SNP Links for Protein (Select 156142186) - SNP

Links from Protein

Items: 1 to 20 of 411

<< First< Prev

Page of 21

Next >Last >>

Select item 14909193711.

rs1490919371 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:30793484 (GRCh38)
17:29120502 (GRCh37)
Canonical SPDI:: NC_000017.11:30793483:G:T
Gene:: CRLF3 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.30793484G>T, NC_000017.10:g.29120502G>T, NG_032911.2:g.36277C>A, NM_015986.4:c.792C>A, NM_015986.3:c.792C>A, NR_073118.2:n.625C>A, NR_073118.1:n.693C>A

Select item 14903450902.

rs1490345090 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:30797375 (GRCh38)
17:29124393 (GRCh37)
Canonical SPDI:: NC_000017.11:30797374:C:T
Gene:: CRLF3 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.30797375C>T, NC_000017.10:g.29124393C>T, NG_032911.2:g.32386G>A, NM_015986.4:c.361G>A, NM_015986.3:c.361G>A, NR_073118.2:n.194G>A, NR_073118.1:n.262G>A, NP_057070.3:p.Val121Met

Select item 14815540003.

rs1481554000 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:30796216 (GRCh38)
17:29123234 (GRCh37)
Canonical SPDI:: NC_000017.11:30796215:C:G
Gene:: CRLF3 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.30796216C>G, NC_000017.10:g.29123234C>G, NG_032911.2:g.33545G>C, NM_015986.4:c.547G>C, NM_015986.3:c.547G>C, NR_073118.2:n.380G>C, NR_073118.1:n.448G>C, NP_057070.3:p.Val183Leu

Select item 14804841744.

rs1480484174 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:30785940 (GRCh38)
17:29112958 (GRCh37)
Canonical SPDI:: NC_000017.11:30785939:C:G,NC_000017.11:30785939:C:T
Gene:: CRLF3 (Varview), SUZ12P1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.30785940C>G, NC_000017.11:g.30785940C>T, NC_000017.10:g.29112958C>G, NC_000017.10:g.29112958C>T, NG_032911.2:g.43821G>C, NG_032911.2:g.43821G>A, NM_015986.4:c.1051G>C, NM_015986.4:c.1051G>A, NM_015986.3:c.1051G>C, NM_015986.3:c.1051G>A, NR_073118.2:n.884G>C, NR_073118.2:n.884G>A, NR_073118.1:n.952G>C, NR_073118.1:n.952G>A, NP_057070.3:p.Ala351Pro, NP_057070.3:p.Ala351Thr

Select item 14736793385.

rs1473679338 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:30784349 (GRCh38)
17:29111367 (GRCh37)
Canonical SPDI:: NC_000017.11:30784348:T:C
Gene:: CRLF3 (Varview), SUZ12P1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
C=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.30784349T>C, NC_000017.10:g.29111367T>C, NG_032911.2:g.45412A>G, NM_015986.4:c.1167A>G, NM_015986.3:c.1167A>G, NR_073118.2:n.1000A>G, NR_073118.1:n.1068A>G

Select item 14726694386.

rs1472669438 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 17:30793566 (GRCh38)
17:29120584 (GRCh37)
Canonical SPDI:: NC_000017.11:30793565:AA:A
Gene:: CRLF3 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.30793567del, NC_000017.10:g.29120585del, NG_032911.2:g.36195del, NM_015986.4:c.710del, NM_015986.3:c.710del, NR_073118.2:n.543del, NR_073118.1:n.611del, NP_057070.3:p.Leu237fs

Select item 14700421187.

rs1470042118 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:30792513 (GRCh38)
17:29119531 (GRCh37)
Canonical SPDI:: NC_000017.11:30792512:T:C
Gene:: CRLF3 (Varview), SUZ12P1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
C=0.000019/5 (TOPMED)
HGVS:: NC_000017.11:g.30792513T>C, NC_000017.10:g.29119531T>C, NG_032911.2:g.37248A>G, NM_015986.4:c.886A>G, NM_015986.3:c.886A>G, NR_073118.2:n.719A>G, NR_073118.1:n.787A>G, NR_144394.1:n.2942T>C, NR_144395.1:n.2831T>C, NP_057070.3:p.Asn296Asp

