SNP Links for Protein (Select 1034627501) - SNP

Select item 14891465561.

rs1489146556 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 21:36699852 (GRCh38)
21:38072152 (GRCh37)
Canonical SPDI:: NC_000021.9:36699851:C:A
Gene:: SIM2 (Varview), LOC105369308 (Varview), LOC107985492 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_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_000021.9:g.36699852C>A, NC_000021.8:g.38072152C>A, NG_029519.2:g.5739C>A, NG_029519.1:g.5162C>A, NM_005069.6:c.106C>A, NM_005069.5:c.106C>A, NM_005069.4:c.106C>A, NM_005069.3:c.106C>A, NM_009586.5:c.106C>A, NM_009586.4:c.106C>A, NM_009586.3:c.106C>A, NM_009586.2:c.106C>A, XM_017028442.3:c.106C>A, XM_017028442.2:c.106C>A, XM_017028442.1:c.106C>A, XM_047440953.1:c.106C>A, NP_005060.1:p.Gln36Lys, NP_033664.2:p.Gln36Lys, XP_016883931.1:p.Gln36Lys, XP_047296909.1:p.Gln36Lys

Select item 14877203742.

rs1487720374 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 21:36741753 (GRCh38)
21:38114054 (GRCh37)
Canonical SPDI:: NC_000021.9:36741752:G:A,NC_000021.9:36741752:G:T
Gene:: SIM2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.36741753G>A, NC_000021.9:g.36741753G>T, NC_000021.8:g.38114054G>A, NC_000021.8:g.38114054G>T, NG_029519.2:g.47640G>A, NG_029519.2:g.47640G>T, NG_029519.1:g.47064G>A, NG_029519.1:g.47064G>T, NM_005069.6:c.887G>A, NM_005069.6:c.887G>T, NM_005069.5:c.887G>A, NM_005069.5:c.887G>T, NM_005069.4:c.887G>A, NM_005069.4:c.887G>T, NM_005069.3:c.887G>A, NM_005069.3:c.887G>T, NM_009586.5:c.887G>A, NM_009586.5:c.887G>T, NM_009586.4:c.887G>A, NM_009586.4:c.887G>T, NM_009586.3:c.887G>A, NM_009586.3:c.887G>T, NM_009586.2:c.887G>A, NM_009586.2:c.887G>T, XM_017028442.3:c.887G>A, XM_017028442.3:c.887G>T, XM_017028442.2:c.887G>A, XM_017028442.2:c.887G>T, XM_017028442.1:c.887G>A, XM_017028442.1:c.887G>T, XM_011529694.2:c.584G>A, XM_011529694.2:c.584G>T, XM_011529694.1:c.584G>A, XM_011529694.1:c.584G>T, XM_047440952.1:c.584G>A, XM_047440952.1:c.584G>T, NP_005060.1:p.Arg296Gln, NP_005060.1:p.Arg296Leu, NP_033664.2:p.Arg296Gln, NP_033664.2:p.Arg296Leu, XP_016883931.1:p.Arg296Gln, XP_016883931.1:p.Arg296Leu, XP_011527996.1:p.Arg195Gln, XP_011527996.1:p.Arg195Leu, XP_047296908.1:p.Arg195Gln, XP_047296908.1:p.Arg195Leu

Select item 14853366533.

rs1485336653 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 21:36709198 (GRCh38)
21:38081498 (GRCh37)
Canonical SPDI:: NC_000021.9:36709197:G:A,NC_000021.9:36709197:G:T
Gene:: SIM2 (Varview), LOC107985492 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,500B_downstream_variant,coding_sequence_variant,upstream_transcript_variant,5_prime_UTR_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000021.9:g.36709198G>A, NC_000021.9:g.36709198G>T, NC_000021.8:g.38081498G>A, NC_000021.8:g.38081498G>T, NG_029519.2:g.15085G>A, NG_029519.2:g.15085G>T, NG_029519.1:g.14508G>A, NG_029519.1:g.14508G>T, NM_005069.6:c.206G>A, NM_005069.6:c.206G>T, NM_005069.5:c.206G>A, NM_005069.5:c.206G>T, NM_005069.4:c.206G>A, NM_005069.4:c.206G>T, NM_005069.3:c.206G>A, NM_005069.3:c.206G>T, NM_009586.5:c.206G>A, NM_009586.5:c.206G>T, NM_009586.4:c.206G>A, NM_009586.4:c.206G>T, NM_009586.3:c.206G>A, NM_009586.3:c.206G>T, NM_009586.2:c.206G>A, NM_009586.2:c.206G>T, XM_017028442.3:c.206G>A, XM_017028442.3:c.206G>T, XM_017028442.2:c.206G>A, XM_017028442.2:c.206G>T, XM_017028442.1:c.206G>A, XM_017028442.1:c.206G>T, XM_047440952.1:c.-3061G>A, XM_047440952.1:c.-3061G>T, XM_047440953.1:c.206G>A, XM_047440953.1:c.206G>T, NP_005060.1:p.Arg69His, NP_005060.1:p.Arg69Leu, NP_033664.2:p.Arg69His, NP_033664.2:p.Arg69Leu, XP_016883931.1:p.Arg69His, XP_016883931.1:p.Arg69Leu, XP_047296909.1:p.Arg69His, XP_047296909.1:p.Arg69Leu

Select item 14845553194.

rs1484555319 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:36723072 (GRCh38)
21:38095373 (GRCh37)
Canonical SPDI:: NC_000021.9:36723071:T:C
Gene:: SIM2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000021.9:g.36723072T>C, NC_000021.8:g.38095373T>C, NG_029519.2:g.28959T>C, NG_029519.1:g.28383T>C, NM_005069.6:c.485T>C, NM_005069.5:c.485T>C, NM_005069.4:c.485T>C, NM_005069.3:c.485T>C, NM_009586.5:c.485T>C, NM_009586.4:c.485T>C, NM_009586.3:c.485T>C, NM_009586.2:c.485T>C, XM_017028442.3:c.485T>C, XM_017028442.2:c.485T>C, XM_017028442.1:c.485T>C, XM_011529694.2:c.182T>C, XM_011529694.1:c.182T>C, XM_047440952.1:c.182T>C, XM_047440953.1:c.485T>C, NP_005060.1:p.Leu162Pro, NP_033664.2:p.Leu162Pro, XP_016883931.1:p.Leu162Pro, XP_011527996.1:p.Leu61Pro, XP_047296908.1:p.Leu61Pro, XP_047296909.1:p.Leu162Pro

Select item 14845441105.

rs1484544110 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 21:36699803 (GRCh38)
21:38072103 (GRCh37)
Canonical SPDI:: NC_000021.9:36699802:G:C
Gene:: SIM2 (Varview), LOC105369308 (Varview), LOC107985492 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.36699803G>C, NC_000021.8:g.38072103G>C, NG_029519.2:g.5690G>C, NG_029519.1:g.5113G>C, NM_005069.6:c.57G>C, NM_005069.5:c.57G>C, NM_005069.4:c.57G>C, NM_005069.3:c.57G>C, NM_009586.5:c.57G>C, NM_009586.4:c.57G>C, NM_009586.3:c.57G>C, NM_009586.2:c.57G>C, XM_017028442.3:c.57G>C, XM_017028442.2:c.57G>C, XM_017028442.1:c.57G>C, XM_047440953.1:c.57G>C, NP_005060.1:p.Glu19Asp, NP_033664.2:p.Glu19Asp, XP_016883931.1:p.Glu19Asp, XP_047296909.1:p.Glu19Asp

Select item 14752939796.

rs1475293979 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 21:36726296 (GRCh38)
21:38098597 (GRCh37)
Canonical SPDI:: NC_000021.9:36726295:A:C
Gene:: SIM2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000021.9:g.36726296A>C, NC_000021.8:g.38098597A>C, NG_029519.2:g.32183A>C, NG_029519.1:g.31607A>C, NM_005069.6:c.721A>C, NM_005069.5:c.721A>C, NM_005069.4:c.721A>C, NM_005069.3:c.721A>C, NM_009586.5:c.721A>C, NM_009586.4:c.721A>C, NM_009586.3:c.721A>C, NM_009586.2:c.721A>C, XM_017028442.3:c.721A>C, XM_017028442.2:c.721A>C, XM_017028442.1:c.721A>C, XM_011529694.2:c.418A>C, XM_011529694.1:c.418A>C, XM_047440952.1:c.418A>C, XM_047440953.1:c.721A>C, NP_005060.1:p.Lys241Gln, NP_033664.2:p.Lys241Gln, XP_016883931.1:p.Lys241Gln, XP_011527996.1:p.Lys140Gln, XP_047296908.1:p.Lys140Gln, XP_047296909.1:p.Lys241Gln

Select item 14732155747.

rs1473215574 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 21:36712614 (GRCh38)
21:38084914 (GRCh37)
Canonical SPDI:: NC_000021.9:36712613:T:G
Gene:: SIM2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.36712614T>G, NC_000021.8:g.38084914T>G, NG_029519.2:g.18501T>G, NG_029519.1:g.17924T>G, NM_005069.6:c.340T>G, NM_005069.5:c.340T>G, NM_005069.4:c.340T>G, NM_005069.3:c.340T>G, NM_009586.5:c.340T>G, NM_009586.4:c.340T>G, NM_009586.3:c.340T>G, NM_009586.2:c.340T>G, XM_017028442.3:c.340T>G, XM_017028442.2:c.340T>G, XM_017028442.1:c.340T>G, XM_011529694.2:c.37T>G, XM_011529694.1:c.37T>G, XM_047440952.1:c.37T>G, XM_047440953.1:c.340T>G, NP_005060.1:p.Leu114Val, NP_033664.2:p.Leu114Val, XP_016883931.1:p.Leu114Val, XP_011527996.1:p.Leu13Val, XP_047296908.1:p.Leu13Val, XP_047296909.1:p.Leu114Val

Select item 14682333638.

rs1468233363 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 21:36699886 (GRCh38)
21:38072186 (GRCh37)
Canonical SPDI:: NC_000021.9:36699885:C:A
Gene:: SIM2 (Varview), LOC105369308 (Varview), LOC107985492 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.36699886C>A, NC_000021.8:g.38072186C>A, NG_029519.2:g.5773C>A, NG_029519.1:g.5196C>A, NM_005069.6:c.140C>A, NM_005069.5:c.140C>A, NM_005069.4:c.140C>A, NM_005069.3:c.140C>A, NM_009586.5:c.140C>A, NM_009586.4:c.140C>A, NM_009586.3:c.140C>A, NM_009586.2:c.140C>A, XM_017028442.3:c.140C>A, XM_017028442.2:c.140C>A, XM_017028442.1:c.140C>A, XM_047440953.1:c.140C>A, NP_005060.1:p.Thr47Lys, NP_033664.2:p.Thr47Lys, XP_016883931.1:p.Thr47Lys, XP_047296909.1:p.Thr47Lys

Select item 14666281899.

rs1466628189 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 21:36719844 (GRCh38)
21:38092145 (GRCh37)
Canonical SPDI:: NC_000021.9:36719843:T:G
Gene:: SIM2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.36719844T>G, NC_000021.8:g.38092145T>G, NG_029519.2:g.25731T>G, NG_029519.1:g.25155T>G, NM_005069.6:c.372T>G, NM_005069.5:c.372T>G, NM_005069.4:c.372T>G, NM_005069.3:c.372T>G, NM_009586.5:c.372T>G, NM_009586.4:c.372T>G, NM_009586.3:c.372T>G, NM_009586.2:c.372T>G, XM_017028442.3:c.372T>G, XM_017028442.2:c.372T>G, XM_017028442.1:c.372T>G, XM_011529694.2:c.69T>G, XM_011529694.1:c.69T>G, XM_047440952.1:c.69T>G, XM_047440953.1:c.372T>G, NP_005060.1:p.Ile124Met, NP_033664.2:p.Ile124Met, XP_016883931.1:p.Ile124Met, XP_011527996.1:p.Ile23Met, XP_047296908.1:p.Ile23Met, XP_047296909.1:p.Ile124Met

Select item 146357331510.

rs1463573315 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:36726247 (GRCh38)
21:38098548 (GRCh37)
Canonical SPDI:: NC_000021.9:36726246:G:A
Gene:: SIM2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.36726247G>A, NC_000021.8:g.38098548G>A, NG_029519.2:g.32134G>A, NG_029519.1:g.31558G>A, NM_005069.6:c.672G>A, NM_005069.5:c.672G>A, NM_005069.4:c.672G>A, NM_005069.3:c.672G>A, NM_009586.5:c.672G>A, NM_009586.4:c.672G>A, NM_009586.3:c.672G>A, NM_009586.2:c.672G>A, XM_017028442.3:c.672G>A, XM_017028442.2:c.672G>A, XM_017028442.1:c.672G>A, XM_011529694.2:c.369G>A, XM_011529694.1:c.369G>A, XM_047440952.1:c.369G>A, XM_047440953.1:c.672G>A

Select item 146278500311.

rs1462785003 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:36723128 (GRCh38)
21:38095429 (GRCh37)
Canonical SPDI:: NC_000021.9:36723127:A:G
Gene:: SIM2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.36723128A>G, NC_000021.8:g.38095429A>G, NG_029519.2:g.29015A>G, NG_029519.1:g.28439A>G, NM_005069.6:c.541A>G, NM_005069.5:c.541A>G, NM_005069.4:c.541A>G, NM_005069.3:c.541A>G, NM_009586.5:c.541A>G, NM_009586.4:c.541A>G, NM_009586.3:c.541A>G, NM_009586.2:c.541A>G, XM_017028442.3:c.541A>G, XM_017028442.2:c.541A>G, XM_017028442.1:c.541A>G, XM_011529694.2:c.238A>G, XM_011529694.1:c.238A>G, XM_047440952.1:c.238A>G, XM_047440953.1:c.541A>G, NP_005060.1:p.Lys181Glu, NP_033664.2:p.Lys181Glu, XP_016883931.1:p.Lys181Glu, XP_011527996.1:p.Lys80Glu, XP_047296908.1:p.Lys80Glu, XP_047296909.1:p.Lys181Glu

Select item 146144957312.

rs1461449573 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 21:36726307 (GRCh38)
21:38098608 (GRCh37)
Canonical SPDI:: NC_000021.9:36726306:C:A,NC_000021.9:36726306:C:G
Gene:: SIM2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000462/7 (ALFA)
A=0.000004/1 (GnomAD_exomes)
G=0.002232/10 (Estonian)
HGVS:: NC_000021.9:g.36726307C>A, NC_000021.9:g.36726307C>G, NC_000021.8:g.38098608C>A, NC_000021.8:g.38098608C>G, NG_029519.2:g.32194C>A, NG_029519.2:g.32194C>G, NG_029519.1:g.31618C>A, NG_029519.1:g.31618C>G, NM_005069.6:c.732C>A, NM_005069.6:c.732C>G, NM_005069.5:c.732C>A, NM_005069.5:c.732C>G, NM_005069.4:c.732C>A, NM_005069.4:c.732C>G, NM_005069.3:c.732C>A, NM_005069.3:c.732C>G, NM_009586.5:c.732C>A, NM_009586.5:c.732C>G, NM_009586.4:c.732C>A, NM_009586.4:c.732C>G, NM_009586.3:c.732C>A, NM_009586.3:c.732C>G, NM_009586.2:c.732C>A, NM_009586.2:c.732C>G, XM_017028442.3:c.732C>A, XM_017028442.3:c.732C>G, XM_017028442.2:c.732C>A, XM_017028442.2:c.732C>G, XM_017028442.1:c.732C>A, XM_017028442.1:c.732C>G, XM_011529694.2:c.429C>A, XM_011529694.2:c.429C>G, XM_011529694.1:c.429C>A, XM_011529694.1:c.429C>G, XM_047440952.1:c.429C>A, XM_047440952.1:c.429C>G, XM_047440953.1:c.732C>A, XM_047440953.1:c.732C>G, NP_005060.1:p.Phe244Leu, NP_005060.1:p.Phe244Leu, NP_033664.2:p.Phe244Leu, NP_033664.2:p.Phe244Leu, XP_016883931.1:p.Phe244Leu, XP_016883931.1:p.Phe244Leu, XP_011527996.1:p.Phe143Leu, XP_011527996.1:p.Phe143Leu, XP_047296908.1:p.Phe143Leu, XP_047296908.1:p.Phe143Leu, XP_047296909.1:p.Phe244Leu, XP_047296909.1:p.Phe244Leu

Select item 145831526213.

rs1458315262 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 21:36699905 (GRCh38)
21:38072205 (GRCh37)
Canonical SPDI:: NC_000021.9:36699904:C:A,NC_000021.9:36699904:C:G,NC_000021.9:36699904:C:T
Gene:: SIM2 (Varview), LOC105369308 (Varview), LOC107985492 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000021.9:g.36699905C>A, NC_000021.9:g.36699905C>G, NC_000021.9:g.36699905C>T, NC_000021.8:g.38072205C>A, NC_000021.8:g.38072205C>G, NC_000021.8:g.38072205C>T, NG_029519.2:g.5792C>A, NG_029519.2:g.5792C>G, NG_029519.2:g.5792C>T, NG_029519.1:g.5215C>A, NG_029519.1:g.5215C>G, NG_029519.1:g.5215C>T, NM_005069.6:c.159C>A, NM_005069.6:c.159C>G, NM_005069.6:c.159C>T, NM_005069.5:c.159C>A, NM_005069.5:c.159C>G, NM_005069.5:c.159C>T, NM_005069.4:c.159C>A, NM_005069.4:c.159C>G, NM_005069.4:c.159C>T, NM_005069.3:c.159C>A, NM_005069.3:c.159C>G, NM_005069.3:c.159C>T, NM_009586.5:c.159C>A, NM_009586.5:c.159C>G, NM_009586.5:c.159C>T, NM_009586.4:c.159C>A, NM_009586.4:c.159C>G, NM_009586.4:c.159C>T, NM_009586.3:c.159C>A, NM_009586.3:c.159C>G, NM_009586.3:c.159C>T, NM_009586.2:c.159C>A, NM_009586.2:c.159C>G, NM_009586.2:c.159C>T, XM_017028442.3:c.159C>A, XM_017028442.3:c.159C>G, XM_017028442.3:c.159C>T, XM_017028442.2:c.159C>A, XM_017028442.2:c.159C>G, XM_017028442.2:c.159C>T, XM_017028442.1:c.159C>A, XM_017028442.1:c.159C>G, XM_017028442.1:c.159C>T, XM_047440953.1:c.159C>A, XM_047440953.1:c.159C>G, XM_047440953.1:c.159C>T

Select item 145814047614.

rs1458140476 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 21:36699909 (GRCh38)
21:38072209 (GRCh37)
Canonical SPDI:: NC_000021.9:36699908:G:T
Gene:: SIM2 (Varview), LOC105369308 (Varview), LOC107985492 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0.00003/1 (ALFA)
HGVS:: NC_000021.9:g.36699909G>T, NC_000021.8:g.38072209G>T, NG_029519.2:g.5796G>T, NG_029519.1:g.5219G>T, NM_005069.6:c.163G>T, NM_005069.5:c.163G>T, NM_005069.4:c.163G>T, NM_005069.3:c.163G>T, NM_009586.5:c.163G>T, NM_009586.4:c.163G>T, NM_009586.3:c.163G>T, NM_009586.2:c.163G>T, XM_017028442.3:c.163G>T, XM_017028442.2:c.163G>T, XM_017028442.1:c.163G>T, XM_047440953.1:c.163G>T, NP_005060.1:p.Val55Phe, NP_033664.2:p.Val55Phe, XP_016883931.1:p.Val55Phe, XP_047296909.1:p.Val55Phe

