SNP Links for Protein (Select 768020989) - SNP

Links from Protein

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Select item 14871983791.

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 14860082362.

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 14859057563.

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 14853860594.

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 14853000055.

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 14834490516.

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 14834315707.

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 14832864258.

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 14813924889.

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 148094050710.

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

Select item 147874611211.

rs1478746112 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:39199035 (GRCh38)
21:40570961 (GRCh37)
Canonical SPDI:: NC_000021.9:39199034:T:C
Gene:: BRWD1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000021.9:g.39199035T>C, NC_000021.8:g.40570961T>C, NG_029919.2:g.119752A>G, NM_018963.5:c.5381A>G, NM_018963.4:c.5381A>G, NM_033656.4:c.5381A>G, NM_033656.3:c.5381A>G, XM_017028373.2:c.5120A>G, XM_017028373.1:c.5120A>G, XM_011529611.2:c.5237A>G, XM_011529611.1:c.5237A>G, XM_011529612.2:c.4541A>G, XM_011529612.1:c.4541A>G, XM_011529613.2:c.2414A>G, XM_011529613.1:c.2414A>G, NP_061836.2:p.Glu1794Gly, NP_387505.1:p.Glu1794Gly, XP_016883862.1:p.Glu1707Gly, XP_011527913.1:p.Glu1746Gly, XP_011527914.1:p.Glu1514Gly, XP_011527915.1:p.Glu805Gly

Select item 147799591612.

rs1477995916 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 21:39210860 (GRCh38)
21:40582786 (GRCh37)
Canonical SPDI:: NC_000021.9:39210859:C:G
Gene:: BRWD1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000021.9:g.39210860C>G, NC_000021.8:g.40582786C>G, NG_029919.2:g.107927G>C, NM_018963.5:c.3970G>C, NM_018963.4:c.3970G>C, NM_033656.4:c.3970G>C, NM_033656.3:c.3970G>C, XM_017028373.2:c.3709G>C, XM_017028373.1:c.3709G>C, XM_011529612.2:c.3130G>C, XM_011529612.1:c.3130G>C, XM_011529613.2:c.1003G>C, XM_011529613.1:c.1003G>C, NP_061836.2:p.Glu1324Gln, NP_387505.1:p.Glu1324Gln, XP_016883862.1:p.Glu1237Gln, XP_011527914.1:p.Glu1044Gln, XP_011527915.1:p.Glu335Gln

Select item 147761232413.

rs1477612324 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:39200222 (GRCh38)
21:40572148 (GRCh37)
Canonical SPDI:: NC_000021.9:39200221:T:C
Gene:: BRWD1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000021.9:g.39200222T>C, NC_000021.8:g.40572148T>C, NG_029919.2:g.118565A>G, NM_018963.5:c.4750A>G, NM_018963.4:c.4750A>G, NM_033656.4:c.4750A>G, NM_033656.3:c.4750A>G, XM_017028373.2:c.4489A>G, XM_017028373.1:c.4489A>G, XM_011529611.2:c.4606A>G, XM_011529611.1:c.4606A>G, XM_011529612.2:c.3910A>G, XM_011529612.1:c.3910A>G, XM_011529613.2:c.1783A>G, XM_011529613.1:c.1783A>G, NP_061836.2:p.Thr1584Ala, NP_387505.1:p.Thr1584Ala, XP_016883862.1:p.Thr1497Ala, XP_011527913.1:p.Thr1536Ala, XP_011527914.1:p.Thr1304Ala, XP_011527915.1:p.Thr595Ala

Select item 147591184214.

rs1475911842 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:39187310 (GRCh38)
21:40559236 (GRCh37)
Canonical SPDI:: NC_000021.9:39187309:G:A
Gene:: BRWD1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.39187310G>A, NC_000021.8:g.40559236G>A, NG_029919.2:g.131477C>T, NM_018963.5:c.6679C>T, NM_018963.4:c.6679C>T, NM_033656.4:c.*8949C>T, NM_033656.3:c.*8949C>T, XM_017028373.2:c.6418C>T, XM_017028373.1:c.6418C>T, XM_011529611.2:c.6535C>T, XM_011529611.1:c.6535C>T, XM_011529612.2:c.5839C>T, XM_011529612.1:c.5839C>T, XM_011529613.2:c.3712C>T, XM_011529613.1:c.3712C>T, NP_061836.2:p.Pro2227Ser, XP_016883862.1:p.Pro2140Ser, XP_011527913.1:p.Pro2179Ser, XP_011527914.1:p.Pro1947Ser, XP_011527915.1:p.Pro1238Ser

Select item 147456996915.

rs1474569969 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:39197347 (GRCh38)
21:40569273 (GRCh37)
Canonical SPDI:: NC_000021.9:39197346:C: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./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.39197347C>T, NC_000021.8:g.40569273C>T, NG_029919.2:g.121440G>A, NM_018963.5:c.5722G>A, NM_018963.4:c.5722G>A, NM_033656.4:c.5722G>A, NM_033656.3:c.5722G>A, XM_017028373.2:c.5461G>A, XM_017028373.1:c.5461G>A, XM_011529611.2:c.5578G>A, XM_011529611.1:c.5578G>A, XM_011529612.2:c.4882G>A, XM_011529612.1:c.4882G>A, XM_011529613.2:c.2755G>A, XM_011529613.1:c.2755G>A, NP_061836.2:p.Asp1908Asn, NP_387505.1:p.Asp1908Asn, XP_016883862.1:p.Asp1821Asn, XP_011527913.1:p.Asp1860Asn, XP_011527914.1:p.Asp1628Asn, XP_011527915.1:p.Asp919Asn