Select item 14695568068.

rs1469556806 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 17:30793621 (GRCh38)
17:29120639 (GRCh37)
Canonical SPDI:: NC_000017.11:30793620:T:
Gene:: CRLF3 (Varview)
Functional Consequence:: frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00005/1 (ALFA)
-=0.00022/1 (Estonian)
HGVS:: NC_000017.11:g.30793621del, NC_000017.10:g.29120639del, NG_032911.2:g.36140del, NM_015986.4:c.655del, NM_015986.3:c.655del, NR_073118.2:n.488del, NR_073118.1:n.556del, NP_057070.3:p.Thr219fs

Select item 14694951939.

rs1469495193 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACGTGACAGTGGACCCAGAA>- [Show Flanks]
Chromosome:: 17:30784372 (GRCh38)
17:29111390 (GRCh37)
Canonical SPDI:: NC_000017.11:30784369:AAACGTGACAGTGGACCCAGAA:AA
Gene:: CRLF3 (Varview), SUZ12P1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,stop_gained,intron_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.30784372_30784391del, NC_000017.10:g.29111390_29111409del, NG_032911.2:g.45372_45391del, NM_015986.4:c.1127_1146del, NM_015986.3:c.1127_1146del, NR_073118.2:n.960_979del, NR_073118.1:n.1028_1047del, NP_057070.3:p.Thr375_Ser376insTer

Select item 146834212510.

rs1468342125 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:30804067 (GRCh38)
17:29131085 (GRCh37)
Canonical SPDI:: NC_000017.11:30804066:C:T
Gene:: CRLF3 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.30804067C>T, NC_000017.10:g.29131085C>T, NG_032911.2:g.25694G>A, NM_015986.4:c.171G>A, NM_015986.3:c.171G>A

Select item 146814010511.

rs1468140105 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:30797338 (GRCh38)
17:29124356 (GRCh37)
Canonical SPDI:: NC_000017.11:30797337:T:A
Gene:: CRLF3 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.30797338T>A, NC_000017.10:g.29124356T>A, NG_032911.2:g.32423A>T, NM_015986.4:c.398A>T, NM_015986.3:c.398A>T, NR_073118.2:n.231A>T, NR_073118.1:n.299A>T, NP_057070.3:p.Lys133Ile

Select item 146703768412.

rs1467037684 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 17:30793581 (GRCh38)
17:29120599 (GRCh37)
Canonical SPDI:: NC_000017.11:30793580:G:C,NC_000017.11:30793580:G:T
Gene:: CRLF3 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.30793581G>C, NC_000017.11:g.30793581G>T, NC_000017.10:g.29120599G>C, NC_000017.10:g.29120599G>T, NG_032911.2:g.36180C>G, NG_032911.2:g.36180C>A, NM_015986.4:c.695C>G, NM_015986.4:c.695C>A, NM_015986.3:c.695C>G, NM_015986.3:c.695C>A, NR_073118.2:n.528C>G, NR_073118.2:n.528C>A, NR_073118.1:n.596C>G, NR_073118.1:n.596C>A, NP_057070.3:p.Thr232Ser, NP_057070.3:p.Thr232Asn

Select item 146624926713.

rs1466249267 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:30796238 (GRCh38)
17:29123256 (GRCh37)
Canonical SPDI:: NC_000017.11:30796237:T:A
Gene:: CRLF3 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.30796238T>A, NC_000017.10:g.29123256T>A, NG_032911.2:g.33523A>T, NM_015986.4:c.525A>T, NM_015986.3:c.525A>T, NR_073118.2:n.358A>T, NR_073118.1:n.426A>T

Select item 146474795414.

rs1464747954 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:30785952 (GRCh38)
17:29112970 (GRCh37)
Canonical SPDI:: NC_000017.11:30785951:G:A
Gene:: CRLF3 (Varview), SUZ12P1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,stop_gained,intron_variant,coding_sequence_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_000017.11:g.30785952G>A, NC_000017.10:g.29112970G>A, NG_032911.2:g.43809C>T, NM_015986.4:c.1039C>T, NM_015986.3:c.1039C>T, NR_073118.2:n.872C>T, NR_073118.1:n.940C>T, NP_057070.3:p.Gln347Ter

