SNP Links for PMC (Select 2852411) - SNP

Select item 49885091.

rs4988509 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 3:172447883 (GRCh38)
3:172165673 (GRCh37)
Canonical SPDI:: NC_000003.12:172447882:G:C,NC_000003.12:172447882:G:T
Gene:: GHSR (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign,benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.004711/232 (ALFA)
T=0.000937/5 (1000Genomes)
T=0.002595/687 (TOPMED)
T=0.002691/35 (GoESP)
T=0.003311/1 (FINRISK)
T=0.003336/468 (GnomAD)
T=0.004315/16 (TWINSUK)
T=0.00467/18 (ALSPAC)
T=0.00501/5 (GoNL)
T=0.008705/39 (Estonian)
T=0.021667/13 (NorthernSweden)
G=0.5/2 (SGDP_PRJ)
HGVS:: NC_000003.12:g.172447883G>C, NC_000003.12:g.172447883G>T, NC_000003.11:g.172165673G>C, NC_000003.11:g.172165673G>T, NG_021159.1:g.5574C>G, NG_021159.1:g.5574C>A, NM_198407.2:c.531C>G, NM_198407.2:c.531C>A, NM_004122.2:c.531C>G, NM_004122.2:c.531C>A

PubMed

Select item 29486942.

rs2948694 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 3:172447373 (GRCh38)
3:172165163 (GRCh37)
Canonical SPDI:: NC_000003.12:172447372:A:C,NC_000003.12:172447372:A:G,NC_000003.12:172447372:A:T
Gene:: GHSR (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.110338/3170 (ALFA)
T=0./0 (KOREAN)
G=0.074074/16 (Qatari)
G=0.075/3 (GENOME_DK)
G=0.093186/93 (GoNL)
G=0.107335/398 (TWINSUK)
G=0.115724/446 (ALSPAC)
G=0.116667/70 (NorthernSweden)
G=0.118958/31487 (TOPMED)
G=0.123046/551 (Estonian)
G=0.138889/10 (PRJEB36033)
G=0.140034/17099 (GnomAD)
G=0.148118/11656 (PAGE_STUDY)
G=0.196629/35 (HapMap)
G=0.222517/1114 (1000Genomes)
G=0.311146/5205 (TOMMO)
G=0.331646/262 (PRJEB37584)
A=0.333333/6 (Siberian)
G=0.344432/631 (Korea1K)
G=0.364078/75 (Vietnamese)
A=0.398058/82 (SGDP_PRJ)
HGVS:: NC_000003.12:g.172447373A>C, NC_000003.12:g.172447373A>G, NC_000003.12:g.172447373A>T, NC_000003.11:g.172165163A>C, NC_000003.11:g.172165163A>G, NC_000003.11:g.172165163A>T, NG_021159.1:g.6084T>G, NG_021159.1:g.6084T>C, NG_021159.1:g.6084T>A

PubMed

Select item 29221263.

rs2922126 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:172449471 (GRCh38)
3:172167261 (GRCh37)
Canonical SPDI:: NC_000003.12:172449470:T:A
Gene:: GHSR (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.303176/5727 (ALFA)
A=0.221154/46 (HapMap)
A=0.260932/69066 (TOPMED)
A=0.269793/37750 (GnomAD)
A=0.297683/334 (Daghestan)
A=0.308245/1544 (1000Genomes)
A=0.326861/1212 (TWINSUK)
A=0.329659/329 (GoNL)
A=0.336015/1295 (ALSPAC)
A=0.347222/75 (Qatari)
T=0.35034/103 (SGDP_PRJ)
A=0.356667/214 (NorthernSweden)
A=0.367188/1645 (Estonian)
A=0.375/15 (GENOME_DK)
T=0.394737/15 (Siberian)
A=0.401869/86 (Vietnamese)
A=0.415599/6965 (TOMMO)
A=0.424051/335 (PRJEB37584)
A=0.43286/793 (Korea1K)
A=0.453242/1328 (KOREAN)
HGVS:: NC_000003.12:g.172449471T>A, NC_000003.11:g.172167261T>A, NG_021159.1:g.3986A>T

PubMed

Select item 22321694.

rs2232169 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 3:172447967 (GRCh38)
3:172165757 (GRCh37)
Canonical SPDI:: NC_000003.12:172447966:G:A,NC_000003.12:172447966:G:C
Gene:: GHSR (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.022751/1129 (ALFA)
C=0.016854/9 (MGP)
C=0.017007/5 (FINRISK)
C=0.023612/91 (ALSPAC)
C=0.024048/24 (GoNL)
C=0.024107/108 (Estonian)
C=0.025/1 (GENOME_DK)
C=0.02616/97 (TWINSUK)
C=0.028333/17 (NorthernSweden)
C=0.032011/160 (1000Genomes)
C=0.036672/5144 (GnomAD)
C=0.037946/10044 (TOPMED)
C=0.042519/553 (GoESP)
G=0.047619/10 (HapMap)
C=0.092593/20 (Qatari)
G=0.318182/7 (SGDP_PRJ)
HGVS:: NC_000003.12:g.172447967G>A, NC_000003.12:g.172447967G>C, NC_000003.11:g.172165757G>A, NC_000003.11:g.172165757G>C, NG_021159.1:g.5490C>T, NG_021159.1:g.5490C>G, NM_198407.2:c.447C>T, NM_198407.2:c.447C>G, NM_004122.2:c.447C>T, NM_004122.2:c.447C>G

