SNP Links for Protein (Select 13449277) - SNP

Links from Protein

Items: 1 to 20 of 539

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Select item 14883041661.

rs1488304166 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:41193325 (GRCh38)
19:41699230 (GRCh37)
Canonical SPDI:: NC_000019.10:41193324:C:G
Gene:: CYP2S1 (Varview), LOC124904790 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_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)
HGVS:: NC_000019.10:g.41193325C>G, NC_000019.9:g.41699230C>G, NG_007933.3:g.5116C>G, NM_030622.8:c.61C>G, NM_030622.7:c.61C>G, NM_030622.6:c.61C>G, XM_047438711.1:c.61C>G, NP_085125.1:p.Leu21Val, XP_047294667.1:p.Leu21Val

Select item 14843490452.

rs1484349045 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->C
Chromosome:: no mapping
Canonical SPDI:

Select item 14833887383.

rs1483388738 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:41206001 (GRCh38)
19:41711906 (GRCh37)
Canonical SPDI:: NC_000019.10:41206000:C:T
Gene:: CYP2S1 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.41206001C>T, NC_000019.9:g.41711906C>T, NG_007933.3:g.17792C>T, NM_030622.8:c.1208C>T, NM_030622.7:c.1208C>T, NM_030622.6:c.1208C>T, XM_047438711.1:c.*3C>T, NP_085125.1:p.Pro403Leu

Select item 14804813654.

rs1480481365 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:41194660 (GRCh38)
19:41700565 (GRCh37)
Canonical SPDI:: NC_000019.10:41194659:C:T
Gene:: CYP2S1 (Varview), LOC124904790 (Varview)
Functional Consequence:: 2KB_upstream_variant,synonymous_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.41194660C>T, NC_000019.9:g.41700565C>T, NG_007933.3:g.6451C>T, NM_030622.8:c.294C>T, NM_030622.7:c.294C>T, NM_030622.6:c.294C>T, XM_047438711.1:c.294C>T

Select item 14798083275.

rs1479808327 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 19:41201266 (GRCh38)
19:41707171 (GRCh37)
Canonical SPDI:: NC_000019.10:41201265:G:
Gene:: CYP2S1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.41201266del, NC_000019.9:g.41707171del, NG_007933.3:g.13057del, NM_030622.8:c.870del, NM_030622.7:c.870del, NM_030622.6:c.870del, XM_047438711.1:c.870del, NP_085125.1:p.Asn291fs, XP_047294667.1:p.Asn291fs

Select item 14788203776.

rs1478820377 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:41193398 (GRCh38)
19:41699303 (GRCh37)
Canonical SPDI:: NC_000019.10:41193397:T:A
Gene:: CYP2S1 (Varview), LOC124904790 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.41193398T>A, NC_000019.9:g.41699303T>A, NG_007933.3:g.5189T>A, NM_030622.8:c.134T>A, NM_030622.7:c.134T>A, NM_030622.6:c.134T>A, XM_047438711.1:c.134T>A, NP_085125.1:p.Leu45His, XP_047294667.1:p.Leu45His

Select item 14768912907.

rs1476891290 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:41193332 (GRCh38)
19:41699237 (GRCh37)
Canonical SPDI:: NC_000019.10:41193331:T:A
Gene:: CYP2S1 (Varview), LOC124904790 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.41193332T>A, NC_000019.9:g.41699237T>A, NG_007933.3:g.5123T>A, NM_030622.8:c.68T>A, NM_030622.7:c.68T>A, NM_030622.6:c.68T>A, XM_047438711.1:c.68T>A, NP_085125.1:p.Leu23Gln, XP_047294667.1:p.Leu23Gln

Select item 14708822108.

rs1470882210 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:41198592 (GRCh38)
19:41704497 (GRCh37)
Canonical SPDI:: NC_000019.10:41198591:C:T
Gene:: CYP2S1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.41198592C>T, NC_000019.9:g.41704497C>T, NG_007933.3:g.10383C>T, NM_030622.8:c.624C>T, NM_030622.7:c.624C>T, NM_030622.6:c.624C>T, XM_047438711.1:c.624C>T

