SNP Links for Protein (Select 16445436) - SNP

Links from Protein

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Select item 14872661211.

rs1487266121 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 21:39270303 (GRCh38)
21:40642229 (GRCh37)
Canonical SPDI:: NC_000021.9:39270302:G:C
Gene:: BRWD1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.39270303G>C, NC_000021.8:g.40642229G>C, NG_029919.2:g.48484C>G, NM_018963.5:c.1375C>G, NM_018963.4:c.1375C>G, NM_033656.4:c.1375C>G, NM_033656.3:c.1375C>G, XM_017028373.2:c.1114C>G, XM_017028373.1:c.1114C>G, XM_011529611.2:c.1375C>G, XM_011529611.1:c.1375C>G, XM_011529612.2:c.535C>G, XM_011529612.1:c.535C>G, XM_017028375.2:c.1375C>G, XM_017028375.1:c.1375C>G, XM_047440841.1:c.1375C>G, NP_061836.2:p.Gln459Glu, NP_387505.1:p.Gln459Glu, XP_016883862.1:p.Gln372Glu, XP_011527913.1:p.Gln459Glu, XP_011527914.1:p.Gln179Glu, XP_016883864.1:p.Gln459Glu, XP_047296797.1:p.Gln459Glu

Select item 14871983792.

rs1487198379 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:39199325 (GRCh38)
21:40571251 (GRCh37)
Canonical SPDI:: NC_000021.9:39199324:A:G
Gene:: BRWD1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.39199325A>G, NC_000021.8:g.40571251A>G, NG_029919.2:g.119462T>C, NM_018963.5:c.5091T>C, NM_018963.4:c.5091T>C, NM_033656.4:c.5091T>C, NM_033656.3:c.5091T>C, XM_017028373.2:c.4830T>C, XM_017028373.1:c.4830T>C, XM_011529611.2:c.4947T>C, XM_011529611.1:c.4947T>C, XM_011529612.2:c.4251T>C, XM_011529612.1:c.4251T>C, XM_011529613.2:c.2124T>C, XM_011529613.1:c.2124T>C

Select item 14870981183.

rs1487098118 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:39232210 (GRCh38)
21:40604136 (GRCh37)
Canonical SPDI:: NC_000021.9:39232209:A:G
Gene:: BRWD1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.39232210A>G, NC_000021.8:g.40604136A>G, NG_029919.2:g.86577T>C, NM_018963.5:c.2967T>C, NM_018963.4:c.2967T>C, NM_033656.4:c.2967T>C, NM_033656.3:c.2967T>C, XM_017028373.2:c.2706T>C, XM_017028373.1:c.2706T>C, XM_011529611.2:c.2967T>C, XM_011529611.1:c.2967T>C, XM_011529612.2:c.2127T>C, XM_011529612.1:c.2127T>C, XM_011529613.2:c.-69T>C, XM_011529613.1:c.-69T>C, XM_017028375.2:c.2967T>C, XM_017028375.1:c.2967T>C, XM_047440841.1:c.2967T>C

Select item 14860082364.

rs1486008236 [Homo sapiens]

Variant type:: DEL
Alleles:: AAT>- [Show Flanks]
Chromosome:: 21:39196816 (GRCh38)
21:40568742 (GRCh37)
Canonical SPDI:: NC_000021.9:39196815:AAT:
Gene:: BRWD1 (Varview)
Functional Consequence:: inframe_indel,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000019/5 (TOPMED)
HGVS:: NC_000021.9:g.39196816_39196818del, NC_000021.8:g.40568742_40568744del, NG_029919.2:g.121969_121971del, NM_018963.5:c.6251_6253del, NM_018963.4:c.6251_6253del, NM_033656.4:c.6251_6253del, NM_033656.3:c.6251_6253del, XM_017028373.2:c.5990_5992del, XM_017028373.1:c.5990_5992del, XM_011529611.2:c.6107_6109del, XM_011529611.1:c.6107_6109del, XM_011529612.2:c.5411_5413del, XM_011529612.1:c.5411_5413del, XM_011529613.2:c.3284_3286del, XM_011529613.1:c.3284_3286del, NP_061836.2:p.Asn2084_Phe2085delinsIle, NP_387505.1:p.Asn2084_Phe2085delinsIle, XP_016883862.1:p.Asn1997_Phe1998delinsIle, XP_011527913.1:p.Asn2036_Phe2037delinsIle, XP_011527914.1:p.Asn1804_Phe1805delinsIle, XP_011527915.1:p.Asn1095_Phe1096delinsIle