Select item 147405034216.

rs1474050342 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:39198809 (GRCh38)
21:40570735 (GRCh37)
Canonical SPDI:: NC_000021.9:39198808:T:C
Gene:: BRWD1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
HGVS:: NC_000021.9:g.39198809T>C, NC_000021.8:g.40570735T>C, NG_029919.2:g.119978A>G, NM_018963.5:c.5607A>G, NM_018963.4:c.5607A>G, NM_033656.4:c.5607A>G, NM_033656.3:c.5607A>G, XM_017028373.2:c.5346A>G, XM_017028373.1:c.5346A>G, XM_011529611.2:c.5463A>G, XM_011529611.1:c.5463A>G, XM_011529612.2:c.4767A>G, XM_011529612.1:c.4767A>G, XM_011529613.2:c.2640A>G, XM_011529613.1:c.2640A>G

Select item 147368964517.

rs1473689645 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:39213506 (GRCh38)
21:40585432 (GRCh37)
Canonical SPDI:: NC_000021.9:39213505:T:C
Gene:: BRWD1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.39213506T>C, NC_000021.8:g.40585432T>C, NG_029919.2:g.105281A>G, NM_018963.5:c.3833A>G, NM_018963.4:c.3833A>G, NM_033656.4:c.3833A>G, NM_033656.3:c.3833A>G, XM_017028373.2:c.3572A>G, XM_017028373.1:c.3572A>G, XM_011529611.2:c.3833A>G, XM_011529611.1:c.3833A>G, XM_011529612.2:c.2993A>G, XM_011529612.1:c.2993A>G, XM_011529613.2:c.866A>G, XM_011529613.1:c.866A>G, NP_061836.2:p.Asn1278Ser, NP_387505.1:p.Asn1278Ser, XP_016883862.1:p.Asn1191Ser, XP_011527913.1:p.Asn1278Ser, XP_011527914.1:p.Asn998Ser, XP_011527915.1:p.Asn289Ser

Select item 147347695518.

rs1473476955 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 21:39196961 (GRCh38)
21:40568887 (GRCh37)
Canonical SPDI:: NC_000021.9:39196960:G:T
Gene:: BRWD1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.39196961G>T, NC_000021.8:g.40568887G>T, NG_029919.2:g.121826C>A, NM_018963.5:c.6108C>A, NM_018963.4:c.6108C>A, NM_033656.4:c.6108C>A, NM_033656.3:c.6108C>A, XM_017028373.2:c.5847C>A, XM_017028373.1:c.5847C>A, XM_011529611.2:c.5964C>A, XM_011529611.1:c.5964C>A, XM_011529612.2:c.5268C>A, XM_011529612.1:c.5268C>A, XM_011529613.2:c.3141C>A, XM_011529613.1:c.3141C>A, NP_061836.2:p.His2036Gln, NP_387505.1:p.His2036Gln, XP_016883862.1:p.His1949Gln, XP_011527913.1:p.His1988Gln, XP_011527914.1:p.His1756Gln, XP_011527915.1:p.His1047Gln

Select item 147092910719.

rs1470929107 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:39197083 (GRCh38)
21:40569009 (GRCh37)
Canonical SPDI:: NC_000021.9:39197082:C:T
Gene:: BRWD1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.39197083C>T, NC_000021.8:g.40569009C>T, NG_029919.2:g.121704G>A, NM_018963.5:c.5986G>A, NM_018963.4:c.5986G>A, NM_033656.4:c.5986G>A, NM_033656.3:c.5986G>A, XM_017028373.2:c.5725G>A, XM_017028373.1:c.5725G>A, XM_011529611.2:c.5842G>A, XM_011529611.1:c.5842G>A, XM_011529612.2:c.5146G>A, XM_011529612.1:c.5146G>A, XM_011529613.2:c.3019G>A, XM_011529613.1:c.3019G>A, NP_061836.2:p.Gly1996Ser, NP_387505.1:p.Gly1996Ser, XP_016883862.1:p.Gly1909Ser, XP_011527913.1:p.Gly1948Ser, XP_011527914.1:p.Gly1716Ser, XP_011527915.1:p.Gly1007Ser

Select item 147086746220.

rs1470867462 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 21:39210071 (GRCh38)
21:40581997 (GRCh37)
Canonical SPDI:: NC_000021.9:39210070:C:G
Gene:: BRWD1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.39210071C>G, NC_000021.8:g.40581997C>G, NG_029919.2:g.108716G>C, NM_018963.5:c.4121G>C, NM_018963.4:c.4121G>C, NM_033656.4:c.4121G>C, NM_033656.3:c.4121G>C, XM_017028373.2:c.3860G>C, XM_017028373.1:c.3860G>C, XM_011529611.2:c.3977G>C, XM_011529611.1:c.3977G>C, XM_011529612.2:c.3281G>C, XM_011529612.1:c.3281G>C, XM_011529613.2:c.1154G>C, XM_011529613.1:c.1154G>C, NP_061836.2:p.Ser1374Thr, NP_387505.1:p.Ser1374Thr, XP_016883862.1:p.Ser1287Thr, XP_011527913.1:p.Ser1326Thr, XP_011527914.1:p.Ser1094Thr, XP_011527915.1:p.Ser385Thr

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