Select item 146128011315.

rs1461280113 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:30784359 (GRCh38)
17:29111377 (GRCh37)
Canonical SPDI:: NC_000017.11:30784358:G:A
Gene:: CRLF3 (Varview), SUZ12P1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,intron_variant,coding_sequence_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_000017.11:g.30784359G>A, NC_000017.10:g.29111377G>A, NG_032911.2:g.45402C>T, NM_015986.4:c.1157C>T, NM_015986.3:c.1157C>T, NR_073118.2:n.990C>T, NR_073118.1:n.1058C>T, NP_057070.3:p.Ala386Val

Select item 146071442616.

rs1460714426 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:30793656 (GRCh38)
17:29120674 (GRCh37)
Canonical SPDI:: NC_000017.11:30793655:G:A
Gene:: CRLF3 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.30793656G>A, NC_000017.10:g.29120674G>A, NG_032911.2:g.36105C>T, NM_015986.4:c.620C>T, NM_015986.3:c.620C>T, NR_073118.2:n.453C>T, NR_073118.1:n.521C>T, NP_057070.3:p.Thr207Ile

Select item 145760065217.

rs1457600652 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:30784232 (GRCh38)
17:29111250 (GRCh37)
Canonical SPDI:: NC_000017.11:30784231:A:T
Gene:: CRLF3 (Varview), SUZ12P1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.30784232A>T, NC_000017.10:g.29111250A>T, NG_032911.2:g.45529T>A, NM_015986.4:c.1284T>A, NM_015986.3:c.1284T>A, NR_073118.2:n.1117T>A, NR_073118.1:n.1185T>A, NP_057070.3:p.Phe428Leu

Select item 145343092718.

rs1453430927 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:30803942 (GRCh38)
17:29130960 (GRCh37)
Canonical SPDI:: NC_000017.11:30803941:A:G
Gene:: CRLF3 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.30803942A>G, NC_000017.10:g.29130960A>G, NG_032911.2:g.25819T>C, NM_015986.4:c.296T>C, NM_015986.3:c.296T>C, NP_057070.3:p.Ile99Thr

Select item 145089795919.

rs1450897959 has merged into rs753676460 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>-,CC [Show Flanks]
Chromosome:: 17:30824642 (GRCh38)
17:29151660 (GRCh37)
Canonical SPDI:: NC_000017.11:30824641:CCCCCC:CCCCC,NC_000017.11:30824641:CCCCCC:CCCCCCC
Gene:: CRLF3 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCC=0.000108/2 (ALFA)
-=0.000116/12 (ExAC)
-=0.000123/27 (GnomAD_exomes)
-=0.000446/2 (Estonian)
HGVS:: NC_000017.11:g.30824647del, NC_000017.11:g.30824647dup, NC_000017.10:g.29151665del, NC_000017.10:g.29151665dup, NG_032911.2:g.5119del, NG_032911.2:g.5119dup, NM_015986.4:c.10del, NM_015986.4:c.10dup, NM_015986.3:c.10del, NM_015986.3:c.10dup, NR_073118.2:n.51del, NR_073118.2:n.51dup, NR_073118.1:n.119del, NR_073118.1:n.119dup, NG_074873.1:g.57del, NG_074873.1:g.57dup, NP_057070.3:p.Ala4fs, NP_057070.3:p.Ala4fs

Select item 144726819820.

rs1447268198 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:30784267 (GRCh38)
17:29111285 (GRCh37)
Canonical SPDI:: NC_000017.11:30784266:A:C
Gene:: CRLF3 (Varview), SUZ12P1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.30784267A>C, NC_000017.10:g.29111285A>C, NG_032911.2:g.45494T>G, NM_015986.4:c.1249T>G, NM_015986.3:c.1249T>G, NR_073118.2:n.1082T>G, NR_073118.1:n.1150T>G, NP_057070.3:p.Trp417Gly

<< First< Prev

Page of 21

Next >Last >>

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 411

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity