1:n.134C>T, NP_001335634.1:p.Pro14Ser

Select item 134442305817.

rs1344423058 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 15:82263398 (GRCh38)
15:82555739 (GRCh37)
Canonical SPDI:: NC_000015.10:82263397:C:G
Gene:: EFL1 (Varview), SAXO2 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.82263398C>G, NC_000015.9:g.82555739C>G, NM_001348705.2:c.68C>G, NM_001348705.1:c.68C>G, NR_145959.2:n.155C>G, NR_145959.1:n.162C>G, NP_001335634.1:p.Ser23Cys

Select item 134332038718.

rs1343320387 [Homo sapiens]

Variant type:: INS
Alleles:: ->AAT [Show Flanks]
Chromosome:: 15:82264844 (GRCh38)
15:82557186 (GRCh37)
Canonical SPDI:: NC_000015.10:82264844::AAT
Gene:: SAXO2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,inframe_insertion
Validated:: by frequency,by alfa
MAF:: AAT=0./0 (ALFA)
AAT=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.82264844_82264845insAAT, NC_000015.9:g.82557185_82557186insAAT, NM_001348705.2:c.280_281insAAT, NM_001348705.1:c.280_281insAAT, NR_145959.2:n.367_368insAAT, NR_145959.1:n.374_375insAAT, NR_145958.2:n.287_288insAAT, NR_145958.1:n.294_295insAAT, NP_001335634.1:p.Leu94_Leu95insGln

Select item 134008534819.

rs1340085348 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 15:82263386 (GRCh38)
15:82555727 (GRCh37)
Canonical SPDI:: NC_000015.10:82263385:T:G
Gene:: EFL1 (Varview), SAXO2 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant,intron_variant,coding_sequence_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_000015.10:g.82263386T>G, NC_000015.9:g.82555727T>G, NM_001348705.2:c.56T>G, NM_001348705.1:c.56T>G, NR_145959.2:n.143T>G, NR_145959.1:n.150T>G, NP_001335634.1:p.Phe19Cys

Select item 133212263020.

rs1332122630 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:82263395 (GRCh38)
15:82555736 (GRCh37)
Canonical SPDI:: NC_000015.10:82263394:C:T
Gene:: EFL1 (Varview), SAXO2 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.82263395C>T, NC_000015.9:g.82555736C>T, NM_001348705.2:c.65C>T, NM_001348705.1:c.65C>T, NR_145959.2:n.152C>T, NR_145959.1:n.159C>T, NP_001335634.1:p.Pro22Leu

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