PubMed

Select item 22321655.

rs2232165 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:172448354 (GRCh38)
3:172166144 (GRCh37)
Canonical SPDI:: NC_000003.12:172448353:G:A
Gene:: GHSR (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.033853/2457 (ALFA)
A=0./0 (PRJEB36033)
A=0.014981/8 (MGP)
A=0.020134/6 (FINRISK)
A=0.022833/88 (ALSPAC)
A=0.023214/104 (Estonian)
A=0.024048/24 (GoNL)
A=0.025/1 (GENOME_DK)
A=0.02616/97 (TWINSUK)
A=0.028333/17 (NorthernSweden)
A=0.029084/6886 (GnomAD_exomes)
A=0.033116/3593 (ExAC)
A=0.035915/180 (1000Genomes)
A=0.03959/5554 (GnomAD)
A=0.041071/10871 (TOPMED)
A=0.043134/49 (Daghestan)
A=0.04434/3485 (PAGE_STUDY)
A=0.045441/591 (GoESP)
A=0.047619/10 (HapMap)
A=0.106481/23 (Qatari)
G=0.392857/11 (SGDP_PRJ)
HGVS:: NC_000003.12:g.172448354G>A, NC_000003.11:g.172166144G>A, NG_021159.1:g.5103C>T, NM_198407.2:c.60C>T, NM_004122.2:c.60C>T

PubMed

Select item 19163456.

rs1916345 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 3:172441134 (GRCh38)
3:172158924 (GRCh37)
Canonical SPDI:: NC_000003.12:172441133:A:C,NC_000003.12:172441133:A:G,NC_000003.12:172441133:A:T
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.205576/6245 (ALFA)
T=0./0 (KOREAN)
A=0.001638/3 (Korea1K)
A=0.002619/44 (TOMMO)
A=0.018868/4 (Vietnamese)
A=0.089286/5 (Siberian)
A=0.098113/52 (SGDP_PRJ)
A=0.131667/79 (NorthernSweden)
A=0.162325/162 (GoNL)
A=0.17177/662 (ALSPAC)
A=0.174757/648 (TWINSUK)
A=0.175/7 (GENOME_DK)
A=0.18683/837 (Estonian)
A=0.192035/217 (Daghestan)
A=0.220487/1104 (1000Genomes)
A=0.230042/32227 (GnomAD)
A=0.236424/62579 (TOPMED)
A=0.271429/57 (HapMap)
A=0.296296/64 (Qatari)
HGVS:: NC_000003.12:g.172441134A>C, NC_000003.12:g.172441134A>G, NC_000003.12:g.172441134A>T, NC_000003.11:g.172158924A>C, NC_000003.11:g.172158924A>G, NC_000003.11:g.172158924A>T

PubMed

Select item 14036377.

rs1403637 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:172440607 (GRCh38)
3:172158397 (GRCh37)
Canonical SPDI:: NC_000003.12:172440606:T:C
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.392258/112626 (ALFA)
C=0.164301/301 (Korea1K)
C=0.166667/132 (PRJEB37584)
C=0.173288/506 (KOREAN)
C=0.175926/38 (Vietnamese)
C=0.187124/311 (HapMap)
C=0.20628/16233 (PAGE_STUDY)
C=0.210806/1056 (1000Genomes)
C=0.234645/489 (HGDP_Stanford)
C=0.252389/4230 (TOMMO)
C=0.287094/75991 (TOPMED)
C=0.298622/41819 (GnomAD)
C=0.361667/217 (NorthernSweden)
T=0.366667/22 (PRJEB36033)
T=0.387755/76 (SGDP_PRJ)
C=0.389984/1503 (ALSPAC)
C=0.391741/1755 (Estonian)
C=0.400216/1484 (TWINSUK)
C=0.401804/401 (GoNL)
T=0.45/18 (GENOME_DK)
T=0.461538/12 (Siberian)
C=0.476852/103 (Qatari)
HGVS:: NC_000003.12:g.172440607T>C, NC_000003.11:g.172158397T>C

PubMed

Select item 5721698.