Select item 14859057565.

rs1485905756 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 21:39197166 (GRCh38)
21:40569092 (GRCh37)
Canonical SPDI:: NC_000021.9:39197165:G:T
Gene:: BRWD1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000021.9:g.39197166G>T, NC_000021.8:g.40569092G>T, NG_029919.2:g.121621C>A, NM_018963.5:c.5903C>A, NM_018963.4:c.5903C>A, NM_033656.4:c.5903C>A, NM_033656.3:c.5903C>A, XM_017028373.2:c.5642C>A, XM_017028373.1:c.5642C>A, XM_011529611.2:c.5759C>A, XM_011529611.1:c.5759C>A, XM_011529612.2:c.5063C>A, XM_011529612.1:c.5063C>A, XM_011529613.2:c.2936C>A, XM_011529613.1:c.2936C>A, NP_061836.2:p.Ala1968Asp, NP_387505.1:p.Ala1968Asp, XP_016883862.1:p.Ala1881Asp, XP_011527913.1:p.Ala1920Asp, XP_011527914.1:p.Ala1688Asp, XP_011527915.1:p.Ala979Asp

Select item 14853860596.

rs1485386059 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:39197244 (GRCh38)
21:40569170 (GRCh37)
Canonical SPDI:: NC_000021.9:39197243:A:G
Gene:: BRWD1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000021.9:g.39197244A>G, NC_000021.8:g.40569170A>G, NG_029919.2:g.121543T>C, NM_018963.5:c.5825T>C, NM_018963.4:c.5825T>C, NM_033656.4:c.5825T>C, NM_033656.3:c.5825T>C, XM_017028373.2:c.5564T>C, XM_017028373.1:c.5564T>C, XM_011529611.2:c.5681T>C, XM_011529611.1:c.5681T>C, XM_011529612.2:c.4985T>C, XM_011529612.1:c.4985T>C, XM_011529613.2:c.2858T>C, XM_011529613.1:c.2858T>C, NP_061836.2:p.Met1942Thr, NP_387505.1:p.Met1942Thr, XP_016883862.1:p.Met1855Thr, XP_011527913.1:p.Met1894Thr, XP_011527914.1:p.Met1662Thr, XP_011527915.1:p.Met953Thr

Select item 14853000057.

rs1485300005 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 21:39210879 (GRCh38)
21:40582805 (GRCh37)
Canonical SPDI:: NC_000021.9:39210878:G:A,NC_000021.9:39210878:G:C
Gene:: BRWD1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000021.9:g.39210879G>A, NC_000021.9:g.39210879G>C, NC_000021.8:g.40582805G>A, NC_000021.8:g.40582805G>C, NG_029919.2:g.107908C>T, NG_029919.2:g.107908C>G, NM_018963.5:c.3951C>T, NM_018963.5:c.3951C>G, NM_018963.4:c.3951C>T, NM_018963.4:c.3951C>G, NM_033656.4:c.3951C>T, NM_033656.4:c.3951C>G, NM_033656.3:c.3951C>T, NM_033656.3:c.3951C>G, XM_017028373.2:c.3690C>T, XM_017028373.2:c.3690C>G, XM_017028373.1:c.3690C>T, XM_017028373.1:c.3690C>G, XM_011529612.2:c.3111C>T, XM_011529612.2:c.3111C>G, XM_011529612.1:c.3111C>T, XM_011529612.1:c.3111C>G, XM_011529613.2:c.984C>T, XM_011529613.2:c.984C>G, XM_011529613.1:c.984C>T, XM_011529613.1:c.984C>G, NP_061836.2:p.Asn1317Lys, NP_387505.1:p.Asn1317Lys, XP_016883862.1:p.Asn1230Lys, XP_011527914.1:p.Asn1037Lys, XP_011527915.1:p.Asn328Lys

Select item 14852762608.

rs1485276260 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:39232421 (GRCh38)
21:40604347 (GRCh37)
Canonical SPDI:: NC_000021.9:39232420:A:G
Gene:: BRWD1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_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.39232421A>G, NC_000021.8:g.40604347A>G, NG_029919.2:g.86366T>C, NM_018963.5:c.2844T>C, NM_018963.4:c.2844T>C, NM_033656.4:c.2844T>C, NM_033656.3:c.2844T>C, XM_017028373.2:c.2583T>C, XM_017028373.1:c.2583T>C, XM_011529611.2:c.2844T>C, XM_011529611.1:c.2844T>C, XM_011529612.2:c.2004T>C, XM_011529612.1:c.2004T>C, XM_017028375.2:c.2844T>C, XM_017028375.1:c.2844T>C, XM_047440841.1:c.2844T>C

Select item 14848231539.

rs1484823153 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:39293872 (GRCh38)
21:40665798 (GRCh37)
Canonical SPDI:: NC_000021.9:39293871:A:G
Gene:: BRWD1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,genic_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_000021.9:g.39293872A>G, NC_000021.8:g.40665798A>G, NG_029919.2:g.24915T>C, NM_018963.5:c.770T>C, NM_018963.4:c.770T>C, NM_033656.4:c.770T>C, NM_033656.3:c.770T>C, XM_017028373.2:c.509T>C, XM_017028373.1:c.509T>C, XM_011529611.2:c.770T>C, XM_011529611.1:c.770T>C, XM_017028375.2:c.770T>C, XM_017028375.1:c.770T>C, XM_047440841.1:c.770T>C, NP_061836.2:p.Leu257Ser, NP_387505.1:p.Leu257Ser, XP_016883862.1:p.Leu170Ser, XP_011527913.1:p.Leu257Ser, XP_016883864.1:p.Leu257Ser, XP_047296797.1:p.Leu257Ser

Select item 148462254910.

rs1484622549 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 21:39264628 (GRCh38)
21:40636554 (GRCh37)
Canonical SPDI:: NC_000021.9:39264627:T:G
Gene:: BRWD1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000021.9:g.39264628T>G, NC_000021.8:g.40636554T>G, NG_029919.2:g.54159A>C, NM_018963.5:c.1717A>C, NM_018963.4:c.1717A>C, NM_033656.4:c.1717A>C, NM_033656.3:c.1717A>C, XM_017028373.2:c.1456A>C, XM_017028373.1:c.1456A>C, XM_011529611.2:c.1717A>C, XM_011529611.1:c.1717A>C, XM_011529612.2:c.877A>C, XM_011529612.1:c.877A>C, XM_017028375.2:c.1717A>C, XM_017028375.1:c.1717A>C, XM_047440841.1:c.1717A>C, NP_061836.2:p.Asn573His, NP_387505.1:p.Asn573His, XP_016883862.1:p.Asn486His, XP_011527913.1:p.Asn573His, XP_011527914.1:p.Asn293His, XP_016883864.1:p.Asn573His, XP_047296797.1:p.Asn573His

Select item 148405975211.

rs1484059752 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:39264650 (GRCh38)
21:40636576 (GRCh37)
Canonical SPDI:: NC_000021.9:39264649:T:C
Gene:: BRWD1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.39264650T>C, NC_000021.8:g.40636576T>C, NG_029919.2:g.54137A>G, NM_018963.5:c.1695A>G, NM_018963.4:c.1695A>G, NM_033656.4:c.1695A>G, NM_033656.3:c.1695A>G, XM_017028373.2:c.1434A>G, XM_017028373.1:c.1434A>G, XM_011529611.2:c.1695A>G, XM_011529611.1:c.1695A>G, XM_011529612.2:c.855A>G, XM_011529612.1:c.855A>G, XM_017028375.2:c.1695A>G, XM_017028375.1:c.1695A>G, XM_047440841.1:c.1695A>G

Select item 148401688112.

rs1484016881 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:39298510 (GRCh38)
21:40670436 (GRCh37)
Canonical SPDI:: NC_000021.9:39298509:T:C
Gene:: BRWD1 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_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.39298510T>C, NC_000021.8:g.40670436T>C, NG_029919.2:g.20277A>G, NM_018963.5:c.271A>G, NM_018963.4:c.271A>G, NM_033656.4:c.271A>G, NM_033656.3:c.271A>G, NM_001007246.3:c.271A>G, NM_001007246.2:c.271A>G, XM_017028373.2:c.10A>G, XM_017028373.1:c.10A>G, XM_011529611.2:c.271A>G, XM_011529611.1:c.271A>G, XM_017028375.2:c.271A>G, XM_017028375.1:c.271A>G, XM_047440841.1:c.271A>G, NP_061836.2:p.Lys91Glu, NP_387505.1:p.Lys91Glu, NP_001007247.1:p.Lys91Glu, XP_016883862.1:p.Lys4Glu, XP_011527913.1:p.Lys91Glu, XP_016883864.1:p.Lys91Glu, XP_047296797.1:p.Lys91Glu

Select item 148353594513.