Select item 14705466019.

rs1470546601 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:41198546 (GRCh38)
19:41704451 (GRCh37)
Canonical SPDI:: NC_000019.10:41198545:A:G
Gene:: CYP2S1 (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)
G=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.41198546A>G, NC_000019.9:g.41704451A>G, NG_007933.3:g.10337A>G, NM_030622.8:c.578A>G, NM_030622.7:c.578A>G, NM_030622.6:c.578A>G, XM_047438711.1:c.578A>G, NP_085125.1:p.Tyr193Cys, XP_047294667.1:p.Tyr193Cys

Select item 146986026910.

rs1469860269 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:41197825 (GRCh38)
19:41703730 (GRCh37)
Canonical SPDI:: NC_000019.10:41197824:T:C
Gene:: CYP2S1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.41197825T>C, NC_000019.9:g.41703730T>C, NG_007933.3:g.9616T>C, NM_030622.8:c.390T>C, NM_030622.7:c.390T>C, NM_030622.6:c.390T>C, XM_047438711.1:c.390T>C

Select item 146708276011.

rs1467082760 has merged into rs773280588 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCCTGCTGCTGACGCTGGCGCTG>-,CTCCTGCTGCTGACGCTGGCGCTGCTCCTGCTGCTGACGCTGGCGCTG [Show Flanks]
Chromosome:: 19:41193310 (GRCh38)
19:41699215 (GRCh37)
Canonical SPDI:: NC_000019.10:41193298:CGCTGGCGCTGCTCCTGCTGCTGACGCTGGCGCTG:CGCTGGCGCTG,NC_000019.10:41193298:CGCTGGCGCTGCTCCTGCTGCTGACGCTGGCGCTG:CGCTGGCGCTGCTCCTGCTGCTGACGCTGGCGCTGCTCCTGCTGCTGACGCTGGCGCTG
Gene:: CYP2S1 (Varview), LOC124904790 (Varview)
Functional Consequence:: upstream_transcript_variant,inframe_deletion,inframe_insertion,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGCTGGCGCTGCTCCTGCTGCTGACGCTGGCGCTGCTCCTGCTGCTGACGCTGGCGCTG=0.003561/82 (ALFA)
-=0.000015/4 (TOPMED)
CGCTGGCGCTGCTCCTGCTGCTGA=0.001806/245 (GnomAD_exomes)
CGCTGGCGCTGCTCCTGCTGCTGA=0.004537/56 (ExAC)
HGVS:: NC_000019.10:g.41193310_41193333del, NC_000019.10:g.41193310_41193333dup, NC_000019.9:g.41699215_41699238del, NC_000019.9:g.41699215_41699238dup, NG_007933.3:g.5101_5124del, NG_007933.3:g.5101_5124dup, NM_030622.8:c.46_69del, NM_030622.8:c.46_69dup, NM_030622.7:c.46_69del, NM_030622.7:c.46_69dup, NM_030622.6:c.46_69del, NM_030622.6:c.46_69dup, XM_047438711.1:c.46_69del, XM_047438711.1:c.46_69dup, NP_085125.1:p.Leu16_Leu23del, NP_085125.1:p.Leu16_Leu23dup, XP_047294667.1:p.Leu16_Leu23del, XP_047294667.1:p.Leu16_Leu23dup

Select item 146564171812.

rs1465641718 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:41206098 (GRCh38)
19:41712003 (GRCh37)
Canonical SPDI:: NC_000019.10:41206097:A:G
Gene:: CYP2S1 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.41206098A>G, NC_000019.9:g.41712003A>G, NG_007933.3:g.17889A>G, NM_030622.8:c.1305A>G, NM_030622.7:c.1305A>G, NM_030622.6:c.1305A>G

Select item 146513157813.

rs1465131578 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:41206324 (GRCh38)
19:41712229 (GRCh37)
Canonical SPDI:: NC_000019.10:41206323:T:C
Gene:: CYP2S1 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.41206324T>C, NC_000019.9:g.41712229T>C, NG_007933.3:g.18115T>C, NM_030622.8:c.1351T>C, NM_030622.7:c.1351T>C, NM_030622.6:c.1351T>C, NP_085125.1:p.Phe451Leu

