SNP Links for Nucleotide (Select 555290148) - SNP

Links from Nucleotide

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Select item 14905564041.

rs1490556404 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:154830996 (GRCh38)
6:155152130 (GRCh37)
Canonical SPDI:: NC_000006.12:154830995:G:T
Gene:: SCAF8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.154830996G>T, NC_000006.11:g.155152130G>T, NM_014892.5:c.2215G>T, NM_014892.4:c.2215G>T, NM_014892.3:c.2215G>T, NM_001286199.2:c.2215G>T, NM_001286199.1:c.2215G>T, NM_001286188.1:c.2449G>T, NM_001286189.1:c.2413G>T, NM_001286194.1:c.2350G>T, NP_055707.3:p.Gly739Cys, NP_001273128.1:p.Gly739Cys, NP_001273117.1:p.Gly817Cys, NP_001273118.1:p.Gly805Cys, NP_001273123.1:p.Gly784Cys

Select item 14899345262.

rs1489934526 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:154802014 (GRCh38)
6:155123148 (GRCh37)
Canonical SPDI:: NC_000006.12:154802013:C:A
Gene:: SCAF8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.154802014C>A, NC_000006.11:g.155123148C>A, NM_014892.5:c.650C>A, NM_014892.4:c.650C>A, NM_014892.3:c.650C>A, NM_001286199.2:c.650C>A, NM_001286199.1:c.650C>A, NM_001286188.1:c.884C>A, NM_001286189.1:c.848C>A, NM_001286194.1:c.785C>A, NP_055707.3:p.Pro217His, NP_001273128.1:p.Pro217His, NP_001273117.1:p.Pro295His, NP_001273118.1:p.Pro283His, NP_001273123.1:p.Pro262His

Select item 14890342933.

rs1489034293 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:154733799 (GRCh38)
6:155054933 (GRCh37)
Canonical SPDI:: NC_000006.12:154733798:C:T
Gene:: SCAF8 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.154733799C>T, NC_000006.11:g.155054933C>T, NM_014892.5:c.-102C>T, NM_014892.4:c.-102C>T, NM_014892.3:c.-102C>T, NM_001286199.2:c.-102C>T, NM_001286199.1:c.-102C>T, NM_001286188.1:c.133C>T, NP_001273117.1:p.Pro45Ser

Select item 14889641134.

rs1488964113 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:154795051 (GRCh38)
6:155116185 (GRCh37)
Canonical SPDI:: NC_000006.12:154795050:G:A
Gene:: SCAF8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.154795051G>A, NC_000006.11:g.155116185G>A, NM_014892.5:c.518G>A, NM_014892.4:c.518G>A, NM_014892.3:c.518G>A, NM_001286199.2:c.518G>A, NM_001286199.1:c.518G>A, NM_001286188.1:c.752G>A, NM_001286189.1:c.716G>A, NM_001286194.1:c.653G>A, NP_055707.3:p.Gly173Asp, NP_001273128.1:p.Gly173Asp, NP_001273117.1:p.Gly251Asp, NP_001273118.1:p.Gly239Asp, NP_001273123.1:p.Gly218Asp

Select item 14889442475.

rs1488944247 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:154795104 (GRCh38)
6:155116238 (GRCh37)
Canonical SPDI:: NC_000006.12:154795103:G:A
Gene:: SCAF8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.154795104G>A, NC_000006.11:g.155116238G>A, NM_014892.5:c.571G>A, NM_014892.4:c.571G>A, NM_014892.3:c.571G>A, NM_001286199.2:c.571G>A, NM_001286199.1:c.571G>A, NM_001286188.1:c.805G>A, NM_001286189.1:c.769G>A, NM_001286194.1:c.706G>A, NP_055707.3:p.Val191Ile, NP_001273128.1:p.Val191Ile, NP_001273117.1:p.Val269Ile, NP_001273118.1:p.Val257Ile, NP_001273123.1:p.Val236Ile

Select item 14885083346.

rs1488508334 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:154802051 (GRCh38)
6:155123185 (GRCh37)
Canonical SPDI:: NC_000006.12:154802050:T:G
Gene:: SCAF8 (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_000006.12:g.154802051T>G, NC_000006.11:g.155123185T>G, NM_014892.5:c.687T>G, NM_014892.4:c.687T>G, NM_014892.3:c.687T>G, NM_001286199.2:c.687T>G, NM_001286199.1:c.687T>G, NM_001286188.1:c.921T>G, NM_001286189.1:c.885T>G, NM_001286194.1:c.822T>G