rs1483535945 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:39277327 (GRCh38)
21:40649253 (GRCh37)
Canonical SPDI:: NC_000021.9:39277326:C:T
Gene:: BRWD1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.39277327C>T, NC_000021.8:g.40649253C>T, NG_029919.2:g.41460G>A, NM_018963.5:c.1028G>A, NM_018963.4:c.1028G>A, NM_033656.4:c.1028G>A, NM_033656.3:c.1028G>A, XM_017028373.2:c.767G>A, XM_017028373.1:c.767G>A, XM_011529611.2:c.1028G>A, XM_011529611.1:c.1028G>A, XM_011529612.2:c.188G>A, XM_011529612.1:c.188G>A, XM_017028375.2:c.1028G>A, XM_017028375.1:c.1028G>A, XM_047440841.1:c.1028G>A, NP_061836.2:p.Ser343Asn, NP_387505.1:p.Ser343Asn, XP_016883862.1:p.Ser256Asn, XP_011527913.1:p.Ser343Asn, XP_011527914.1:p.Ser63Asn, XP_016883864.1:p.Ser343Asn, XP_047296797.1:p.Ser343Asn

Select item 148347192214.

rs1483471922 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:39298505 (GRCh38)
21:40670431 (GRCh37)
Canonical SPDI:: NC_000021.9:39298504:T:C
Gene:: BRWD1 (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_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 (TOPMED)
HGVS:: NC_000021.9:g.39298505T>C, NC_000021.8:g.40670431T>C, NG_029919.2:g.20282A>G, NM_018963.5:c.276A>G, NM_018963.4:c.276A>G, NM_033656.4:c.276A>G, NM_033656.3:c.276A>G, NM_001007246.3:c.276A>G, NM_001007246.2:c.276A>G, XM_017028373.2:c.15A>G, XM_017028373.1:c.15A>G, XM_011529611.2:c.276A>G, XM_011529611.1:c.276A>G, XM_017028375.2:c.276A>G, XM_017028375.1:c.276A>G, XM_047440841.1:c.276A>G

Select item 148344905115.

rs1483449051 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:39199332 (GRCh38)
21:40571258 (GRCh37)
Canonical SPDI:: NC_000021.9:39199331:T:C
Gene:: BRWD1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000021.9:g.39199332T>C, NC_000021.8:g.40571258T>C, NG_029919.2:g.119455A>G, NM_018963.5:c.5084A>G, NM_018963.4:c.5084A>G, NM_033656.4:c.5084A>G, NM_033656.3:c.5084A>G, XM_017028373.2:c.4823A>G, XM_017028373.1:c.4823A>G, XM_011529611.2:c.4940A>G, XM_011529611.1:c.4940A>G, XM_011529612.2:c.4244A>G, XM_011529612.1:c.4244A>G, XM_011529613.2:c.2117A>G, XM_011529613.1:c.2117A>G, NP_061836.2:p.Asp1695Gly, NP_387505.1:p.Asp1695Gly, XP_016883862.1:p.Asp1608Gly, XP_011527913.1:p.Asp1647Gly, XP_011527914.1:p.Asp1415Gly, XP_011527915.1:p.Asp706Gly

Select item 148343157016.

rs1483431570 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:39199211 (GRCh38)
21:40571137 (GRCh37)
Canonical SPDI:: NC_000021.9:39199210:A:G
Gene:: BRWD1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.39199211A>G, NC_000021.8:g.40571137A>G, NG_029919.2:g.119576T>C, NM_018963.5:c.5205T>C, NM_018963.4:c.5205T>C, NM_033656.4:c.5205T>C, NM_033656.3:c.5205T>C, XM_017028373.2:c.4944T>C, XM_017028373.1:c.4944T>C, XM_011529611.2:c.5061T>C, XM_011529611.1:c.5061T>C, XM_011529612.2:c.4365T>C, XM_011529612.1:c.4365T>C, XM_011529613.2:c.2238T>C, XM_011529613.1:c.2238T>C

Select item 148328642517.

rs1483286425 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:39215291 (GRCh38)
21:40587217 (GRCh37)
Canonical SPDI:: NC_000021.9:39215290:C:T
Gene:: BRWD1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000021.9:g.39215291C>T, NC_000021.8:g.40587217C>T, NG_029919.2:g.103496G>A, NM_018963.5:c.3731G>A, NM_018963.4:c.3731G>A, NM_033656.4:c.3731G>A, NM_033656.3:c.3731G>A, XM_017028373.2:c.3470G>A, XM_017028373.1:c.3470G>A, XM_011529611.2:c.3731G>A, XM_011529611.1:c.3731G>A, XM_011529612.2:c.2891G>A, XM_011529612.1:c.2891G>A, XM_011529613.2:c.764G>A, XM_011529613.1:c.764G>A, NP_061836.2:p.Ser1244Asn, NP_387505.1:p.Ser1244Asn, XP_016883862.1:p.Ser1157Asn, XP_011527913.1:p.Ser1244Asn, XP_011527914.1:p.Ser964Asn, XP_011527915.1:p.Ser255Asn