Select item 145541140715.

rs1455411407 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:36726192 (GRCh38)
21:38098493 (GRCh37)
Canonical SPDI:: NC_000021.9:36726191:A:G
Gene:: SIM2 (Varview)
Functional Consequence:: missense_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_000021.9:g.36726192A>G, NC_000021.8:g.38098493A>G, NG_029519.2:g.32079A>G, NG_029519.1:g.31503A>G, NM_005069.6:c.617A>G, NM_005069.5:c.617A>G, NM_005069.4:c.617A>G, NM_005069.3:c.617A>G, NM_009586.5:c.617A>G, NM_009586.4:c.617A>G, NM_009586.3:c.617A>G, NM_009586.2:c.617A>G, XM_017028442.3:c.617A>G, XM_017028442.2:c.617A>G, XM_017028442.1:c.617A>G, XM_011529694.2:c.314A>G, XM_011529694.1:c.314A>G, XM_047440952.1:c.314A>G, XM_047440953.1:c.617A>G, NP_005060.1:p.Gln206Arg, NP_033664.2:p.Gln206Arg, XP_016883931.1:p.Gln206Arg, XP_011527996.1:p.Gln105Arg, XP_047296908.1:p.Gln105Arg, XP_047296909.1:p.Gln206Arg

Select item 145351781016.

rs1453517810 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:36699834 (GRCh38)
21:38072134 (GRCh37)
Canonical SPDI:: NC_000021.9:36699833:C:T
Gene:: SIM2 (Varview), LOC105369308 (Varview), LOC107985492 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.36699834C>T, NC_000021.8:g.38072134C>T, NG_029519.2:g.5721C>T, NG_029519.1:g.5144C>T, NM_005069.6:c.88C>T, NM_005069.5:c.88C>T, NM_005069.4:c.88C>T, NM_005069.3:c.88C>T, NM_009586.5:c.88C>T, NM_009586.4:c.88C>T, NM_009586.3:c.88C>T, NM_009586.2:c.88C>T, XM_017028442.3:c.88C>T, XM_017028442.2:c.88C>T, XM_017028442.1:c.88C>T, XM_047440953.1:c.88C>T, NP_005060.1:p.Pro30Ser, NP_033664.2:p.Pro30Ser, XP_016883931.1:p.Pro30Ser, XP_047296909.1:p.Pro30Ser

Select item 145313531717.

rs1453135317 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:36726253 (GRCh38)
21:38098554 (GRCh37)
Canonical SPDI:: NC_000021.9:36726252:G:A
Gene:: SIM2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.36726253G>A, NC_000021.8:g.38098554G>A, NG_029519.2:g.32140G>A, NG_029519.1:g.31564G>A, NM_005069.6:c.678G>A, NM_005069.5:c.678G>A, NM_005069.4:c.678G>A, NM_005069.3:c.678G>A, NM_009586.5:c.678G>A, NM_009586.4:c.678G>A, NM_009586.3:c.678G>A, NM_009586.2:c.678G>A, XM_017028442.3:c.678G>A, XM_017028442.2:c.678G>A, XM_017028442.1:c.678G>A, XM_011529694.2:c.375G>A, XM_011529694.1:c.375G>A, XM_047440952.1:c.375G>A, XM_047440953.1:c.678G>A

Select item 144970284418.