Select item 145945994814.

rs1459459948 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:41203631 (GRCh38)
19:41709536 (GRCh37)
Canonical SPDI:: NC_000019.10:41203630:G:A
Gene:: CYP2S1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.41203631G>A, NC_000019.9:g.41709536G>A, NG_007933.3:g.15422G>A, NM_030622.8:c.1158G>A, NM_030622.7:c.1158G>A, NM_030622.6:c.1158G>A

Select item 145747333015.

rs1457473330 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:41203450 (GRCh38)
19:41709355 (GRCh37)
Canonical SPDI:: NC_000019.10:41203449:A:G
Gene:: CYP2S1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.41203450A>G, NC_000019.9:g.41709355A>G, NG_007933.3:g.15241A>G, NM_030622.8:c.977A>G, NM_030622.7:c.977A>G, NM_030622.6:c.977A>G, NP_085125.1:p.Lys326Arg

Select item 145717484216.

rs1457174842 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:41193345 (GRCh38)
19:41699250 (GRCh37)
Canonical SPDI:: NC_000019.10:41193344:G:A,NC_000019.10:41193344:G:C
Gene:: CYP2S1 (Varview), LOC124904790 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,synonymous_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.41193345G>A, NC_000019.10:g.41193345G>C, NC_000019.9:g.41699250G>A, NC_000019.9:g.41699250G>C, NG_007933.3:g.5136G>A, NG_007933.3:g.5136G>C, NM_030622.8:c.81G>A, NM_030622.8:c.81G>C, NM_030622.7:c.81G>A, NM_030622.7:c.81G>C, NM_030622.6:c.81G>A, NM_030622.6:c.81G>C, XM_047438711.1:c.81G>A, XM_047438711.1:c.81G>C, NP_085125.1:p.Arg27Ser, XP_047294667.1:p.Arg27Ser

Select item 145443938017.

rs1454439380 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:41197834 (GRCh38)
19:41703739 (GRCh37)
Canonical SPDI:: NC_000019.10:41197833:T:C
Gene:: CYP2S1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.41197834T>C, NC_000019.9:g.41703739T>C, NG_007933.3:g.9625T>C, NM_030622.8:c.399T>C, NM_030622.7:c.399T>C, NM_030622.6:c.399T>C, XM_047438711.1:c.399T>C

Select item 145278330418.

rs1452783304 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:41197916 (GRCh38)
19:41703821 (GRCh37)
Canonical SPDI:: NC_000019.10:41197915:C:T
Gene:: CYP2S1 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.41197916C>T, NC_000019.9:g.41703821C>T, NG_007933.3:g.9707C>T, NM_030622.8:c.481C>T, NM_030622.7:c.481C>T, NM_030622.6:c.481C>T, XM_047438711.1:c.481C>T, NP_085125.1:p.Gln161Ter, XP_047294667.1:p.Gln161Ter

Select item 145010130119.

rs1450101301 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:41198821 (GRCh38)
19:41704726 (GRCh37)
Canonical SPDI:: NC_000019.10:41198820:A:G
Gene:: CYP2S1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.41198821A>G, NC_000019.9:g.41704726A>G, NG_007933.3:g.10612A>G, NM_030622.8:c.767A>G, NM_030622.7:c.767A>G, NM_030622.6:c.767A>G, XM_047438711.1:c.767A>G, NP_085125.1:p.Gln256Arg, XP_047294667.1:p.Gln256Arg

Select item 144725104720.

rs1447251047 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:41193291 (GRCh38)
19:41699196 (GRCh37)
Canonical SPDI:: NC_000019.10:41193290:G:T
Gene:: CYP2S1 (Varview), LOC124904790 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.41193291G>T, NC_000019.9:g.41699196G>T, NG_007933.3:g.5082G>T, NM_030622.8:c.27G>T, NM_030622.7:c.27G>T, NM_030622.6:c.27G>T, XM_047438711.1:c.27G>T

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