Select item 148252993818.

rs1482529938 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 21:39296265 (GRCh38)
21:40668191 (GRCh37)
Canonical SPDI:: NC_000021.9:39296264:C:A
Gene:: BRWD1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.39296265C>A, NC_000021.8:g.40668191C>A, NG_029919.2:g.22522G>T, NM_018963.5:c.448G>T, NM_018963.4:c.448G>T, NM_033656.4:c.448G>T, NM_033656.3:c.448G>T, XM_017028373.2:c.187G>T, XM_017028373.1:c.187G>T, XM_011529611.2:c.448G>T, XM_011529611.1:c.448G>T, XM_017028375.2:c.448G>T, XM_017028375.1:c.448G>T, XM_047440841.1:c.448G>T, NP_061836.2:p.Val150Leu, NP_387505.1:p.Val150Leu, XP_016883862.1:p.Val63Leu, XP_011527913.1:p.Val150Leu, XP_016883864.1:p.Val150Leu, XP_047296797.1:p.Val150Leu

Select item 148139248819.

rs1481392488 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:39224423 (GRCh38)
21:40596349 (GRCh37)
Canonical SPDI:: NC_000021.9:39224422:G:A
Gene:: BRWD1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.39224423G>A, NC_000021.8:g.40596349G>A, NG_029919.2:g.94364C>T, NM_018963.5:c.3367C>T, NM_018963.4:c.3367C>T, NM_033656.4:c.3367C>T, NM_033656.3:c.3367C>T, XM_017028373.2:c.3106C>T, XM_017028373.1:c.3106C>T, XM_011529611.2:c.3367C>T, XM_011529611.1:c.3367C>T, XM_011529612.2:c.2527C>T, XM_011529612.1:c.2527C>T, XM_011529613.2:c.400C>T, XM_011529613.1:c.400C>T, NP_061836.2:p.Pro1123Ser, NP_387505.1:p.Pro1123Ser, XP_016883862.1:p.Pro1036Ser, XP_011527913.1:p.Pro1123Ser, XP_011527914.1:p.Pro843Ser, XP_011527915.1:p.Pro134Ser

Select item 148094050720.

rs1480940507 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 21:39202502 (GRCh38)
21:40574428 (GRCh37)
Canonical SPDI:: NC_000021.9:39202501:G:A,NC_000021.9:39202501:G:T
Gene:: BRWD1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000021.9:g.39202502G>A, NC_000021.9:g.39202502G>T, NC_000021.8:g.40574428G>A, NC_000021.8:g.40574428G>T, NG_029919.2:g.116285C>T, NG_029919.2:g.116285C>A, NM_018963.5:c.4408C>T, NM_018963.5:c.4408C>A, NM_018963.4:c.4408C>T, NM_018963.4:c.4408C>A, NM_033656.4:c.4408C>T, NM_033656.4:c.4408C>A, NM_033656.3:c.4408C>T, NM_033656.3:c.4408C>A, XM_017028373.2:c.4147C>T, XM_017028373.2:c.4147C>A, XM_017028373.1:c.4147C>T, XM_017028373.1:c.4147C>A, XM_011529611.2:c.4264C>T, XM_011529611.2:c.4264C>A, XM_011529611.1:c.4264C>T, XM_011529611.1:c.4264C>A, XM_011529612.2:c.3568C>T, XM_011529612.2:c.3568C>A, XM_011529612.1:c.3568C>T, XM_011529612.1:c.3568C>A, XM_011529613.2:c.1441C>T, XM_011529613.2:c.1441C>A, XM_011529613.1:c.1441C>T, XM_011529613.1:c.1441C>A, NP_061836.2:p.Pro1470Ser, NP_061836.2:p.Pro1470Thr, NP_387505.1:p.Pro1470Ser, NP_387505.1:p.Pro1470Thr, XP_016883862.1:p.Pro1383Ser, XP_016883862.1:p.Pro1383Thr, XP_011527913.1:p.Pro1422Ser, XP_011527913.1:p.Pro1422Thr, XP_011527914.1:p.Pro1190Ser, XP_011527914.1:p.Pro1190Thr, XP_011527915.1:p.Pro481Ser, XP_011527915.1:p.Pro481Thr

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