SNP Links for Protein (Select 991820347) - SNP

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:93850019 (GRCh38)
12:94243795 (GRCh37)
Canonical SPDI:: NC_000012.12:93850018:A:G
Gene:: CRADD (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.93850019A>G, NC_000012.11:g.94243795A>G, NG_032159.2:g.177645A>G, NM_003805.5:c.348A>G, NM_003805.4:c.348A>G, NM_003805.3:c.348A>G, NM_001320099.2:c.348A>G, NM_001320099.1:c.348A>G

Select item 14427260858.

rs1442726085 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 12:93850261 (GRCh38)
12:94244037 (GRCh37)
Canonical SPDI:: NC_000012.12:93850260:T:A,NC_000012.12:93850260:T:C
Gene:: CRADD (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.0001/1 (ALFA)
HGVS:: NC_000012.12:g.93850261T>A, NC_000012.12:g.93850261T>C, NC_000012.11:g.94244037T>A, NC_000012.11:g.94244037T>C, NG_032159.2:g.177887T>A, NG_032159.2:g.177887T>C, NM_003805.5:c.590T>A, NM_003805.5:c.590T>C, NM_003805.4:c.590T>A, NM_003805.4:c.590T>C, NM_003805.3:c.590T>A, NM_003805.3:c.590T>C, NM_001320099.2:c.590T>A, NM_001320099.2:c.590T>C, NM_001320099.1:c.590T>A, NM_001320099.1:c.590T>C, NP_003796.1:p.Met197Lys, NP_003796.1:p.Met197Thr, NP_001307028.1:p.Met197Lys, NP_001307028.1:p.Met197Thr

Select item 14384259429.

rs1438425942 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:93679030 (GRCh38)
12:94072806 (GRCh37)
Canonical SPDI:: NC_000012.12:93679029:C:T
Gene:: CRADD (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.93679030C>T, NC_000012.11:g.94072806C>T, NG_032159.2:g.6656C>T, NM_003805.5:c.256C>T, NM_003805.4:c.256C>T, NM_003805.3:c.256C>T, NM_001320101.3:c.256C>T, NM_001320101.2:c.256C>T, NM_001320101.1:c.256C>T, NM_001320099.2:c.256C>T, NM_001320099.1:c.256C>T, NR_135147.2:n.360C>T, NR_135147.1:n.364C>T, NM_001320100.2:c.256C>T, NM_001320100.1:c.256C>T, NM_001330126.1:c.256C>T, XM_017020145.2:c.256C>T, XM_017020145.1:c.256C>T, XM_024449252.2:c.256C>T, XM_024449252.1:c.256C>T, XM_047429805.1:c.256C>T, XM_047429804.1:c.256C>T

Select item 143619458010.

rs1436194580 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:93678857 (GRCh38)
12:94072633 (GRCh37)
Canonical SPDI:: NC_000012.12:93678856:A:G
Gene:: CRADD (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.93678857A>G, NC_000012.11:g.94072633A>G, NG_032159.2:g.6483A>G, NM_003805.5:c.83A>G, NM_003805.4:c.83A>G, NM_003805.3:c.83A>G, NM_001320101.3:c.83A>G, NM_001320101.2:c.83A>G, NM_001320101.1:c.83A>G, NM_001320099.2:c.83A>G, NM_001320099.1:c.83A>G, NR_135147.2:n.187A>G, NR_135147.1:n.191A>G, NM_001320100.2:c.83A>G, NM_001320100.1:c.83A>G, NM_001330126.1:c.83A>G, XM_017020145.2:c.83A>G, XM_017020145.1:c.83A>G, XM_024449252.2:c.83A>G, XM_024449252.1:c.83A>G, XM_047429805.1:c.83A>G, XM_047429804.1:c.83A>G, NP_003796.1:p.Gln28Arg, NP_001307030.1:p.Gln28Arg, NP_001307028.1:p.Gln28Arg, NP_001307029.1:p.Gln28Arg, NP_001317055.1:p.Gln28Arg, XP_016875634.1:p.Gln28Arg, XP_024305020.1:p.Gln28Arg, XP_047285761.1:p.Gln28Arg, XP_047285760.1:p.Gln28Arg

Select item 143158308211.