Select item 14884378437.

rs1488437843 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:154830927 (GRCh38)
6:155152061 (GRCh37)
Canonical SPDI:: NC_000006.12:154830926:G:A,NC_000006.12:154830926:G:C
Gene:: SCAF8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.154830927G>A, NC_000006.12:g.154830927G>C, NC_000006.11:g.155152061G>A, NC_000006.11:g.155152061G>C, NM_014892.5:c.2146G>A, NM_014892.5:c.2146G>C, NM_014892.4:c.2146G>A, NM_014892.4:c.2146G>C, NM_014892.3:c.2146G>A, NM_014892.3:c.2146G>C, NM_001286199.2:c.2146G>A, NM_001286199.2:c.2146G>C, NM_001286199.1:c.2146G>A, NM_001286199.1:c.2146G>C, NM_001286188.1:c.2380G>A, NM_001286188.1:c.2380G>C, NM_001286189.1:c.2344G>A, NM_001286189.1:c.2344G>C, NM_001286194.1:c.2281G>A, NM_001286194.1:c.2281G>C, NP_055707.3:p.Val716Met, NP_055707.3:p.Val716Leu, NP_001273128.1:p.Val716Met, NP_001273128.1:p.Val716Leu, NP_001273117.1:p.Val794Met, NP_001273117.1:p.Val794Leu, NP_001273118.1:p.Val782Met, NP_001273118.1:p.Val782Leu, NP_001273123.1:p.Val761Met, NP_001273123.1:p.Val761Leu

Select item 14881064698.

rs1488106469 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:154822404 (GRCh38)
6:155143538 (GRCh37)
Canonical SPDI:: NC_000006.12:154822403:T:C
Gene:: SCAF8 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.154822404T>C, NC_000006.11:g.155143538T>C, NM_014892.5:c.1921T>C, NM_014892.4:c.1921T>C, NM_014892.3:c.1921T>C, NM_001286199.2:c.1921T>C, NM_001286199.1:c.1921T>C, NM_001286188.1:c.2155T>C, NM_001286189.1:c.2119T>C, NM_001286194.1:c.2056T>C

Select item 14874808859.

rs1487480885 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:154832974 (GRCh38)
6:155154108 (GRCh37)
Canonical SPDI:: NC_000006.12:154832973:C:G
Gene:: SCAF8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000006.12:g.154832974C>G, NC_000006.11:g.155154108C>G, NM_014892.5:c.3395C>G, NM_014892.4:c.3395C>G, NM_014892.3:c.3395C>G, NM_001286199.2:c.3395C>G, NM_001286199.1:c.3395C>G, NM_001286188.1:c.3629C>G, NM_001286189.1:c.3593C>G, NM_001286194.1:c.3530C>G, NP_055707.3:p.Pro1132Arg, NP_001273128.1:p.Pro1132Arg, NP_001273117.1:p.Pro1210Arg, NP_001273118.1:p.Pro1198Arg, NP_001273123.1:p.Pro1177Arg

Select item 148689371010.

rs1486893710 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:154832200 (GRCh38)
6:155153334 (GRCh37)
Canonical SPDI:: NC_000006.12:154832199:C:A
Gene:: SCAF8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.154832200C>A, NC_000006.11:g.155153334C>A, NM_014892.5:c.2621C>A, NM_014892.4:c.2621C>A, NM_014892.3:c.2621C>A, NM_001286199.2:c.2621C>A, NM_001286199.1:c.2621C>A, NM_001286188.1:c.2855C>A, NM_001286189.1:c.2819C>A, NM_001286194.1:c.2756C>A, NP_055707.3:p.Pro874Gln, NP_001273128.1:p.Pro874Gln, NP_001273117.1:p.Pro952Gln, NP_001273118.1:p.Pro940Gln, NP_001273123.1:p.Pro919Gln

Select item 148664347711.

rs1486643477 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTATTA>-,TTA [Show Flanks]
Chromosome:: 6:154834116 (GRCh38)
6:155155250 (GRCh37)
Canonical SPDI:: NC_000006.12:154834111:ATTATTATTA:ATTA,NC_000006.12:154834111:ATTATTATTA:ATTATTA
Gene:: SCAF8 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATTATTA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
-=0.000156/1 (1000Genomes)
HGVS:: NC_000006.12:g.154834113TTA[1], NC_000006.12:g.154834113TTA[2], NC_000006.11:g.155155247TTA[1], NC_000006.11:g.155155247TTA[2], NM_014892.5:c.*718TTA[1], NM_014892.5:c.*718TTA[2], NM_014892.4:c.*718TTA[1], NM_014892.4:c.*718TTA[2], NM_001286199.2:c.*718TTA[1], NM_001286199.2:c.*718TTA[2], NM_001286199.1:c.*718TTA[1], NM_001286199.1:c.*718TTA[2], NM_001286188.1:c.*718TTA[1], NM_001286188.1:c.*718TTA[2], NM_001286189.1:c.*718TTA[1], NM_001286189.1:c.*718TTA[2], NM_001286194.1:c.*718TTA[1], NM_001286194.1:c.*718TTA[2]

Select item 148641023612.

rs1486410236 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:154815741 (GRCh38)
6:155136875 (GRCh37)
Canonical SPDI:: NC_000006.12:154815740:G:C
Gene:: SCAF8 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.154815741G>C, NC_000006.11:g.155136875G>C, NM_014892.5:c.1446G>C, NM_014892.4:c.1446G>C, NM_014892.3:c.1446G>C, NM_001286199.2:c.1446G>C, NM_001286199.1:c.1446G>C, NM_001286188.1:c.1680G>C, NM_001286189.1:c.1644G>C, NM_001286194.1:c.1581G>C

Select item 148620246413.

rs1486202464 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:154832205 (GRCh38)
6:155153339 (GRCh37)
Canonical SPDI:: NC_000006.12:154832204:A:G
Gene:: SCAF8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000051/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.154832205A>G, NC_000006.11:g.155153339A>G, NM_014892.5:c.2626A>G, NM_014892.4:c.2626A>G, NM_014892.3:c.2626A>G, NM_001286199.2:c.2626A>G, NM_001286199.1:c.2626A>G, NM_001286188.1:c.2860A>G, NM_001286189.1:c.2824A>G, NM_001286194.1:c.2761A>G, NP_055707.3:p.Ile876Val, NP_001273128.1:p.Ile876Val, NP_001273117.1:p.Ile954Val, NP_001273118.1:p.Ile942Val, NP_001273123.1:p.Ile921Val

Select item 148596535914.

rs1485965359 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:154733393 (GRCh38)
6:155054527 (GRCh37)
Canonical SPDI:: NC_000006.12:154733392:G:A
Gene:: SCAF8 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant
HGVS:: NC_000006.12:g.154733393G>A, NC_000006.11:g.155054527G>A, NM_014892.4:c.-508G>A, NM_014892.3:c.-508G>A, NM_001286188.1:c.-30G>A, NM_001286189.1:c.-30G>A, NM_001286199.1:c.-217G>A, NM_001286194.1:c.-30G>A

Select item 148457004615.

rs1484570046 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:154832611 (GRCh38)
6:155153745 (GRCh37)
Canonical SPDI:: NC_000006.12:154832610:A:G
Gene:: SCAF8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.154832611A>G, NC_000006.11:g.155153745A>G, NM_014892.5:c.3032A>G, NM_014892.4:c.3032A>G, NM_014892.3:c.3032A>G, NM_001286199.2:c.3032A>G, NM_001286199.1:c.3032A>G, NM_001286188.1:c.3266A>G, NM_001286189.1:c.3230A>G, NM_001286194.1:c.3167A>G, NP_055707.3:p.Glu1011Gly, NP_001273128.1:p.Glu1011Gly, NP_001273117.1:p.Glu1089Gly, NP_001273118.1:p.Glu1077Gly, NP_001273123.1:p.Glu1056Gly

Select item 148430200116.

