SNP Links for Protein (Select 9951913) - SNP

Links from Protein

Items: 1 to 20 of 523

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Select item 14872812501.

rs1487281250 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:6824003 (GRCh38)
12:6933169 (GRCh37)
Canonical SPDI:: NC_000012.12:6824002:C:G
Gene:: GPR162 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_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_000012.12:g.6824003C>G, NC_000012.11:g.6933169C>G, NG_033740.2:g.598C>G, NG_033740.1:g.632C>G, NW_003871083.2:g.25589C>G, NM_019858.2:c.105C>G, NM_019858.1:c.105C>G, NP_062832.1:p.Ile35Met

Select item 14870689742.

rs1487068974 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:6827180 (GRCh38)
12:6936345 (GRCh37)
Canonical SPDI:: NC_000012.12:6827179:C:T
Gene:: P3H3 (Varview), GPR162 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.6827180C>T, NC_000012.11:g.6936345C>T, NG_033740.2:g.3775C>T, NG_033740.1:g.3808C>T, NW_003871083.2:g.28765C>T, NM_019858.2:c.1743C>T, NM_019858.1:c.1743C>T, NM_014449.2:c.891C>T, NM_014449.1:c.891C>T

Select item 14843057543.

rs1484305754 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 12:6824532 (GRCh38)
12:6933698 (GRCh37)
Canonical SPDI:: NC_000012.12:6824531:A:G,NC_000012.12:6824531:A:T
Gene:: GPR162 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.004974/59 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000018/2 (GnomAD)
T=0.000071/2 (TOMMO)
G=0.032922/96 (KOREAN)
HGVS:: NC_000012.12:g.6824532A>G, NC_000012.12:g.6824532A>T, NC_000012.11:g.6933698A>G, NC_000012.11:g.6933698A>T, NG_033740.2:g.1127A>G, NG_033740.2:g.1127A>T, NG_033740.1:g.1161A>G, NG_033740.1:g.1161A>T, NW_003871083.2:g.26118A>G, NW_003871083.2:g.26118A>T, NM_019858.2:c.634A>G, NM_019858.2:c.634A>T, NM_019858.1:c.634A>G, NM_019858.1:c.634A>T, NP_062832.1:p.Arg212Gly, NP_062832.1:p.Arg212Trp

Select item 14735878174.

rs1473587817 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:6825602 (GRCh38)
12:6934767 (GRCh37)
Canonical SPDI:: NC_000012.12:6825601:G:A
Gene:: GPR162 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.6825602G>A, NC_000012.11:g.6934767G>A, NG_033740.2:g.2197G>A, NG_033740.1:g.2230G>A, NW_003871083.2:g.27187G>A, NM_019858.2:c.986G>A, NM_019858.1:c.986G>A, NM_014449.2:c.134G>A, NM_014449.1:c.134G>A, NP_062832.1:p.Arg329His, NP_055264.1:p.Arg45His

Select item 14734209675.

rs1473420967 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:6825593 (GRCh38)
12:6934758 (GRCh37)
Canonical SPDI:: NC_000012.12:6825592:C:T
Gene:: GPR162 (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_000012.12:g.6825593C>T, NC_000012.11:g.6934758C>T, NG_033740.2:g.2188C>T, NG_033740.1:g.2221C>T, NW_003871083.2:g.27178C>T, NM_019858.2:c.977C>T, NM_019858.1:c.977C>T, NM_014449.2:c.125C>T, NM_014449.1:c.125C>T, NP_062832.1:p.Ser326Phe, NP_055264.1:p.Ser42Phe

Select item 14733080676.

rs1473308067 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCGGAGGGCTCGGC>- [Show Flanks]
Chromosome:: 12:6824527 (GRCh38)
12:6933693 (GRCh37)
Canonical SPDI:: NC_000012.12:6824522:CGGCCCCGGAGGGCTCGGC:CGGC
Gene:: GPR162 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,inframe_deletion
Validated:: by frequency,by alfa
MAF:: CGGC=0./0 (ALFA)
HGVS:: NC_000012.12:g.6824527_6824541del, NC_000012.11:g.6933693_6933707del, NG_033740.2:g.1122_1136del, NG_033740.1:g.1156_1170del, NW_003871083.2:g.26113_26127del, NM_019858.2:c.629_643del, NM_019858.1:c.629_643del, NP_062832.1:p.Pro210_Arg214del

Select item 14640476987.

rs1464047698 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:6824275 (GRCh38)
12:6933441 (GRCh37)
Canonical SPDI:: NC_000012.12:6824274:G:A
Gene:: GPR162 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000012.12:g.6824275G>A, NC_000012.11:g.6933441G>A, NG_033740.2:g.870G>A, NG_033740.1:g.904G>A, NW_003871083.2:g.25861G>A, NM_019858.2:c.377G>A, NM_019858.1:c.377G>A, NP_062832.1:p.Arg126His

Select item 14620779188.

rs1462077918 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:6827053 (GRCh38)
12:6936218 (GRCh37)
Canonical SPDI:: NC_000012.12:6827052:C:T
Gene:: P3H3 (Varview), GPR162 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,missense_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_000012.12:g.6827053C>T, NC_000012.11:g.6936218C>T, NG_033740.2:g.3648C>T, NG_033740.1:g.3681C>T, NW_003871083.2:g.28638C>T, NM_019858.2:c.1616C>T, NM_019858.1:c.1616C>T, NM_014449.2:c.764C>T, NM_014449.1:c.764C>T, NP_062832.1:p.Ser539Phe, NP_055264.1:p.Ser255Phe

Select item 14590885119.

rs1459088511 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:6824743 (GRCh38)
12:6933909 (GRCh37)
Canonical SPDI:: NC_000012.12:6824742:C:A
Gene:: GPR162 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.6824743C>A, NC_000012.11:g.6933909C>A, NG_033740.2:g.1338C>A, NG_033740.1:g.1372C>A, NW_003871083.2:g.26329C>A, NM_019858.2:c.845C>A, NM_019858.1:c.845C>A, NP_062832.1:p.Ser282Ter

Select item 145751784110.

rs1457517841 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:6824128 (GRCh38)
12:6933294 (GRCh37)
Canonical SPDI:: NC_000012.12:6824127:G:A
Gene:: GPR162 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.6824128G>A, NC_000012.11:g.6933294G>A, NG_033740.2:g.723G>A, NG_033740.1:g.757G>A, NW_003871083.2:g.25714G>A, NM_019858.2:c.230G>A, NM_019858.1:c.230G>A, NP_062832.1:p.Arg77His

Select item 145728928711.

rs1457289287 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:6827074 (GRCh38)
12:6936239 (GRCh37)
Canonical SPDI:: NC_000012.12:6827073:G:A
Gene:: P3H3 (Varview), GPR162 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.6827074G>A, NC_000012.11:g.6936239G>A, NG_033740.2:g.3669G>A, NG_033740.1:g.3702G>A, NW_003871083.2:g.28659G>A, NM_019858.2:c.1637G>A, NM_019858.1:c.1637G>A, NM_014449.2:c.785G>A, NM_014449.1:c.785G>A, NP_062832.1:p.Arg546Lys, NP_055264.1:p.Arg262Lys

Select item 145291223312.

rs1452912233 [Homo sapiens]

Variant type:: DEL
Alleles:: TTGATGCTAACGGAG>- [Show Flanks]
Chromosome:: 12:6826244 (GRCh38)
12:6935409 (GRCh37)
Canonical SPDI:: NC_000012.12:6826243:TTGATGCTAACGGAG:
Gene:: GPR162 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_indel
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.6826244_6826258del, NC_000012.11:g.6935409_6935423del, NG_033740.2:g.2839_2853del, NG_033740.1:g.2872_2886del, NW_003871083.2:g.27829_27843del, NM_019858.2:c.1106_1120del, NM_019858.1:c.1106_1120del, NM_014449.2:c.254_268del, NM_014449.1:c.254_268del, NP_062832.1:p.Phe369_Ala374delinsSer, NP_055264.1:p.Phe85_Ala90delinsSer

Select item 144692588013.

rs1446925880 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:6826257 (GRCh38)
12:6935422 (GRCh37)
Canonical SPDI:: NC_000012.12:6826256:A:G
Gene:: GPR162 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.6826257A>G, NC_000012.11:g.6935422A>G, NG_033740.2:g.2852A>G, NG_033740.1:g.2885A>G, NW_003871083.2:g.27842A>G, NM_019858.2:c.1119A>G, NM_019858.1:c.1119A>G, NM_014449.2:c.267A>G, NM_014449.1:c.267A>G

Select item 144052180514.

rs1440521805 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGCCTCTC [Show Flanks]
Chromosome:: 12:6827030 (GRCh38)
12:6936196 (GRCh37)
Canonical SPDI:: NC_000012.12:6827030:GGCCTCTC:GGCCTCTCGGCCTCTC
Gene:: P3H3 (Varview), GPR162 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGCCTCTCGGCCTCTC=0.000043/1 (ALFA)
GGCCTCTC=0.000004/1 (GnomAD_exomes)
GGCCTCTC=0.000019/5 (TOPMED)
GGCCTCTC=0.000029/4 (GnomAD)
HGVS:: NC_000012.12:g.6827031_6827038dup, NC_000012.11:g.6936196_6936203dup, NG_033740.2:g.3626_3633dup, NG_033740.1:g.3659_3666dup, NW_003871083.2:g.28616_28623dup, NM_019858.2:c.1594_1601dup, NM_019858.1:c.1594_1601dup, NM_014449.2:c.742_749dup, NM_014449.1:c.742_749dup, NP_062832.1:p.Pro535fs, NP_055264.1:p.Pro251fs

Select item 143975966215.

rs1439759662 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:6826350 (GRCh38)
12:6935515 (GRCh37)
Canonical SPDI:: NC_000012.12:6826349:A:G
Gene:: GPR162 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000077/3 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000012.12:g.6826350A>G, NC_000012.11:g.6935515A>G, NG_033740.2:g.2945A>G, NG_033740.1:g.2978A>G, NW_003871083.2:g.27935A>G, NM_019858.2:c.1212A>G, NM_019858.1:c.1212A>G, NM_014449.2:c.360A>G, NM_014449.1:c.360A>G

Select item 143891255816.

rs1438912558 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:6827112 (GRCh38)
12:6936277 (GRCh37)
Canonical SPDI:: NC_000012.12:6827111:C:T
Gene:: P3H3 (Varview), GPR162 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.6827112C>T, NC_000012.11:g.6936277C>T, NG_033740.2:g.3707C>T, NG_033740.1:g.3740C>T, NW_003871083.2:g.28697C>T, NM_019858.2:c.1675C>T, NM_019858.1:c.1675C>T, NM_014449.2:c.823C>T, NM_014449.1:c.823C>T, NP_062832.1:p.Arg559Cys, NP_055264.1:p.Arg275Cys

Select item 143684139117.

rs1436841391 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:6824666 (GRCh38)
12:6933832 (GRCh37)
Canonical SPDI:: NC_000012.12:6824665:G:A,NC_000012.12:6824665:G:C
Gene:: GPR162 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.6824666G>A, NC_000012.12:g.6824666G>C, NC_000012.11:g.6933832G>A, NC_000012.11:g.6933832G>C, NG_033740.2:g.1261G>A, NG_033740.2:g.1261G>C, NG_033740.1:g.1295G>A, NG_033740.1:g.1295G>C, NW_003871083.2:g.26252G>A, NW_003871083.2:g.26252G>C, NM_019858.2:c.768G>A, NM_019858.2:c.768G>C, NM_019858.1:c.768G>A, NM_019858.1:c.768G>C

Select item 143557782418.

rs1435577824 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:6824256 (GRCh38)
12:6933422 (GRCh37)
Canonical SPDI:: NC_000012.12:6824255:C:T
Gene:: GPR162 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.6824256C>T, NC_000012.11:g.6933422C>T, NG_033740.2:g.851C>T, NG_033740.1:g.885C>T, NW_003871083.2:g.25842C>T, NM_019858.2:c.358C>T, NM_019858.1:c.358C>T, NP_062832.1:p.Arg120Cys

Select item 143193439319.

rs1431934393 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:6826894 (GRCh38)
12:6936059 (GRCh37)
Canonical SPDI:: NC_000012.12:6826893:G:A
Gene:: P3H3 (Varview), GPR162 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.6826894G>A, NC_000012.11:g.6936059G>A, NG_033740.2:g.3489G>A, NG_033740.1:g.3522G>A, NW_003871083.2:g.28479G>A, NM_019858.2:c.1457G>A, NM_019858.1:c.1457G>A, NM_014449.2:c.605G>A, NM_014449.1:c.605G>A, NP_062832.1:p.Gly486Glu, NP_055264.1:p.Gly202Glu

Select item 143114808820.

rs1431148088 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:6824162 (GRCh38)
12:6933328 (GRCh37)
Canonical SPDI:: NC_000012.12:6824161:T:C
Gene:: GPR162 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000045/2 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.6824162T>C, NC_000012.11:g.6933328T>C, NG_033740.2:g.757T>C, NG_033740.1:g.791T>C, NW_003871083.2:g.25748T>C, NM_019858.2:c.264T>C, NM_019858.1:c.264T>C

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