rs1431583082 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:93678832 (GRCh38)
12:94072608 (GRCh37)
Canonical SPDI:: NC_000012.12:93678831:G:A
Gene:: CRADD (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.93678832G>A, NC_000012.11:g.94072608G>A, NG_032159.2:g.6458G>A, NM_003805.5:c.58G>A, NM_003805.4:c.58G>A, NM_003805.3:c.58G>A, NM_001320101.3:c.58G>A, NM_001320101.2:c.58G>A, NM_001320101.1:c.58G>A, NM_001320099.2:c.58G>A, NM_001320099.1:c.58G>A, NR_135147.2:n.162G>A, NR_135147.1:n.166G>A, NM_001320100.2:c.58G>A, NM_001320100.1:c.58G>A, NM_001330126.1:c.58G>A, XM_017020145.2:c.58G>A, XM_017020145.1:c.58G>A, XM_024449252.2:c.58G>A, XM_024449252.1:c.58G>A, XM_047429805.1:c.58G>A, XM_047429804.1:c.58G>A, NP_003796.1:p.Val20Ile, NP_001307030.1:p.Val20Ile, NP_001307028.1:p.Val20Ile, NP_001307029.1:p.Val20Ile, NP_001317055.1:p.Val20Ile, XP_016875634.1:p.Val20Ile, XP_024305020.1:p.Val20Ile, XP_047285761.1:p.Val20Ile, XP_047285760.1:p.Val20Ile

Select item 143060937912.

rs1430609379 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:93850103 (GRCh38)
12:94243879 (GRCh37)
Canonical SPDI:: NC_000012.12:93850102:T:C
Gene:: CRADD (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.93850103T>C, NC_000012.11:g.94243879T>C, NG_032159.2:g.177729T>C, NM_003805.5:c.432T>C, NM_003805.4:c.432T>C, NM_003805.3:c.432T>C, NM_001320099.2:c.432T>C, NM_001320099.1:c.432T>C

Select item 143020552813.

rs1430205528 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:93850212 (GRCh38)
12:94243988 (GRCh37)
Canonical SPDI:: NC_000012.12:93850211:C:A
Gene:: CRADD (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.93850212C>A, NC_000012.11:g.94243988C>A, NG_032159.2:g.177838C>A, NM_003805.5:c.541C>A, NM_003805.4:c.541C>A, NM_003805.3:c.541C>A, NM_001320099.2:c.541C>A, NM_001320099.1:c.541C>A, NP_003796.1:p.His181Asn, NP_001307028.1:p.His181Asn

Select item 143010826214.

rs1430108262 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:93678903 (GRCh38)
12:94072679 (GRCh37)
Canonical SPDI:: NC_000012.12:93678902:A:G
Gene:: CRADD (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.93678903A>G, NC_000012.11:g.94072679A>G, NG_032159.2:g.6529A>G, NM_003805.5:c.129A>G, NM_003805.4:c.129A>G, NM_003805.3:c.129A>G, NM_001320101.3:c.129A>G, NM_001320101.2:c.129A>G, NM_001320101.1:c.129A>G, NM_001320099.2:c.129A>G, NM_001320099.1:c.129A>G, NR_135147.2:n.233A>G, NR_135147.1:n.237A>G, NM_001320100.2:c.129A>G, NM_001320100.1:c.129A>G, NM_001330126.1:c.129A>G, XM_017020145.2:c.129A>G, XM_017020145.1:c.129A>G, XM_024449252.2:c.129A>G, XM_024449252.1:c.129A>G, XM_047429805.1:c.129A>G, XM_047429804.1:c.129A>G

Select item 142867535515.

rs1428675355 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:93679050 (GRCh38)
12:94072826 (GRCh37)
Canonical SPDI:: NC_000012.12:93679049:G:A
Gene:: CRADD (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000012/3 (GnomAD_exomes)
A=0.000021/3 (GnomAD)
A=0.00003/8 (TOPMED)
HGVS:: NC_000012.12:g.93679050G>A, NC_000012.11:g.94072826G>A, NG_032159.2:g.6676G>A, NM_003805.5:c.276G>A, NM_003805.4:c.276G>A, NM_003805.3:c.276G>A, NM_001320101.3:c.276G>A, NM_001320101.2:c.276G>A, NM_001320101.1:c.276G>A, NM_001320099.2:c.276G>A, NM_001320099.1:c.276G>A, NR_135147.2:n.380G>A, NR_135147.1:n.384G>A, NM_001320100.2:c.276G>A, NM_001320100.1:c.276G>A, NM_001330126.1:c.276G>A, XM_017020145.2:c.276G>A, XM_017020145.1:c.276G>A, XM_024449252.2:c.276G>A, XM_024449252.1:c.276G>A, XM_047429805.1:c.276G>A, XM_047429804.1:c.276G>A

Select item 142846850216.

rs1428468502 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:93850249 (GRCh38)
12:94244025 (GRCh37)
Canonical SPDI:: NC_000012.12:93850248:T:G
Gene:: CRADD (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.93850249T>G, NC_000012.11:g.94244025T>G, NG_032159.2:g.177875T>G, NM_003805.5:c.578T>G, NM_003805.4:c.578T>G, NM_003805.3:c.578T>G, NM_001320099.2:c.578T>G, NM_001320099.1:c.578T>G, NP_003796.1:p.Leu193Arg, NP_001307028.1:p.Leu193Arg

Select item 140737758117.