rs1484302001 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:154805430 (GRCh38)
6:155126564 (GRCh37)
Canonical SPDI:: NC_000006.12:154805429:C:G
Gene:: SCAF8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000006.12:g.154805430C>G, NC_000006.11:g.155126564C>G, NM_014892.5:c.925C>G, NM_014892.4:c.925C>G, NM_014892.3:c.925C>G, NM_001286199.2:c.925C>G, NM_001286199.1:c.925C>G, NM_001286188.1:c.1159C>G, NM_001286189.1:c.1123C>G, NM_001286194.1:c.1060C>G, NP_055707.3:p.Gln309Glu, NP_001273128.1:p.Gln309Glu, NP_001273117.1:p.Gln387Glu, NP_001273118.1:p.Gln375Glu, NP_001273123.1:p.Gln354Glu

Select item 148337684917.

rs1483376849 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:154833151 (GRCh38)
6:155154285 (GRCh37)
Canonical SPDI:: NC_000006.12:154833150:C:T
Gene:: SCAF8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.154833151C>T, NC_000006.11:g.155154285C>T, NM_014892.5:c.3572C>T, NM_014892.4:c.3572C>T, NM_014892.3:c.3572C>T, NM_001286199.2:c.3572C>T, NM_001286199.1:c.3572C>T, NM_001286188.1:c.3806C>T, NM_001286189.1:c.3770C>T, NM_001286194.1:c.3707C>T, NP_055707.3:p.Pro1191Leu, NP_001273128.1:p.Pro1191Leu, NP_001273117.1:p.Pro1269Leu, NP_001273118.1:p.Pro1257Leu, NP_001273123.1:p.Pro1236Leu

Select item 148334548318.

rs1483345483 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 6:154834171 (GRCh38)
6:155155305 (GRCh37)
Canonical SPDI:: NC_000006.12:154834170:A:G,NC_000006.12:154834170:A:T
Gene:: SCAF8 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.154834171A>G, NC_000006.12:g.154834171A>T, NC_000006.11:g.155155305A>G, NC_000006.11:g.155155305A>T, NM_014892.5:c.*776A>G, NM_014892.5:c.*776A>T, NM_014892.4:c.*776A>G, NM_014892.4:c.*776A>T, NM_001286199.2:c.*776A>G, NM_001286199.2:c.*776A>T, NM_001286199.1:c.*776A>G, NM_001286199.1:c.*776A>T, NM_001286188.1:c.*776A>G, NM_001286188.1:c.*776A>T, NM_001286189.1:c.*776A>G, NM_001286189.1:c.*776A>T, NM_001286194.1:c.*776A>G, NM_001286194.1:c.*776A>T

Select item 148312926919.

rs1483129269 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCC [Show Flanks]
Chromosome:: 6:154832303 (GRCh38)
6:155153438 (GRCh37)
Canonical SPDI:: NC_000006.12:154832303:CCCCC:CCCCCCCC
Gene:: SCAF8 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_insertion
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCC=0.000071/1 (ALFA)
CCC=0.000004/1 (GnomAD_exomes)
CCC=0.000007/1 (GnomAD)
CCC=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.154832306_154832308dup, NC_000006.11:g.155153440_155153442dup, NM_014892.5:c.2727_2729dup, NM_014892.4:c.2727_2729dup, NM_014892.3:c.2727_2729dup, NM_001286199.2:c.2727_2729dup, NM_001286199.1:c.2727_2729dup, NM_001286188.1:c.2961_2963dup, NM_001286189.1:c.2925_2927dup, NM_001286194.1:c.2862_2864dup, NP_055707.3:p.Pro910dup, NP_001273128.1:p.Pro910dup, NP_001273117.1:p.Pro988dup, NP_001273118.1:p.Pro976dup, NP_001273123.1:p.Pro955dup

Select item 148292750720.

rs1482927507 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:154810169 (GRCh38)
6:155131303 (GRCh37)
Canonical SPDI:: NC_000006.12:154810168:A:C
Gene:: SCAF8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000006.12:g.154810169A>C, NC_000006.11:g.155131303A>C, NM_014892.5:c.1381A>C, NM_014892.4:c.1381A>C, NM_014892.3:c.1381A>C, NM_001286199.2:c.1381A>C, NM_001286199.1:c.1381A>C, NM_001286188.1:c.1615A>C, NM_001286189.1:c.1579A>C, NM_001286194.1:c.1516A>C, NP_055707.3:p.Lys461Gln, NP_001273128.1:p.Lys461Gln, NP_001273117.1:p.Lys539Gln, NP_001273118.1:p.Lys527Gln, NP_001273123.1:p.Lys506Gln

dbSNP

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