rs572169 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:172447937 (GRCh38)
3:172165727 (GRCh37)
Canonical SPDI:: NC_000003.12:172447936:C:T
Gene:: GHSR (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.295048/106009 (ALFA)
T=0.02381/2 (PRJEB36033)
T=0.111111/24 (Qatari)
T=0.136704/73 (MGP)
T=0.175/7 (GENOME_DK)
T=0.201205/334 (HapMap)
T=0.230586/2999 (GoESP)
T=0.232511/1164 (1000Genomes)
T=0.233471/18327 (PAGE_STUDY)
T=0.244986/34322 (GnomAD)
T=0.245147/64888 (TOPMED)
T=0.296205/1327 (Estonian)
T=0.301768/36386 (ExAC)
T=0.305662/637 (HGDP_Stanford)
T=0.307829/77121 (GnomAD_exomes)
T=0.309187/350 (Daghestan)
T=0.309331/1147 (TWINSUK)
T=0.311258/94 (FINRISK)
T=0.315257/1215 (ALSPAC)
T=0.327778/177 (Vietnamese)
T=0.335671/335 (GoNL)
C=0.361111/104 (SGDP_PRJ)
T=0.378333/227 (NorthernSweden)
C=0.388889/14 (Siberian)
T=0.412166/6908 (TOMMO)
T=0.45321/1327 (KOREAN)
T=0.467249/856 (Korea1K)
T=0.480964/379 (PRJEB37584)
HGVS:: NC_000003.12:g.172447937C>T, NC_000003.11:g.172165727C>T, NG_021159.1:g.5520G>A, NM_198407.2:c.477G>A, NM_004122.2:c.477G>A

PubMed

Select item 5090359.

rs509035 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 3:172445659 (GRCh38)
3:172163449 (GRCh37)
Canonical SPDI:: NC_000003.12:172445658:G:A,NC_000003.12:172445658:G:C,NC_000003.12:172445658:G:T
Gene:: GHSR (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.292895/76309 (ALFA)
A=0.106481/23 (Qatari)
A=0.175/7 (GENOME_DK)
A=0.20048/334 (HapMap)
A=0.232667/1165 (1000Genomes)
A=0.233253/18357 (PAGE_STUDY)
A=0.245644/34400 (GnomAD)
A=0.246016/65118 (TOPMED)
A=0.296429/1328 (Estonian)
A=0.312567/1159 (TWINSUK)
A=0.316035/1218 (ALSPAC)
A=0.337675/337 (GoNL)
A=0.35623/223 (Chileans)
G=0.363636/104 (SGDP_PRJ)
A=0.378333/227 (NorthernSweden)
G=0.388889/14 (Siberian)
A=0.411215/88 (Vietnamese)
A=0.412273/6910 (TOMMO)
A=0.454608/1332 (KOREAN)
A=0.467795/857 (Korea1K)
A=0.483503/381 (PRJEB37584)
HGVS:: NC_000003.12:g.172445659G>A, NC_000003.12:g.172445659G>C, NC_000003.12:g.172445659G>T, NC_000003.11:g.172163449G>A, NC_000003.11:g.172163449G>C, NC_000003.11:g.172163449G>T, NG_021159.1:g.7798C>T, NG_021159.1:g.7798C>G, NG_021159.1:g.7798C>A

PubMed

Select item 49522510.

rs495225 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 3:172448243 (GRCh38)
3:172166033 (GRCh37)
Canonical SPDI:: NC_000003.12:172448242:G:A,NC_000003.12:172448242:G:C,NC_000003.12:172448242:G:T
Gene:: GHSR (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.303079/49243 (ALFA)
A=0.009363/5 (MGP)
G=0.229167/11 (Siberian)
G=0.248333/149 (NorthernSweden)
G=0.248908/114 (SGDP_PRJ)
G=0.25/10 (GENOME_DK)
G=0.25/10 (PRJEB36033)
G=0.256513/256 (GoNL)
G=0.283711/1052 (TWINSUK)
G=0.288791/1113 (ALSPAC)
G=0.311161/1394 (Estonian)
G=0.313986/5262 (TOMMO)
G=0.337805/83856 (GnomAD_exomes)
G=0.340506/269 (PRJEB37584)
G=0.344523/41413 (ExAC)
G=0.346616/635 (Korea1K)
G=0.352459/1032 (KOREAN)
G=0.354305/107 (FINRISK)
G=0.363119/4722 (GoESP)
G=0.366529/51358 (GnomAD)
G=0.370116/97966 (TOPMED)
G=0.37037/80 (Qatari)
G=0.412052/253 (Vietnamese)
G=0.459557/2301 (1000Genomes)
G=0.477711/793 (HapMap)
HGVS:: NC_000003.12:g.172448243G>A, NC_000003.12:g.172448243G>C, NC_000003.12:g.172448243G>T, NC_000003.11:g.172166033G>A, NC_000003.11:g.172166033G>C, NC_000003.11:g.172166033G>T, NG_021159.1:g.5214C>T, NG_021159.1:g.5214C>G, NG_021159.1:g.5214C>A, NM_198407.2:c.171C>T, NM_198407.2:c.171C>G, NM_198407.2:c.171C>A, NM_004122.2:c.171C>T, NM_004122.2:c.171C>G, NM_004122.2:c.171C>A

PubMed

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