rs1449702844 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:36741841 (GRCh38)
21:38114142 (GRCh37)
Canonical SPDI:: NC_000021.9:36741840:C:T
Gene:: SIM2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000021.9:g.36741841C>T, NC_000021.8:g.38114142C>T, NG_029519.2:g.47728C>T, NG_029519.1:g.47152C>T, NM_005069.6:c.975C>T, NM_005069.5:c.975C>T, NM_005069.4:c.975C>T, NM_005069.3:c.975C>T, NM_009586.5:c.975C>T, NM_009586.4:c.975C>T, NM_009586.3:c.975C>T, NM_009586.2:c.975C>T, XM_017028442.3:c.975C>T, XM_017028442.2:c.975C>T, XM_017028442.1:c.975C>T, XM_011529694.2:c.672C>T, XM_011529694.1:c.672C>T, XM_047440952.1:c.672C>T

Select item 144808898019.

rs1448088980 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:36731055 (GRCh38)
21:38103356 (GRCh37)
Canonical SPDI:: NC_000021.9:36731054:G:A
Gene:: SIM2 (Varview)
Functional Consequence:: missense_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_000021.9:g.36731055G>A, NC_000021.8:g.38103356G>A, NG_029519.2:g.36942G>A, NG_029519.1:g.36366G>A, NM_005069.6:c.754G>A, NM_005069.5:c.754G>A, NM_005069.4:c.754G>A, NM_005069.3:c.754G>A, NM_009586.5:c.754G>A, NM_009586.4:c.754G>A, NM_009586.3:c.754G>A, NM_009586.2:c.754G>A, XM_017028442.3:c.754G>A, XM_017028442.2:c.754G>A, XM_017028442.1:c.754G>A, XM_011529694.2:c.451G>A, XM_011529694.1:c.451G>A, XM_047440952.1:c.451G>A, XM_047440953.1:c.754G>A, NP_005060.1:p.Val252Met, NP_033664.2:p.Val252Met, XP_016883931.1:p.Val252Met, XP_011527996.1:p.Val151Met, XP_047296908.1:p.Val151Met, XP_047296909.1:p.Val252Met

Select item 144745202920.

rs1447452029 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 21:36741722 (GRCh38)
21:38114023 (GRCh37)
Canonical SPDI:: NC_000021.9:36741721:G:A,NC_000021.9:36741721:G:C
Gene:: SIM2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by cluster
HGVS:: NC_000021.9:g.36741722G>A, NC_000021.9:g.36741722G>C, NC_000021.8:g.38114023G>A, NC_000021.8:g.38114023G>C, NG_029519.2:g.47609G>A, NG_029519.2:g.47609G>C, NG_029519.1:g.47033G>A, NG_029519.1:g.47033G>C, NM_005069.6:c.856G>A, NM_005069.6:c.856G>C, NM_005069.5:c.856G>A, NM_005069.5:c.856G>C, NM_005069.4:c.856G>A, NM_005069.4:c.856G>C, NM_005069.3:c.856G>A, NM_005069.3:c.856G>C, NM_009586.5:c.856G>A, NM_009586.5:c.856G>C, NM_009586.4:c.856G>A, NM_009586.4:c.856G>C, NM_009586.3:c.856G>A, NM_009586.3:c.856G>C, NM_009586.2:c.856G>A, NM_009586.2:c.856G>C, XM_017028442.3:c.856G>A, XM_017028442.3:c.856G>C, XM_017028442.2:c.856G>A, XM_017028442.2:c.856G>C, XM_017028442.1:c.856G>A, XM_017028442.1:c.856G>C, XM_011529694.2:c.553G>A, XM_011529694.2:c.553G>C, XM_011529694.1:c.553G>A, XM_011529694.1:c.553G>C, XM_047440952.1:c.553G>A, XM_047440952.1:c.553G>C, NP_005060.1:p.Val286Met, NP_005060.1:p.Val286Leu, NP_033664.2:p.Val286Met, NP_033664.2:p.Val286Leu, XP_016883931.1:p.Val286Met, XP_016883931.1:p.Val286Leu, XP_011527996.1:p.Val185Met, XP_011527996.1:p.Val185Leu, XP_047296908.1:p.Val185Met, XP_047296908.1:p.Val185Leu

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Result Filters

Clinical Significance

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Items: 1 to 20 of 362

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