rs1407377581 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 12:93678970 (GRCh38)
12:94072746 (GRCh37)
Canonical SPDI:: NC_000012.12:93678969:C:G,NC_000012.12:93678969:C:T
Gene:: CRADD (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000031/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.93678970C>G, NC_000012.12:g.93678970C>T, NC_000012.11:g.94072746C>G, NC_000012.11:g.94072746C>T, NG_032159.2:g.6596C>G, NG_032159.2:g.6596C>T, NM_003805.5:c.196C>G, NM_003805.5:c.196C>T, NM_003805.4:c.196C>G, NM_003805.4:c.196C>T, NM_003805.3:c.196C>G, NM_003805.3:c.196C>T, NM_001320101.3:c.196C>G, NM_001320101.3:c.196C>T, NM_001320101.2:c.196C>G, NM_001320101.2:c.196C>T, NM_001320101.1:c.196C>G, NM_001320101.1:c.196C>T, NM_001320099.2:c.196C>G, NM_001320099.2:c.196C>T, NM_001320099.1:c.196C>G, NM_001320099.1:c.196C>T, NR_135147.2:n.300C>G, NR_135147.2:n.300C>T, NR_135147.1:n.304C>G, NR_135147.1:n.304C>T, NM_001320100.2:c.196C>G, NM_001320100.2:c.196C>T, NM_001320100.1:c.196C>G, NM_001320100.1:c.196C>T, NM_001330126.1:c.196C>G, NM_001330126.1:c.196C>T, XM_017020145.2:c.196C>G, XM_017020145.2:c.196C>T, XM_017020145.1:c.196C>G, XM_017020145.1:c.196C>T, XM_024449252.2:c.196C>G, XM_024449252.2:c.196C>T, XM_024449252.1:c.196C>G, XM_024449252.1:c.196C>T, XM_047429805.1:c.196C>G, XM_047429805.1:c.196C>T, XM_047429804.1:c.196C>G, XM_047429804.1:c.196C>T, NP_003796.1:p.Pro66Ala, NP_003796.1:p.Pro66Ser, NP_001307030.1:p.Pro66Ala, NP_001307030.1:p.Pro66Ser, NP_001307028.1:p.Pro66Ala, NP_001307028.1:p.Pro66Ser, NP_001307029.1:p.Pro66Ala, NP_001307029.1:p.Pro66Ser, NP_001317055.1:p.Pro66Ala, NP_001317055.1:p.Pro66Ser, XP_016875634.1:p.Pro66Ala, XP_016875634.1:p.Pro66Ser, XP_024305020.1:p.Pro66Ala, XP_024305020.1:p.Pro66Ser, XP_047285761.1:p.Pro66Ala, XP_047285761.1:p.Pro66Ser, XP_047285760.1:p.Pro66Ala, XP_047285760.1:p.Pro66Ser

Select item 140158965218.

rs1401589652 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:93850163 (GRCh38)
12:94243939 (GRCh37)
Canonical SPDI:: NC_000012.12:93850162:C:T
Gene:: CRADD (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.93850163C>T, NC_000012.11:g.94243939C>T, NG_032159.2:g.177789C>T, NM_003805.5:c.492C>T, NM_003805.4:c.492C>T, NM_003805.3:c.492C>T, NM_001320099.2:c.492C>T, NM_001320099.1:c.492C>T

Select item 138427697619.

rs1384276976 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:93850241 (GRCh38)
12:94244017 (GRCh37)
Canonical SPDI:: NC_000012.12:93850240:C:T
Gene:: CRADD (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.93850241C>T, NC_000012.11:g.94244017C>T, NG_032159.2:g.177867C>T, NM_003805.5:c.570C>T, NM_003805.4:c.570C>T, NM_003805.3:c.570C>T, NM_001320099.2:c.570C>T, NM_001320099.1:c.570C>T

Select item 137671463420.

rs1376714634 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:93679000 (GRCh38)
12:94072776 (GRCh37)
Canonical SPDI:: NC_000012.12:93678999:C:T
Gene:: CRADD (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000051/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.93679000C>T, NC_000012.11:g.94072776C>T, NG_032159.2:g.6626C>T, NM_003805.5:c.226C>T, NM_003805.4:c.226C>T, NM_003805.3:c.226C>T, NM_001320101.3:c.226C>T, NM_001320101.2:c.226C>T, NM_001320101.1:c.226C>T, NM_001320099.2:c.226C>T, NM_001320099.1:c.226C>T, NR_135147.2:n.330C>T, NR_135147.1:n.334C>T, NM_001320100.2:c.226C>T, NM_001320100.1:c.226C>T, NM_001330126.1:c.226C>T, XM_017020145.2:c.226C>T, XM_017020145.1:c.226C>T, XM_024449252.2:c.226C>T, XM_024449252.1:c.226C>T, XM_047429805.1:c.226C>T, XM_047429804.1:c.226C>T

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